Incidental Mutation 'R6773:Gpr153'
| ID |
532234 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpr153
|
| Ensembl Gene |
ENSMUSG00000042804 |
| Gene Name |
G protein-coupled receptor 153 |
| Synonyms |
PGR1, 1110065N12Rik |
| MMRRC Submission |
044889-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6773 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
152358689-152369794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 152363757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 59
(V59E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055754]
[ENSMUST00000105650]
[ENSMUST00000105651]
|
| AlphaFold |
Q8K0Z9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000055754
AA Change: V59E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804
AA Change: V59E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
298 |
1.2e-14 |
PFAM |
|
low complexity region
|
501 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
617 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105650
AA Change: V59E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804
AA Change: V59E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
297 |
5.4e-18 |
PFAM |
|
low complexity region
|
478 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
594 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105651
AA Change: V59E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804
AA Change: V59E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7tm_1
|
24 |
297 |
5.3e-17 |
PFAM |
|
low complexity region
|
501 |
518 |
N/A |
INTRINSIC |
|
low complexity region
|
605 |
617 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.4974 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 96.8%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an integral membrane protein that belongs to the Class A rhodopsin superfamily of G protein coupled receptors. The encoded protein is expressed primarily in the central nervous system. A knockdown of the orthologous gene in rat is associated with a significant reduction in food intake and impaired decision making ability. Mutations in this gene are associated with schizophrenia, autism, and other neuropsychiatric disorders. The expression of this gene is activated by the glioma-associated oncogene homolog 1 transcription factor which, in turn, is activated by sonic hedgehog in normal and tumorigenic cells. [provided by RefSeq, Feb 2017]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adrm1b |
T |
A |
3: 92,336,556 (GRCm39) |
I49F |
probably damaging |
Het |
| Aqp6 |
A |
G |
15: 99,500,558 (GRCm39) |
D161G |
probably damaging |
Het |
| Aqr |
A |
T |
2: 113,979,477 (GRCm39) |
N319K |
possibly damaging |
Het |
| Asns |
C |
A |
6: 7,676,284 (GRCm39) |
R424L |
probably benign |
Het |
| Atp4a |
T |
C |
7: 30,414,802 (GRCm39) |
V197A |
probably damaging |
Het |
| Ccdc70 |
A |
G |
8: 22,463,321 (GRCm39) |
E37G |
probably damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,826,409 (GRCm39) |
V1102E |
possibly damaging |
Het |
| Cd82 |
G |
A |
2: 93,252,221 (GRCm39) |
A130V |
probably benign |
Het |
| Cfap46 |
T |
C |
7: 139,222,477 (GRCm39) |
|
probably benign |
Het |
| Cnot6l |
A |
C |
5: 96,242,158 (GRCm39) |
C188W |
probably damaging |
Het |
| Cxcr6 |
A |
T |
9: 123,639,355 (GRCm39) |
T119S |
possibly damaging |
Het |
| Dok7 |
G |
A |
5: 35,234,528 (GRCm39) |
R193H |
probably damaging |
Het |
| Dpy19l1 |
A |
T |
9: 24,352,068 (GRCm39) |
S386T |
probably damaging |
Het |
| Frem3 |
A |
C |
8: 81,338,444 (GRCm39) |
T246P |
probably damaging |
Het |
| Gm29666 |
A |
T |
15: 84,798,360 (GRCm39) |
I67K |
unknown |
Het |
| Inpp4b |
G |
A |
8: 82,583,249 (GRCm39) |
|
probably benign |
Het |
| Kcnj13 |
T |
C |
1: 87,314,482 (GRCm39) |
I247V |
possibly damaging |
Het |
| Klri1 |
C |
T |
6: 129,680,510 (GRCm39) |
V91M |
possibly damaging |
Het |
| M1ap |
T |
A |
6: 82,945,061 (GRCm39) |
D118E |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,863,993 (GRCm39) |
V406A |
probably benign |
Het |
| Nedd4l |
T |
C |
