Incidental Mutation 'R7143:Gprc6a'
| ID |
553553 |
| 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 |
045222-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7143 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
51490919-51507554 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 51490986 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 921
(R921H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020062
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020062]
[ENSMUST00000218684]
[ENSMUST00000219286]
|
| AlphaFold |
Q8K4Z6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020062
AA Change: R921H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: R921H
| 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: R746H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219286
AA Change: R850H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930516K23Rik |
C |
T |
7: 103,708,422 (GRCm39) |
C129Y |
probably damaging |
Het |
| Agbl4 |
A |
G |
4: 111,474,333 (GRCm39) |
N374S |
probably damaging |
Het |
| Agl |
A |
G |
3: 116,585,670 (GRCm39) |
S153P |
probably damaging |
Het |
| Akap6 |
T |
G |
12: 52,934,147 (GRCm39) |
D546E |
probably benign |
Het |
| Ankrd17 |
C |
A |
5: 90,433,820 (GRCm39) |
A650S |
possibly damaging |
Het |
| Ankrd53 |
A |
G |
6: 83,739,893 (GRCm39) |
R16G |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,394,165 (GRCm39) |
L570P |
probably damaging |
Het |
| Asap1 |
A |
G |
15: 64,063,377 (GRCm39) |
F101L |
probably damaging |
Het |
| Cadm4 |
T |
A |
7: 24,198,992 (GRCm39) |
I89N |
possibly damaging |
Het |
| Cadps |
C |
T |
14: 12,491,838 (GRCm38) |
V771I |
probably benign |
Het |
| Cenph |
A |
G |
13: 100,898,285 (GRCm39) |
V206A |
possibly damaging |
Het |
| Cenpn |
A |
G |
8: 117,663,966 (GRCm39) |
T253A |
probably benign |
Het |
| Cep120 |
C |
T |
18: 53,816,457 (GRCm39) |
G939R |
probably benign |
Het |
| Cfap57 |
G |
A |
4: 118,477,906 (GRCm39) |
|
probably benign |
Het |
| Clip1 |
T |
C |
5: 123,791,673 (GRCm39) |
I166V |
probably benign |
Het |
| Cstf3 |
T |
A |
2: 104,476,961 (GRCm39) |
V144E |
probably benign |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,300 (GRCm39) |
H357L |
probably damaging |
Het |
| Cyth3 |
T |
A |
5: 143,670,151 (GRCm39) |
V12E |
unknown |
Het |
| Dgat2 |
T |
C |
7: 98,806,331 (GRCm39) |
I289V |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,133,625 (GRCm39) |
C527R |
probably damaging |
Het |
| Dnah17 |
A |
C |
11: 117,976,956 (GRCm39) |
W1879G |
probably damaging |
Het |
| Dnai2 |
A |
G |
11: 114,645,076 (GRCm39) |
T504A |
possibly damaging |
Het |
| Efl1 |
C |
T |
7: 82,411,888 (GRCm39) |
P759L |
probably damaging |
Het |
| Egfr |
A |
C |
11: 16,821,627 (GRCm39) |
I351L |
probably benign |
Het |
| Ercc6 |
G |
A |
14: 32,292,262 (GRCm39) |
E1209K |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,351,000 (GRCm39) |
M292K |
probably benign |
Het |
| Fbxl7 |
C |
A |
15: 26,543,244 (GRCm39) |
V468L |
probably benign |
Het |
| Fhl2 |
G |
T |
1: 43,181,011 (GRCm39) |
H60N |
probably damaging |
Het |
| G6pc1 |
G |
T |
11: 101,261,549 (GRCm39) |
R83L |
probably damaging |
Het |
| Gata4 |
C |
A |
14: 63,442,066 (GRCm39) |
R252L |
probably damaging |
Het |
| Glt8d1 |
T |
A |
14: 30,728,602 (GRCm39) |
I10N |
probably damaging |
Het |
| Gm10803 |
T |
A |
2: 93,394,304 (GRCm39) |
Y25* |
probably null |
Het |
| Gm19345 |
T |
C |
7: 19,591,759 (GRCm39) |
F108S |
unknown |
Het |
| Gm4952 |
A |
G |
19: 12,595,771 (GRCm39) |
T54A |
possibly damaging |
Het |
| Hc |
A |
T |
2: 34,940,450 (GRCm39) |
H129Q |
probably benign |
Het |
| Heatr5a |
T |
C |
12: 52,008,251 (GRCm39) |
R31G |
probably benign |
Het |
| Hephl1 |
T |
C |
9: 14,972,106 (GRCm39) |
K945E |
possibly damaging |
Het |
| Ik |
G |
T |
18: 36,884,230 (GRCm39) |
M237I |
probably damaging |
Het |
| Izumo1 |
T |
A |
7: 45,276,519 (GRCm39) |
S361T |
probably benign |
Het |
| Kcnq4 |
A |
G |
4: 120,568,436 (GRCm39) |
F427L |
probably benign |
Het |
| Kifap3 |
T |
A |
1: 163,683,609 (GRCm39) |
M430K |
possibly damaging |
Het |
| Kifap3 |
A |
T |
1: 163,653,428 (GRCm39) |
N338I |
possibly damaging |
Het |
| Lamb3 |
A |
G |
1: 192,986,873 (GRCm39) |
E53G |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 41,202,655 (GRCm39) |
I1266K |
|
Het |
| Nat8 |
A |
T |
6: 85,807,485 (GRCm39) |
I216K |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,156,524 (GRCm39) |
I454V |
probably benign |
Het |
| Nlrp4f |
A |
T |
13: 65,343,120 (GRCm39) |
V153E |
probably damaging |
Het |
| Nlrp4f |
G |
C |
13: 65,347,166 (GRCm39) |
Q9E |
possibly damaging |
Het |
| Npy2r |
A |
T |
3: 82,448,250 (GRCm39) |
I175N |
probably benign |
Het |
| Nutm1 |
G |
A |
2: 112,080,401 (GRCm39) |
R505C |
probably damaging |
Het |
| Or1l4b |
A |
G |
2: 37,036,886 (GRCm39) |
T221A |
probably benign |
Het |
| Or4a74 |
T |
C |
2: 89,440,363 (GRCm39) |
M28V |
probably benign |
Het |
| Or52n3 |
C |
T |
7: 104,530,393 (GRCm39) |
P160S |
probably damaging |
Het |
| Pcdh9 |
T |
C |
14: 94,125,708 (GRCm39) |
N154S |
probably damaging |
Het |
| Pcdhb2 |
A |
T |
18: 37,428,934 (GRCm39) |
E302D |
probably benign |
Het |
| Pclo |
T |
A |
5: 14,908,836 (GRCm39) |
V5048E |
unknown |
Het |
| Pcnt |
A |
G |
10: 76,224,894 (GRCm39) |
L1870S |
possibly damaging |
Het |
| Pigc |
T |
C |
1: 161,798,161 (GRCm39) |
Y48H |
probably damaging |
Het |
| Pisd |
C |
T |
5: 32,895,846 (GRCm39) |
V241I |
possibly damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,437,033 (GRCm39) |
M3464L |
possibly damaging |
Het |
| Pofut2 |
T |
A |
10: 77,095,260 (GRCm39) |
I35N |
probably benign |
Het |
| Prss27 |
A |
G |
17: 24,264,632 (GRCm39) |
Y265C |
probably damaging |
Het |
| Prss56 |
T |
A |
1: 87,115,875 (GRCm39) |
I583K |
probably benign |
Het |
| Rnpep |
T |
C |
1: 135,211,487 (GRCm39) |
E87G |
probably benign |
Het |
| Shtn1 |
T |
C |
19: 59,007,338 (GRCm39) |
H304R |
probably damaging |
Het |
| Slc23a4 |
A |
T |
6: 34,955,848 (GRCm39) |
I62N |
probably damaging |
Het |
| Slc35e2 |
A |
T |
4: 155,703,051 (GRCm39) |
I355F |
probably benign |
Het |
| Snx25 |
T |
C |
8: 46,488,752 (GRCm39) |
I868V |
possibly damaging |
Het |
| Spatc1l |
T |
A |
10: 76,405,765 (GRCm39) |
L323Q |
probably damaging |
Het |
| Speer4a2 |
T |
A |
5: 26,290,674 (GRCm39) |
I166F |
probably benign |
Het |
| Taok1 |
A |
G |
11: 77,428,814 (GRCm39) |
V962A |
probably benign |
Het |
| Tas2r140 |
A |
G |
6: 133,032,482 (GRCm39) |
I92T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,856,010 (GRCm39) |
Y22* |
probably null |
Het |
| Tti1 |
T |
A |
2: 157,849,596 (GRCm39) |
M548L |
probably benign |
Het |
| Unc93b1 |
T |
C |
19: 3,985,204 (GRCm39) |
V4A |
unknown |
Het |
| Utp3 |
G |
C |
5: 88,702,376 (GRCm39) |
|
probably benign |
Het |
| Vmn1r225 |
A |
T |
17: 20,722,646 (GRCm39) |
Y29F |
probably benign |
Het |
| Vmn1r34 |
A |
T |
6: 66,614,648 (GRCm39) |
I30N |
probably benign |
Het |
| Vmn2r67 |
T |
A |
7: 84,801,846 (GRCm39) |
M152L |
probably benign |
Het |
| Wdr20rt |
T |
G |
12: 65,272,692 (GRCm39) |
F52V |
probably benign |
Het |
| Zfp869 |
G |
T |
8: 70,159,306 (GRCm39) |
H422Q |
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 |
|
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 |
|
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'- AAACAGTGTTCAAGCAAATGGC -3'
(R):5'- ACAACTACTCTGCTCACAGTG -3'
Sequencing Primer
(F):5'- TGGCAGGAAAAAAAAATCCC -3'
(R):5'- AACTACTCTGCTCACAGTGTGGAC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation