Incidental Mutation 'R3802:Gprc5b'
ID |
274359 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gprc5b
|
Ensembl Gene |
ENSMUSG00000008734 |
Gene Name |
G protein-coupled receptor, family C, group 5, member B |
Synonyms |
hypothetical protein, clone 2-63 |
MMRRC Submission |
040761-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.405)
|
Stock # |
R3802 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
118571270-118594434 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 118582943 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Asparagine
at position 309
(D309N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008878]
[ENSMUST00000208394]
|
AlphaFold |
Q923Z0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000008878
AA Change: D309N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000008878 Gene: ENSMUSG00000008734 AA Change: D309N
Domain | Start | End | E-Value | Type |
Pfam:7tm_3
|
67 |
294 |
2e-33 |
PFAM |
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000208394
AA Change: D309N
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.1350 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
100% (47/47) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The encoded protein may modulate insulin secretion and increased protein expression is associated with type 2 diabetes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015] PHENOTYPE: Mice homozygous for a reporter allele exhibit partial neonatal and postnatal lethality, altered spontaneous activity pattern, and decreased response to a new environment. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
A |
T |
4: 144,430,074 (GRCm39) |
L305Q |
possibly damaging |
Het |
Abcc2 |
C |
A |
19: 43,810,065 (GRCm39) |
N874K |
probably benign |
Het |
Axl |
A |
T |
7: 25,487,902 (GRCm39) |
M1K |
probably null |
Het |
Btaf1 |
A |
T |
19: 36,963,948 (GRCm39) |
T840S |
probably benign |
Het |
Btaf1 |
A |
T |
19: 36,966,373 (GRCm39) |
H1047L |
probably benign |
Het |
Capn13 |
G |
A |
17: 73,646,396 (GRCm39) |
P339L |
probably benign |
Het |
Ccdc39 |
A |
T |
3: 33,874,044 (GRCm39) |
M596K |
probably damaging |
Het |
Cfap20dc |
G |
T |
14: 8,510,931 (GRCm38) |
D494E |
probably benign |
Het |
Cfap58 |
G |
T |
19: 47,941,498 (GRCm39) |
D289Y |
possibly damaging |
Het |
Cnn2 |
A |
G |
10: 79,829,329 (GRCm39) |
D153G |
probably benign |
Het |
Cstdc2 |
T |
C |
2: 148,692,616 (GRCm39) |
H62R |
probably benign |
Het |
Cubn |
T |
C |
2: 13,365,164 (GRCm39) |
I1625V |
probably benign |
Het |
Grm8 |
T |
G |
6: 28,125,635 (GRCm39) |
N164H |
possibly damaging |
Het |
Gstm3 |
G |
A |
3: 107,871,551 (GRCm39) |
T210I |
probably benign |
Het |
Hhipl1 |
A |
G |
12: 108,278,566 (GRCm39) |
E298G |
probably benign |
Het |
Hivep2 |
A |
G |
10: 14,024,705 (GRCm39) |
D2173G |
possibly damaging |
Het |
Hsd17b8 |
A |
T |
17: 34,245,441 (GRCm39) |
V231E |
probably damaging |
Het |
Jarid2 |
T |
A |
13: 45,056,307 (GRCm39) |
N365K |
probably benign |
Het |
Kank4 |
A |
G |
4: 98,668,370 (GRCm39) |
S26P |
probably damaging |
Het |
Kpnb1 |
A |
T |
11: 97,056,955 (GRCm39) |
V638E |
possibly damaging |
Het |
Lipo3 |
C |
T |
19: 33,762,257 (GRCm39) |
C80Y |
probably damaging |
Het |
Mga |
T |
A |
2: 119,777,820 (GRCm39) |
N1788K |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Mtmr10 |
A |
G |
7: 63,970,376 (GRCm39) |
Y373C |
probably benign |
Het |
Ncoa6 |
C |
T |
2: 155,247,484 (GRCm39) |
G1940D |
probably benign |
Het |
Nelfe |
T |
A |
17: 35,072,877 (GRCm39) |
F166L |
possibly damaging |
Het |
Nfatc3 |
A |
G |
8: 106,806,277 (GRCm39) |
Y374C |
probably damaging |
Het |
Nhlrc3 |
A |
G |
3: 53,366,052 (GRCm39) |
V147A |
possibly damaging |
Het |
Or51f1d |
A |
G |
7: 102,701,372 (GRCm39) |
Y289C |
probably benign |
Het |
Or8g33 |
G |
A |
9: 39,337,582 (GRCm39) |
P262S |
