Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01666:Oca2'

103322

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) question?

Stock #

IGL01666

Quality Score

Status

Chromosome

Chromosomal Location

55889508-56186266 bp(+) (GRCm39)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 55964559 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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb3	C	A	1: 25,499,832 (GRCm39)	A664S	probably damaging	Het
Ankrd61	T	A	5: 143,827,954 (GRCm39)	L297F	probably damaging	Het
Chrnd	A	T	1: 87,126,458 (GRCm39)	S513C	possibly damaging	Het
Col24a1	G	A	3: 145,050,447 (GRCm39)	V645M	possibly damaging	Het
Csn3	T	C	5: 88,078,016 (GRCm39)	V174A	unknown	Het
D630039A03Rik	C	T	4: 57,910,570 (GRCm39)	V81I	possibly damaging	Het
Deptor	G	A	15: 55,012,775 (GRCm39)	R54Q	probably damaging	Het
Ell	A	G	8: 71,038,463 (GRCm39)	H400R	probably benign	Het
Fcgbpl1	G	A	7: 27,852,717 (GRCm39)	V1335M	probably damaging	Het
Itga2	A	G	13: 114,973,627 (GRCm39)		probably null	Het
Itpr3	A	G	17: 27,336,152 (GRCm39)	I2293V	probably benign	Het
Matcap2	A	G	9: 22,342,994 (GRCm39)	D163G	probably benign	Het
Mmut	T	C	17: 41,269,702 (GRCm39)	L687P	probably damaging	Het
Mrps27	A	G	13: 99,546,324 (GRCm39)	E241G	probably damaging	Het
Myh9	C	T	15: 77,646,131 (GRCm39)	A1951T	probably benign	Het
Or2n1c	C	T	17: 38,519,780 (GRCm39)	L215F	probably benign	Het
Or6d15	T	A	6: 116,559,296 (GRCm39)	I204F	possibly damaging	Het
Ptgdr2	T	C	19: 10,918,274 (GRCm39)	F264L	probably benign	Het
Ptpn23	T	C	9: 110,215,613 (GRCm39)	T1384A	possibly damaging	Het
Rasgrf2	A	T	13: 92,174,718 (GRCm39)	D170E	probably damaging	Het
Rnf20	C	T	4: 49,654,486 (GRCm39)	Q848*	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
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

2014-01-21