Incidental Mutation 'IGL01368:Gpr153'
| ID |
76029 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr153
|
| Ensembl Gene |
ENSMUSG00000042804 |
| Gene Name |
G protein-coupled receptor 153 |
| Synonyms |
PGR1, 1110065N12Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01368
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
152358689-152369794 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 152367451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 434
(F434S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101276
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055754]
[ENSMUST00000094438]
[ENSMUST00000105650]
[ENSMUST00000105651]
[ENSMUST00000218045]
|
| AlphaFold |
Q8K0Z9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055754
AA Change: F434S
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052742
Gene: ENSMUSG00000042804
AA Change: F434S
| 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 benign
Transcript: ENSMUST00000094438
|
| SMART Domains |
Protein: ENSMUSP00000092006
Gene: ENSMUSG00000028946
| Domain | Start | End | E-Value | Type |
|---|
|
HLH
|
1 |
55 |
3.83e-11 |
SMART |
|
low complexity region
|
129 |
148 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105650
AA Change: F411S
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000101275
Gene: ENSMUSG00000042804
AA Change: F411S
| 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 benign
Transcript: ENSMUST00000105651
AA Change: F434S
PolyPhen 2
Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000101276
Gene: ENSMUSG00000042804
AA Change: F434S
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144035
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218045
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acod1 |
T |
A |
14: 103,288,770 (GRCm39) |
D93E |
probably damaging |
Het |
| Adam22 |
T |
C |
5: 8,177,411 (GRCm39) |
Y566C |
probably damaging |
Het |
| Atp8b3 |
G |
A |
10: 80,370,063 (GRCm39) |
|
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,851,050 (GRCm39) |
D104E |
probably damaging |
Het |
| Bcl2a1a |
T |
A |
9: 88,839,500 (GRCm39) |
W133R |
probably damaging |
Het |
| Ckm |
C |
T |
7: 19,150,712 (GRCm39) |
Q184* |
probably null |
Het |
| Clk4 |
T |
A |
11: 51,171,999 (GRCm39) |
Y246* |
probably null |
Het |
| Cyp3a57 |
T |
C |
5: 145,305,878 (GRCm39) |
S121P |
probably damaging |
Het |
| Eif1ad15 |
C |
T |
12: 88,287,858 (GRCm39) |
D132N |
unknown |
Het |
| Gm8011 |
T |
C |
14: 42,287,831 (GRCm39) |
|
probably benign |
Het |
| Gpr158 |
G |
T |
2: 21,831,909 (GRCm39) |
W1003L |
probably damaging |
Het |
| Ighv5-9-1 |
T |
C |
12: 113,700,010 (GRCm39) |
E34G |
probably damaging |
Het |
| Igkv16-104 |
G |
T |
6: 68,402,594 (GRCm39) |
R2S |
possibly damaging |
Het |
| Map3k3 |
T |
C |
11: 106,041,215 (GRCm39) |
F395L |
probably benign |
Het |
| Myof |
T |
A |
19: 37,924,905 (GRCm39) |
T1161S |
probably damaging |
Het |
| Nlrp9a |
T |
C |
7: 26,257,299 (GRCm39) |
S217P |
probably damaging |
Het |
| Nol9 |
T |
A |
4: 152,142,848 (GRCm39) |
N687K |
probably benign |
Het |
| Or10ad1 |
T |
C |
15: 98,105,381 (GRCm39) |
I295V |
probably damaging |
Het |
| Or11h23 |
T |
C |
14: 50,948,450 (GRCm39) |
V221A |
possibly damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,829 (GRCm39) |
E104G |
probably benign |
Het |
| Or8g33 |
A |
T |
9: 39,337,476 (GRCm39) |
V297D |
probably damaging |
Het |
| Prss1l |
A |
G |
6: 41,373,620 (GRCm39) |
D161G |
possibly damaging |
Het |
| Rrh |
T |
C |
3: 129,602,618 (GRCm39) |
D229G |
probably benign |
Het |
| Sclt1 |
T |
C |
3: 41,665,610 (GRCm39) |
T153A |
probably damaging |
Het |
| Slc41a1 |
G |
A |
1: 131,766,862 (GRCm39) |
V127I |
probably damaging |
Het |
| Smarca2 |
C |
T |
19: 26,751,694 (GRCm39) |
S214L |
possibly damaging |
Het |
| Tmem63a |
T |
C |
1: 180,797,797 (GRCm39) |
V616A |
possibly damaging |
Het |
| Ubr1 |
A |
G |
2: 120,771,612 (GRCm39) |
|
probably benign |
Het |
| Vmn1r228 |
A |
G |
17: 20,996,774 (GRCm39) |
L248P |
probably benign |
Het |
| Zdhhc16 |
T |
A |
19: 41,929,945 (GRCm39) |
|
probably null |
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 |
|
|
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 |
|
R6773:Gpr153
|
UTSW |
4 |
152,363,757 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation