Incidental Mutation 'IGL01687:Gprc5b'
| ID |
103985 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01687
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
118571270-118594434 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118583209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 220
(F220S)
|
| 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: F220S
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000008878
Gene: ENSMUSG00000008734
AA Change: F220S
| 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: F220S
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
| Coding Region Coverage |
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
A |
1: 71,306,769 (GRCm39) |
|
probably benign |
Het |
| Cep290 |
C |
T |
10: 100,336,067 (GRCm39) |
T375M |
probably damaging |
Het |
| Col1a2 |
A |
T |
6: 4,520,258 (GRCm39) |
R348* |
probably null |
Het |
| Dph6 |
A |
T |
2: 114,475,259 (GRCm39) |
Y85* |
probably null |
Het |
| Etl4 |
C |
T |
2: 20,534,898 (GRCm39) |
H118Y |
probably damaging |
Het |
| Larp4 |
A |
G |
15: 99,894,369 (GRCm39) |
T213A |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,617,515 (GRCm39) |
|
probably benign |
Het |
| Myo5a |
T |
C |
9: 75,063,531 (GRCm39) |
V579A |
probably benign |
Het |
| Nol11 |
T |
C |
11: 107,077,695 (GRCm39) |
I65M |
probably damaging |
Het |
| Or2k2 |
A |
T |
4: 58,785,047 (GRCm39) |
L225Q |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,707,982 (GRCm39) |
|
probably benign |
Het |
| Prss30 |
T |
C |
17: 24,194,106 (GRCm39) |
T17A |
probably benign |
Het |
| Rab11fip3 |
A |
G |
17: 26,286,956 (GRCm39) |
L399P |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,257,243 (GRCm39) |
V396A |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,442,798 (GRCm39) |
S522P |
probably damaging |
Het |
| Vmn2r94 |
A |
T |
17: 18,473,574 (GRCm39) |
V484E |
possibly damaging |
Het |
| Zfp871 |
T |
A |
17: 32,994,618 (GRCm39) |
T167S |
probably benign |
Het |
| Zmat3 |
C |
T |
3: 32,395,680 (GRCm39) |
E276K |
probably damaging |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation