Incidental Mutation 'IGL01576:Gpr63'
| ID |
91244 |
| 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 # |
IGL01576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
24966407-25009233 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 25008445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 390
(D390Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039312
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000038920]
|
| AlphaFold |
Q9EQQ3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000038920
AA Change: D390Y
PolyPhen 2
Score 0.778 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000039312
Gene: ENSMUSG00000040372
AA Change: D390Y
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,531,293 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,816,121 (GRCm39) |
E541G |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,962 (GRCm39) |
D571V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,984,365 (GRCm39) |
N4459S |
possibly damaging |
Het |
| Brsk2 |
T |
C |
7: 141,535,292 (GRCm39) |
I38T |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,258,602 (GRCm39) |
R563* |
probably null |
Het |
| Car7 |
T |
A |
8: 105,276,180 (GRCm39) |
|
probably null |
Het |
| Chml |
T |
C |
1: 175,515,271 (GRCm39) |
T217A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,307,813 (GRCm39) |
N3042K |
probably damaging |
Het |
| Efcab2 |
T |
G |
1: 178,264,957 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,208,174 (GRCm39) |
E397G |
probably damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,094 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,227 (GRCm39) |
E128G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,096 (GRCm39) |
D663G |
probably damaging |
Het |
| Fndc10 |
T |
A |
4: 155,779,433 (GRCm39) |
V159D |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,633,164 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,876,409 (GRCm39) |
|
probably null |
Het |
| Igdcc3 |
A |
G |
9: 65,085,152 (GRCm39) |
T199A |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,739,047 (GRCm39) |
V285A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,062,101 (GRCm39) |
S443G |
possibly damaging |
Het |
| Med22 |
C |
T |
2: 26,799,004 (GRCm39) |
|
probably null |
Het |
| Or7c70 |
G |
T |
10: 78,683,207 (GRCm39) |
L181I |
possibly damaging |
Het |
| Pals2 |
G |
A |
6: 50,140,472 (GRCm39) |
R164Q |
probably benign |
Het |
| Pcnt |
T |
G |
10: 76,204,656 (GRCm39) |
D2583A |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,977,054 (GRCm39) |
R598Q |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,906,575 (GRCm39) |
V646A |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,319 (GRCm39) |
V412D |
probably damaging |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,123 (GRCm39) |
S129R |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,346,526 (GRCm39) |
I349V |
probably benign |
Het |
| Rorb |
C |
T |
19: 18,934,698 (GRCm39) |
G224D |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,757 (GRCm39) |
I508F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,628,079 (GRCm39) |
V619M |
probably damaging |
Het |
| Tgm7 |
A |
T |
2: 120,931,514 (GRCm39) |
D216E |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,329,200 (GRCm39) |
D493G |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,583,598 (GRCm39) |
C749S |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,519 (GRCm39) |
N284D |
possibly damaging |
Het |
|
| Other mutations in Gpr63 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01673:Gpr63
|
APN |
4 |
25,008,014 (GRCm39) |
missense |
probably benign |
0.04 |
|
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 |
2013-12-09 |
Incidental Mutation