Incidental Mutation 'R0588:Gprc5b'
ID |
55836 |
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 |
038778-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.405)
|
Stock # |
R0588 (G1)
|
Quality Score |
163 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
118571270-118594434 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 118583218 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 217
(Q217L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000146777
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000008878]
[ENSMUST00000208394]
|
AlphaFold |
Q923Z0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000008878
AA Change: Q217L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000008878 Gene: ENSMUSG00000008734 AA Change: Q217L
Domain | Start | End | E-Value | Type |
Pfam:7tm_3
|
67 |
294 |
2e-33 |
PFAM |
low complexity region
|
360 |
371 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000208394
AA Change: Q217L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 94.8%
|
Validation Efficiency |
100% (25/25) |
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
T |
A |
6: 142,548,787 (GRCm39) |
K1299* |
probably null |
Het |
Adamts2 |
G |
T |
11: 50,667,491 (GRCm39) |
W476C |
probably damaging |
Het |
Ankrd13c |
T |
C |
3: 157,711,454 (GRCm39) |
F525L |
probably damaging |
Het |
Arg1 |
T |
C |
10: 24,796,522 (GRCm39) |
S102G |
probably damaging |
Het |
Atp2a3 |
A |
T |
11: 72,863,850 (GRCm39) |
D192V |
possibly damaging |
Het |
Cabin1 |
T |
C |
10: 75,581,171 (GRCm39) |
E385G |
possibly damaging |
Het |
Cacna1h |
A |
T |
17: 25,606,538 (GRCm39) |
D1020E |
probably damaging |
Het |
Calcb |
C |
T |
7: 114,319,361 (GRCm39) |
H48Y |
probably benign |
Het |
Crtc1 |
A |
G |
8: 70,892,199 (GRCm39) |
S4P |
probably damaging |
Het |
Dcaf6 |
A |
G |
1: 165,247,792 (GRCm39) |
I147T |
possibly damaging |
Het |
Ears2 |
T |
C |
7: 121,643,514 (GRCm39) |
|
probably benign |
Het |
Fas |
T |
C |
19: 34,304,540 (GRCm39) |
V267A |
probably damaging |
Het |
Fus |
T |
C |
7: 127,584,746 (GRCm39) |
L84P |
probably damaging |
Het |
Fyb1 |
T |
C |
15: 6,609,940 (GRCm39) |
V171A |
probably benign |
Het |
Gdap2 |
T |
A |
3: 100,077,317 (GRCm39) |
M1K |
probably null |
Het |
Lrrc69 |
A |
G |
4: 14,704,001 (GRCm39) |
I273T |
possibly damaging |
Het |
Map4k4 |
C |
A |
1: 40,044,024 (GRCm39) |
Q556K |
possibly damaging |
Het |
Npy6r |
T |
A |
18: 44,408,888 (GRCm39) |
V103E |
possibly damaging |
Het |
Or5b24 |
A |
G |
19: 12,912,111 (GRCm39) |
Y3C |
probably benign |
Het |
Shisa9 |
A |
G |
16: 12,085,638 (GRCm39) |
T416A |
probably damaging |
Het |
Slc26a9 |
C |
A |
1: 131,681,749 (GRCm39) |
|
probably benign |
Het |
Sostdc1 |
G |
T |
12: 36,367,020 (GRCm39) |
|
probably benign |
Het |
St18 |
T |
A |
1: 6,887,962 (GRCm39) |
F510L |
probably damaging |
Het |
Zdhhc7 |
A |
G |
8: 120,810,106 (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 |
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 |
R3802:Gprc5b
|
UTSW |
7 |
118,582,943 (GRCm39) |
missense |
possibly damaging |
0.92 |
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'- ATCCTGGGCTGTGAAGTGTCGAAG -3'
(R):5'- TGGACGAGACAATCTGCTCCATCC -3'
Sequencing Primer
(F):5'- AGAAGGGTGTAGTGGATCTCC -3'
(R):5'- AATCTGCTCCATCCGACGC -3'
|
Posted On |
2013-07-11 |