Incidental Mutation 'IGL03356:Oca2'
| ID |
419936 |
| 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 # |
IGL03356
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 56185716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Arginine
at position 814
(M814R)
|
| 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: M814R
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: M814R
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1bg |
A |
C |
15: 60,791,737 (GRCm39) |
M233R |
probably benign |
Het |
| Aadat |
T |
C |
8: 60,984,725 (GRCm39) |
M256T |
probably damaging |
Het |
| Adamts16 |
T |
C |
13: 70,901,410 (GRCm39) |
N889S |
probably benign |
Het |
| Camkk2 |
A |
T |
5: 122,881,937 (GRCm39) |
I235N |
probably damaging |
Het |
| Card6 |
C |
T |
15: 5,129,723 (GRCm39) |
A558T |
probably benign |
Het |
| Ccdc175 |
T |
G |
12: 72,186,667 (GRCm39) |
|
probably null |
Het |
| Crot |
A |
G |
5: 9,038,295 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
A |
G |
19: 39,628,405 (GRCm39) |
S180P |
probably damaging |
Het |
| Ddx55 |
A |
G |
5: 124,692,816 (GRCm39) |
N81S |
possibly damaging |
Het |
| Dennd3 |
C |
T |
15: 73,440,482 (GRCm39) |
T1171M |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,543,093 (GRCm39) |
D2359G |
probably benign |
Het |
| Dpp8 |
T |
A |
9: 64,953,069 (GRCm39) |
N248K |
probably benign |
Het |
| Ganc |
T |
C |
2: 120,265,769 (GRCm39) |
I439T |
probably benign |
Het |
| Gdpgp1 |
T |
C |
7: 79,888,443 (GRCm39) |
I158T |
possibly damaging |
Het |
| Grm3 |
T |
C |
5: 9,562,206 (GRCm39) |
D548G |
possibly damaging |
Het |
| H2-DMb1 |
T |
A |
17: 34,376,514 (GRCm39) |
|
probably benign |
Het |
| Hecw2 |
A |
G |
1: 53,966,217 (GRCm39) |
|
probably benign |
Het |
| Hs3st2 |
A |
G |
7: 120,992,389 (GRCm39) |
E113G |
probably damaging |
Het |
| Hspa4 |
C |
A |
11: 53,160,627 (GRCm39) |
R483L |
probably damaging |
Het |
| Ik |
C |
A |
18: 36,889,657 (GRCm39) |
S490R |
probably damaging |
Het |
| Ldlrad1 |
G |
A |
4: 107,072,035 (GRCm39) |
V86M |
possibly damaging |
Het |
| Mfsd4b1 |
A |
C |
10: 39,878,827 (GRCm39) |
F357V |
probably damaging |
Het |
| Ndufa9 |
A |
G |
6: 126,821,813 (GRCm39) |
V54A |
possibly damaging |
Het |
| Nfe2l2 |
A |
G |
2: 75,509,544 (GRCm39) |
I92T |
probably benign |
Het |
| Oas1a |
A |
G |
5: 121,043,908 (GRCm39) |
S75P |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,662,249 (GRCm39) |
T879A |
probably benign |
Het |
| Potefam3e |
A |
G |
8: 19,799,463 (GRCm39) |
I304V |
probably benign |
Het |
| Rpe65 |
A |
T |
3: 159,321,214 (GRCm39) |
Y342F |
possibly damaging |
Het |
| Satb2 |
T |
C |
1: 56,930,333 (GRCm39) |
K230R |
probably damaging |
Het |
| Slc4a4 |
A |
G |
5: 89,270,342 (GRCm39) |
T297A |
probably benign |
Het |
| Slpi |
T |
C |
2: 164,198,129 (GRCm39) |
T22A |
probably benign |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Synj1 |
A |
G |
16: 90,784,280 (GRCm39) |
F286S |
probably damaging |
Het |
| Tektl1 |
A |
G |
10: 78,582,966 (GRCm39) |
C473R |
possibly damaging |
Het |
| Tigd2 |
T |
A |
6: 59,188,690 (GRCm39) |
I519K |
probably benign |
Het |
| Tyr |
G |
T |
7: 87,141,922 (GRCm39) |
L136I |
possibly damaging |
Het |
| Vmn1r34 |
A |
T |
6: 66,613,970 (GRCm39) |
M256K |
probably benign |
Het |
| Zmym2 |
T |
A |
14: 57,194,517 (GRCm39) |
C1258* |
probably null |
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation