Incidental Mutation 'R6807:Gprc6a'
| ID |
533607 |
| 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 |
044920-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6807 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
51490919-51507554 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 51502841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Stop codon
at position 341
(Q341*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151341
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020062]
[ENSMUST00000218684]
[ENSMUST00000219286]
|
| AlphaFold |
Q8K4Z6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020062
AA Change: Q341*
|
| SMART Domains |
Protein: ENSMUSP00000020062
Gene: ENSMUSG00000019905
AA Change: Q341*
| 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 null
Transcript: ENSMUST00000219286
AA Change: Q341*
|
| Meta Mutation Damage Score |
0.9717 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.9%
|
| Validation Efficiency |
100% (72/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,282,356 (GRCm39) |
T2158A |
probably benign |
Het |
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Apol7a |
T |
C |
15: 77,277,520 (GRCm39) |
|
probably null |
Het |
| Bicdl1 |
C |
T |
5: 115,810,202 (GRCm39) |
|
probably null |
Het |
| Bop1 |
T |
A |
15: 76,339,183 (GRCm39) |
Q362L |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,949,930 (GRCm39) |
D1418G |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,214,650 (GRCm39) |
V1455A |
possibly damaging |
Het |
| Cecr2 |
T |
G |
6: 120,711,503 (GRCm39) |
|
probably null |
Het |
| Cer1 |
T |
C |
4: 82,801,052 (GRCm39) |
S204G |
probably benign |
Het |
| Cers3 |
G |
C |
7: 66,413,968 (GRCm39) |
W15C |
probably damaging |
Het |
| Csn1s2a |
A |
T |
5: 87,929,731 (GRCm39) |
H110L |
probably benign |
Het |
| Dnah10 |
T |
G |
5: 124,867,064 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,041,718 (GRCm39) |
N3315S |
probably benign |
Het |
| Dynlrb2 |
T |
C |
8: 117,234,299 (GRCm39) |
M21T |
probably benign |
Het |
| Emilin1 |
T |
A |
5: 31,072,871 (GRCm39) |
F103I |
probably benign |
Het |
| Esrra |
T |
A |
19: 6,889,142 (GRCm39) |
M416L |
probably benign |
Het |
| Etaa1 |
C |
A |
11: 17,902,680 (GRCm39) |
V86L |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,314,211 (GRCm39) |
S324P |
probably damaging |
Het |
| Fam90a1a |
T |
C |
8: 22,453,368 (GRCm39) |
V241A |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,589 (GRCm39) |
Q3414K |
probably benign |
Het |
| Gpr162 |
C |
T |
6: 124,838,164 (GRCm39) |
R162H |
probably damaging |
Het |
| Gpr21 |
T |
A |
2: 37,407,974 (GRCm39) |
Y173* |
probably null |
Het |
| Herc2 |
T |
A |
7: 55,814,670 (GRCm39) |
S2674R |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,186,995 (GRCm39) |
H9Q |
probably null |
Het |
| Hps1 |
A |
G |
19: 42,759,217 (GRCm39) |
V125A |
possibly damaging |
Het |
| Iba57 |
G |
T |
11: 59,049,440 (GRCm39) |
P243H |
probably damaging |
Het |
| Incenp |
G |
T |
19: 9,855,120 (GRCm39) |
A597E |
unknown |
Het |
| Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
| Klb |
G |
A |
5: 65,536,877 (GRCm39) |
V736M |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
| Krt73 |
T |
G |
15: 101,704,842 (GRCm39) |
E348A |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,674,577 (GRCm39) |
D134E |
probably benign |
Het |
| Limd2 |
T |
C |
11: 106,049,771 (GRCm39) |
T73A |
probably benign |
Het |
| Lrpprc |
A |
G |
17: 85,056,531 (GRCm39) |
S787P |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,268,208 (GRCm39) |
M6735T |
probably damaging |
Het |
| Mapkbp1 |
C |
A |
2: 119,851,640 (GRCm39) |
Q861K |
probably damaging |
Het |
| Mc4r |
T |
A |
18: 66,992,927 (GRCm39) |
N62I |
probably damaging |
Het |
| Metap1d |
G |
A |
2: 71,341,858 (GRCm39) |
V151I |
probably damaging |
Het |
| Nek2 |
T |
C |
1: 191,554,729 (GRCm39) |
V147A |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,108,530 (GRCm39) |
W324R |
probably damaging |
Het |
| Nol4l |
G |
T |
2: 153,325,746 (GRCm39) |
S113* |
probably null |
Het |
| Oc90 |
T |
A |
15: 65,761,463 (GRCm39) |
D185V |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,172 (GRCm39) |
F60S |
probably damaging |
Het |
| Or2v1 |
G |
A |
11: 49,025,805 (GRCm39) |
R262K |
probably damaging |
Het |
| Or4a71 |
G |
A |
2: 89,357,932 (GRCm39) |
T274M |
probably damaging |
Het |
| Or5m13 |
A |
T |
2: 85,748,382 (GRCm39) |
T38S |
possibly damaging |
Het |
| Or5p51 |
T |
A |
7: 107,444,797 (GRCm39) |
T48S |
possibly damaging |
Het |
| Or8g50 |
A |
T |
9: 39,648,914 (GRCm39) |
K268* |
probably null |
Het |
| Pcdha8 |
A |
G |
18: 37,127,401 (GRCm39) |
T628A |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,549,986 (GRCm39) |
|
probably null |
Het |
| Pdgfrb |
T |
C |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
| Pgm3 |
A |
T |
9: 86,438,555 (GRCm39) |
|
probably null |
Het |
| Pin1rt1 |
T |
A |
2: 104,545,063 (GRCm39) |
Y23F |
probably benign |
Het |
| Poli |
T |
A |
18: 70,663,222 (GRCm39) |
|
probably null |
Het |
| Pom121 |
C |
A |
5: 135,409,978 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5c |
A |
G |
12: 110,535,456 (GRCm39) |
D407G |
possibly damaging |
Het |
| Pramel28 |
A |
G |
4: 143,691,581 (GRCm39) |
S381P |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,180,515 (GRCm39) |
D116G |
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,099,251 (GRCm39) |
E255D |
probably benign |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,859 (GRCm39) |
Q88R |
probably damaging |
Het |
| Slc46a1 |
A |
G |
11: 78,357,790 (GRCm39) |
H281R |
probably damaging |
Het |
| Spata6 |
T |
C |
4: 111,642,012 (GRCm39) |
I294T |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,664,631 (GRCm39) |
|
probably null |
Het |
| Stag1 |
C |
T |
9: 100,826,903 (GRCm39) |
R957C |
probably damaging |
Het |
| Stk35 |
G |
A |
2: 129,643,573 (GRCm39) |
E186K |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,544,478 (GRCm39) |
V2165I |
probably damaging |
Het |
| Tmem53 |
T |
C |
4: 117,125,528 (GRCm39) |
S207P |
probably benign |
Het |
| Ugt2a3 |
A |
G |
5: 87,484,617 (GRCm39) |
F136L |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,957,577 (GRCm39) |
K795E |
probably damaging |
Het |
| Zbtb11 |
C |
A |
16: 55,810,865 (GRCm39) |
T341K |
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 |
|
|
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 |
|
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'- CGAACACTGCAAGCTGAATG -3'
(R):5'- GTTTTCAATCTCTTCACGAAAGCC -3'
Sequencing Primer
(F):5'- TGCTATAAATGAGTCCCGGC -3'
(R):5'- TCTCTTCACGAAAGCCATTGAAAGG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation