Mutagenetix > Incidental Mutation

Incidental Mutation 'R1457:Oca2'

158569

Institutional Source

Beutler Lab

Gene Symbol

Oca2

Ensembl Gene

ENSMUSG00000030450

Gene Name

oculocutaneous albinism II

Synonyms

D7H15S12, p, D7H15S12

MMRRC Submission

039512-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R1457 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56239760-56536518 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 56321521 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 399 (T399S)

Ref Sequence

ENSEMBL: ENSMUSP00000032633 (fasta)

Gene Model

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

AlphaFold

Q62052

Predicted Effect

probably damaging
Transcript: ENSMUST00000032633
AA Change: T399S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: T399S

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

1x: 98.9%
3x: 97.8%
10x: 94.7%
20x: 87.3%

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	A	T	1: 37,626,012 (GRCm38)	Y268*	probably null	Het
Abca14	A	T	7: 120,289,460 (GRCm38)	I1210F	probably benign	Het
Ankrd17	T	C	5: 90,285,846 (GRCm38)	H688R	possibly damaging	Het
Arhgap24	T	A	5: 102,664,106 (GRCm38)	N66K	probably damaging	Het
Atp1a1	C	T	3: 101,590,466 (GRCm38)	G335D	probably damaging	Het
Cacna1g	C	T	11: 94,459,555 (GRCm38)	R488H	possibly damaging	Het
Cacna1h	A	T	17: 25,397,620 (GRCm38)	V149E	probably damaging	Het
Cd22	G	T	7: 30,873,170 (GRCm38)	P338Q	probably benign	Het
Cntln	G	T	4: 85,096,839 (GRCm38)	M1122I	probably benign	Het
Cntrl	A	G	2: 35,122,756 (GRCm38)	N302S	probably benign	Het
Cog8	T	C	8: 107,052,896 (GRCm38)	R250G	probably damaging	Het
Creld2	T	C	15: 88,823,753 (GRCm38)	C232R	probably damaging	Het
Cyp2b23	G	A	7: 26,673,149 (GRCm38)	P347L	probably damaging	Het
Dnah5	T	C	15: 28,403,542 (GRCm38)		probably null	Het
Eml6	C	T	11: 30,024,459 (GRCm38)	V40I	probably damaging	Het
Epb42	C	T	2: 121,029,967 (GRCm38)		probably null	Het
Fcrla	A	G	1: 170,921,004 (GRCm38)	L190P	probably damaging	Het
Galnt18	A	T	7: 111,779,428 (GRCm38)	Y40*	probably null	Het
Gdf7	A	T	12: 8,298,073 (GRCm38)	M416K	probably damaging	Het
Gm11232	T	A	4: 71,756,919 (GRCm38)		probably null	Het
Gpam	T	A	19: 55,088,176 (GRCm38)	N198Y	probably damaging	Het
Grip1	C	T	10: 119,986,350 (GRCm38)	S327F	possibly damaging	Het
Hey2	C	T	10: 30,834,356 (GRCm38)	A134T	probably benign	Het
Kat6a	T	C	8: 22,938,652 (GRCm38)	I1341T	probably benign	Het
Kcnd3	T	C	3: 105,668,186 (GRCm38)	L542P	probably benign	Het
Lars	G	A	18: 42,210,050 (GRCm38)	R1101C	probably damaging	Het
Lman2	T	C	13: 55,351,251 (GRCm38)	D234G	probably benign	Het
Map3k19	A	C	1: 127,817,898 (GRCm38)	I1273R	probably damaging	Het
Matn1	T	A	4: 130,950,019 (GRCm38)	F180I	possibly damaging	Het
Meikin	T	A	11: 54,370,941 (GRCm38)	L61*	probably null	Het
Mroh2b	G	T	15: 4,925,684 (GRCm38)	D720Y	probably damaging	Het
Myh13	T	C	11: 67,331,046 (GRCm38)	I199T	probably damaging	Het
Myh4	T	A	11: 67,248,461 (GRCm38)	S535T	probably damaging	Het
Myo5a	T	C	9: 75,213,065 (GRCm38)	M1715T	probably damaging	Het
Nat8	A	T	6: 85,830,989 (GRCm38)	V54D	probably damaging	Het
Nbea	A	G	3: 56,085,327 (GRCm38)	V286A	probably damaging	Het
Ndnf	A	G	6: 65,704,014 (GRCm38)	K426E	possibly damaging	Het
Nup210l	T	A	3: 90,190,972 (GRCm38)	N1410K	possibly damaging	Het
Olfr1045	A	G	2: 86,198,252 (GRCm38)	S167P	probably damaging	Het
Olfr118	A	T	17: 37,672,925 (GRCm38)	K301*	probably null	Het
Olfr250	G	A	9: 38,368,196 (GRCm38)	V217I	probably benign	Het
Olfr366	A	C	2: 37,219,659 (GRCm38)	T57P	possibly damaging	Het
Olfr644	A	T	7: 104,068,459 (GRCm38)	C191S	probably damaging	Het
Olfr652	T	A	7: 104,565,071 (GRCm38)	N283K	probably damaging	Het
Otogl	A	C	10: 107,878,152 (GRCm38)		probably null	Het
Pde4b	C	T	4: 102,605,176 (GRCm38)	T511I	probably damaging	Het
Proser3	A	G	7: 30,539,747 (GRCm38)		probably null	Het
Psmd12	G	A	11: 107,479,646 (GRCm38)	V24M	probably damaging	Het
Rbm17	A	T	2: 11,593,461 (GRCm38)	M170K	probably benign	Het
Rims2	C	T	15: 39,511,314 (GRCm38)	T1064I	possibly damaging	Het
Ripor3	C	T	2: 167,992,653 (GRCm38)	V281M	probably damaging	Het
Rreb1	C	A	13: 37,946,928 (GRCm38)	Q1353K	possibly damaging	Het
Sgo2a	A	G	1: 58,015,806 (GRCm38)	D383G	probably benign	Het
Sik3	C	T	9: 46,221,148 (GRCm38)	T1346M	probably damaging	Het
Slx1b	A	T	7: 126,692,796 (GRCm38)	V63E	probably damaging	Het
Son	A	G	16: 91,657,086 (GRCm38)	D907G	probably damaging	Het
Src	G	A	2: 157,469,212 (GRCm38)	V401M	probably damaging	Het
St3gal4	T	C	9: 35,054,757 (GRCm38)	K24E	possibly damaging	Het
Stat6	A	G	10: 127,658,245 (GRCm38)	K647R	probably damaging	Het
Tbl1xr1	G	A	3: 22,193,169 (GRCm38)		probably null	Het
Tlk2	G	A	11: 105,256,952 (GRCm38)		probably null	Het
Tmbim6	T	A	15: 99,401,615 (GRCm38)	I3K	probably benign	Het
Tmeff2	A	T	1: 51,181,867 (GRCm38)	I334F	probably damaging	Het
Ttn	T	C	2: 76,840,315 (GRCm38)		probably null	Het
Ubl7	T	A	9: 57,914,611 (GRCm38)	I81N	probably damaging	Het
Ugt1a10	A	G	1: 88,055,711 (GRCm38)	Y77C	probably damaging	Het
Uqcrfs1	A	G	13: 30,540,907 (GRCm38)	C217R	probably damaging	Het
Usp50	T	C	2: 126,761,634 (GRCm38)	T331A	probably benign	Het
Vmn1r65	A	G	7: 6,009,157 (GRCm38)	V26A	probably benign	Het
Wdfy3	A	C	5: 101,917,579 (GRCm38)	V1241G	possibly damaging	Het
Wtap	A	C	17: 12,981,744 (GRCm38)		probably null	Het
Zbtb40	C	A	4: 136,984,837 (GRCm38)	A1187S	possibly damaging	Het
Zfp57	T	C	17: 37,006,098 (GRCm38)	S20P	probably damaging	Het
Zfp592	A	G	7: 81,024,479 (GRCm38)	D397G	probably damaging	Het
Zfp747	A	T	7: 127,374,504 (GRCm38)	S165T	probably benign	Het
Zfp949	C	T	9: 88,569,838 (GRCm38)	T487I	probably damaging	Het
Zscan4d	A	G	7: 11,164,994 (GRCm38)	C119R	probably damaging	Het

Other mutations in Oca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:Oca2	APN	7	56,280,846 (GRCm38)	missense	probably damaging	0.99
IGL01022:Oca2	APN	7	56,324,756 (GRCm38)	missense	probably damaging	1.00
IGL01666:Oca2	APN	7	56,314,811 (GRCm38)	splice site	probably null
IGL02157:Oca2	APN	7	56,324,797 (GRCm38)	splice site	probably null
IGL02213:Oca2	APN	7	56,321,484 (GRCm38)	splice site	probably benign
IGL02314:Oca2	APN	7	56,357,151 (GRCm38)	missense	probably benign	0.00
IGL03083:Oca2	APN	7	56,295,484 (GRCm38)	missense	probably benign	0.28
IGL03356:Oca2	APN	7	56,535,968 (GRCm38)	missense	probably benign	0.01
charbon	UTSW	7	56,316,405 (GRCm38)	missense	probably damaging	1.00
cotton	UTSW	7	56,535,968 (GRCm38)	missense	probably benign	0.00
cutworm	UTSW	7	56,316,420 (GRCm38)	missense	probably damaging	1.00
Dirk	UTSW	7	56,535,968 (GRCm38)	missense	probably benign	0.00
draco1	UTSW	7	56,423,352 (GRCm38)	missense	probably benign	0.00
faded	UTSW	7	56,324,661 (GRCm38)	missense	probably benign	0.19
hardy	UTSW	7	56,295,460 (GRCm38)	missense	probably damaging	1.00
narwhal	UTSW	7	56,295,498 (GRCm38)	nonsense	probably null
quicksilver	UTSW	7	56,324,661 (GRCm38)	missense	probably benign	0.19
renesmee	UTSW	7	56,535,968 (GRCm38)	missense	probably benign	0.00
slush	UTSW	7	56,277,441 (GRCm38)	critical splice donor site	probably null
snowflake	UTSW	7	56,324,680 (GRCm38)	missense	probably damaging	1.00
whitemouse	UTSW	7	56,414,431 (GRCm38)	missense	probably damaging	1.00
R0440:Oca2	UTSW	7	56,423,352 (GRCm38)	missense	probably benign	0.00
R1067:Oca2	UTSW	7	56,316,393 (GRCm38)	missense	probably damaging	1.00
R1349:Oca2	UTSW	7	56,535,968 (GRCm38)	missense	probably benign	0.00
R1372:Oca2	UTSW	7	56,535,968 (GRCm38)	missense	probably benign	0.00
R1737:Oca2	UTSW	7	56,328,785 (GRCm38)	missense	probably damaging	1.00
R1802:Oca2	UTSW	7	56,254,980 (GRCm38)	missense	possibly damaging	0.96
R1957:Oca2	UTSW	7	56,321,498 (GRCm38)	missense	possibly damaging	0.82
R1966:Oca2	UTSW	7	56,414,467 (GRCm38)	missense	probably damaging	0.99
R2082:Oca2	UTSW	7	56,297,137 (GRCm38)	missense	probably benign	0.01
R2229:Oca2	UTSW	7	56,357,155 (GRCm38)	missense	probably benign	0.11
R4120:Oca2	UTSW	7	56,254,882 (GRCm38)	missense	probably damaging	1.00
R4192:Oca2	UTSW	7	56,297,249 (GRCm38)	missense	probably damaging	1.00
R4405:Oca2	UTSW	7	56,414,434 (GRCm38)	missense	possibly damaging	0.63
R4654:Oca2	UTSW	7	56,328,812 (GRCm38)	missense	probably benign	0.44
R4701:Oca2	UTSW	7	56,255,002 (GRCm38)	missense	probably benign	0.00
R4887:Oca2	UTSW	7	56,330,358 (GRCm38)	nonsense	probably null
R5053:Oca2	UTSW	7	56,323,580 (GRCm38)	missense	probably benign	0.02
R5215:Oca2	UTSW	7	56,295,498 (GRCm38)	nonsense	probably null
R5430:Oca2	UTSW	7	56,295,460 (GRCm38)	missense	probably damaging	1.00
R5677:Oca2	UTSW	7	56,414,462 (GRCm38)	missense	probably damaging	1.00
R6416:Oca2	UTSW	7	56,328,767 (GRCm38)	missense	probably benign	0.44
R6645:Oca2	UTSW	7	56,314,774 (GRCm38)	missense	probably benign	0.21
R7257:Oca2	UTSW	7	56,279,538 (GRCm38)	intron	probably benign
R7409:Oca2	UTSW	7	56,414,397 (GRCm38)	missense	probably benign	0.00
R7530:Oca2	UTSW	7	56,331,972 (GRCm38)	missense	probably damaging	0.99
R7820:Oca2	UTSW	7	56,331,965 (GRCm38)	missense	probably damaging	1.00
R9043:Oca2	UTSW	7	56,277,441 (GRCm38)	critical splice donor site	probably null
R9153:Oca2	UTSW	7	56,293,838 (GRCm38)	missense	probably benign	0.00
R9205:Oca2	UTSW	7	56,316,420 (GRCm38)	missense	probably damaging	1.00
R9681:Oca2	UTSW	7	56,293,875 (GRCm38)	missense	probably null	1.00
Z1088:Oca2	UTSW	7	56,330,375 (GRCm38)	missense	probably null	0.83

Predicted Primers

PCR Primer
(F):5'- TGAAGAGCCAGATATCCATCCAGCC -3'
(R):5'- GCTTAGCACAGCAATTATCGCCAG -3'

Sequencing Primer
(F):5'- AGCCAGAGCTGCTCTTGATG -3'
(R):5'- AGCAATTATCGCCAGGCTTC -3'

Posted On

2014-03-14