Incidental Mutation 'R1495:Gprc6a'
| ID |
168793 |
| 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 |
039546-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1495 (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 A
at 51504533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 104
(T104S)
|
| 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: T104S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: T104S
| 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: T104S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219286
AA Change: T104S
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4833420G17Rik |
A |
G |
13: 119,614,356 (GRCm39) |
N488S |
probably benign |
Het |
| Acot10 |
G |
A |
15: 20,665,593 (GRCm39) |
R383C |
probably damaging |
Het |
| Acsm2 |
A |
G |
7: 119,177,349 (GRCm39) |
D263G |
probably damaging |
Het |
| Adcy2 |
G |
T |
13: 68,944,654 (GRCm39) |
Q243K |
probably benign |
Het |
| Aggf1 |
G |
A |
13: 95,492,921 (GRCm39) |
R563* |
probably null |
Het |
| Agt |
A |
G |
8: 125,286,194 (GRCm39) |
F296S |
probably damaging |
Het |
| Akap14 |
T |
C |
X: 36,427,618 (GRCm39) |
D39G |
possibly damaging |
Het |
| Akt3 |
T |
C |
1: 176,930,608 (GRCm39) |
M117V |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,682,450 (GRCm39) |
T1154A |
probably benign |
Het |
| Arvcf |
T |
A |
16: 18,207,251 (GRCm39) |
L70Q |
probably damaging |
Het |
| Ccdc171 |
A |
T |
4: 83,599,332 (GRCm39) |
K724* |
probably null |
Het |
| Ccdc91 |
A |
G |
6: 147,435,670 (GRCm39) |
T85A |
possibly damaging |
Het |
| Ccdc9b |
T |
G |
2: 118,591,013 (GRCm39) |
K173N |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,265,629 (GRCm39) |
T224I |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,426,876 (GRCm39) |
I482V |
probably benign |
Het |
| Cnot9 |
A |
G |
1: 74,562,759 (GRCm39) |
E176G |
probably damaging |
Het |
| Cntnap4 |
T |
G |
8: 113,608,395 (GRCm39) |
L1272V |
possibly damaging |
Het |
| Cyb5a |
T |
A |
18: 84,869,605 (GRCm39) |
M1K |
probably null |
Het |
| Cyp2c23 |
A |
G |
19: 43,993,947 (GRCm39) |
I473T |
probably benign |
Het |
| Dbil5 |
T |
A |
11: 76,109,276 (GRCm39) |
M60K |
probably benign |
Het |
| Defa38 |
T |
A |
8: 21,585,217 (GRCm39) |
Q75L |
probably benign |
Het |
| Dgkg |
A |
T |
16: 22,319,129 (GRCm39) |
L644Q |
probably damaging |
Het |
| Disp3 |
T |
C |
4: 148,334,282 (GRCm39) |
I1004V |
probably benign |
Het |
| Egf |
T |
A |
3: 129,506,655 (GRCm39) |
I599F |
probably damaging |
Het |
| Epc2 |
A |
G |
2: 49,426,675 (GRCm39) |
T145A |
probably damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Extl3 |
A |
T |
14: 65,313,316 (GRCm39) |
V622E |
probably benign |
Het |
| Fam227a |
C |
T |
15: 79,510,446 (GRCm39) |
V403I |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,153,499 (GRCm39) |
D3571V |
probably benign |
Het |
| Fcho2 |
A |
G |
13: 98,886,358 (GRCm39) |
|
probably null |
Het |
| Fras1 |
A |
G |
5: 96,676,445 (GRCm39) |
N64S |