probably damaging |
Het |
Pak3 |
G |
A |
X: 142,492,727 (GRCm39) |
V87I |
probably damaging |
Het |
Papolg |
A |
T |
11: 23,826,449 (GRCm39) |
I235N |
probably damaging |
Het |
Pdgfrl |
T |
C |
8: 41,438,594 (GRCm39) |
S177P |
probably damaging |
Het |
Phf8 |
T |
C |
X: 150,355,572 (GRCm39) |
S512P |
possibly damaging |
Het |
Plaa |
T |
C |
4: 94,458,125 (GRCm39) |
D615G |
probably damaging |
Het |
Prpf4b |
T |
C |
13: 35,067,665 (GRCm39) |
|
probably benign |
Het |
Sgk1 |
T |
C |
10: 21,873,311 (GRCm39) |
V259A |
probably damaging |
Het |
Skint4 |
G |
T |
4: 111,975,378 (GRCm39) |
V113L |
probably damaging |
Het |
Smco1 |
A |
G |
16: 32,092,716 (GRCm39) |
Y129C |
probably benign |
Het |
Tas2r106 |
C |
A |
6: 131,655,329 (GRCm39) |
S174I |
probably benign |
Het |
Tektl1 |
A |
C |
10: 78,584,314 (GRCm39) |
F367C |
probably damaging |
Het |
Tsn |
A |
T |
1: 118,233,026 (GRCm39) |
F93I |
probably damaging |
Het |
Vav2 |
T |
C |
2: 27,157,235 (GRCm39) |
|
probably benign |
Het |
Vmn2r63 |
A |
T |
7: 42,552,829 (GRCm39) |
M809K |
probably damaging |
Het |
Zfp260 |
G |
A |
7: 29,804,504 (GRCm39) |
E135K |
probably benign |
Het |
Zfp808 |
T |
A |
13: 62,319,897 (GRCm39) |
H375Q |
probably damaging |
Het |
Zkscan2 |
A |
T |
7: 123,094,365 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Gprc5b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01106:Gprc5b
|
APN |
7 |
118,583,084 (GRCm39) |
missense |
probably benign |
|
IGL01687:Gprc5b
|
APN |
7 |
118,583,209 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02937:Gprc5b
|
APN |
7 |
118,583,017 (GRCm39) |
missense |
probably benign |
0.36 |
IGL03088:Gprc5b
|
APN |
7 |
118,582,856 (GRCm39) |
missense |
probably benign |
0.08 |
IGL03106:Gprc5b
|
APN |
7 |
118,583,416 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03166:Gprc5b
|
APN |
7 |
118,583,222 (GRCm39) |
missense |
probably benign |
0.20 |
R0189:Gprc5b
|
UTSW |
7 |
118,582,856 (GRCm39) |
missense |
probably benign |
0.08 |
R0588:Gprc5b
|
UTSW |
7 |
118,583,218 (GRCm39) |
missense |
probably benign |
|
R1563:Gprc5b
|
UTSW |
7 |
118,582,984 (GRCm39) |
missense |
probably benign |
0.22 |
R2126:Gprc5b
|
UTSW |
7 |
118,583,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R2842:Gprc5b
|
UTSW |
7 |
118,583,302 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3153:Gprc5b
|
UTSW |
7 |
118,575,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R3978:Gprc5b
|
UTSW |
7 |
118,583,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R4007:Gprc5b
|
UTSW |
7 |
118,583,437 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4183:Gprc5b
|
UTSW |
7 |
118,583,749 (GRCm39) |
missense |
probably benign |
0.03 |
R4297:Gprc5b
|
UTSW |
7 |
118,583,437 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4298:Gprc5b
|
UTSW |
7 |
118,583,437 (GRCm39) |
missense |
possibly damaging |
0.55 |
R4299:Gprc5b
|
UTSW |
7 |
118,583,437 (GRCm39) |
missense |
possibly damaging |
0.55 |
R5286:Gprc5b
|
UTSW |
7 |
118,582,910 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6492:Gprc5b
|
UTSW |
7 |
118,583,800 (GRCm39) |
missense |
possibly damaging |
0.68 |
R6606:Gprc5b
|
UTSW |
7 |
118,583,296 (GRCm39) |
missense |
probably benign |
0.00 |
R7085:Gprc5b
|
UTSW |
7 |
118,582,855 (GRCm39) |
missense |
probably damaging |
0.97 |
R7312:Gprc5b
|
UTSW |
7 |
118,583,482 (GRCm39) |
missense |
probably damaging |
1.00 |
R7593:Gprc5b
|
UTSW |
7 |
118,583,492 (GRCm39) |
missense |
probably damaging |
1.00 |
R9180:Gprc5b
|
UTSW |
7 |
118,583,542 (GRCm39) |
missense |
probably damaging |
1.00 |
R9383:Gprc5b
|
UTSW |
7 |
118,575,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AAAATTATCTCTGAGCCAGCGTTAG -3'
(R):5'- TGACCATGTACCTCTTCGGC -3'
Sequencing Primer
(F):5'- TTAGCAGGGGAGCCATTCG -3'
(R):5'- TCGGCAACTCATTAATTAAGCAGGG -3'
|
Posted On |
2015-04-02 |