Incidental Mutation 'IGL02440:Gpr22'
| ID |
293411 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr22
|
| Ensembl Gene |
ENSMUSG00000044067 |
| Gene Name |
G protein-coupled receptor 22 |
| Synonyms |
2900068K05Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02440
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
31756866-31763882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 31759139 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 328
(I328V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056125
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036862]
[ENSMUST00000057783]
[ENSMUST00000174480]
[ENSMUST00000176710]
|
| AlphaFold |
Q8BZL4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036862
|
| SMART Domains |
Protein: ENSMUSP00000044797
Gene: ENSMUSG00000035933
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
9 |
23 |
N/A |
INTRINSIC |
|
Pfam:COG5
|
35 |
158 |
3.8e-37 |
PFAM |
|
Pfam:Vps51
|
37 |
120 |
1.8e-12 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057783
AA Change: I328V
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056125
Gene: ENSMUSG00000044067
AA Change: I328V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
58 |
64 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
95 |
403 |
2.3e-23 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000174480
|
| SMART Domains |
Protein: ENSMUSP00000134674
Gene: ENSMUSG00000044067
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
58 |
186 |
3.3e-11 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000176710
AA Change: I291V
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000134839
Gene: ENSMUSG00000044067
AA Change: I291V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
58 |
366 |
1.4e-26 |
PFAM |
|
| 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 is a member of the G-protein coupled receptor 1 family and encodes a multi-pass membrane protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit increased response to aortic banding including decreased fractional shortening and decompensated heart failure. [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 |
|---|
| Atp8a1 |
A |
G |
5: 67,824,777 (GRCm39) |
|
probably benign |
Het |
| Bmt2 |
C |
T |
6: 13,628,609 (GRCm39) |
R358Q |
probably damaging |
Het |
| C2cd6 |
A |
G |
1: 59,114,259 (GRCm39) |
I182T |
probably benign |
Het |
| Calr3 |
T |
C |
8: 73,185,276 (GRCm39) |
T100A |
probably benign |
Het |
| Cln3 |
T |
C |
7: 126,181,954 (GRCm39) |
K36R |
probably benign |
Het |
| Ddx25 |
C |
T |
9: 35,468,974 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,313,899 (GRCm39) |
V1677E |
probably damaging |
Het |
| Dnah10 |
A |
G |
5: 124,850,883 (GRCm39) |
E1684G |
probably damaging |
Het |
| Dnah9 |
A |
G |
11: 65,846,072 (GRCm39) |
S2989P |
probably damaging |
Het |
| F5 |
A |
T |
1: 164,034,635 (GRCm39) |
T1845S |
possibly damaging |
Het |
| Folh1 |
G |
T |
7: 86,383,312 (GRCm39) |
N478K |
probably benign |
Het |
| Itln1 |
C |
T |
1: 171,359,097 (GRCm39) |
A128T |
probably benign |
Het |
| Itprid1 |
A |
G |
6: 55,861,713 (GRCm39) |
T97A |
possibly damaging |
Het |
| Kank1 |
A |
G |
19: 25,410,272 (GRCm39) |
K1322R |
probably damaging |
Het |
| Klhdc2 |
A |
G |
12: 69,350,414 (GRCm39) |
Y153C |
probably damaging |
Het |
| Lonp2 |
T |
A |
8: 87,350,813 (GRCm39) |
M1K |
probably null |
Het |
| Mtor |
T |
A |
4: 148,630,886 (GRCm39) |
M2281K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,576,104 (GRCm39) |
N1378K |
probably benign |
Het |
| Myo1e |
G |
A |
9: 70,254,022 (GRCm39) |
R557H |
probably damaging |
Het |
| Nedd4l |
T |
C |
18: 65,296,244 (GRCm39) |
|
probably null |
Het |
| Or2r3 |
T |
C |
6: 42,449,100 (GRCm39) |
D4G |
probably benign |
