Incidental Mutation 'IGL02314:Oca2'
ID |
287938 |
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 # |
IGL02314
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 56006899 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 662
(I662N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032633]
[ENSMUST00000144739]
[ENSMUST00000152693]
|
AlphaFold |
Q62052 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032633
AA Change: I662N
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000032633 Gene: ENSMUSG00000030450 AA Change: I662N
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 |
|
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg2 |
T |
A |
4: 47,472,143 (GRCm39) |
K94* |
probably null |
Het |
Axl |
A |
G |
7: 25,486,345 (GRCm39) |
F120L |
possibly damaging |
Het |
Baz2b |
A |
G |
2: 59,792,571 (GRCm39) |
V519A |
probably benign |
Het |
Cdk2 |
A |
T |
10: 128,539,595 (GRCm39) |
I99N |
probably damaging |
Het |
Ces1b |
C |
A |
8: 93,791,524 (GRCm39) |
W358C |
possibly damaging |
Het |
Cimap1b |
T |
G |
15: 89,262,372 (GRCm39) |
K82N |
probably damaging |
Het |
Clca3b |
A |
G |
3: 144,533,903 (GRCm39) |
|
probably benign |
Het |
Col6a4 |
T |
G |
9: 105,874,355 (GRCm39) |
T2211P |
probably damaging |
Het |
Cyp4f14 |
C |
T |
17: 33,125,265 (GRCm39) |
E438K |
probably benign |
Het |
Dpy19l4 |
T |
A |
4: 11,267,720 (GRCm39) |
T407S |
possibly damaging |
Het |
Dtx3 |
G |
A |
10: 127,026,828 (GRCm39) |
|
probably benign |
Het |
Eif1ad14 |
T |
A |
12: 87,886,377 (GRCm39) |
Y84F |
probably benign |
Het |
Fat3 |
A |
T |
9: 15,881,134 (GRCm39) |
L3246H |
possibly damaging |
Het |
Fat4 |
A |
T |
3: 38,941,779 (GRCm39) |
D224V |
probably damaging |
Het |
Fndc9 |
A |
T |
11: 46,129,122 (GRCm39) |
I214F |
probably benign |
Het |
Foxred1 |
A |
T |
9: 35,117,264 (GRCm39) |
I22N |
probably damaging |
Het |
Gkn1 |
T |
C |
6: 87,326,103 (GRCm39) |
D29G |
probably benign |
Het |
Gng11 |
T |
A |
6: 4,004,317 (GRCm39) |
M1K |
probably null |
Het |
Hdac7 |
T |
C |
15: 97,706,885 (GRCm39) |
D237G |
probably damaging |
Het |
Hgf |
A |
G |
5: 16,777,600 (GRCm39) |
Y199C |
probably damaging |
Het |
Hgfac |
A |
T |
5: 35,198,941 (GRCm39) |
M1L |
probably benign |
Het |
Hsd17b6 |
T |
C |
10: 127,833,777 (GRCm39) |
T35A |
probably damaging |
Het |
Htr3a |
G |
A |
9: 48,815,927 (GRCm39) |
P170L |
probably damaging |
Het |
Ighv12-3 |
A |
G |
12: 114,330,421 (GRCm39) |
S25P |
probably damaging |
Het |
Jph2 |
A |
T |
2: 163,239,273 (GRCm39) |
N58K |
probably damaging |
Het |
Lama5 |
A |
G |
2: 179,836,275 (GRCm39) |
|
probably benign |
Het |
Lpin3 |
T |
A |
2: 160,740,638 (GRCm39) |
Y394* |
probably null |
Het |
Macf1 |
G |
T |
4: 123,338,630 (GRCm39) |
T2248K |
probably damaging |
Het |
Map3k2 |
A |
G |
18: 32,351,553 (GRCm39) |
|
probably benign |
Het |
Map4k5 |
G |
A |
12: 69,865,213 (GRCm39) |
P524S |
probably benign |
Het |
Mcf2l |
C |
T |
8: 13,051,851 (GRCm39) |
S359L |
probably damaging |
Het |
Mdh1b |
C |
T |
1: 63,750,273 (GRCm39) |
|
probably null |
Het |
Mfhas1 |
G |
A |
8: 36,055,927 (GRCm39) |
R134H |
probably damaging |
Het |
Mogs |
A |
G |
6: 83,095,036 (GRCm39) |
T618A |
probably benign |
Het |
Mybpc2 |
T |
A |
7: 44,171,812 (GRCm39) |
Q39H |
possibly damaging |
Het |
Myoc |
C |
T |
1: 162,466,917 (GRCm39) |
R29W |
probably damaging |
Het |
Nae1 |
A |
G |
8: 105,252,938 (GRCm39) |
M162T |
probably damaging |
Het |
Nfatc3 |
A |
G |
8: 106,805,532 (GRCm39) |
I126V |
probably benign |
Het |
Nxnl2 |
C |
A |
13: 51,325,565 (GRCm39) |
F69L |
probably benign |
Het |
Or52b3 |
A |
T |
7: 102,204,318 (GRCm39) |
I276F |
probably damaging |
Het |
Or5w8 |
A |
G |
2: 87,688,400 (GRCm39) |
N294D |
probably damaging |
Het |
Or7c70 |
A |
T |
10: 78,683,099 (GRCm39) |
S217T |
probably damaging |
Het |
Or7e176 |
A |
T |
9: 20,171,774 (GRCm39) |
I213L |
probably benign |
Het |
Pcdhb14 |
G |
A |
18: 37,583,248 (GRCm39) |
E785K |
probably benign |
Het |
Plb1 |
A |
C |
5: 32,438,492 (GRCm39) |
Y209S |
possibly damaging |
Het |
Pramel24 |
T |
C |
4: 143,455,012 (GRCm39) |
S437P |
probably benign |
Het |
Rab44 |
C |
A |
17: 29,358,327 (GRCm39) |
Q172K |
probably benign |
Het |
Rnf214 |
A |
T |
9: 45,811,105 (GRCm39) |
V186E |
probably benign |
Het |
Rps6ka1 |
C |
A |
4: 133,578,065 (GRCm39) |
G522W |
probably damaging |
Het |
Samhd1 |
G |
T |
2: 156,976,948 (GRCm39) |
T21K |
probably damaging |
Het |
Scly |
A |
G |
1: 91,246,763 (GRCm39) |
Y358C |
probably benign |
Het |
Sfxn2 |
A |
G |
19: 46,571,026 (GRCm39) |
N29D |
possibly damaging |
Het |
Shank2 |
A |
G |
7: 143,965,008 (GRCm39) |
D1451G |
probably benign |
Het |
Slc44a5 |
G |
A |
3: 153,962,156 (GRCm39) |
S363N |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,753,932 (GRCm39) |
|
probably benign |
Het |
Tas1r3 |
A |
T |
4: 155,945,119 (GRCm39) |
C701S |
probably damaging |
Het |
Tmem87a |
A |
G |
2: 120,234,502 (GRCm39) |
S14P |
possibly damaging |
Het |
Trmt6 |
G |
A |
2: 132,647,378 (GRCm39) |
A486V |
probably benign |
Het |
Ttn |
G |
A |
2: 76,727,091 (GRCm39) |
R1602* |
probably null |
Het |
Ush2a |
A |
G |
1: 188,365,826 (GRCm39) |
M2227V |
probably benign |
Het |
Vmn2r96 |
A |
T |
17: 18,804,221 (GRCm39) |
Q490H |
probably benign |
Het |
Wdr19 |
G |
T |
5: 65,414,463 (GRCm39) |
A1279S |
probably benign |
Het |
Zbtb7c |
G |
A |
18: 76,278,937 (GRCm39) |
R465H |
probably damaging |
Het |
Zfp473 |
T |
C |
7: 44,383,353 (GRCm39) |
S326G |
probably benign |
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 |
|
IGL02157:Oca2
|
APN |
7 |
55,974,545 (GRCm39) |
splice site |
probably null |
|
IGL02213:Oca2
|
APN |
7 |
55,971,232 (GRCm39) |
splice site |
probably benign |
|
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 |