Mutagenetix > Incidental Mutation

Incidental Mutation 'R4701:Oca2'

356028

Institutional Source

Beutler Lab

Gene Symbol

Oca2

Ensembl Gene

ENSMUSG00000030450

Gene Name

oculocutaneous albinism II

Synonyms

p, D7H15S12, D7H15S12

MMRRC Submission

041949-MU

Accession Numbers

Essential gene?

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

Stock #

R4701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55889508-56186266 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 55904750 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 72 (T72K)

Ref Sequence

ENSEMBL: ENSMUSP00000119529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032633] [ENSMUST00000144739] [ENSMUST00000152693] [ENSMUST00000155533] [ENSMUST00000156886]

AlphaFold

Q62052

Predicted Effect

probably benign
Transcript: ENSMUST00000032633
AA Change: T72K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: T72K

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
AA Change: T72K

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000152693
AA Change: T72K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119099
Gene: ENSMUSG00000030450
AA Change: T72K

Domain	Start	End	E-Value	Type
transmembrane domain	171	193	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000155533

Predicted Effect

probably benign
Transcript: ENSMUST00000156886
AA Change: T72K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,301,986 (GRCm39)	I196V	probably benign	Het
Aass	T	A	6: 23,075,855 (GRCm39)	K761*	probably null	Het
Abca13	A	G	11: 9,242,306 (GRCm39)	T1390A	possibly damaging	Het
Abhd16a	T	C	17: 35,315,582 (GRCm39)		probably null	Het
Acad11	C	T	9: 103,972,764 (GRCm39)	Q486*	probably null	Het
Actl9	T	C	17: 33,652,909 (GRCm39)	L323P	probably benign	Het
Adam12	T	A	7: 133,518,191 (GRCm39)	I650F	possibly damaging	Het
Adgre4	A	T	17: 56,091,971 (GRCm39)	D77V	probably damaging	Het
Ankrd26	A	G	6: 118,483,446 (GRCm39)	F1586S	possibly damaging	Het
Anpep	T	C	7: 79,489,213 (GRCm39)	T320A	probably benign	Het
Arl15	T	A	13: 114,104,261 (GRCm39)	C133S	probably benign	Het
Ascc3	A	G	10: 50,596,760 (GRCm39)	N1230S	possibly damaging	Het
Atf4	T	A	15: 80,141,618 (GRCm39)	I336K	probably damaging	Het
Atp7b	A	T	8: 22,490,137 (GRCm39)	S1044T	probably benign	Het
Atp8b4	A	G	2: 126,256,213 (GRCm39)	F249L	probably damaging	Het
AU021092	G	T	16: 5,030,057 (GRCm39)	N319K	probably benign	Het
Bbs4	A	G	9: 59,230,802 (GRCm39)	V440A	probably benign	Het
Bpifb4	G	T	2: 153,792,305 (GRCm39)	G450C	probably damaging	Het
Cadm1	G	A	9: 47,730,120 (GRCm39)		probably benign	Het
Ccser2	G	A	14: 36,660,654 (GRCm39)	L500F	probably damaging	Het
Cd22	T	A	7: 30,575,578 (GRCm39)	I155F	probably damaging	Het
Cdkl4	A	T	17: 80,851,081 (GRCm39)	V207E	probably damaging	Het
Cfap251	A	G	5: 123,460,676 (GRCm39)	K1213E	probably benign	Het
Cfap65	T	C	1: 74,958,067 (GRCm39)	D947G	probably damaging	Het
Cntn6	T	C	6: 104,781,321 (GRCm39)	V397A	probably benign	Het
Cpox	T	A	16: 58,498,332 (GRCm39)	Y388*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dda1	T	A	8: 71,926,454 (GRCm39)	Y58N	probably damaging	Het
Dennd4a	C	T	9: 64,804,639 (GRCm39)	T1326I	possibly damaging	Het
Eps8l2	A	T	7: 140,937,173 (GRCm39)	I338F	probably damaging	Het
Fbxo42	A	G	4: 140,927,120 (GRCm39)	T467A	probably benign	Het
Flt4	T	C	11: 49,517,635 (GRCm39)	F319S	possibly damaging	Het
Fmn1	A	T	2: 113,414,416 (GRCm39)	Y895F	possibly damaging	Het
Gm6887	C	A	7: 42,114,517 (GRCm39)		noncoding transcript	Het
Grid2	A	G	6: 64,642,899 (GRCm39)	D887G	probably benign	Het
Grm6	C	T	11: 50,753,837 (GRCm39)	P714S	probably damaging	Het
Gsto2	A	G	19: 47,873,095 (GRCm39)	I157V	probably benign	Het
Il15ra	A	G	2: 11,723,156 (GRCm39)		probably null	Het
Impg1	A	G	9: 80,221,682 (GRCm39)	F713L	probably benign	Het
Jag1	T	A	2: 136,936,376 (GRCm39)	T373S	probably benign	Het
Kcnh3	T	A	15: 99,139,826 (GRCm39)	L904Q	probably benign	Het
Kctd19	C	A	8: 106,117,061 (GRCm39)	G356V	possibly damaging	Het
Kdm5b	T	A	1: 134,533,750 (GRCm39)		probably benign	Het
Kif1a	T	C	1: 93,006,557 (GRCm39)	I37V	probably damaging	Het
Lama5	G	A	2: 179,833,489 (GRCm39)	R1508C	probably damaging	Het
Lamb1	T	A	12: 31,316,847 (GRCm39)	C65*	probably null	Het
Lingo1	A	G	9: 56,527,542 (GRCm39)	F349S	probably damaging	Het
Loxl4	G	A	19: 42,596,052 (GRCm39)	H147Y	probably benign	Het
Lrrn4cl	T	A	19: 8,829,419 (GRCm39)	N132K	probably damaging	Het
Med17	A	T	9: 15,181,656 (GRCm39)	H31Q	probably damaging	Het
Med23	A	T	10: 24,769,546 (GRCm39)	L476F	probably damaging	Het
Mgst1	A	T	6: 138,127,836 (GRCm39)	D66V	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Mroh2a	A	C	1: 88,169,340 (GRCm39)	I672L	probably benign	Het
Muc4	A	T	16: 32,576,220 (GRCm39)		probably benign	Het
Myo18a	C	T	11: 77,708,491 (GRCm39)	T30M	probably damaging	Het
Ncapg2	G	T	12: 116,404,238 (GRCm39)	R903L	probably benign	Het
Nme1	A	G	11: 93,856,734 (GRCm39)	I9T	probably damaging	Het
Nmt2	T	A	2: 3,323,678 (GRCm39)	I357N	probably benign	Het
Nphp4	T	C	4: 152,581,116 (GRCm39)	F100S	probably damaging	Het
Or52e4	A	T	7: 104,706,086 (GRCm39)	D211V	probably damaging	Het
Or52e7	A	T	7: 104,684,798 (GRCm39)	D131V	probably damaging	Het
Or52z15	G	A	7: 103,332,269 (GRCm39)	V105M	probably damaging	Het
Or7h8	T	C	9: 20,123,921 (GRCm39)	I92T	probably damaging	Het
Or9s15	C	A	1: 92,525,160 (GRCm39)	D306E	probably benign	Het
Plce1	A	T	19: 38,713,451 (GRCm39)	T1240S	probably benign	Het
Plch1	A	T	3: 63,606,917 (GRCm39)		probably null	Het
Plxna4	T	C	6: 32,493,623 (GRCm39)	D331G	probably damaging	Het
Ppp1r3a	T	C	6: 14,718,992 (GRCm39)	T641A	probably benign	Het
Rab32	A	G	10: 10,426,598 (GRCm39)	L116P	probably benign	Het
Recql4	C	T	15: 76,592,785 (GRCm39)	C302Y	probably damaging	Het
Rorc	G	C	3: 94,299,017 (GRCm39)	E391Q	probably null	Het
Saa4	A	T	7: 46,381,051 (GRCm39)	F24I	possibly damaging	Het
Sall1	T	A	8: 89,757,788 (GRCm39)	K772M	probably damaging	Het
Sdk1	T	G	5: 142,170,986 (GRCm39)	L1950V	probably damaging	Het
Sil1	T	C	18: 35,399,949 (GRCm39)	E352G	probably benign	Het
Slc26a3	C	T	12: 31,497,773 (GRCm39)	P59L	probably damaging	Het
Smco2	T	C	6: 146,763,440 (GRCm39)		probably benign	Het
Sppl3	A	G	5: 115,241,372 (GRCm39)		probably null	Het
St6gal2	T	A	17: 55,803,345 (GRCm39)	V360D	probably damaging	Het
Stard9	G	A	2: 120,536,194 (GRCm39)	R345Q	possibly damaging	Het
Susd4	T	A	1: 182,719,626 (GRCm39)	Y414N	probably damaging	Het
Tenm4	T	C	7: 96,544,556 (GRCm39)	Y2191H	probably damaging	Het
Tln2	A	G	9: 67,253,809 (GRCm39)	V754A	probably benign	Het
Tmem132c	T	A	5: 127,641,560 (GRCm39)		probably benign	Het
Tnn	A	T	1: 159,975,338 (GRCm39)	S30T	possibly damaging	Het
Trpd52l3	G	T	19: 29,981,895 (GRCm39)	V217F	probably damaging	Het
Trpm1	G	T	7: 63,893,248 (GRCm39)	L1033F	probably damaging	Het
Tulp2	A	G	7: 45,167,348 (GRCm39)	E182G	probably damaging	Het
Ubr4	A	G	4: 139,198,647 (GRCm39)	K4490R	possibly damaging	Het
Usp17la	A	T	7: 104,509,856 (GRCm39)	R154*	probably null	Het
Vmn2r17	T	G	5: 109,575,849 (GRCm39)	M240R	probably damaging	Het
Vmn2r22	T	A	6: 123,627,428 (GRCm39)	N56I	probably benign	Het
Zdhhc21	A	T	4: 82,738,571 (GRCm39)	I206N	possibly damaging	Het
Zfp148	T	A	16: 33,277,278 (GRCm39)	D122E	probably benign	Het
Zfp804a	A	T	2: 82,086,926 (GRCm39)	S252C	probably damaging	Het
Zgrf1	C	T	3: 127,392,353 (GRCm39)	T1291I	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
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
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

Predicted Primers

PCR Primer
(F):5'- GGAAGTAGAGCTACACCAGACATC -3'
(R):5'- ACTTGAAGAAGTACTCAGCAGACAC -3'

Sequencing Primer
(F):5'- TAGAGCTACACCAGACATCTGCTTTG -3'
(R):5'- CACTTTGAGACTCTGTTTAATCTCAG -3'

Posted On

2015-10-21