Incidental Mutation 'IGL02157:Oca2'
ID |
282290 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Oca2
|
Ensembl Gene |
ENSMUSG00000030450 |
Gene Name |
oculocutaneous albinism II |
Synonyms |
p, D7H15S12, D7H15S12 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.106)
|
Stock # |
IGL02157
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
Type of Mutation |
splice site (5 bp from exon) |
DNA Base Change (assembly) |
G to A
at 55974545 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032633]
[ENSMUST00000144739]
[ENSMUST00000152693]
|
AlphaFold |
Q62052 |
Predicted Effect |
probably null
Transcript: ENSMUST00000032633
|
SMART Domains |
Protein: ENSMUSP00000032633 Gene: ENSMUSG00000030450
Domain | Start | End | E-Value | Type |
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
Pfam:ArsB
|
319 |
558 |
2e-10 |
PFAM |
Pfam:CitMHS
|
337 |
770 |
2e-49 |
PFAM |
Pfam:ArsB
|
562 |
827 |
8.9e-9 |
PFAM |
Pfam:Na_sulph_symp
|
573 |
832 |
6e-13 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144739
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152693
|
SMART Domains |
Protein: ENSMUSP00000119099 Gene: ENSMUSG00000030450
Domain | Start | End | E-Value | Type |
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154559
|
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 the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014] PHENOTYPE: Mutations generally result in varying degrees of coat and eye pigment dilution. Specific alleles produce cleft palate, reproductive, endocrine or neurological disorders, and/or lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1b |
T |
C |
5: 8,855,487 (GRCm39) |
|
probably benign |
Het |
Amotl1 |
A |
T |
9: 14,483,011 (GRCm39) |
|
probably benign |
Het |
Amph |
A |
T |
13: 19,288,401 (GRCm39) |
T297S |
possibly damaging |
Het |
Arhgap31 |
A |
G |
16: 38,444,263 (GRCm39) |
V198A |
probably damaging |
Het |
Bop1 |
T |
C |
15: 76,339,772 (GRCm39) |
D216G |
possibly damaging |
Het |
Cdh13 |
T |
C |
8: 119,232,410 (GRCm39) |
I38T |
possibly damaging |
Het |
Clmn |
T |
C |
12: 104,748,177 (GRCm39) |
T457A |
probably benign |
Het |
Clstn2 |
A |
C |
9: 97,423,928 (GRCm39) |
M279R |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Fam83h |
A |
T |
15: 75,876,904 (GRCm39) |
V208E |
probably damaging |
Het |
Fer |
A |
G |
17: 64,445,894 (GRCm39) |
N785S |
probably benign |
Het |
Fnip1 |
T |
C |
11: 54,378,589 (GRCm39) |
L225P |
probably damaging |
Het |
Gbp11 |
C |
T |
5: 105,475,374 (GRCm39) |
V325M |
possibly damaging |
Het |
Glis1 |
A |
G |
4: 107,484,758 (GRCm39) |
T418A |
probably benign |
Het |
Hook2 |
C |
T |
8: 85,727,779 (GRCm39) |
|
probably benign |
Het |
Hoxa6 |
C |
A |
6: 52,185,171 (GRCm39) |
C145F |
possibly damaging |
Het |
Lyst |
G |
A |
13: 13,835,541 (GRCm39) |
C1741Y |
probably benign |
Het |
Mbd5 |
T |
C |
2: 49,168,987 (GRCm39) |
V1156A |
probably benign |
Het |
Mon2 |
G |
A |
10: 122,849,377 (GRCm39) |
P1308S |
probably damaging |
Het |
Mta2 |
T |
A |
19: 8,924,613 (GRCm39) |
|
probably benign |
Het |
Nup188 |
T |
A |
2: 30,219,385 (GRCm39) |
L867* |
probably null |
Het |
Or13a22 |
T |
A |
7: 140,072,847 (GRCm39) |
C99S |
probably damaging |
Het |
Or6c88 |
A |
G |
10: 129,407,019 (GRCm39) |
E165G |
probably damaging |
Het |
Or7e166 |
T |
A |
9: 19,624,585 (GRCm39) |
V154E |
probably benign |
Het |
Plekhh2 |
A |
G |
17: 84,874,370 (GRCm39) |
|
probably benign |
Het |
Pramel22 |
A |
T |
4: 143,380,947 (GRCm39) |
C359S |
probably damaging |
Het |
Rhbdd3 |
T |
C |
11: 5,055,424 (GRCm39) |
|
probably benign |
Het |
Timeless |
T |
A |
10: 128,078,255 (GRCm39) |
V255E |
probably benign |
Het |
Tmt1b |
T |
G |
10: 128,796,486 (GRCm39) |
T108P |
possibly damaging |
Het |
Trh |
A |
T |
6: 92,219,948 (GRCm39) |
S123T |
probably benign |
Het |
Ugdh |
C |
T |
5: 65,580,035 (GRCm39) |
A252T |
probably damaging |
Het |
Zfp619 |
A |
G |
7: 39,184,288 (GRCm39) |
Y106C |
probably damaging |
Het |
Zic5 |
G |
A |
14: 122,696,924 (GRCm39) |
P564S |
unknown |
Het |
|
Other mutations in Oca2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00509:Oca2
|
APN |
7 |
55,930,594 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01022:Oca2
|
APN |
7 |
55,974,504 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01666:Oca2
|
APN |
7 |
55,964,559 (GRCm39) |
splice site |
probably null |
|
IGL02213:Oca2
|
APN |
7 |
55,971,232 (GRCm39) |
splice site |
probably benign |
|
IGL02314:Oca2
|
APN |
7 |
56,006,899 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03083:Oca2
|
APN |
7 |
55,945,232 (GRCm39) |
missense |
probably benign |
0.28 |
IGL03356:Oca2
|
APN |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.01 |
charbon
|
UTSW |
7 |
55,966,153 (GRCm39) |
missense |
probably damaging |
1.00 |
cotton
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
cutworm
|
UTSW |
7 |
55,966,168 (GRCm39) |
missense |
probably damaging |
1.00 |
Dirk
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
draco1
|
UTSW |
7 |
56,073,100 (GRCm39) |
missense |
probably benign |
0.00 |
faded
|
UTSW |
7 |
55,974,409 (GRCm39) |
missense |
probably benign |
0.19 |
hardy
|
UTSW |
7 |
55,945,208 (GRCm39) |
missense |
probably damaging |
1.00 |
narwhal
|
UTSW |
7 |
55,945,246 (GRCm39) |
nonsense |
probably null |
|
quicksilver
|
UTSW |
7 |
55,974,409 (GRCm39) |
missense |
probably benign |
0.19 |
renesmee
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
slush
|
UTSW |
7 |
55,927,189 (GRCm39) |
critical splice donor site |
probably null |
|
snowflake
|
UTSW |
7 |
55,974,428 (GRCm39) |
missense |
probably damaging |
1.00 |
whitemouse
|
UTSW |
7 |
56,064,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R0440:Oca2
|
UTSW |
7 |
56,073,100 (GRCm39) |
missense |
probably benign |
0.00 |
R1067:Oca2
|
UTSW |
7 |
55,966,141 (GRCm39) |
missense |
probably damaging |
1.00 |
R1349:Oca2
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
R1372:Oca2
|
UTSW |
7 |
56,185,716 (GRCm39) |
missense |
probably benign |
0.00 |
R1457:Oca2
|
UTSW |
7 |
55,971,269 (GRCm39) |
missense |
probably damaging |
1.00 |
R1737:Oca2
|
UTSW |
7 |
55,978,533 (GRCm39) |
missense |
probably damaging |
1.00 |
R1802:Oca2
|
UTSW |
7 |
55,904,728 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1957:Oca2
|
UTSW |
7 |
55,971,246 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1966:Oca2
|
UTSW |
7 |
56,064,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R2082:Oca2
|
UTSW |
7 |
55,946,885 (GRCm39) |
missense |
probably benign |
0.01 |
R2229:Oca2
|
UTSW |
7 |
56,006,903 (GRCm39) |
missense |
probably benign |
0.11 |
R4120:Oca2
|
UTSW |
7 |
55,904,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R4192:Oca2
|
UTSW |
7 |
55,946,997 (GRCm39) |
missense |
probably damaging |
1.00 |
R4405:Oca2
|
UTSW |
7 |
56,064,182 (GRCm39) |
missense |
possibly damaging |
0.63 |
R4654:Oca2
|
UTSW |
7 |
55,978,560 (GRCm39) |
missense |
probably benign |
0.44 |
R4701:Oca2
|
UTSW |
7 |
55,904,750 (GRCm39) |
missense |
probably benign |
0.00 |
R4887:Oca2
|
UTSW |
7 |
55,980,106 (GRCm39) |
nonsense |
probably null |
|
R5053:Oca2
|
UTSW |
7 |
55,973,328 (GRCm39) |
missense |
probably benign |
0.02 |
R5215:Oca2
|
UTSW |
7 |
55,945,246 (GRCm39) |
nonsense |
probably null |
|
R5430:Oca2
|
UTSW |
7 |
55,945,208 (GRCm39) |
missense |
probably damaging |
1.00 |
R5677:Oca2
|
UTSW |
7 |
56,064,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R6416:Oca2
|
UTSW |
7 |
55,978,515 (GRCm39) |
missense |
probably benign |
0.44 |
R6645:Oca2
|
UTSW |
7 |
55,964,522 (GRCm39) |
missense |
probably benign |
0.21 |
R7257:Oca2
|
UTSW |
7 |
55,929,286 (GRCm39) |
intron |
probably benign |
|
R7409:Oca2
|
UTSW |
7 |
56,064,145 (GRCm39) |
missense |
probably benign |
0.00 |
R7530:Oca2
|
UTSW |
7 |
55,981,720 (GRCm39) |
missense |
probably damaging |
0.99 |
R7820:Oca2
|
UTSW |
7 |
55,981,713 (GRCm39) |
missense |
probably damaging |
1.00 |
R9043:Oca2
|
UTSW |
7 |
55,927,189 (GRCm39) |
critical splice donor site |
probably null |
|
R9153:Oca2
|
UTSW |
7 |
55,943,586 (GRCm39) |
missense |
probably benign |
0.00 |
R9205:Oca2
|
UTSW |
7 |
55,966,168 (GRCm39) |
missense |
probably damaging |
1.00 |
R9681:Oca2
|
UTSW |
7 |
55,943,623 (GRCm39) |
missense |
probably null |
1.00 |
Z1088:Oca2
|
UTSW |
7 |
55,980,123 (GRCm39) |
missense |
probably null |
0.83 |
|
Posted On |
2015-04-16 |