Incidental Mutation 'IGL03290:Gprc6a'
ID 415859
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gprc6a
Ensembl Gene ENSMUSG00000019905
Gene Name G protein-coupled receptor, family C, group 6, member A
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03290
Quality Score
Status
Chromosome 10
Chromosomal Location 51490919-51507554 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 51491968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 523 (A523T)
Ref Sequence ENSEMBL: ENSMUSP00000151341 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020062] [ENSMUST00000218684] [ENSMUST00000219286]
AlphaFold Q8K4Z6
Predicted Effect probably damaging
Transcript: ENSMUST00000020062
AA Change: A594T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: A594T

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:ANF_receptor 73 482 2.3e-62 PFAM
Pfam:NCD3G 519 572 5.9e-18 PFAM
Pfam:7tm_3 600 838 2e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000218684
AA Change: A419T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000219286
AA Change: A523T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of family C of the G protein-coupled receptor (GPCR) superfamily, such as GPRC6A, are characterized by an evolutionarily conserved amino acid-sensing motif linked to an intramembranous 7-transmembrane loop region. Several members of GPCR family C, including GPRC6A, also have a long N-terminal domain (summary by Pi et al., 2005 [PubMed 16199532]).[supplied by OMIM, Nov 2010]
PHENOTYPE: Mice homozygous for a knock-out allele show a metabolic syndrome characterized by impaired bone mineralization, increased fat mass, abnormal renal handling of calcium and phosphorus, fatty liver, glucose intolerance, testicular feminization and abnormal steroidogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 A G 7: 119,302,646 (GRCm39) probably benign Het
Asb18 A G 1: 89,942,296 (GRCm39) S2P probably damaging Het
Atp2b2 A G 6: 113,770,715 (GRCm39) F398S probably damaging Het
BC034090 T G 1: 155,101,856 (GRCm39) D136A probably damaging Het
Ces5a A C 8: 94,246,260 (GRCm39) F310V probably damaging Het
Chsy1 T C 7: 65,820,779 (GRCm39) V338A probably benign Het
Dbh A G 2: 27,064,944 (GRCm39) E385G probably damaging Het
Dnah14 T A 1: 181,591,543 (GRCm39) probably benign Het
F2rl1 A G 13: 95,650,097 (GRCm39) S262P possibly damaging Het
Fat2 T C 11: 55,147,045 (GRCm39) N3984D probably benign Het
Fbxo38 A T 18: 62,659,234 (GRCm39) H354Q probably benign Het
Fgf6 T A 6: 127,001,095 (GRCm39) V201D probably damaging Het
Gm16181 A T 17: 35,442,933 (GRCm39) probably benign Het
Gm6811 T C 17: 21,314,311 (GRCm39) noncoding transcript Het
Gna11 A G 10: 81,366,771 (GRCm39) F313S probably damaging Het
Il22 T C 10: 118,041,785 (GRCm39) probably null Het
Insr T C 8: 3,308,574 (GRCm39) Y154C probably damaging Het
Irak4 T A 15: 94,449,780 (GRCm39) D86E probably benign Het
Itk C A 11: 46,225,764 (GRCm39) W529L probably damaging Het
Klhl6 C A 16: 19,765,887 (GRCm39) A572S probably benign Het
Ldhc C T 7: 46,519,112 (GRCm39) R112C probably damaging Het
Lrrc56 T C 7: 140,779,685 (GRCm39) probably benign Het
Mdh2 A G 5: 135,818,567 (GRCm39) E274G probably damaging Het
N4bp1 G T 8: 87,575,161 (GRCm39) D711E probably benign Het
Ngly1 T A 14: 16,281,866 (GRCm38) I248K probably damaging Het
Or2ab1 A G 11: 58,489,149 (GRCm39) N309S probably damaging Het
Or7e176 T C 9: 20,171,556 (GRCm39) I140T probably damaging Het
Pbrm1 A G 14: 30,829,241 (GRCm39) E1421G probably damaging Het
Pcca G A 14: 122,822,518 (GRCm39) R112H possibly damaging Het
Pgrmc2 T C 3: 41,023,061 (GRCm39) probably benign Het
Podnl1 G A 8: 84,858,818 (GRCm39) V548I probably benign Het
Pogz A T 3: 94,782,402 (GRCm39) probably benign Het
Ppp1r3a A G 6: 14,754,771 (GRCm39) Y159H probably damaging Het
Rax T C 18: 66,071,231 (GRCm39) K135E probably damaging Het
Rbm7 T A 9: 48,401,267 (GRCm39) M154L probably benign Het
Rp1 A G 1: 4,420,264 (GRCm39) S283P probably damaging Het
Rpusd4 T C 9: 35,179,273 (GRCm39) S30P probably benign Het
Samd13 T C 3: 146,352,070 (GRCm39) T75A probably benign Het
Sfxn4 A G 19: 60,848,508 (GRCm39) W22R probably damaging Het
Sh3pxd2a T A 19: 47,412,955 (GRCm39) R43W probably damaging Het
Smc5 A G 19: 23,251,022 (GRCm39) V54A probably benign Het
Snap47 A G 11: 59,319,424 (GRCm39) I238T probably damaging Het
Tecpr2 T G 12: 110,934,267 (GRCm39) I1309S possibly damaging Het
Trappc8 A G 18: 20,953,992 (GRCm39) L1310P probably damaging Het
Vmn2r61 T A 7: 41,915,408 (GRCm39) H118Q probably benign Het
Zbtb17 C T 4: 141,194,244 (GRCm39) T731I probably damaging Het
Zfp287 A G 11: 62,606,062 (GRCm39) F282L probably damaging Het
Other mutations in Gprc6a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01361:Gprc6a APN 10 51,491,526 (GRCm39) missense probably damaging 1.00
IGL01640:Gprc6a APN 10 51,503,180 (GRCm39) missense probably damaging 0.99
IGL02122:Gprc6a APN 10 51,502,819 (GRCm39) missense probably benign
IGL02317:Gprc6a APN 10 51,497,049 (GRCm39) missense probably benign 0.01
IGL02995:Gprc6a APN 10 51,502,895 (GRCm39) missense probably damaging 1.00
IGL03229:Gprc6a APN 10 51,492,699 (GRCm39) missense probably damaging 1.00
IGL03256:Gprc6a APN 10 51,504,445 (GRCm39) missense possibly damaging 0.77
IGL03393:Gprc6a APN 10 51,491,355 (GRCm39) missense probably damaging 1.00
R0040:Gprc6a UTSW 10 51,491,080 (GRCm39) nonsense probably null
R0040:Gprc6a UTSW 10 51,491,080 (GRCm39) nonsense probably null
R0050:Gprc6a UTSW 10 51,491,485 (GRCm39) missense probably damaging 1.00
R0050:Gprc6a UTSW 10 51,491,485 (GRCm39) missense probably damaging 1.00
R1495:Gprc6a UTSW 10 51,504,533 (GRCm39) missense probably benign 0.01
R1831:Gprc6a UTSW 10 51,491,902 (GRCm39) missense probably benign 0.22
R2108:Gprc6a UTSW 10 51,491,304 (GRCm39) missense probably damaging 1.00
R2159:Gprc6a UTSW 10 51,491,776 (GRCm39) frame shift probably null
R2160:Gprc6a UTSW 10 51,491,776 (GRCm39) frame shift probably null
R2162:Gprc6a UTSW 10 51,491,776 (GRCm39) frame shift probably null
R2229:Gprc6a UTSW 10 51,502,891 (GRCm39) missense possibly damaging 0.50
R3009:Gprc6a UTSW 10 51,504,392 (GRCm39) missense probably benign 0.02
R3709:Gprc6a UTSW 10 51,491,776 (GRCm39) frame shift probably null
R3710:Gprc6a UTSW 10 51,491,776 (GRCm39) frame shift probably null
R3737:Gprc6a UTSW 10 51,503,007 (GRCm39) missense probably benign
R3914:Gprc6a UTSW 10 51,504,371 (GRCm39) missense probably benign 0.00
R3918:Gprc6a UTSW 10 51,491,776 (GRCm39) frame shift probably null
R3964:Gprc6a UTSW 10 51,491,776 (GRCm39) frame shift probably null
R3965:Gprc6a UTSW 10 51,491,776 (GRCm39) frame shift probably null
R3966:Gprc6a UTSW 10 51,491,776 (GRCm39) frame shift probably null
R3973:Gprc6a UTSW 10 51,504,544 (GRCm39) missense possibly damaging 0.93
R3977:Gprc6a UTSW 10 51,497,197 (GRCm39) missense probably benign 0.18
R3978:Gprc6a UTSW 10 51,497,197 (GRCm39) missense probably benign 0.18
R3979:Gprc6a UTSW 10 51,497,197 (GRCm39) missense probably benign 0.18
R4306:Gprc6a UTSW 10 51,492,735 (GRCm39) missense probably damaging 1.00
R4404:Gprc6a UTSW 10 51,504,639 (GRCm39) missense probably benign 0.09
R4405:Gprc6a UTSW 10 51,504,639 (GRCm39) missense probably benign 0.09
R4408:Gprc6a UTSW 10 51,504,639 (GRCm39) missense probably benign 0.09
R4713:Gprc6a UTSW 10 51,507,553 (GRCm39) unclassified probably benign
R4788:Gprc6a UTSW 10 51,491,104 (GRCm39) missense probably benign 0.00
R5248:Gprc6a UTSW 10 51,491,089 (GRCm39) missense probably damaging 1.00
R5263:Gprc6a UTSW 10 51,502,900 (GRCm39) missense probably damaging 1.00
R5436:Gprc6a UTSW 10 51,502,798 (GRCm39) missense probably benign
R5721:Gprc6a UTSW 10 51,491,076 (GRCm39) missense probably benign 0.06
R6061:Gprc6a UTSW 10 51,491,907 (GRCm39) missense probably damaging 1.00
R6092:Gprc6a UTSW 10 51,491,173 (GRCm39) missense probably damaging 1.00
R6132:Gprc6a UTSW 10 51,491,356 (GRCm39) missense possibly damaging 0.89
R6162:Gprc6a UTSW 10 51,491,008 (GRCm39) missense probably benign 0.44
R6207:Gprc6a UTSW 10 51,502,931 (GRCm39) missense probably benign 0.36
R6497:Gprc6a UTSW 10 51,491,797 (GRCm39) missense probably benign 0.05
R6717:Gprc6a UTSW 10 51,491,233 (GRCm39) missense probably damaging 1.00
R6789:Gprc6a UTSW 10 51,507,412 (GRCm39) missense probably damaging 1.00
R6807:Gprc6a UTSW 10 51,502,841 (GRCm39) nonsense probably null
R7000:Gprc6a UTSW 10 51,491,143 (GRCm39) missense probably benign 0.34
R7019:Gprc6a UTSW 10 51,507,508 (GRCm39) missense possibly damaging 0.68
R7143:Gprc6a UTSW 10 51,490,986 (GRCm39) missense probably benign
R7173:Gprc6a UTSW 10 51,504,595 (GRCm39) missense probably benign 0.01
R7579:Gprc6a UTSW 10 51,502,883 (GRCm39) missense probably benign
R7736:Gprc6a UTSW 10 51,491,549 (GRCm39) missense possibly damaging 0.82
R7920:Gprc6a UTSW 10 51,491,026 (GRCm39) missense probably benign 0.02
R8273:Gprc6a UTSW 10 51,507,370 (GRCm39) missense probably benign
R8329:Gprc6a UTSW 10 51,503,355 (GRCm39) nonsense probably null
R8517:Gprc6a UTSW 10 51,507,337 (GRCm39) missense probably benign 0.00
R8723:Gprc6a UTSW 10 51,491,518 (GRCm39) missense probably damaging 1.00
R8815:Gprc6a UTSW 10 51,497,079 (GRCm39) missense probably benign 0.00
R8829:Gprc6a UTSW 10 51,491,295 (GRCm39) missense probably damaging 0.99
R9151:Gprc6a UTSW 10 51,497,182 (GRCm39) missense possibly damaging 0.94
R9420:Gprc6a UTSW 10 51,491,506 (GRCm39) missense probably damaging 0.99
R9753:Gprc6a UTSW 10 51,504,364 (GRCm39) missense probably benign 0.20
R9766:Gprc6a UTSW 10 51,491,884 (GRCm39) missense probably damaging 1.00
R9790:Gprc6a UTSW 10 51,491,395 (GRCm39) missense probably damaging 0.98
R9791:Gprc6a UTSW 10 51,491,395 (GRCm39) missense probably damaging 0.98
Z1177:Gprc6a UTSW 10 51,491,305 (GRCm39) missense probably damaging 0.98
Posted On 2016-08-02