possibly damaging |
Het |
| Gabbr1 |
A |
G |
17: 37,366,832 (GRCm39) |
N352S |
possibly damaging |
Het |
| Gabra1 |
T |
C |
11: 42,045,771 (GRCm39) |
N113S |
probably damaging |
Het |
| Glg1 |
T |
C |
8: 111,924,307 (GRCm39) |
Y227C |
probably damaging |
Het |
| Gm5141 |
A |
T |
13: 62,922,084 (GRCm39) |
C362S |
probably damaging |
Het |
| Jph1 |
A |
C |
1: 17,161,876 (GRCm39) |
V262G |
probably benign |
Het |
| Kank1 |
C |
G |
19: 25,387,713 (GRCm39) |
T434R |
probably damaging |
Het |
| Kmt2e |
A |
G |
5: 23,704,325 (GRCm39) |
S1173G |
possibly damaging |
Het |
| Krt75 |
G |
A |
15: 101,482,308 (GRCm39) |
|
probably benign |
Het |
| Lyzl1 |
G |
T |
18: 4,181,192 (GRCm39) |
W77L |
probably null |
Het |
| Nipbl |
T |
G |
15: 8,380,764 (GRCm39) |
N676T |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,970,986 (GRCm39) |
S2300N |
probably damaging |
Het |
| Or9a2 |
T |
G |
6: 41,748,837 (GRCm39) |
Y132S |
probably damaging |
Het |
| Osbpl1a |
T |
A |
18: 12,891,896 (GRCm39) |
M350L |
probably benign |
Het |
| Pecam1 |
T |
C |
11: 106,579,682 (GRCm39) |
D460G |
probably damaging |
Het |
| Pik3c2a |
T |
A |
7: 115,987,300 (GRCm39) |
K540N |
probably benign |
Het |
| Prdm12 |
T |
A |
2: 31,530,205 (GRCm39) |
I32N |
probably damaging |
Het |
| Prkd1 |
T |
C |
12: 50,413,135 (GRCm39) |
S679G |
probably damaging |
Het |
| Psen2 |
C |
T |
1: 180,056,419 (GRCm39) |
A393T |
probably damaging |
Het |
| Ptprh |
T |
A |
7: 4,583,888 (GRCm39) |
T235S |
probably benign |
Het |
| Ranbp3 |
C |
T |
17: 57,012,527 (GRCm39) |
P182L |
probably benign |
Het |
| Serpinb7 |
A |
T |
1: 107,379,390 (GRCm39) |
K266* |
probably null |
Het |
| Sesn3 |
T |
C |
9: 14,219,817 (GRCm39) |
S69P |
probably damaging |
Het |
| Slc12a6 |
T |
C |
2: 112,184,535 (GRCm39) |
M818T |
probably damaging |
Het |
| Slc25a53 |
C |
A |
X: 135,916,084 (GRCm39) |
C4F |
unknown |
Het |
| Snx1 |
T |
A |
9: 66,003,879 (GRCm39) |
L255F |
probably benign |
Het |
| Sptbn2 |
T |
G |
19: 4,769,004 (GRCm39) |
S46A |
possibly damaging |
Het |
| Taf4 |
A |
G |
2: 179,574,820 (GRCm39) |
F595S |
probably damaging |
Het |
| Tec |
A |
T |
5: 72,944,098 (GRCm39) |
V103E |
probably damaging |
Het |
| Tmco5b |
T |
C |
2: 113,121,136 (GRCm39) |
S147P |
possibly damaging |
Het |
| Uchl5 |
C |
T |
1: 143,675,675 (GRCm39) |
T93I |
possibly damaging |
Het |
| Usp14 |
A |
T |
18: 10,004,994 (GRCm39) |
S225T |
probably benign |
Het |
| Usp45 |
C |
A |
4: 21,797,385 (GRCm39) |
Q238K |
possibly damaging |
Het |
| Vmn1r6 |
T |
A |
6: 56,980,058 (GRCm39) |
M218K |
possibly damaging |
Het |
| Zfp84 |
T |
A |
7: 29,476,728 (GRCm39) |
Y473* |
probably null |
Het |
| Zyg11b |
G |
A |
4: 108,123,410 (GRCm39) |
P186S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GACCGCGATGGATGTTTCAGAGT -3'
(R):5'- TGGCTGCAATCATGGCACTAAGG -3'
Sequencing Primer
(F):5'- TGTTTCAGAGTAGCCAGCAC -3'
(R):5'- CTCTGGCTATGATACACAGCATT -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation