Incidental Mutation 'R6606:Gprc5b'
| ID |
525684 |
| 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 |
044729-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.405)
|
| Stock # |
R6606 (G1)
|
| Quality Score |
81.0075 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118571270-118594434 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 118583296 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 191
(P191L)
|
| 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: P191L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000008878
Gene: ENSMUSG00000008734
AA Change: P191L
| 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: P191L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (35/35) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adal |
A |
G |
2: 120,980,769 (GRCm39) |
E21G |
probably damaging |
Het |
| Ankk1 |
T |
C |
9: 49,327,646 (GRCm39) |
Y511C |
probably benign |
Het |
| Atn1 |
G |
A |
6: 124,721,919 (GRCm39) |
|
probably benign |
Het |
| Ccnt2 |
C |
A |
1: 127,730,978 (GRCm39) |
S618R |
probably benign |
Het |
| Ces4a |
A |
G |
8: 105,876,010 (GRCm39) |
N517S |
possibly damaging |
Het |
| Chd4 |
C |
A |
6: 125,086,389 (GRCm39) |
T963K |
probably damaging |
Het |
| Crlf1 |
A |
G |
8: 70,953,824 (GRCm39) |
Y310C |
probably damaging |
Het |
| Cyyr1 |
A |
G |
16: 85,254,438 (GRCm39) |
Y155H |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,660,179 (GRCm39) |
I831N |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Echdc1 |
A |
G |
10: 29,189,711 (GRCm39) |
I17V |
probably benign |
Het |
| Ephx4 |
G |
T |
5: 107,560,931 (GRCm39) |
V28F |
probably damaging |
Het |
| Erich6 |
A |
G |
3: 58,523,921 (GRCm39) |
I651T |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,719,296 (GRCm39) |
Q31R |
possibly damaging |
Het |
| Fbxl17 |
A |
G |
17: 63,794,783 (GRCm39) |
V433A |
probably damaging |
Het |
| Gm20449 |
T |
C |
7: 41,108,253 (GRCm39) |
E39G |
unknown |
Het |
| Klhl1 |
T |
C |
14: 96,360,658 (GRCm39) |
T731A |
possibly damaging |
Het |
| Myo3b |
A |
G |
2: 70,062,829 (GRCm39) |
D371G |
possibly damaging |
Het |
| Or10n1 |
G |
A |
9: 39,525,378 (GRCm39) |
V172M |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,954,851 (GRCm39) |
C303F |
probably damaging |
Het |
| Parp10 |
C |
A |
15: 76,124,308 (GRCm39) |
V782L |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,041,763 (GRCm39) |
S501P |
probably damaging |
Het |
| Ptpn3 |
A |
T |
4: 57,265,104 (GRCm39) |
|
probably null |
Het |
| Ptprz1 |
A |
C |
6: 23,002,500 (GRCm39) |
H1530P |
probably benign |
Het |
| Rasa4 |
A |
G |
5: 136,132,801 (GRCm39) |
K18E |
probably damaging |
Het |
| Rit1 |
A |
G |
3: 88,624,945 (GRCm39) |
E48G |
probably damaging |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rspo3 |
C |
T |
10: 29,330,277 (GRCm39) |
R228K |
unknown |
Het |
| Scai |
A |
T |
2: 38,965,147 (GRCm39) |
S566T |
probably benign |
Het |
| Scn4a |
T |
C |
11: 106,218,899 (GRCm39) |
E973G |
probably benign |
Het |
| Slc15a3 |
T |
A |
19: 10,826,046 (GRCm39) |
F246I |
possibly damaging |
Het |
| Stfa3 |
T |
C |
16: 36,275,647 (GRCm39) |
D27G |
possibly damaging |
Het |
| Uba5 |
T |
C |
9: 103,932,420 (GRCm39) |
D181G |
probably damaging |
Het |
| Urb1 |
T |
C |
16: 90,607,156 (GRCm39) |
T25A |
probably benign |
Het |
| Zbtb43 |
G |
T |
2: 33,345,066 (GRCm39) |
S16Y |
probably damaging |
Het |
| Zyg11b |
G |
A |
4: 108,093,286 (GRCm39) |
A717V |
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 |
|
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 |
|
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'- GCCGAAGAGGTACATGGTCATC -3'
(R):5'- GAGACAATCTGCTCCATCCG -3'
Sequencing Primer
(F):5'- GTCATCCAGACCACCCAGATGAG -3'
(R):5'- ATCCGACGCTTCCTCTGGG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation