Incidental Mutation 'IGL01673:Gpr63'
| ID |
103559 |
| 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 # |
IGL01673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
24966407-25009233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 25008014 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 246
(Q246L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038920]
|
| AlphaFold |
Q9EQQ3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000038920
AA Change: Q246L
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000039312
Gene: ENSMUSG00000040372
AA Change: Q246L
| 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: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cpz |
A |
T |
5: 35,669,891 (GRCm39) |
V262E |
probably benign |
Het |
| Cyp4f14 |
A |
G |
17: 33,130,125 (GRCm39) |
|
probably null |
Het |
| Ddx46 |
G |
T |
13: 55,800,861 (GRCm39) |
V339F |
probably damaging |
Het |
| Gpn1 |
T |
G |
5: 31,652,179 (GRCm39) |
C21W |
probably damaging |
Het |
| Hsp90b1 |
T |
A |
10: 86,529,296 (GRCm39) |
M658L |
probably damaging |
Het |
| Immp2l |
T |
C |
12: 41,118,320 (GRCm39) |
S4P |
probably benign |
Het |
| Krtap9-5 |
A |
T |
11: 99,840,377 (GRCm39) |
*359C |
probably null |
Het |
| Lgals7 |
A |
G |
7: 28,565,621 (GRCm39) |
|
probably benign |
Het |
| Mak |
G |
T |
13: 41,201,699 (GRCm39) |
|
probably null |
Het |
| Mrps18c |
A |
G |
5: 100,946,672 (GRCm39) |
R13G |
possibly damaging |
Het |
| Myo7a |
A |
G |
7: 97,703,915 (GRCm39) |
V1946A |
probably benign |
Het |
| Nfyc |
T |
C |
4: 120,636,307 (GRCm39) |
|
probably benign |
Het |
| Nkx2-4 |
C |
T |
2: 146,925,834 (GRCm39) |
V343M |
possibly damaging |
Het |
| Or5be3 |
T |
C |
2: 86,863,731 (GRCm39) |
Y278C |
probably damaging |
Het |
| Or8d2 |
T |
C |
9: 38,760,316 (GRCm39) |
V302A |
probably benign |
Het |
| Rapgef4 |
G |
T |
2: 72,071,781 (GRCm39) |
S743I |
probably damaging |
Het |
| Tcf7 |
A |
G |
11: 52,147,823 (GRCm39) |
C210R |
probably damaging |
Het |
| Ubqln3 |
T |
A |
7: 103,791,605 (GRCm39) |
I162F |
probably benign |
Het |
| Vmn1r216 |
A |
G |
13: 23,283,641 (GRCm39) |
Q108R |
probably damaging |
Het |
| Vmn1r74 |
A |
T |
7: 11,581,317 (GRCm39) |
I206F |
possibly damaging |
Het |
| Wdr64 |
T |
C |
1: 175,627,922 (GRCm39) |
I872T |
possibly 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 |
|
IGL01861:Gpr63
|
APN |
4 |
25,008,545 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2014-01-21 |
Incidental Mutation