Incidental Mutation 'R5203:Gpr22'
| ID |
398272 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr22
|
| Ensembl Gene |
ENSMUSG00000044067 |
| Gene Name |
G protein-coupled receptor 22 |
| Synonyms |
2900068K05Rik |
| MMRRC Submission |
042778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5203 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
31756866-31763882 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31759787 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 112
(S112P)
|
| 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: S112P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056125
Gene: ENSMUSG00000044067
AA Change: S112P
| 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 damaging
Transcript: ENSMUST00000174480
AA Change: S75P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134674
Gene: ENSMUSG00000044067
AA Change: S75P
| 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 damaging
Transcript: ENSMUST00000176710
AA Change: S75P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134839
Gene: ENSMUSG00000044067
AA Change: S75P
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
T |
G |
16: 4,653,462 (GRCm39) |
S4A |
unknown |
Het |
| Adgrv1 |
A |
T |
13: 81,659,024 (GRCm39) |
N2053K |
possibly damaging |
Het |
| Akr1c13 |
C |
T |
13: 4,247,896 (GRCm39) |
R223* |
probably null |
Het |
| Arhgef11 |
A |
G |
3: 87,642,664 (GRCm39) |
Y1370C |
probably damaging |
Het |
| Arid1a |
T |
C |
4: 133,409,314 (GRCm39) |
E1731G |
unknown |
Het |
| Cyp2c54 |
A |
T |
19: 40,060,918 (GRCm39) |
V75E |
probably damaging |
Het |
| Fa2h |
A |
G |
8: 112,075,996 (GRCm39) |
M209T |
probably benign |
Het |
| Fam171a1 |
T |
C |
2: 3,224,582 (GRCm39) |
I311T |
probably damaging |
Het |
| Fat3 |
C |
A |
9: 16,289,438 (GRCm39) |
L28F |
possibly damaging |
Het |
| Fntb |
C |
A |
12: 76,884,346 (GRCm39) |
P22Q |
probably benign |
Het |
| Gmeb1 |
T |
C |
4: 131,959,320 (GRCm39) |
|
probably null |
Het |
| Htr7 |
A |
G |
19: 35,941,792 (GRCm39) |
S464P |
probably benign |
Het |
| Igkv4-80 |
A |
C |
6: 68,993,649 (GRCm39) |
S81A |
probably benign |
Het |
| Krt79 |
A |
G |
15: 101,838,175 (GRCm39) |
S527P |
unknown |
Het |
| Lnpep |
A |
T |
17: 17,757,325 (GRCm39) |
D858E |
probably damaging |
Het |
| Ly9 |
C |
A |
1: 171,427,347 (GRCm39) |
V403F |
probably damaging |
Het |
| Mindy4 |
A |
G |
6: 55,232,646 (GRCm39) |
Q363R |
probably benign |
Het |
| Mtmr10 |
G |
A |
7: 63,967,909 (GRCm39) |
V273I |
probably benign |
Het |
| Mup2 |
T |
A |
4: 60,139,728 (GRCm39) |
E20V |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,410,995 (GRCm39) |
N151S |
probably damaging |
Het |
| Nod2 |
A |
C |
8: 89,391,079 (GRCm39) |
D462A |
probably damaging |
Het |
| Nt5c2 |
A |
G |
19: 46,878,247 (GRCm39) |
Y497H |
probably damaging |
Het |
| Or12d2 |
A |
T |
17: 37,625,092 (GRCm39) |
L61Q |
probably damaging |
Het |
| Or4k44 |
A |
C |
2: 111,367,981 (GRCm39) |
Y218D |
probably damaging |
Het |
| Otx1 |
C |
A |
11: 21,947,037 (GRCm39) |
A91S |
probably damaging |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,243 (GRCm39) |
D352V |
probably damaging |
Het |
| Psap |
A |
G |
10: 60,130,755 (GRCm39) |
D195G |
probably damaging |
Het |
| Scyl1 |
G |
A |
19: 5,821,395 (GRCm39) |
|
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,025,720 (GRCm39) |
|
probably benign |
Het |
| Slc2a12 |
G |
T |
10: 22,521,213 (GRCm39) |
|
probably null |
Het |
| Slc2a12 |
G |
C |
10: 22,568,117 (GRCm39) |
V515L |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,209,061 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ttc27 |
A |
G |
17: 75,084,649 (GRCm39) |
D419G |
probably damaging |
Het |
| Ubxn8 |
T |
C |
8: 34,123,639 (GRCm39) |
E100G |
probably damaging |
Het |
| Zpbp |
T |
C |
11: 11,358,451 (GRCm39) |
E272G |
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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGTTGATTGCTGTCGAAACAC -3'
(R):5'- CCAACTGCTCCAAAAGAATGTG -3'
Sequencing Primer
(F):5'- TTGCTGTCGAAACACTTGCAAAGG -3'
(R):5'- GTCTGAATCAAACGTCACGGTGC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation