Mutagenetix > Incidental Mutation

Incidental Mutation 'R9043:Oca2'

687838

Institutional Source

Beutler Lab

Gene Symbol

Oca2

Ensembl Gene

ENSMUSG00000030450

Gene Name

oculocutaneous albinism II

Synonyms

p, D7H15S12, D7H15S12

MMRRC Submission

068870-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R9043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55889508-56186266 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 55927189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000032633 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032633] [ENSMUST00000144739] [ENSMUST00000152693] [ENSMUST00000156886]

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

probably benign
Transcript: ENSMUST00000156886

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

99% (87/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	A	8: 88,309,238 (GRCm39)	S134T	possibly damaging	Het
Aadacl4	T	A	4: 144,349,790 (GRCm39)	L349Q	probably damaging	Het
Ankrd29	T	C	18: 12,428,970 (GRCm39)	N33S	probably damaging	Het
Arid3b	T	C	9: 57,699,900 (GRCm39)	S536G	possibly damaging	Het
Art5	A	C	7: 101,748,699 (GRCm39)	M1R	probably null	Het
Arvcf	T	A	16: 18,218,452 (GRCm39)	C545S	probably damaging	Het
Atpsckmt	A	G	15: 31,617,101 (GRCm39)	T189A	probably benign	Het
Axin2	T	A	11: 108,833,794 (GRCm39)	N580K	probably benign	Het
Cdh23	T	G	10: 60,151,478 (GRCm39)	D2469A	probably benign	Het
Cep350	T	A	1: 155,773,228 (GRCm39)	T1781S	probably damaging	Het
Cfap65	T	A	1: 74,943,847 (GRCm39)	T1555S	possibly damaging	Het
Chga	G	A	12: 102,529,054 (GRCm39)	E344K	possibly damaging	Het
Ckap2l	A	T	2: 129,126,892 (GRCm39)	L429M	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cyp2g1	A	G	7: 26,509,256 (GRCm39)	N110S	probably benign	Het
Cyp3a11	T	C	5: 145,805,995 (GRCm39)	D124G	probably benign	Het
Dgkq	A	T	5: 108,801,061 (GRCm39)	V527D	probably damaging	Het
Dnah3	T	C	7: 119,551,272 (GRCm39)	I37V	probably benign	Het
Dnah9	T	A	11: 65,845,680 (GRCm39)	E3068V		Het
Dusp23	T	C	1: 172,460,184 (GRCm39)	E89G	probably null	Het
Fam187a	A	G	11: 102,776,685 (GRCm39)	Y163C	possibly damaging	Het
Gabrg2	T	A	11: 41,865,662 (GRCm39)	I106F	probably damaging	Het
Gpc2	A	G	5: 138,277,193 (GRCm39)	I78T	probably benign	Het
Gpr149	A	C	3: 62,511,360 (GRCm39)	L213R	probably damaging	Het
Grm1	A	T	10: 10,565,056 (GRCm39)	L1084*	probably null	Het
Gypa	A	G	8: 81,222,946 (GRCm39)	T17A	unknown	Het
Gys2	A	T	6: 142,376,059 (GRCm39)	F534L	probably damaging	Het
Iqce	A	T	5: 140,651,810 (GRCm39)	M721K	probably benign	Het
Klrc2	T	A	6: 129,635,741 (GRCm39)	Y129F	probably damaging	Het
Krt14	T	C	11: 100,095,464 (GRCm39)	S314G	possibly damaging	Het
L3mbtl3	T	C	10: 26,156,152 (GRCm39)	Q685R	unknown	Het
Lamb3	A	T	1: 193,007,919 (GRCm39)	K206*	probably null	Het
Lgr5	A	G	10: 115,314,343 (GRCm39)	I198T	probably damaging	Het
Mapk10	A	T	5: 103,074,025 (GRCm39)		probably benign	Het
Mcm6	C	T	1: 128,271,231 (GRCm39)	D463N	probably damaging	Het
Med15	A	T	16: 17,470,582 (GRCm39)	W742R	probably benign	Het
Meis1	T	A	11: 18,831,916 (GRCm39)	Q374L	possibly damaging	Het
Nrxn3	T	C	12: 89,227,252 (GRCm39)	C296R	probably damaging	Het
Ntaq1	A	G	15: 58,014,004 (GRCm39)	Y67C	possibly damaging	Het
Oaf	C	T	9: 43,135,308 (GRCm39)	A157T	probably damaging	Het
Or5b110-ps1	A	T	19: 13,260,074 (GRCm39)	M116K	probably damaging	Het
Or5b12	T	A	19: 12,897,667 (GRCm39)	E2V	probably benign	Het
Or5d36	T	A	2: 87,900,983 (GRCm39)	T248S	possibly damaging	Het
Or9k2b	A	T	10: 130,016,154 (GRCm39)	H198Q	probably benign	Het
Pacs1	A	G	19: 5,188,964 (GRCm39)	I806T	probably benign	Het
Pax2	T	A	19: 44,804,499 (GRCm39)	S257T	probably benign	Het
Pbxip1	A	T	3: 89,350,794 (GRCm39)	T72S	probably benign	Het
Pcdhb14	T	C	18: 37,581,851 (GRCm39)	I319T	probably damaging	Het
Pcdhga2	C	A	18: 37,802,963 (GRCm39)	A269E	possibly damaging	Het
Pdzph1	A	C	17: 59,280,535 (GRCm39)	N582K	probably benign	Het
Plk2	A	T	13: 110,533,194 (GRCm39)	I186F	probably damaging	Het
Pzp	A	T	6: 128,471,742 (GRCm39)	C895S	probably damaging	Het
Rasa2	A	T	9: 96,484,770 (GRCm39)	V148D	probably damaging	Het
Rgsl1	A	T	1: 153,717,567 (GRCm39)	I14N	possibly damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,349,739 (GRCm39)	R3867G		Het
Rpap3	A	G	15: 97,584,443 (GRCm39)	Y334H	possibly damaging	Het
Scara3	A	C	14: 66,169,070 (GRCm39)	N182K	probably damaging	Het
Sh3bp1	A	G	15: 78,791,449 (GRCm39)	E412G	possibly damaging	Het
Sh3tc2	T	A	18: 62,122,961 (GRCm39)	I574N	possibly damaging	Het
Slc16a11	T	C	11: 70,106,520 (GRCm39)	Y253H	probably damaging	Het
Slc38a4	A	T	15: 96,906,805 (GRCm39)	V311E	possibly damaging	Het
Slc4a7	T	C	14: 14,775,048 (GRCm38)	L826P	probably damaging	Het
Spag9	T	G	11: 93,951,085 (GRCm39)	V83G		Het
Sspo	T	G	6: 48,470,214 (GRCm39)	V4560G	probably benign	Het
Stxbp2	T	A	8: 3,684,478 (GRCm39)	F144I		Het
Tafa2	T	C	10: 123,540,294 (GRCm39)	V50A	probably damaging	Het
Tdh	T	C	14: 63,730,278 (GRCm39)	I334V	probably benign	Het
Tesk2	C	A	4: 116,660,148 (GRCm39)	S451Y	probably benign	Het
Tjp1	A	T	7: 64,962,679 (GRCm39)	V1166E	probably benign	Het
Tmeff2	G	A	1: 51,018,779 (GRCm39)	V254M	unknown	Het
Tmem126a	A	G	7: 90,100,749 (GRCm39)		probably null	Het
Togaram2	C	G	17: 71,993,699 (GRCm39)	P2A	probably benign	Het
Trappc14	G	A	5: 138,259,889 (GRCm39)	T389I	possibly damaging	Het
Tssk4	C	T	14: 55,889,211 (GRCm39)	R246W	probably damaging	Het
Tubal3	C	T	13: 3,982,708 (GRCm39)	R163*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vezt	T	C	10: 93,820,027 (GRCm39)	N446S	probably damaging	Het
Vim	A	T	2: 13,579,249 (GRCm39)	T3S	unknown	Het
Vmn2r45	A	G	7: 8,474,904 (GRCm39)	L708P	possibly damaging	Het
Yes1	A	G	5: 32,810,312 (GRCm39)	Y157C	probably damaging	Het
Zfp358	A	G	8: 3,545,810 (GRCm39)	T131A	probably benign	Het
Zfp426	C	T	9: 20,386,308 (GRCm39)	V58M	probably damaging	Het
Zfp692	T	C	11: 58,198,550 (GRCm39)	S47P	probably damaging	Het
Zfp719	A	T	7: 43,239,605 (GRCm39)	T398S	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAACCAAGCAGTGCACTCC -3'
(R):5'- CATTTATGAGGTCATCATTCCAGG -3'

Sequencing Primer
(F):5'- GCACTCCTGCAAGCATCAG -3'
(R):5'- AGGTCATCATTCCAGGGTTATGCC -3'

Posted On

2021-11-19