Incidental Mutation 'R0095:Gpr3'
| ID |
17963 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr3
|
| Ensembl Gene |
ENSMUSG00000049649 |
| Gene Name |
G-protein coupled receptor 3 |
| Synonyms |
Gpcr3, Gpcr21 |
| MMRRC Submission |
038381-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.244)
|
| Stock # |
R0095 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
132936651-132939847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 132938597 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 25
(D25V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116032
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052090]
[ENSMUST00000105911]
[ENSMUST00000151025]
|
| AlphaFold |
P35413 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052090
AA Change: D25V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000062083
Gene: ENSMUSG00000049649
AA Change: D25V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
57 |
297 |
2.4e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105911
AA Change: D25V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000101531
Gene: ENSMUSG00000049649
AA Change: D25V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
24 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
57 |
297 |
2e-34 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150744
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151025
AA Change: D25V
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000116032
Gene: ENSMUSG00000049649
AA Change: D25V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1l9ha_
|
20 |
95 |
3e-3 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218998
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 88.6%
- 3x: 85.1%
- 10x: 74.3%
- 20x: 56.3%
|
| Validation Efficiency |
88% (50/57) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the G protein-coupled receptor family and is found in the cell membrane. G protein-coupled receptors, characterized by a seven transmembrane domain motif, are involved in translating outside signals into G protein mediated intracellular effects. The encoded protein activates adenylate cyclase and modulates amyloid-beta production in a mouse model, suggesting that it may play a role in Alzheimer's disease. [provided by RefSeq, Oct 2012]
PHENOTYPE: Mice homozygous for one allele display an increased thermal nociceptive threshold while females homozygous for another allele display age-related reproductive failure due to ovulation of a progressively increasing proportion of developmentally incompetent oocytes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adhfe1 |
T |
C |
1: 9,630,402 (GRCm39) |
I317T |
possibly damaging |
Het |
| Aldh3a2 |
C |
T |
11: 61,141,774 (GRCm39) |
G21D |
probably damaging |
Het |
| Alms1 |
C |
A |
6: 85,597,235 (GRCm39) |
T1156N |
possibly damaging |
Het |
| Anxa8 |
G |
A |
14: 33,808,028 (GRCm39) |
A6T |
probably benign |
Het |
| Arhgef4 |
C |
T |
1: 34,771,451 (GRCm39) |
Q86* |
probably null |
Het |
| Atp4a |
T |
A |
7: 30,420,160 (GRCm39) |
I769N |
probably damaging |
Het |
| Cacnb2 |
G |
T |
2: 14,963,586 (GRCm39) |
V61F |
probably damaging |
Het |
| Clcf1 |
T |
G |
19: 4,265,842 (GRCm39) |
|
probably benign |
Het |
| Cmah |
G |
T |
13: 24,620,668 (GRCm39) |
A301S |
probably benign |
Het |
| Col6a4 |
A |
G |
9: 105,952,555 (GRCm39) |
W448R |
probably benign |
Het |
| Csmd1 |
A |
T |
8: 16,283,065 (GRCm39) |
D630E |
probably damaging |
Het |
| Dock10 |
A |
T |
1: 80,501,788 (GRCm39) |
Y1434N |
probably benign |
Het |
| Etl4 |
A |
G |
2: 20,748,679 (GRCm39) |
D137G |
probably damaging |
Het |
| Fer |
A |
T |
17: 64,248,321 (GRCm39) |
E361V |
possibly damaging |
Het |
| Foxp2 |
C |
A |
6: 15,196,976 (GRCm39) |
A6E |
probably damaging |
Het |
| Gstm7 |
A |
T |
3: 107,837,879 (GRCm39) |
|
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,094,073 (GRCm39) |
V332A |
possibly damaging |
Het |
| Igsf10 |
A |
T |
3: 59,238,617 (GRCm39) |
Y521* |
probably null |
Het |
| Itk |
T |
C |
11: 46,233,279 (GRCm39) |
D266G |
probably damaging |
Het |
| Kdm1a |
C |
T |
4: 136,278,205 (GRCm39) |
R839H |
probably benign |
Het |
| Lypla1 |
T |
C |
1: 4,900,550 (GRCm39) |
|
probably benign |
Het |
| Mmp1a |
G |
A |
9: 7,465,621 (GRCm39) |
G186D |
possibly damaging |
Het |
| Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,960,027 (GRCm39) |
N307Y |
possibly damaging |
Het |
| Or5p81 |
A |
C |
7: 108,267,252 (GRCm39) |
I210L |
probably benign |
Het |
| Plekha5 |
T |
C |
6: 140,474,323 (GRCm39) |
F84L |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,049,534 (GRCm39) |
S562P |
probably benign |
Het |
| Rfx8 |
C |
T |
1: 39,724,696 (GRCm39) |
V222M |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,578,417 (GRCm39) |
|
probably benign |
Het |
| Rpl6 |
T |
G |
5: 121,343,902 (GRCm39) |
V115G |
possibly damaging |
Het |
| Sec16a |
A |
T |
2: 26,315,772 (GRCm39) |
|
probably null |
Het |
| Sema3d |
T |
C |
5: 12,613,314 (GRCm39) |
Y464H |
probably damaging |
Het |
| Sgo2a |
T |
A |
1: 58,054,714 (GRCm39) |
N299K |
probably benign |
Het |
| Tecrl |
T |
C |
5: 83,442,417 (GRCm39) |
|
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,320,969 (GRCm39) |
T1569A |
probably damaging |
Het |
| U2surp |
T |
C |
9: 95,382,737 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,979,291 (GRCm39) |
D567G |
probably damaging |
Het |
| Zfp532 |
A |
G |
18: 65,757,855 (GRCm39) |
Y596C |
probably damaging |
Het |
|
| Other mutations in Gpr3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02424:Gpr3
|
APN |
4 |
132,938,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02974:Gpr3
|
APN |
4 |
132,938,220 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R0532:Gpr3
|
UTSW |
4 |
132,937,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1831:Gpr3
|
UTSW |
4 |
132,938,454 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R2127:Gpr3
|
UTSW |
4 |
132,937,932 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4077:Gpr3
|
UTSW |
4 |
132,938,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4078:Gpr3
|
UTSW |
4 |
132,938,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5306:Gpr3
|
UTSW |
4 |
132,938,490 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5602:Gpr3
|
UTSW |
4 |
132,937,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5712:Gpr3
|
UTSW |
4 |
132,937,719 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5913:Gpr3
|
UTSW |
4 |
132,938,489 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7434:Gpr3
|
UTSW |
4 |
132,938,448 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7645:Gpr3
|
UTSW |
4 |
132,938,640 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7709:Gpr3
|
UTSW |
4 |
132,937,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8043:Gpr3
|
UTSW |
4 |
132,938,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8818:Gpr3
|
UTSW |
4 |
132,938,538 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9015:Gpr3
|
UTSW |
4 |
132,938,390 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9027:Gpr3
|
UTSW |
4 |
132,938,209 (GRCm39) |
nonsense |
probably null |
|
|
R9587:Gpr3
|
UTSW |
4 |
132,937,988 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2013-03-25 |
Incidental Mutation