Incidental Mutation 'IGL01861:Gpr63'
| ID |
178319 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpr63
|
| Ensembl Gene |
ENSMUSG00000040372 |
| Gene Name |
G protein-coupled receptor 63 |
| Synonyms |
PSP24beta |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
24966407-25009233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 25008545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 423
(T423M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038920]
|
| AlphaFold |
Q9EQQ3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000038920
AA Change: T423M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000039312
Gene: ENSMUSG00000040372
AA Change: T423M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:7TM_GPCR_Srsx
|
98 |
392 |
1.3e-8 |
PFAM |
|
Pfam:7tm_1
|
104 |
377 |
1.9e-49 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124792
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151006
|
| 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 a G protein-coupled receptor. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Dec 2011]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc5 |
T |
C |
17: 56,607,144 (GRCm39) |
T34A |
possibly damaging |
Het |
| Atm |
C |
A |
9: 53,405,912 (GRCm39) |
R1252L |
probably null |
Het |
| Cd34 |
T |
C |
1: 194,640,888 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,256 (GRCm39) |
V2944A |
probably damaging |
Het |
| Cntnap3 |
C |
T |
13: 64,946,922 (GRCm39) |
G169D |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,679,508 (GRCm39) |
T326S |
probably benign |
Het |
| Dnah7a |
C |
T |
1: 53,623,608 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
A |
G |
5: 3,614,242 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,057,808 (GRCm39) |
S906P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,910 (GRCm39) |
Y1099C |
probably damaging |
Het |
| Hpx |
A |
T |
7: 105,241,393 (GRCm39) |
Y339* |
probably null |
Het |
| Lingo2 |
A |
T |
4: 35,709,526 (GRCm39) |
D151E |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,565 (GRCm39) |
Q215L |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,317,185 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
A |
G |
19: 4,058,803 (GRCm39) |
V235A |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,055,046 (GRCm39) |
I205T |
probably damaging |
Het |
| Pafah1b1 |
A |
T |
11: 74,581,403 (GRCm39) |
N22K |
possibly damaging |
Het |
| Prune1 |
G |
T |
3: 95,172,868 (GRCm39) |
R66S |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,095,587 (GRCm39) |
I291N |
possibly damaging |
Het |
| Ptprk |
A |
G |
10: 28,259,441 (GRCm39) |
I294V |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,597,675 (GRCm39) |
V471M |
probably damaging |
Het |
| Rnase6 |
C |
A |
14: 51,367,748 (GRCm39) |
Q47K |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,417,021 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,124,457 (GRCm39) |
|
probably benign |
Het |
| Stap1 |
A |
G |
5: 86,244,383 (GRCm39) |
I217V |
possibly damaging |
Het |
| Taf1d |
T |
C |
9: 15,220,035 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,284,658 (GRCm39) |
H809R |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,060,717 (GRCm39) |
N49S |
probably damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,374 (GRCm39) |
|
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,063,804 (GRCm39) |
Y589C |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,973,742 (GRCm39) |
T4S |
possibly damaging |
Het |
| Zfp687 |
A |
T |
3: 94,919,171 (GRCm39) |
F200L |
probably damaging |
Het |
|
| Other mutations in Gpr63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01576:Gpr63
|
APN |
4 |
25,008,445 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
IGL01673:Gpr63
|
APN |
4 |
25,008,014 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02082:Gpr63
|
APN |
4 |
25,008,564 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0003:Gpr63
|
UTSW |
4 |
25,007,651 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0554:Gpr63
|
UTSW |
4 |
25,007,447 (GRCm39) |
missense |
probably benign |
|
|
R0729:Gpr63
|
UTSW |
4 |
25,007,480 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1506:Gpr63
|
UTSW |
4 |
25,008,227 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3103:Gpr63
|
UTSW |
4 |
25,007,353 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3694:Gpr63
|
UTSW |
4 |
25,007,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4021:Gpr63
|
UTSW |
4 |
25,008,470 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R4807:Gpr63
|
UTSW |
4 |
25,007,446 (GRCm39) |
missense |
probably benign |
|
|
R4967:Gpr63
|
UTSW |
4 |
25,008,368 (GRCm39) |
nonsense |
probably null |
|
|
R5047:Gpr63
|
UTSW |
4 |
25,008,202 (GRCm39) |
missense |
probably benign |
0.44 |
|
R5325:Gpr63
|
UTSW |
4 |
25,007,294 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5382:Gpr63
|
UTSW |
4 |
25,007,952 (GRCm39) |
missense |
probably benign |
|
|
R7047:Gpr63
|
UTSW |
4 |
25,007,320 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7216:Gpr63
|
UTSW |
4 |
25,008,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8317:Gpr63
|
UTSW |
4 |
25,008,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8387:Gpr63
|
UTSW |
4 |
25,008,301 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R8989:Gpr63
|
UTSW |
4 |
25,007,357 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9324:Gpr63
|
UTSW |
4 |
25,008,432 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
| Posted On |
2014-05-07 |
Incidental Mutation