Incidental Mutation 'R2842:Gprc5b'
| ID |
254325 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.504)
|
| Stock # |
R2842 (G1)
|
| Quality Score |
223 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118571270-118594434 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118583302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 189
(T189M)
|
| 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: T189M
PolyPhen 2
Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000008878
Gene: ENSMUSG00000008734
AA Change: T189M
| 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: T189M
PolyPhen 2
Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
|
| 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: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aplp2 |
C |
T |
9: 31,069,122 (GRCm39) |
R569Q |
probably benign |
Het |
| Arl8a |
T |
C |
1: 135,082,989 (GRCm39) |
S181P |
probably damaging |
Het |
| Armc8 |
A |
G |
9: 99,387,734 (GRCm39) |
S396P |
probably benign |
Het |
| Baz2b |
A |
G |
2: 59,743,348 (GRCm39) |
V1541A |
probably benign |
Het |
| Crebbp |
G |
A |
16: 3,927,062 (GRCm39) |
R628C |
probably damaging |
Het |
| Ep400 |
T |
A |
5: 110,846,681 (GRCm39) |
K295* |
probably null |
Het |
| Frem3 |
T |
A |
8: 81,395,978 (GRCm39) |
|
probably null |
Het |
| Gon4l |
T |
C |
3: 88,802,794 (GRCm39) |
V1135A |
probably damaging |
Het |
| Gucy2g |
C |
T |
19: 55,229,379 (GRCm39) |
C97Y |
probably damaging |
Het |
| Heatr5a |
T |
A |
12: 52,002,261 (GRCm39) |
K225M |
probably null |
Het |
| Heatr5a |
C |
T |
12: 52,002,260 (GRCm39) |
|
probably null |
Het |
| Insr |
A |
G |
8: 3,252,986 (GRCm39) |
I391T |
probably damaging |
Het |
| Lce1e |
T |
A |
3: 92,615,056 (GRCm39) |
H97L |
unknown |
Het |
| Macf1 |
A |
G |
4: 123,270,210 (GRCm39) |
V6647A |
probably damaging |
Het |
| Mast1 |
T |
C |
8: 85,650,537 (GRCm39) |
R399G |
probably damaging |
Het |
| Mast4 |
C |
A |
13: 102,872,939 (GRCm39) |
S1951I |
probably benign |
Het |
| Mdc1 |
C |
T |
17: 36,159,686 (GRCm39) |
P648S |
probably benign |
Het |
| Mgam |
T |
C |
6: 40,638,279 (GRCm39) |
F410L |
probably benign |
Het |
| Nr2e1 |
T |
C |
10: 42,444,441 (GRCm39) |
R223G |
probably damaging |
Het |
| Otud7b |
G |
A |
3: 96,043,905 (GRCm39) |
E19K |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,512,727 (GRCm39) |
S9P |
probably damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Plxna4 |
A |
G |
6: 32,192,566 (GRCm39) |
|
probably null |
Het |
| Prkag3 |
T |
C |
1: 74,780,334 (GRCm39) |
I444V |
probably benign |
Het |
| Rsph10b |
T |
G |
5: 143,916,710 (GRCm39) |
V310G |
possibly damaging |
Het |
| Tmem225 |
T |
C |
9: 40,061,097 (GRCm39) |
Y135H |
probably damaging |
Het |
| Tox2 |
G |
A |
2: 163,046,550 (GRCm39) |
|
probably benign |
Het |
| Ttc3 |
C |
T |
16: 94,232,857 (GRCm39) |
P1003L |
probably damaging |
Het |
| Wfikkn2 |
G |
A |
11: 94,129,085 (GRCm39) |
T352I |
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 |
|
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'- CGAAGAGGTACATGGTCATCC -3'
(R):5'- ACAATCTGCTCCATCCGACG -3'
Sequencing Primer
(F):5'- GTCATCCAGACCACCCAGATGAG -3'
(R):5'- ATCCGACGCTTCCTCTGGG -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation