Incidental Mutation 'R6972:Gpr162'
| ID |
542294 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr162
|
| Ensembl Gene |
ENSMUSG00000038390 |
| Gene Name |
G protein-coupled receptor 162 |
| Synonyms |
Grca, A-2 |
| MMRRC Submission |
045082-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R6972 (G1)
|
| Quality Score |
180.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
124835407-124840900 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 124838272 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 126
(R126H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023958]
[ENSMUST00000024044]
[ENSMUST00000046893]
[ENSMUST00000135127]
[ENSMUST00000204667]
|
| AlphaFold |
Q3UN16 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023958
|
| SMART Domains |
Protein: ENSMUSP00000023958
Gene: ENSMUSG00000023191
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
277 |
N/A |
INTRINSIC |
|
P4Hc
|
460 |
670 |
8.51e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000024044
|
| SMART Domains |
Protein: ENSMUSP00000024044
Gene: ENSMUSG00000023274
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
21 |
N/A |
INTRINSIC |
|
IGv
|
37 |
114 |
7.02e-8 |
SMART |
|
IG
|
131 |
206 |
3.63e-1 |
SMART |
|
IG
|
212 |
317 |
3.36e0 |
SMART |
|
transmembrane domain
|
394 |
416 |
N/A |
INTRINSIC |
|
Pfam:Tcell_CD4_C
|
425 |
452 |
2.2e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046893
AA Change: R126H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390
AA Change: R126H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
30 |
337 |
1.1e-19 |
PFAM |
|
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
540 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000135127
|
| SMART Domains |
Protein: ENSMUSP00000116338
Gene: ENSMUSG00000023191
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
low complexity region
|
58 |
76 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
222 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
256 |
277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204667
AA Change: R126H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390
AA Change: R126H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
30 |
337 |
1.1e-19 |
PFAM |
|
low complexity region
|
348 |
362 |
N/A |
INTRINSIC |
|
low complexity region
|
462 |
477 |
N/A |
INTRINSIC |
|
low complexity region
|
482 |
504 |
N/A |
INTRINSIC |
|
low complexity region
|
513 |
540 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.8%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was identified upon genomic analysis of a gene-dense region at human chromosome 12p13. It appears to be mainly expressed in the brain; however, its function is not known. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
A |
G |
7: 79,003,775 (GRCm39) |
S285G |
probably benign |
Het |
| Afg1l |
T |
C |
10: 42,354,370 (GRCm39) |
T10A |
probably benign |
Het |
| Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
| B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
| Bdp1 |
T |
C |
13: 100,174,269 (GRCm39) |
E2089G |
probably null |
Het |
| Calcrl |
T |
G |
2: 84,198,922 (GRCm39) |
I156L |
probably benign |
Het |
| Cd69 |
T |
C |
6: 129,246,543 (GRCm39) |
S122G |
probably benign |
Het |
| Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
| Ckap5 |
T |
A |
2: 91,436,658 (GRCm39) |
I1586K |
probably damaging |
Het |
| Cyp4f14 |
C |
T |
17: 33,124,483 (GRCm39) |
A523T |
probably benign |
Het |
| Dcaf1 |
T |
A |
9: 106,723,971 (GRCm39) |
C466* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
| Eml5 |
T |
C |
12: 98,842,439 (GRCm39) |
I220V |
probably benign |
Het |
| Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
| Fuz |
T |
C |
7: 44,546,755 (GRCm39) |
|
probably benign |
Het |
| Git1 |
T |
G |
11: 77,390,347 (GRCm39) |
V64G |
probably damaging |
Het |
| Grm5 |
T |
C |
7: 87,252,131 (GRCm39) |
V127A |
probably benign |
Het |
| Iqsec1 |
T |
C |
6: 90,653,750 (GRCm39) |
D665G |
probably damaging |
Het |
| Kcnh1 |
A |
G |
1: 191,959,144 (GRCm39) |
I233V |
probably damaging |
Het |
| Lmcd1 |
C |
T |
6: 112,287,659 (GRCm39) |
T115I |
probably damaging |
Het |
| Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
| Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
| Nos3 |
A |
T |
5: 24,585,241 (GRCm39) |
I798L |
probably benign |
Het |
| Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or2ag16 |
A |
G |
7: 106,351,906 (GRCm39) |
S230P |
possibly damaging |
Het |
| Orc4 |
T |
C |
2: 48,817,196 (GRCm39) |
Q164R |
probably benign |
Het |
| Pcdhb14 |
T |
A |
18: 37,582,745 (GRCm39) |
V617E |
probably damaging |
Het |
| Pira1 |
C |
G |
7: 3,740,319 (GRCm39) |
A301P |
probably damaging |
Het |
| Plscr3 |
G |
A |
11: 69,738,784 (GRCm39) |
E149K |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,688,512 (GRCm39) |
|
probably null |
Het |
| Pramel11 |
A |
G |
4: 143,623,472 (GRCm39) |
L234P |
probably damaging |
Het |
| Prg2 |
G |
A |
2: 84,812,617 (GRCm39) |
R109H |
probably benign |
Het |
| Ptprj |
G |
A |
2: 90,410,747 (GRCm39) |
S62F |
possibly damaging |
Het |
| Resf1 |
T |
A |
6: 149,227,607 (GRCm39) |
Y218N |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,116,089 (GRCm39) |
S240T |
probably damaging |
Het |
| Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
| Taf4b |
T |
C |
18: 14,946,404 (GRCm39) |
V409A |
possibly damaging |
Het |
| Tafa2 |
A |
G |
10: 123,540,278 (GRCm39) |
T45A |
probably benign |
Het |
| Trim29 |
T |
A |
9: 43,238,409 (GRCm39) |
N504K |
probably benign |
Het |
| Vmn2r77 |
T |
C |
7: 86,452,202 (GRCm39) |
Y461H |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,887,330 (GRCm39) |
K531E |
probably damaging |
Het |
| Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly damaging |
Het |
|
| Other mutations in Gpr162 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01134:Gpr162
|
APN |
6 |
124,835,820 (GRCm39) |
splice site |
probably null |
|
|
IGL01879:Gpr162
|
APN |
6 |
124,838,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01901:Gpr162
|
APN |
6 |
124,838,370 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01930:Gpr162
|
APN |
6 |
124,838,575 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02334:Gpr162
|
APN |
6 |
124,838,123 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Gpr162
|
UTSW |
6 |
124,837,823 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1322:Gpr162
|
UTSW |
6 |
124,835,864 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1351:Gpr162
|
UTSW |
6 |
124,838,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1549:Gpr162
|
UTSW |
6 |
124,837,051 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1933:Gpr162
|
UTSW |
6 |
124,838,410 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4214:Gpr162
|
UTSW |
6 |
124,837,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4367:Gpr162
|
UTSW |
6 |
124,838,658 (GRCm39) |
start gained |
probably benign |
|
|
R4628:Gpr162
|
UTSW |
6 |
124,838,405 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5290:Gpr162
|
UTSW |
6 |
124,838,232 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5354:Gpr162
|
UTSW |
6 |
124,836,600 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5404:Gpr162
|
UTSW |
6 |
124,838,606 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5465:Gpr162
|
UTSW |
6 |
124,838,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5520:Gpr162
|
UTSW |
6 |
124,837,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5566:Gpr162
|
UTSW |
6 |
124,837,901 (GRCm39) |
nonsense |
probably null |
|
|
R6184:Gpr162
|
UTSW |
6 |
124,838,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6450:Gpr162
|
UTSW |
6 |
124,838,152 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R6685:Gpr162
|
UTSW |
6 |
124,838,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6807:Gpr162
|
UTSW |
6 |
124,838,164 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6982:Gpr162
|
UTSW |
6 |
124,837,919 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7543:Gpr162
|
UTSW |
6 |
124,838,355 (GRCm39) |
nonsense |
probably null |
|
|
R7650:Gpr162
|
UTSW |
6 |
124,838,806 (GRCm39) |
start gained |
probably benign |
|
|
R8974:Gpr162
|
UTSW |
6 |
124,837,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9096:Gpr162
|
UTSW |
6 |
124,836,570 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9097:Gpr162
|
UTSW |
6 |
124,836,570 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9233:Gpr162
|
UTSW |
6 |
124,836,014 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9356:Gpr162
|
UTSW |
6 |
124,838,297 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R9389:Gpr162
|
UTSW |
6 |
124,838,357 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCCACAGTGTCTGATAGAATG -3'
(R):5'- TATACTCATGGCGGCTGTGC -3'
Sequencing Primer
(F):5'- GTGTCTGATAGAATGTGATAGCCAC -3'
(R):5'- GGCTGTGCCCCTTACCAC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation