Incidental Mutation 'IGL03166:Gprc5b'
ID |
411626 |
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 non essential
(E-score: 0.405)
|
Stock # |
IGL03166
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
118571270-118594434 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 118583222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Serine
at position 216
(A216S)
|
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: A216S
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000008878 Gene: ENSMUSG00000008734 AA Change: A216S
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: A216S
PolyPhen 2
Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
|
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Ankfn1 |
G |
T |
11: 89,429,264 (GRCm39) |
A40D |
probably benign |
Het |
Arhgap20 |
T |
A |
9: 51,761,077 (GRCm39) |
I940K |
possibly damaging |
Het |
Arhgap24 |
T |
C |
5: 103,023,552 (GRCm39) |
|
probably benign |
Het |
Bdp1 |
T |
C |
13: 100,172,308 (GRCm39) |
T2103A |
probably benign |
Het |
Cep350 |
A |
G |
1: 155,739,346 (GRCm39) |
S2166P |
possibly damaging |
Het |
Dlg2 |
T |
C |
7: 91,549,938 (GRCm39) |
|
probably benign |
Het |
Fhip2b |
A |
T |
14: 70,827,616 (GRCm39) |
C160S |
probably damaging |
Het |
Fyco1 |
A |
T |
9: 123,657,452 (GRCm39) |
L908H |
probably benign |
Het |
Lamc1 |
A |
G |
1: 153,208,047 (GRCm39) |
V80A |
probably benign |
Het |
Lilra6 |
T |
C |
7: 3,915,626 (GRCm39) |
I370V |
possibly damaging |
Het |
Lim2 |
T |
A |
7: 43,080,047 (GRCm39) |
C11* |
probably null |
Het |
Lrp1b |
T |
A |
2: 41,001,050 (GRCm39) |
H2058L |
probably damaging |
Het |
Lrp3 |
G |
T |
7: 34,901,905 (GRCm39) |
L659I |
probably benign |
Het |
Lrrc8a |
T |
G |
2: 30,145,377 (GRCm39) |
S64A |
probably benign |
Het |
Lsr |
C |
T |
7: 30,661,522 (GRCm39) |
|
probably null |
Het |
Lyl1 |
C |
T |
8: 85,429,300 (GRCm39) |
P3L |
possibly damaging |
Het |
Man2c1 |
T |
A |
9: 57,046,382 (GRCm39) |
V479E |
probably damaging |
Het |
Mtf2 |
T |
A |
5: 108,254,586 (GRCm39) |
D462E |
probably benign |
Het |
Mx2 |
T |
C |
16: 97,347,990 (GRCm39) |
I205T |
probably damaging |
Het |
Nos1 |
T |
A |
5: 118,052,517 (GRCm39) |
|
probably benign |
Het |
Optc |
C |
T |
1: 133,831,530 (GRCm39) |
|
probably benign |
Het |
Or51e2 |
T |
C |
7: 102,391,254 (GRCm39) |
N319D |
probably benign |
Het |
Orm1 |
C |
A |
4: 63,262,831 (GRCm39) |
|
probably benign |
Het |
Pdzd8 |
T |
C |
19: 59,288,940 (GRCm39) |
E820G |
probably damaging |
Het |
Pkp1 |
A |
T |
1: 135,805,862 (GRCm39) |
M612K |
probably damaging |
Het |
Pno1 |
T |
A |
11: 17,154,513 (GRCm39) |
|
probably null |
Het |
Rbm34 |
T |
C |
8: 127,697,606 (GRCm39) |
Q35R |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,471,457 (GRCm39) |
Y4564* |
probably null |
Het |
Slc34a3 |
T |
C |
2: 25,122,186 (GRCm39) |
I140V |
probably damaging |
Het |
Slc43a1 |
T |
C |
2: 84,687,700 (GRCm39) |
I419T |
possibly damaging |
Het |
Sltm |
C |
A |
9: 70,450,251 (GRCm39) |
A17E |
possibly damaging |
Het |
Smpdl3b |
T |
C |
4: 132,468,842 (GRCm39) |
D125G |
probably benign |
Het |
Snorc |
A |
C |
1: 87,402,933 (GRCm39) |
|
probably benign |
Het |
Supt3 |
G |
T |
17: 45,234,106 (GRCm39) |
A48S |
probably damaging |
Het |
Tlr3 |
A |
G |
8: 45,855,965 (GRCm39) |
F72L |
probably benign |
Het |
Trim36 |
T |
C |
18: 46,345,388 (GRCm39) |
E15G |
probably benign |
Het |
Tubb4b-ps1 |
A |
T |
5: 7,229,965 (GRCm39) |
|
probably benign |
Het |
Vmn2r68 |
T |
C |
7: 84,871,331 (GRCm39) |
T651A |
probably benign |
Het |
Wdr76 |
G |
T |
2: 121,364,787 (GRCm39) |
V462F |
possibly damaging |
Het |
Wnk2 |
C |
A |
13: 49,224,520 (GRCm39) |
G1112* |
probably null |
Het |
Zfp868 |
A |
C |
8: 70,064,965 (GRCm39) |
C123W |
probably damaging |
Het |
Zyg11b |
T |
A |
4: 108,123,086 (GRCm39) |
M294L |
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 |
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 |
2016-08-02 |