Incidental Mutation 'R4713:Gprc6a'
ID |
353383 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gprc6a
|
Ensembl Gene |
ENSMUSG00000019905 |
Gene Name |
G protein-coupled receptor, family C, group 6, member A |
Synonyms |
|
MMRRC Submission |
041601-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4713 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
51490919-51507554 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to A
at 51507553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020062]
[ENSMUST00000218684]
[ENSMUST00000219286]
|
AlphaFold |
Q8K4Z6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020062
|
SMART Domains |
Protein: ENSMUSP00000020062 Gene: ENSMUSG00000019905
Domain | Start | End | E-Value | Type |
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 benign
Transcript: ENSMUST00000218684
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219286
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrb3 |
G |
T |
1: 25,586,613 (GRCm39) |
T360K |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,508,449 (GRCm39) |
K356E |
probably benign |
Het |
Bpifb2 |
T |
A |
2: 153,723,113 (GRCm39) |
V123E |
probably damaging |
Het |
Cacna1a |
T |
G |
8: 85,276,143 (GRCm39) |
F532V |
probably damaging |
Het |
Cct8 |
C |
A |
16: 87,284,576 (GRCm39) |
E204* |
probably null |
Het |
Cd163 |
T |
A |
6: 124,294,577 (GRCm39) |
|
probably null |
Het |
Cep152 |
C |
A |
2: 125,429,868 (GRCm39) |
A685S |
possibly damaging |
Het |
Chdh |
A |
G |
14: 29,758,798 (GRCm39) |
D581G |
probably benign |
Het |
Cnpy3 |
A |
C |
17: 47,058,391 (GRCm39) |
Y77* |
probably null |
Het |
Col5a3 |
T |
C |
9: 20,704,870 (GRCm39) |
E762G |
unknown |
Het |
Creb3 |
A |
G |
4: 43,563,247 (GRCm39) |
T115A |
probably benign |
Het |
Dlat |
G |
T |
9: 50,555,781 (GRCm39) |
A412E |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,367,514 (GRCm39) |
N1789S |
probably damaging |
Het |
Dzank1 |
C |
T |
2: 144,333,724 (GRCm39) |
E370K |
probably benign |
Het |
Eif3m |
A |
T |
2: 104,837,184 (GRCm39) |
|
probably null |
Het |
Gimap8 |
A |
T |
6: 48,635,920 (GRCm39) |
M562L |
probably benign |
Het |
Gsr |
T |
G |
8: 34,170,347 (GRCm39) |
|
probably null |
Het |
Gstcd |
A |
G |
3: 132,688,860 (GRCm39) |
V630A |
probably damaging |
Het |
Hip1r |
T |
C |
5: 124,128,043 (GRCm39) |
I116T |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,989,000 (GRCm39) |
E1817G |
probably damaging |
Het |
Inpp5f |
A |
C |
7: 128,265,449 (GRCm39) |
T135P |
probably damaging |
Het |
Ism2 |
A |
G |
12: 87,331,801 (GRCm39) |
|
silent |
Het |
Itga11 |
A |
G |
9: 62,673,070 (GRCm39) |
D784G |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,274,671 (GRCm39) |
F837S |
probably damaging |
Het |
Itpr2 |
T |
C |
6: 146,298,456 (GRCm39) |
E10G |
probably damaging |
Het |
Knl1 |
A |
T |
2: 118,899,618 (GRCm39) |
K440* |
probably null |
Het |
Lonp2 |
T |
C |
8: 87,439,943 (GRCm39) |
S648P |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,267,175 (GRCm39) |
S1622P |
probably benign |
Het |
Lrp2 |
G |
T |
2: 69,318,310 (GRCm39) |
A2047D |
probably damaging |
Het |
Mcm3 |
G |
A |
1: 20,873,801 (GRCm39) |
T773I |
probably benign |
Het |
Mki67 |
A |
G |
7: 135,297,198 (GRCm39) |
V2612A |
probably benign |
Het |
Mnx1 |
C |
A |
5: 29,683,129 (GRCm39) |
G49W |
probably damaging |
Het |
Muc5b |
T |
A |
7: 141,402,816 (GRCm39) |
Y673* |
probably null |
Het |
Myo15a |
A |
G |
11: 60,370,756 (GRCm39) |
H1172R |
probably benign |
Het |
Myo1g |
T |
C |
11: 6,466,080 (GRCm39) |
K363R |
probably null |
Het |
Ncoa4 |
T |
A |
14: 31,898,598 (GRCm39) |
C473S |
probably benign |
Het |
Nefh |
T |
C |
11: 4,889,656 (GRCm39) |
T988A |
unknown |
Het |
Nwd2 |
T |
A |
5: 63,961,803 (GRCm39) |
D462E |
probably benign |
Het |
Or2av9 |
T |
C |
11: 58,380,913 (GRCm39) |
T223A |
probably benign |
Het |
Pira13 |
G |
T |
7: 3,825,680 (GRCm39) |
Y396* |
probably null |
Het |
Plec |
T |
C |
15: 76,065,267 (GRCm39) |
E1466G |
unknown |
Het |
Prl3d2 |
G |
T |
13: 27,306,379 (GRCm39) |
M35I |
probably benign |
Het |
Reln |
T |
A |
5: 22,357,461 (GRCm39) |
I202F |
probably benign |
Het |
Rhot1 |
T |
A |
11: 80,116,428 (GRCm39) |
D78E |
probably benign |
Het |
Rsph3b |
T |
C |
17: 7,172,528 (GRCm39) |
|
probably null |
Het |
Scn10a |
C |
T |
9: 119,438,717 (GRCm39) |
M1717I |
probably damaging |
Het |
Sema6a |
T |
A |
18: 47,382,363 (GRCm39) |
H728L |
possibly damaging |
Het |
Slc26a3 |
G |
T |
12: 31,507,079 (GRCm39) |
A345S |
possibly damaging |
Het |
Slc35d2 |
A |
G |
13: 64,247,097 (GRCm39) |
V261A |
possibly damaging |
Het |
Slc49a3 |
T |
C |
5: 108,589,945 (GRCm39) |
T486A |
probably damaging |
Het |
Ssmem1 |
A |
G |
6: 30,519,513 (GRCm39) |
D66G |
probably damaging |
Het |
Sult2a8 |
A |
T |
7: 14,159,402 (GRCm39) |
N72K |
probably benign |
Het |
Tbx10 |
T |
C |
19: 4,046,921 (GRCm39) |
L108P |
probably damaging |
Het |
Tex14 |
T |
C |
11: 87,427,691 (GRCm39) |
S48P |
probably damaging |
Het |
Tmie |
A |
G |
9: 110,696,596 (GRCm39) |
L95P |
probably damaging |
Het |
Tom1l2 |
C |
G |
11: 60,161,259 (GRCm39) |
R84P |
probably damaging |
Het |
Trpm3 |
T |
A |
19: 22,866,799 (GRCm39) |
D543E |
possibly damaging |
Het |
Vipr2 |
A |
C |
12: 116,043,751 (GRCm39) |
R49S |
probably benign |
Het |
Vps8 |
A |
T |
16: 21,261,189 (GRCm39) |
S110C |
probably damaging |
Het |
Zfp791 |
T |
A |
8: 85,837,597 (GRCm39) |
N89I |
probably damaging |
Het |
|
Other mutations in Gprc6a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
IGL03290:Gprc6a
|
APN |
10 |
51,491,968 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2015-10-21 |