Incidental Mutation 'R4788:Gprc6a'
| ID |
367261 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R4788 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
51490919-51507554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51491104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 811
(T811A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020062]
[ENSMUST00000218684]
[ENSMUST00000219286]
|
| AlphaFold |
Q8K4Z6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020062
AA Change: T882A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: T882A
| 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
AA Change: T707A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219286
AA Change: T811A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 98.4%
- 10x: 96.9%
- 20x: 94.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
G |
A |
3: 121,960,361 (GRCm39) |
D815N |
probably damaging |
Het |
| Abcc9 |
A |
T |
6: 142,566,456 (GRCm39) |
C1135* |
probably null |
Het |
| Ap3b1 |
G |
A |
13: 94,702,149 (GRCm39) |
M1067I |
unknown |
Het |
| Arhgap15 |
T |
C |
2: 43,638,902 (GRCm39) |
M1T |
probably null |
Het |
| Boc |
T |
C |
16: 44,320,796 (GRCm39) |
D288G |
probably damaging |
Het |
| Brsk1 |
G |
T |
7: 4,701,954 (GRCm39) |
|
probably null |
Het |
| Cabp1 |
T |
C |
5: 115,313,530 (GRCm39) |
N226S |
probably benign |
Het |
| Capn13 |
A |
T |
17: 73,644,427 (GRCm39) |
Y367* |
probably null |
Het |
| Ccdc191 |
A |
G |
16: 43,777,185 (GRCm39) |
E632G |
probably damaging |
Het |
| Cit |
T |
C |
5: 116,071,565 (GRCm39) |
S591P |
probably damaging |
Het |
| Ckmt1 |
T |
C |
2: 121,190,427 (GRCm39) |
V118A |
possibly damaging |
Het |
| Cndp2 |
T |
C |
18: 84,693,289 (GRCm39) |
N157S |
probably damaging |
Het |
| Col6a3 |
A |
G |
1: 90,700,672 (GRCm39) |
|
probably null |
Het |
| Coq2 |
A |
T |
5: 100,805,775 (GRCm39) |
V287E |
probably damaging |
Het |
| Cpa6 |
T |
C |
1: 10,478,502 (GRCm39) |
K278R |
possibly damaging |
Het |
| Cracdl |
A |
T |
1: 37,670,556 (GRCm39) |
I128K |
probably damaging |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Cyp3a25 |
A |
T |
5: 145,921,892 (GRCm39) |
Y347* |
probably null |
Het |
| Dcun1d4 |
G |
T |
5: 73,691,971 (GRCm39) |
W160L |
probably damaging |
Het |
| Dennd4c |
A |
G |
4: 86,738,200 (GRCm39) |
T994A |
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,582,760 (GRCm39) |
T229A |
probably benign |
Het |
| Dnah6 |
T |
A |
6: 73,106,513 (GRCm39) |
R1741S |
probably damaging |
Het |
| Dock1 |
T |
A |
7: 134,747,213 (GRCm39) |
V1508D |
probably damaging |
Het |
| Donson |
T |
C |
16: 91,484,721 (GRCm39) |
T117A |
possibly damaging |
Het |
| Dtnb |
A |
G |
12: 3,822,699 (GRCm39) |
D533G |
probably damaging |
Het |
| Fcrl5 |
A |
G |
3: 87,364,495 (GRCm39) |
N470S |
probably damaging |
Het |
| Focad |
T |
A |
4: 88,275,706 (GRCm39) |
V1105E |
unknown |
Het |
| Fry |
T |
C |
5: 150,323,101 (GRCm39) |
V1084A |
probably benign |
Het |
| Gabra1 |
G |
T |
11: 42,037,980 (GRCm39) |
R213S |
probably damaging |
Het |
| Gbp2b |
A |
C |
3: 142,317,171 (GRCm39) |
K509T |
probably benign |
Het |
| Hmgcs2 |
A |
G |
3: 98,198,400 (GRCm39) |
D101G |
probably damaging |
Het |
| Ifna11 |
G |
A |
4: 88,738,245 (GRCm39) |
W17* |
probably null |
Het |
| Ighv1-62-3 |
T |
A |
12: 115,424,672 (GRCm39) |
M100L |
probably benign |
Het |
| Lgmn |
T |
A |
12: 102,368,936 (GRCm39) |
Y181F |
probably benign |
Het |
| Map4k4 |
T |
C |
1: 40,043,076 (GRCm39) |
S644P |
probably benign |
Het |
| Med9 |
T |
A |
11: 59,839,266 (GRCm39) |
N58K |
probably benign |
Het |
| Nav1 |
C |
T |
1: 135,397,461 (GRCm39) |
A903T |
probably benign |
Het |
| Nop53 |
T |
C |
7: 15,676,240 (GRCm39) |
E153G |
possibly damaging |
Het |
| Nop56 |
G |
T |
2: 130,120,820 (GRCm39) |
V190L |
probably benign |
Het |
| Nyap2 |
A |
T |
1: 81,247,112 (GRCm39) |
M687L |
probably benign |
Het |
| Or4a81 |
G |
A |
2: 89,619,480 (GRCm39) |
S72F |
probably damaging |
Het |
| Or8g17 |
T |
C |
9: 38,930,217 (GRCm39) |
T207A |
probably benign |
Het |
| Or8g26 |
A |
G |
9: 39,095,908 (GRCm39) |
T145A |
probably benign |
Het |
| Osbp2 |
T |
C |
11: 3,813,320 (GRCm39) |
K183R |
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,611,487 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Pax1 |
A |
G |
2: 147,208,124 (GRCm39) |
Q244R |
possibly damaging |
Het |
| Pcdh9 |
C |
A |
14: 94,124,851 (GRCm39) |
V317F |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,361,417 (GRCm39) |
Q489L |
probably damaging |
Het |
| Poln |
A |
T |
5: 34,286,675 (GRCm39) |
S164R |
probably benign |
Het |
| Ptf1a |
T |
C |
2: 19,450,762 (GRCm39) |
S31P |
probably benign |
Het |
| Rasal3 |
A |
T |
17: 32,618,312 (GRCm39) |
D164E |
probably benign |
Het |
| Rnf170 |
A |
G |
8: 26,630,891 (GRCm39) |
E168G |
probably damaging |
Het |
| Rubcn |
A |
G |
16: 32,656,778 (GRCm39) |
|
probably null |
Het |
| Sec16b |
A |
T |
1: 157,389,094 (GRCm39) |
T830S |
possibly damaging |
Het |
| Sel1l3 |
A |
G |
5: 53,289,175 (GRCm39) |
V882A |
probably benign |
Het |
| Sfpq |
A |
G |
4: 126,919,791 (GRCm39) |
E512G |
probably damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,302,518 (GRCm39) |
L187P |
probably damaging |
Het |
| Skint6 |
C |
T |
4: 113,095,533 (GRCm39) |
G42D |
possibly damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,367,023 (GRCm39) |
I526V |
probably benign |
Het |
| Spmip7 |
T |
C |
11: 11,438,652 (GRCm39) |
|
probably null |
Het |
| Ssh2 |
A |
T |
11: 77,320,624 (GRCm39) |
N328Y |
probably damaging |
Het |
| Taok2 |
G |
A |
7: 126,467,304 (GRCm39) |
S167L |
possibly damaging |
Het |
| Tom1l2 |
A |
G |
11: 60,139,844 (GRCm39) |
L275P |
probably damaging |
Het |
| Trgv5 |
A |
G |
13: 19,376,724 (GRCm39) |
K57R |
probably benign |
Het |
| Tyrp1 |
C |
T |
4: 80,763,180 (GRCm39) |
R356* |
probably null |
Het |
| Zan |
A |
G |
5: 137,440,375 (GRCm39) |
L1953P |
unknown |
Het |
| Zfhx3 |
T |
C |
8: 109,520,842 (GRCm39) |
S655P |
probably damaging |
Het |
| Zmym1 |
T |
C |
4: 126,948,090 (GRCm39) |
T94A |
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 |
|
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 |
|
R4713:Gprc6a
|
UTSW |
10 |
51,507,553 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
PCR Primer
(F):5'- GATCACAGCGTCTCCTAGGAAC -3'
(R):5'- CTACCACATTCGGCAAGTATTTG -3'
Sequencing Primer
(F):5'- GCGTCTCCTAGGAACTCAATC -3'
(R):5'- CCGCCGTGGAGATTATAGTCATTC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation