Incidental Mutation 'IGL01022:Oca2'
ID |
53703 |
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 # |
IGL01022
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
55889508-56186266 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 55974504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 484
(N484K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000032633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032633]
[ENSMUST00000144739]
[ENSMUST00000152693]
|
AlphaFold |
Q62052 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000032633
AA Change: N484K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000032633 Gene: ENSMUSG00000030450 AA Change: N484K
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts14 |
A |
G |
10: 61,038,721 (GRCm39) |
S927P |
probably benign |
Het |
Arfgef1 |
G |
T |
1: 10,244,301 (GRCm39) |
F987L |
probably damaging |
Het |
Asph |
A |
T |
4: 9,601,344 (GRCm39) |
N191K |
possibly damaging |
Het |
Bmpr1b |
A |
T |
3: 141,577,099 (GRCm39) |
C71S |
probably damaging |
Het |
Bod1l |
A |
T |
5: 41,951,652 (GRCm39) |
S2920T |
probably damaging |
Het |
Camta2 |
G |
A |
11: 70,562,308 (GRCm39) |
R1030* |
probably null |
Het |
Chd8 |
T |
C |
14: 52,474,450 (GRCm39) |
T194A |
probably benign |
Het |
Col9a3 |
A |
T |
2: 180,258,227 (GRCm39) |
I549F |
probably damaging |
Het |
Fstl4 |
A |
G |
11: 53,077,568 (GRCm39) |
N775S |
probably benign |
Het |
Gm10800 |
T |
A |
2: 98,497,576 (GRCm39) |
|
probably benign |
Het |
Gm5117 |
T |
A |
8: 32,228,515 (GRCm39) |
|
noncoding transcript |
Het |
Hap1 |
A |
G |
11: 100,240,374 (GRCm39) |
L112P |
probably benign |
Het |
Hcls1 |
C |
A |
16: 36,771,488 (GRCm39) |
|
probably benign |
Het |
Kmt2c |
A |
G |
5: 25,507,699 (GRCm39) |
|
probably benign |
Het |
Lct |
T |
A |
1: 128,228,596 (GRCm39) |
I966L |
probably benign |
Het |
Myo1h |
A |
T |
5: 114,474,361 (GRCm39) |
I451F |
possibly damaging |
Het |
Notch4 |
G |
A |
17: 34,784,671 (GRCm39) |
C128Y |
probably damaging |
Het |
Or51f1e |
T |
G |
7: 102,747,077 (GRCm39) |
L43R |
probably damaging |
Het |
Or7a42 |
A |
T |
10: 78,791,188 (GRCm39) |
I50F |
possibly damaging |
Het |
Rprd2 |
T |
A |
3: 95,671,066 (GRCm39) |
R1362* |
probably null |
Het |
Sema3a |
C |
T |
5: 13,523,433 (GRCm39) |
T134I |
probably damaging |
Het |
Sfta2 |
C |
T |
17: 35,961,336 (GRCm39) |
T74I |
possibly damaging |
Het |
Slfn10-ps |
C |
T |
11: 82,926,353 (GRCm39) |
|
noncoding transcript |
Het |
Spag11a |
A |
T |
8: 19,208,005 (GRCm39) |
Q15H |
probably damaging |
Het |
Tbc1d22a |
G |
A |
15: 86,185,756 (GRCm39) |
D282N |
probably damaging |
Het |
Tmbim6 |
G |
A |
15: 99,300,003 (GRCm39) |
V40M |
possibly damaging |
Het |
Tmem259 |
A |
G |
10: 79,819,808 (GRCm39) |
V22A |
probably damaging |
Het |
Tnik |
T |
C |
3: 28,679,377 (GRCm39) |
|
probably null |
Het |
Unc13c |
T |
C |
9: 73,424,610 (GRCm39) |
D2002G |
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 |
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 |
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 |
2013-06-28 |