Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01022:Oca2'

53703

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

Is this an essential gene?

Possibly non essential (E-score: 0.278) question?

Stock #

IGL01022

Quality Score

Status

Chromosome

Chromosomal Location

56239760-56536518 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 56324756 bp

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]

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: 61,202,942	S927P	probably benign	Het
Arfgef1	G	T	1: 10,174,076	F987L	probably damaging	Het
Asph	A	T	4: 9,601,344	N191K	possibly damaging	Het
Bmpr1b	A	T	3: 141,871,338	C71S	probably damaging	Het
Bod1l	A	T	5: 41,794,309	S2920T	probably damaging	Het
Camta2	G	A	11: 70,671,482	R1030*	probably null	Het
Chd8	T	C	14: 52,236,993	T194A	probably benign	Het
Col9a3	A	T	2: 180,616,434	I549F	probably damaging	Het
Fstl4	A	G	11: 53,186,741	N775S	probably benign	Het
Gm10800	T	A	2: 98,667,231		probably benign	Het
Gm5117	T	A	8: 31,738,487		noncoding transcript	Het
Hap1	A	G	11: 100,349,548	L112P	probably benign	Het
Hcls1	C	A	16: 36,951,126		probably benign	Het
Kmt2c	A	G	5: 25,302,701		probably benign	Het
Lct	T	A	1: 128,300,859	I966L	probably benign	Het
Myo1h	A	T	5: 114,336,300	I451F	possibly damaging	Het
Notch4	G	A	17: 34,565,697	C128Y	probably damaging	Het
Olfr585	T	G	7: 103,097,870	L43R	probably damaging	Het
Olfr8	A	T	10: 78,955,354	I50F	possibly damaging	Het
Rprd2	T	A	3: 95,763,754	R1362*	probably null	Het
Sema3a	C	T	5: 13,473,466	T134I	probably damaging	Het
Sfta2	C	T	17: 35,650,444	T74I	possibly damaging	Het
Slfn10-ps	C	T	11: 83,035,527		noncoding transcript	Het
Spag11a	A	T	8: 19,157,989	Q15H	probably damaging	Het
Tbc1d22a	G	A	15: 86,301,555	D282N	probably damaging	Het
Tmbim6	G	A	15: 99,402,122	V40M	possibly damaging	Het
Tmem259	A	G	10: 79,983,974	V22A	probably damaging	Het
Tnik	T	C	3: 28,625,228		probably null	Het
Unc13c	T	C	9: 73,517,328	D2002G	probably benign	Het

Other mutations in Oca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Oca2	APN	7	56280846	missense	probably damaging	0.99
IGL01666:Oca2	APN	7	56314811	splice site	probably null
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
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
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
Z1088:Oca2	UTSW	7	56330375	missense	probably null	0.83

Posted On

2013-06-28