18: 65,300,622 (GRCm39) |
V369A |
probably benign |
Het |
| Or5ac24 |
A |
T |
16: 59,165,579 (GRCm39) |
L162I |
probably damaging |
Het |
| Otud4 |
A |
G |
8: 80,370,435 (GRCm39) |
Y71C |
possibly damaging |
Het |
| Plcl1 |
A |
G |
1: 55,790,461 (GRCm39) |
N1044D |
probably benign |
Het |
| Ppp4r3b |
T |
A |
11: 29,155,639 (GRCm39) |
M114K |
probably benign |
Het |
| Prune1 |
T |
C |
3: 95,171,082 (GRCm39) |
D114G |
probably damaging |
Het |
| Rad54l2 |
A |
T |
9: 106,570,516 (GRCm39) |
V1268D |
probably benign |
Het |
| Rbbp6 |
A |
G |
7: 122,598,578 (GRCm39) |
|
probably benign |
Het |
| Rimbp3 |
A |
T |
16: 17,026,879 (GRCm39) |
E101V |
probably damaging |
Het |
| Rit1 |
C |
T |
3: 88,633,676 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
GCG |
GCGACGGCGACG |
7: 97,229,114 (GRCm39) |
|
probably benign |
Homo |
| Shisa9 |
A |
G |
16: 11,802,892 (GRCm39) |
T150A |
probably damaging |
Het |
| Smpdl3a |
T |
C |
10: 57,678,533 (GRCm39) |
V112A |
probably damaging |
Het |
| Strada |
T |
A |
11: 106,055,733 (GRCm39) |
I305F |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,049,146 (GRCm39) |
E3454K |
possibly damaging |
Het |
| Tfap2a |
T |
A |
13: 40,882,230 (GRCm39) |
N25I |
probably damaging |
Het |
| Tmem259 |
T |
C |
10: 79,813,422 (GRCm39) |
D519G |
possibly damaging |
Het |
| Tns1 |
T |
C |
1: 73,958,866 (GRCm39) |
Q445R |
probably damaging |
Het |
| Topbp1 |
A |
G |
9: 103,220,891 (GRCm39) |
D20G |
possibly damaging |
Het |
| Trbv5 |
G |
T |
6: 41,039,551 (GRCm39) |
W52L |
probably damaging |
Het |
| Trpc6 |
A |
T |
9: 8,634,058 (GRCm39) |
H379L |
probably damaging |
Het |
| Tulp1 |
T |
C |
17: 28,581,876 (GRCm39) |
K193E |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,690,702 (GRCm39) |
V2459A |
probably benign |
Het |
| Vps50 |
T |
C |
6: 3,592,560 (GRCm39) |
V731A |
probably benign |
Het |
|
| Other mutations in Gpr153 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01350:Gpr153
|
APN |
4 |
152,366,423 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01368:Gpr153
|
APN |
4 |
152,367,451 (GRCm39) |
missense |
probably benign |
0.40 |
|
IGL01568:Gpr153
|
APN |
4 |
152,366,825 (GRCm39) |
splice site |
probably null |
|
|
IGL01672:Gpr153
|
APN |
4 |
152,364,370 (GRCm39) |
nonsense |
probably null |
|
|
R0735:Gpr153
|
UTSW |
4 |
152,363,830 (GRCm39) |
nonsense |
probably null |
|
|
R0925:Gpr153
|
UTSW |
4 |
152,366,331 (GRCm39) |
missense |
probably benign |
|
|
R1302:Gpr153
|
UTSW |
4 |
152,364,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1829:Gpr153
|
UTSW |
4 |
152,366,849 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2041:Gpr153
|
UTSW |
4 |
152,367,810 (GRCm39) |
missense |
probably benign |
|
|
R4698:Gpr153
|
UTSW |
4 |
152,366,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5069:Gpr153
|
UTSW |
4 |
152,364,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5623:Gpr153
|
UTSW |
4 |
152,366,398 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5800:Gpr153
|
UTSW |
4 |
152,364,534 (GRCm39) |
nonsense |
probably null |
|
|
R5940:Gpr153
|
UTSW |
4 |
152,367,832 (GRCm39) |
missense |
probably benign |
0.12 |
|
R6944:Gpr153
|
UTSW |
4 |
152,363,820 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Gpr153
|
UTSW |
4 |
152,366,858 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8170:Gpr153
|
UTSW |
4 |
152,364,634 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8699:Gpr153
|
UTSW |
4 |
152,363,558 (GRCm39) |
start gained |
probably benign |
|
|
R8701:Gpr153
|
UTSW |
4 |
152,363,558 (GRCm39) |
start gained |
probably benign |
|
|
R8732:Gpr153
|
UTSW |
4 |
152,363,558 (GRCm39) |
start gained |
probably benign |
|
|
R9047:Gpr153
|
UTSW |
4 |
152,364,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9383:Gpr153
|
UTSW |
4 |
152,367,516 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATCTGGTGCCACTGTCAGAG -3'
(R):5'- TAGTTGACTGGCCATCGGAC -3'
Sequencing Primer
(F):5'- TGTCAGAGTCCTCACCAAGTG -3'
(R):5'- ATCGGACCATCCACATGCGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation