Incidental Mutation 'R1322:Gpr162'
| ID |
157711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr162
|
| Ensembl Gene |
ENSMUSG00000038390 |
| Gene Name |
G protein-coupled receptor 162 |
| Synonyms |
Grca, A-2 |
| MMRRC Submission |
039388-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R1322 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
124835407-124840900 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 124835864 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 512
(T512K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145267
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023958]
[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 damaging
Transcript: ENSMUST00000046893
AA Change: T512K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038536
Gene: ENSMUSG00000038390
AA Change: T512K
| 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 |
noncoding transcript
Transcript: ENSMUST00000129225
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000135546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149870
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000204161
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000204667
AA Change: T512K
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000145267
Gene: ENSMUSG00000038390
AA Change: T512K
| 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 |
noncoding transcript
Transcript: ENSMUST00000204253
|
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.5%
|
| Validation Efficiency |
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aco2 |
C |
T |
15: 81,779,394 (GRCm39) |
S33L |
probably damaging |
Het |
| Col27a1 |
A |
C |
4: 63,246,803 (GRCm39) |
|
probably benign |
Het |
| Fam184a |
G |
T |
10: 53,528,415 (GRCm39) |
D815E |
probably damaging |
Het |
| Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
| Hipk1 |
A |
T |
3: 103,651,297 (GRCm39) |
S1155R |
probably damaging |
Het |
| Itih2 |
A |
G |
2: 10,114,333 (GRCm39) |
V417A |
probably damaging |
Het |
| Kmt2a |
A |
G |
9: 44,732,418 (GRCm39) |
|
probably benign |
Het |
| Mecom |
G |
T |
3: 30,011,522 (GRCm39) |
P670Q |
probably damaging |
Het |
| Mgat4d |
A |
G |
8: 84,092,354 (GRCm39) |
T247A |
possibly damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,786,817 (GRCm39) |
F65L |
possibly damaging |
Het |
| Polr1c |
T |
C |
17: 46,555,089 (GRCm39) |
K327R |
possibly damaging |
Het |
| Prpf39 |
A |
T |
12: 65,089,436 (GRCm39) |
N58I |
possibly damaging |
Het |
| Sh3bp2 |
T |
A |
5: 34,712,837 (GRCm39) |
N92K |
probably damaging |
Het |
| Sppl3 |
TGG |
TG |
5: 115,226,352 (GRCm39) |
|
probably null |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Trgc3 |
T |
C |
13: 19,445,364 (GRCm39) |
F104S |
probably benign |
Het |
| Vmn2r88 |
T |
G |
14: 51,651,565 (GRCm39) |
I293S |
probably damaging |
Het |
| Zfp251 |
C |
T |
15: 76,738,436 (GRCm39) |
R219Q |
possibly damaging |
Het |
| Zfp930 |
A |
G |
8: 69,680,820 (GRCm39) |
T171A |
probably benign |
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 |
|
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 |
|
R6972:Gpr162
|
UTSW |
6 |
124,838,272 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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'- AACAGCGTCTTCCTGCACTTAACC -3'
(R):5'- CGACGATTATCCCACGATGAGACC -3'
Sequencing Primer
(F):5'- TTCCTGCACTTAACCCCAAAGG -3'
(R):5'- TGCACAAGTGGTCCTCATCG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation