Incidental Mutation 'R6844:Gpr22'
| ID |
534680 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr22
|
| Ensembl Gene |
ENSMUSG00000044067 |
| Gene Name |
G protein-coupled receptor 22 |
| Synonyms |
2900068K05Rik |
| MMRRC Submission |
044950-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6844 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
31756866-31763882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31759951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 20
(R20L)
|
| 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
AA Change: R57L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056125
Gene: ENSMUSG00000044067
AA Change: R57L
| 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
AA Change: R20L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134674
Gene: ENSMUSG00000044067
AA Change: R20L
| 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
AA Change: R20L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134839
Gene: ENSMUSG00000044067
AA Change: R20L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
27 |
N/A |
INTRINSIC |
|
Pfam:7tm_1
|
58 |
366 |
1.4e-26 |
PFAM |
|
| Meta Mutation Damage Score |
0.0592 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
92% (36/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap18 |
G |
A |
10: 26,648,682 (GRCm39) |
A35T |
probably benign |
Het |
| Arhgap21 |
A |
G |
2: 20,886,116 (GRCm39) |
S354P |
probably benign |
Het |
| Casq2 |
A |
T |
3: 102,017,578 (GRCm39) |
H86L |
possibly damaging |
Het |
| Ccdc188 |
G |
A |
16: 18,036,074 (GRCm39) |
G83E |
probably damaging |
Het |
| Cd22 |
G |
T |
7: 30,572,856 (GRCm39) |
|
probably null |
Het |
| Cyp2b13 |
T |
A |
7: 25,781,122 (GRCm39) |
I178N |
probably damaging |
Het |
| Cyp4a31 |
T |
A |
4: 115,420,989 (GRCm39) |
C26S |
probably null |
Het |
| Eif3h |
T |
C |
15: 51,728,729 (GRCm39) |
D42G |
possibly damaging |
Het |
| Elovl4 |
T |
A |
9: 83,672,164 (GRCm39) |
I52L |
probably benign |
Het |
| Fgfbp3 |
C |
A |
19: 36,896,280 (GRCm39) |
A113S |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,813,969 (GRCm39) |
K3429N |
possibly damaging |
Het |
| Gemin5 |
T |
C |
11: 58,054,730 (GRCm39) |
D224G |
probably benign |
Het |
| Gm3415 |
T |
C |
5: 146,494,811 (GRCm39) |
I158T |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,581,455 (GRCm39) |
K232E |
possibly damaging |
Het |
| Itgax |
T |
A |
7: 127,747,106 (GRCm39) |
|
probably null |
Het |
| Jag2 |
T |
C |
12: 112,880,334 (GRCm39) |
Y310C |
probably damaging |
Het |
| Lce1j |
A |
G |
3: 92,696,656 (GRCm39) |
S41P |
unknown |
Het |
| Mllt10 |
A |
G |
2: 18,164,294 (GRCm39) |
I197V |
probably benign |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
T |
A |
10: 88,372,243 (GRCm39) |
I796F |
possibly damaging |
Het |
| Nr2c1 |
T |
A |
10: 94,007,029 (GRCm39) |
L289* |
probably null |
Het |
| Omp |
T |
A |
7: 97,794,283 (GRCm39) |
M115L |
probably benign |
Het |
| Pdcd1 |
C |
T |
1: 93,967,106 (GRCm39) |
R264H |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,476,136 (GRCm39) |
F1119L |
probably benign |
Het |
| Ralyl |
A |
G |
3: 13,841,938 (GRCm39) |
T25A |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,064,970 (GRCm39) |
T656A |
probably damaging |
Het |
| Ripor3 |
C |
T |
2: 167,835,253 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,205 (GRCm39) |
S54P |
probably damaging |
Het |
| Serpinb9g |
A |
T |
13: 33,670,616 (GRCm39) |
I35F |
probably damaging |
Het |
| Shisa8 |
T |
C |
15: 82,096,310 (GRCm39) |
S102G |
probably damaging |
Het |
| Slc4a1ap |
T |
A |
5: 31,684,822 (GRCm39) |
S153T |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,376,831 (GRCm39) |
D1028E |
probably damaging |
Het |
| Slc6a13 |
T |
A |
6: 121,302,012 (GRCm39) |
I198N |
probably damaging |
Het |
| Sst |
C |
T |
16: 23,708,592 (GRCm39) |
D80N |
probably benign |
Het |
| Synj2 |
A |
G |
17: 6,026,081 (GRCm39) |
K47E |
probably damaging |
Het |
| Tal1 |
C |
T |
4: 114,920,464 (GRCm39) |
P46L |
probably benign |
Het |
| Top2b |
A |
T |
14: 16,429,383 (GRCm38) |
N1541I |
possibly damaging |
Het |
| Vps13b |
T |
A |
15: 35,877,736 (GRCm39) |
N2903K |
probably benign |
Het |
| Zfp949 |
A |
G |
9: 88,451,464 (GRCm39) |
T345A |
possibly damaging |
Het |
| Zmat3 |
A |
G |
3: 32,395,644 (GRCm39) |
Y288H |
probably 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 |
|
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACATCAAGTACATGGAGGTTCATTG -3'
(R):5'- AGGTAGCCCTGATGTTTCCC -3'
Sequencing Primer
(F):5'- GTAAAGTACCAGGACGGT -3'
(R):5'- AGGTAGCCCTGATGTTTCCCAATTC -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation