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

D7H15S12, p, D7H15S12

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.180) question?

Stock #

IGL01666

Quality Score

Status

Chromosome

Chromosomal Location

56239760-56536518 bp(+) (GRCm38)

Type of Mutation

splice site (5 bp from exon)

DNA Base Change (assembly)

G to A at 56314811 bp (GRCm38)

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
9530053A07Rik	G	A	7: 28,153,292	V1335M	probably damaging	Het
9530077C05Rik	A	G	9: 22,431,698	D163G	probably benign	Het
Adgrb3	C	A	1: 25,460,751	A664S	probably damaging	Het
Ankrd61	T	A	5: 143,891,136	L297F	probably damaging	Het
Chrnd	A	T	1: 87,198,736	S513C	possibly damaging	Het
Col24a1	G	A	3: 145,344,686	V645M	possibly damaging	Het
Csn3	T	C	5: 87,930,157	V174A	unknown	Het
D630039A03Rik	C	T	4: 57,910,570	V81I	possibly damaging	Het
Deptor	G	A	15: 55,149,379	R54Q	probably damaging	Het
Ell	A	G	8: 70,585,813	H400R	probably benign	Het
Itga2	A	G	13: 114,837,091		probably null	Het
Itpr3	A	G	17: 27,117,178	I2293V	probably benign	Het
Mrps27	A	G	13: 99,409,816	E241G	probably damaging	Het
Mut	T	C	17: 40,958,811	L687P	probably damaging	Het
Myh9	C	T	15: 77,761,931	A1951T	probably benign	Het
Olfr135	C	T	17: 38,208,889	L215F	probably benign	Het
Olfr215	T	A	6: 116,582,335	I204F	possibly damaging	Het
Ptgdr2	T	C	19: 10,940,910	F264L	probably benign	Het
Ptpn23	T	C	9: 110,386,545	T1384A	possibly damaging	Het
Rasgrf2	A	T	13: 92,038,210	D170E	probably damaging	Het
Rnf20	C	T	4: 49,654,486	Q848*	probably null	Het

Other mutations in Oca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Oca2	APN	7	56280846	missense	probably damaging	0.99
IGL01022:Oca2	APN	7	56324756	missense	probably damaging	1.00
IGL02157:Oca2	APN	7	56324797	splice site	probably null
IGL02213:Oca2	APN	7	56321484	splice site	probably benign
IGL02314:Oca2	APN	7	56357151	missense	probably benign	0.00
IGL03083:Oca2	APN	7	56295484	missense	probably benign	0.28
IGL03356:Oca2	APN	7	56535968	missense	probably benign	0.01
charbon	UTSW	7	56316405	missense	probably damaging	1.00
cotton	UTSW	7	56535968	missense	probably benign	0.00
cutworm	UTSW	7	56316420	missense	probably damaging	1.00
Dirk	UTSW	7	56535968	missense	probably benign	0.00
draco1	UTSW	7	56423352	missense	probably benign	0.00
faded	UTSW	7	56324661	missense	probably benign	0.19
hardy	UTSW	7	56295460	missense	probably damaging	1.00
narwhal	UTSW	7	56295498	nonsense	probably null
quicksilver	UTSW	7	56324661	missense	probably benign	0.19
renesmee	UTSW	7	56535968	missense	probably benign	0.00
slush	UTSW	7	56277441	critical splice donor site	probably null
snowflake	UTSW	7	56324680	missense	probably damaging	1.00
whitemouse	UTSW	7	56414431	missense	probably damaging	1.00
R0440:Oca2	UTSW	7	56423352	missense	probably benign	0.00
R1067:Oca2	UTSW	7	56316393	missense	probably damaging	1.00
R1349:Oca2	UTSW	7	56535968	missense	probably benign	0.00
R1372:Oca2	UTSW	7	56535968	missense	probably benign	0.00
R1457:Oca2	UTSW	7	56321521	missense	probably damaging	1.00
R1737:Oca2	UTSW	7	56328785	missense	probably damaging	1.00
R1802:Oca2	UTSW	7	56254980	missense	possibly damaging	0.96
R1957:Oca2	UTSW	7	56321498	missense	possibly damaging	0.82
R1966:Oca2	UTSW	7	56414467	missense	probably damaging	0.99
R2082:Oca2	UTSW	7	56297137	missense	probably benign	0.01
R2229:Oca2	UTSW	7	56357155	missense	probably benign	0.11
R4120:Oca2	UTSW	7	56254882	missense	probably damaging	1.00
R4192:Oca2	UTSW	7	56297249	missense	probably damaging	1.00
R4405:Oca2	UTSW	7	56414434	missense	possibly damaging	0.63
R4654:Oca2	UTSW	7	56328812	missense	probably benign	0.44
R4701:Oca2	UTSW	7	56255002	missense	probably benign	0.00
R4887:Oca2	UTSW	7	56330358	nonsense	probably null
R5053:Oca2	UTSW	7	56323580	missense	probably benign	0.02
R5215:Oca2	UTSW	7	56295498	nonsense	probably null
R5430:Oca2	UTSW	7	56295460	missense	probably damaging	1.00
R5677:Oca2	UTSW	7	56414462	missense	probably damaging	1.00
R6416:Oca2	UTSW	7	56328767	missense	probably benign	0.44
R6645:Oca2	UTSW	7	56314774	missense	probably benign	0.21
R7257:Oca2	UTSW	7	56279538	intron	probably benign
R7409:Oca2	UTSW	7	56414397	missense	probably benign	0.00
R7530:Oca2	UTSW	7	56331972	missense	probably damaging	0.99
R7820:Oca2	UTSW	7	56331965	missense	probably damaging	1.00
R9043:Oca2	UTSW	7	56277441	critical splice donor site	probably null
R9153:Oca2	UTSW	7	56293838	missense	probably benign	0.00
R9205:Oca2	UTSW	7	56316420	missense	probably damaging	1.00
R9681:Oca2	UTSW	7	56293875	missense	probably null	1.00
Z1088:Oca2	UTSW	7	56330375	missense	probably null	0.83

Posted On

2014-01-21