Incidental Mutation 'IGL01601:Gpr22'
| ID |
91791 |
| 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 # |
IGL01601
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
31756866-31763882 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 31760044 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134839
(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 benign
Transcript: ENSMUST00000057783
|
| SMART Domains |
Protein: ENSMUSP00000056125
Gene: ENSMUSG00000044067
| 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 |
probably benign
Transcript: ENSMUST00000176710
|
| SMART Domains |
Protein: ENSMUSP00000134839
Gene: ENSMUSG00000044067
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
C |
17: 43,020,940 (GRCm39) |
D628G |
probably benign |
Het |
| Aldh1l1 |
T |
A |
6: 90,568,823 (GRCm39) |
I708N |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,840,555 (GRCm39) |
F985I |
possibly damaging |
Het |
| Arap2 |
A |
G |
5: 62,798,685 (GRCm39) |
W1315R |
probably damaging |
Het |
| Arhgef33 |
C |
A |
17: 80,655,112 (GRCm39) |
Q106K |
probably damaging |
Het |
| Atad5 |
G |
A |
11: 79,986,343 (GRCm39) |
G477S |
probably benign |
Het |
| Chgb |
T |
A |
2: 132,635,411 (GRCm39) |
I451K |
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,754,252 (GRCm39) |
I98N |
probably damaging |
Het |
| Commd1 |
T |
C |
11: 22,849,981 (GRCm39) |
E234G |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,189,528 (GRCm39) |
|
probably null |
Het |
| Flrt2 |
T |
C |
12: 95,746,369 (GRCm39) |
S236P |
probably damaging |
Het |
| Garnl3 |
G |
A |
2: 32,887,701 (GRCm39) |
Q770* |
probably null |
Het |
| Hmcn1 |
A |
T |
1: 150,503,164 (GRCm39) |
D3880E |
probably benign |
Het |
| Lgals8 |
T |
C |
13: 12,471,219 (GRCm39) |
|
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,044,101 (GRCm39) |
V214A |
probably benign |
Het |
| Nat8l |
T |
C |
5: 34,155,809 (GRCm39) |
L155P |
probably damaging |
Het |
| Nckipsd |
A |
G |
9: 108,691,154 (GRCm39) |
S359G |
probably benign |
Het |
| Pex6 |
A |
C |
17: 47,034,650 (GRCm39) |
N785T |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,023,823 (GRCm39) |
C104S |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,000,437 (GRCm39) |
H842Q |
probably damaging |
Het |
| Rhno1 |
A |
T |
6: 128,335,021 (GRCm39) |
S101T |
probably damaging |
Het |
| Rnf103 |
T |
G |
6: 71,486,167 (GRCm39) |
V266G |
probably damaging |
Het |
| Slc25a39 |
T |
C |
11: 102,296,544 (GRCm39) |
D100G |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,463,313 (GRCm39) |
L3746P |
probably benign |
Het |
| Svep1 |
C |
T |
4: 58,084,872 (GRCm39) |
G1822E |
probably damaging |
Het |
| Tbl3 |
T |
A |
17: 24,921,291 (GRCm39) |
D500V |
probably damaging |
Het |
| Tmc5 |
T |
C |
7: 118,223,047 (GRCm39) |
|
probably benign |
Het |
| Usp20 |
C |
T |
2: 30,901,806 (GRCm39) |
R524W |
probably benign |
Het |
| Wnk2 |
G |
T |
13: 49,230,038 (GRCm39) |
P829T |
probably damaging |
Het |
| Zmiz1 |
A |
G |
14: 25,582,068 (GRCm39) |
N84S |
possibly damaging |
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 |
|
IGL01608:Gpr22
|
APN |
12 |
31,758,779 (GRCm39) |
nonsense |
probably null |
|
|
IGL02307:Gpr22
|
APN |
12 |
31,758,739 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02440:Gpr22
|
APN |
12 |
31,759,139 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
2013-12-09 |
Incidental Mutation