Incidental Mutation 'IGL02995:Gprc6a'
| ID |
407100 |
| 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)
|
| Stock # |
IGL02995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
51490919-51507554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51502895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 323
(V323M)
|
| 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: V323M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: V323M
| 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 damaging
Transcript: ENSMUST00000219286
AA Change: V323M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,470,456 (GRCm39) |
V175A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,027,176 (GRCm39) |
R603Q |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,206,760 (GRCm39) |
S9P |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,647,477 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
C |
T |
8: 71,935,761 (GRCm39) |
V286I |
possibly damaging |
Het |
| Baz1a |
C |
T |
12: 54,947,232 (GRCm39) |
R1139H |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,452,953 (GRCm39) |
L29H |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,958,535 (GRCm39) |
|
probably benign |
Het |
| C8b |
T |
A |
4: 104,658,525 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,244,608 (GRCm39) |
S1283T |
probably damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,584,511 (GRCm39) |
*514W |
probably null |
Het |
| D2hgdh |
G |
T |
1: 93,757,558 (GRCm39) |
D158Y |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 139,008,980 (GRCm39) |
V228M |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,881,342 (GRCm39) |
L732* |
probably null |
Het |
| Gm21969 |
G |
A |
4: 139,335,009 (GRCm39) |
G348S |
probably benign |
Het |
| Gzme |
T |
A |
14: 56,356,166 (GRCm39) |
M111L |
probably damaging |
Het |
| Iars2 |
G |
T |
1: 185,035,498 (GRCm39) |
Q581K |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,845,647 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lats2 |
T |
C |
14: 57,937,805 (GRCm39) |
Y228C |
probably damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,216 (GRCm39) |
I700M |
probably damaging |
Het |
| Ltb |
A |
T |
17: 35,414,348 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,923,279 (GRCm39) |
|
probably benign |
Het |
| Or10a3 |
T |
A |
7: 108,480,198 (GRCm39) |
E205V |
probably damaging |
Het |
| Or11l3 |
A |
G |
11: 58,516,107 (GRCm39) |
M255T |
possibly damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,600 (GRCm39) |
H174Q |
probably damaging |
Het |
| Or1e35 |
G |
A |
11: 73,798,045 (GRCm39) |
T91M |
possibly damaging |
Het |
| Or1j17 |
C |
T |
2: 36,578,644 (GRCm39) |
P210L |
possibly damaging |
Het |
| Pgap1 |
A |
C |
1: 54,532,509 (GRCm39) |
I670S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,530 (GRCm39) |
I362N |
probably damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Prr27 |
T |
C |
5: 87,990,675 (GRCm39) |
S96P |
probably benign |
Het |
| Psip1 |
T |
A |
4: 83,381,954 (GRCm39) |
|
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,544,084 (GRCm39) |
H285Q |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,191,722 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
C |
A |
12: 100,540,258 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Snx6 |
T |
C |
12: 54,842,295 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,995,688 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
C |
4: 94,627,877 (GRCm39) |
|
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,651,509 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,244,871 (GRCm39) |
I353F |
probably benign |
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 |
|
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 |
|
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 |
Incidental Mutation