Het |
| Or2t46 |
A |
T |
11: 58,472,035 (GRCm39) |
M122L |
probably damaging |
Het |
| Or2z9 |
T |
A |
8: 72,854,374 (GRCm39) |
F257I |
probably damaging |
Het |
| Or9i16 |
A |
T |
19: 13,865,223 (GRCm39) |
M117K |
probably damaging |
Het |
| Pcdh18 |
T |
C |
3: 49,699,052 (GRCm39) |
|
probably benign |
Het |
| Phldb1 |
T |
C |
9: 44,626,700 (GRCm39) |
T582A |
probably damaging |
Het |
| Plxna2 |
A |
T |
1: 194,428,458 (GRCm39) |
E509D |
probably benign |
Het |
| Poln |
A |
T |
5: 34,286,474 (GRCm39) |
D231E |
probably damaging |
Het |
| Prex2 |
G |
A |
1: 11,223,881 (GRCm39) |
R735Q |
possibly damaging |
Het |
| Prpf40b |
T |
C |
15: 99,204,747 (GRCm39) |
S263P |
probably damaging |
Het |
| Sfmbt2 |
C |
T |
2: 10,573,194 (GRCm39) |
A574V |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,058,310 (GRCm39) |
I152T |
probably damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Svep1 |
T |
C |
4: 58,145,293 (GRCm39) |
I391V |
probably benign |
Het |
| Tbx4 |
A |
G |
11: 85,781,720 (GRCm39) |
E80G |
probably damaging |
Het |
| Vmn2r22 |
A |
G |
6: 123,614,364 (GRCm39) |
Y409H |
probably benign |
Het |
| Zfp691 |
T |
G |
4: 119,027,493 (GRCm39) |
R246S |
probably damaging |
Het |
| Zfp846 |
T |
C |
9: 20,499,796 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpr22 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01517:Gpr22
|
APN |
12 |
31,758,709 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01521:Gpr22
|
APN |
12 |
31,758,709 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01533:Gpr22
|
APN |
12 |
31,758,709 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01585:Gpr22
|
APN |
12 |
31,759,336 (GRCm39) |
missense |
probably benign |
0.23 |
|
IGL01601:Gpr22
|
APN |
12 |
31,760,044 (GRCm39) |
splice site |
probably benign |
|
|
IGL01608:Gpr22
|
APN |
12 |
31,758,779 (GRCm39) |
nonsense |
probably null |
|
|
IGL02307:Gpr22
|
APN |
12 |
31,758,739 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02863:Gpr22
|
APN |
12 |
31,760,006 (GRCm39) |
missense |
probably benign |
0.36 |
|
IGL03163:Gpr22
|
APN |
12 |
31,759,171 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R0078:Gpr22
|
UTSW |
12 |
31,761,640 (GRCm39) |
missense |
probably benign |
|
|
R0358:Gpr22
|
UTSW |
12 |
31,759,981 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0395:Gpr22
|
UTSW |
12 |
31,759,461 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0452:Gpr22
|
UTSW |
12 |
31,758,793 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R0729:Gpr22
|
UTSW |
12 |
31,759,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1295:Gpr22
|
UTSW |
12 |
31,759,513 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1991:Gpr22
|
UTSW |
12 |
31,759,202 (GRCm39) |
missense |
probably benign |
|
|
R4201:Gpr22
|
UTSW |
12 |
31,758,912 (GRCm39) |
nonsense |
probably null |
|
|
R5203:Gpr22
|
UTSW |
12 |
31,759,787 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5505:Gpr22
|
UTSW |
12 |
31,759,724 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5541:Gpr22
|
UTSW |
12 |
31,759,348 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6218:Gpr22
|
UTSW |
12 |
31,761,616 (GRCm39) |
nonsense |
probably null |
|
|
R6844:Gpr22
|
UTSW |
12 |
31,759,951 (GRCm39) |
missense |
probably benign |
|
|
R7448:Gpr22
|
UTSW |
12 |
31,759,514 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7956:Gpr22
|
UTSW |
12 |
31,759,219 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8709:Gpr22
|
UTSW |
12 |
31,759,829 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9042:Gpr22
|
UTSW |
12 |
31,759,853 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9162:Gpr22
|
UTSW |
12 |
31,758,724 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation