Incidental Mutation 'IGL01517:Gpr22'
ID |
278568 |
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 # |
IGL01517
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
31756866-31763882 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
C to T
at 31758709 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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
A |
T |
13: 104,526,700 (GRCm39) |
|
probably benign |
Het |
Arpc1b |
A |
G |
5: 145,064,679 (GRCm39) |
|
probably benign |
Het |
Ccdc54 |
G |
A |
16: 50,410,280 (GRCm39) |
L329F |
possibly damaging |
Het |
Cdc42bpg |
G |
A |
19: 6,368,467 (GRCm39) |
R1055H |
probably damaging |
Het |
Cylc1 |
A |
G |
X: 110,162,799 (GRCm39) |
T29A |
possibly damaging |
Het |
Ddx50 |
T |
C |
10: 62,482,911 (GRCm39) |
T53A |
probably benign |
Het |
Dmap1 |
G |
A |
4: 117,533,206 (GRCm39) |
R283C |
probably damaging |
Het |
Extl3 |
A |
T |
14: 65,314,156 (GRCm39) |
L342H |
probably damaging |
Het |
Gjb3 |
A |
C |
4: 127,219,914 (GRCm39) |
I206S |
probably damaging |
Het |
Gphn |
T |
A |
12: 78,423,148 (GRCm39) |
I53K |
probably damaging |
Het |
Inpp5b |
T |
A |
4: 124,676,229 (GRCm39) |
C362S |
probably benign |
Het |
Iqgap3 |
C |
A |
3: 88,016,703 (GRCm39) |
Q1062K |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,412,089 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
A |
G |
19: 5,807,760 (GRCm39) |
D1167G |
possibly damaging |
Het |
Mpo |
A |
G |
11: 87,686,647 (GRCm39) |
N65D |
possibly damaging |
Het |
Mrpl2 |
A |
G |
17: 46,960,909 (GRCm39) |
R268G |
probably damaging |
Het |
Nfkbia |
C |
T |
12: 55,537,430 (GRCm39) |
A220T |
probably damaging |
Het |
Nlrc3 |
T |
A |
16: 3,765,351 (GRCm39) |
I1091F |
probably damaging |
Het |
Notch2 |
T |
A |
3: 98,045,971 (GRCm39) |
S1674R |
probably benign |
Het |
Or10h28 |
T |
A |
17: 33,488,629 (GRCm39) |
N310K |
probably benign |
Het |
Or14a257 |
T |
C |
7: 86,138,765 (GRCm39) |
|
probably benign |
Het |
Pde8b |
A |
G |
13: 95,237,395 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,334,597 (GRCm39) |
Y392H |
probably damaging |
Het |
Plekhm1 |
A |
T |
11: 103,285,609 (GRCm39) |
N275K |
possibly damaging |
Het |
Prdm16 |
T |
C |
4: 154,412,882 (GRCm39) |
H1041R |
probably damaging |
Het |
Rapsn |
C |
A |
2: 90,866,963 (GRCm39) |
N88K |
probably damaging |
Het |
Rasef |
T |
A |
4: 73,688,059 (GRCm39) |
Q31H |
probably benign |
Het |
Rpl28-ps4 |
T |
C |
6: 117,190,813 (GRCm39) |
|
noncoding transcript |
Het |
Trpc7 |
T |
C |
13: 57,008,878 (GRCm39) |
Y263C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,577,940 (GRCm39) |
T24318A |
probably damaging |
Het |
Vmn1r35 |
T |
C |
6: 66,656,434 (GRCm39) |
T79A |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,742,225 (GRCm39) |
S200T |
probably benign |
Het |
Wnt9b |
A |
G |
11: 103,621,907 (GRCm39) |
V250A |
probably benign |
Het |
Zyg11a |
T |
A |
4: 108,058,391 (GRCm39) |
K383M |
probably null |
Het |
|
Other mutations in Gpr22 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
2015-04-16 |