Table 4 Characterization of the three missense mutations identified in this study

SNP position (Oar_v3.1)

52,429,848

37,308,727

37,3557,21

37,356,400

Chromosome

2

6

6

6

dbSNP_ID

rs160159505

rs159958168

rs419074913

rs159958380

Gene

NPR2

NCAPG

LCORL ^a

LCORL ^a

Ref. (Texel Oar_v3.1) → Alt^b

T → C

C → T

T → A

A → T

Position in CDS

c.2540

c.1754

c.4321^c

c.3642^c

Base pair substitution in CDS

T → C

C → T

A → T

T → A

Breed (mutant allele)^d

Merino

Merino

Churra

Merino

Codon change

cAc → cGc

TCC → TTC

ATA → TTA

GAT → GAA

Amino acid change

Histitine (H) → Arginine (R)

Serine (S)  → Phenilalanine (F)

Isoleucine (I)  → Leucine (L)

Aspartate (D) → Glutamate (E)

Protein change

NPR2_His847Arg

NCAPG_Ser585Phe

LCORL_Ile1441Leu

LCORL_Asp1214Glu

Functional impact (ensemblVEP_Oarv3.1)

Moderate

Moderate

Moderate

Moderate

Functional impact (Polyphen-2)

Benign

Benign (score = 0.252; sensitivity: 0.91; specificity: 0.88)

Benign

Benign

Functional impact (SIFT_Oarv3.1)

Tolerated

Deleterious

Tolerated (low confidence)

Tolerated

Properties of wild aminoacid

Moderate hydropathy, charge “+”

Hydrophilic, polar, no charge

Hydrophobic, no charge

Hydrophilic, charge “−”

Properties of mutant aminoacid

Hydrophilic, charge “+”

Hydrophobic, apolar, no charge

Hydrophobic, no charge

Hydrophilic,, charge “−”

Churra genotypes

TT (15)

CC (14), CT (1)

AT (1), TT (14)

AA (14), AT (1)

Australian Merino genotypes

CC (9), TC (4)

TT (9), TC (3), CC (1)

AA (9), AT (3), TT (1)

TT (9), TA (3), AA (1)