Incidental Mutation 'R5430:Oca2'
ID 427131
Institutional Source Beutler Lab
Gene Symbol Oca2
Ensembl Gene ENSMUSG00000030450
Gene Name oculocutaneous albinism II
Synonyms p, D7H15S12, D7H15S12
MMRRC Submission 042996-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R5430 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 55889508-56186266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55945208 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 272 (V272A)
Ref Sequence ENSEMBL: ENSMUSP00000119099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032633] [ENSMUST00000144739] [ENSMUST00000152693]
AlphaFold Q62052
Predicted Effect possibly damaging
Transcript: ENSMUST00000032633
AA Change: V272A

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: V272A

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000152693
AA Change: V272A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000119099
Gene: ENSMUSG00000030450
AA Change: V272A

DomainStartEndE-ValueType
transmembrane domain 171 193 N/A INTRINSIC
Meta Mutation Damage Score 0.8109 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 96% (54/56)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001J11Rik T A 9: 39,963,587 (GRCm39) noncoding transcript Het
Acot11 C T 4: 106,617,327 (GRCm39) G240R probably damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Arhgef1 C A 7: 24,611,732 (GRCm39) probably null Het
Brsk1 T C 7: 4,713,435 (GRCm39) F702L probably benign Het
Chrna3 C T 9: 54,920,192 (GRCm39) V470I probably damaging Het
Cpm A G 10: 117,511,986 (GRCm39) Q310R possibly damaging Het
Dennd5a T C 7: 109,533,447 (GRCm39) T108A probably damaging Het
Dvl3 C T 16: 20,342,481 (GRCm39) R145W probably damaging Het
E4f1 G A 17: 24,663,944 (GRCm39) A532V probably damaging Het
Eid1 A G 2: 125,515,550 (GRCm39) T147A probably damaging Het
Eipr1 A T 12: 28,913,015 (GRCm39) N239Y probably damaging Het
Eml5 T C 12: 98,760,417 (GRCm39) I1777M probably damaging Het
Gm11787 A T 4: 3,512,786 (GRCm39) noncoding transcript Het
Gnat2 T C 3: 108,005,716 (GRCm39) L227P probably damaging Het
H2-T15 C T 17: 36,366,967 (GRCm39) V359I probably benign Het
Jag1 T C 2: 136,943,626 (GRCm39) H190R possibly damaging Het
Kdm7a A G 6: 39,126,276 (GRCm39) W570R possibly damaging Het
Lmbrd1 A G 1: 24,732,061 (GRCm39) T93A possibly damaging Het
Lrch4 T C 5: 137,636,795 (GRCm39) S433P possibly damaging Het
Lrp1 G A 10: 127,376,930 (GRCm39) R4216W probably damaging Het
Magohb A G 6: 131,266,381 (GRCm39) Y42H probably damaging Het
Melk A G 4: 44,309,033 (GRCm39) H130R probably damaging Het
Mettl24 G T 10: 40,613,780 (GRCm39) R173L probably benign Het
Mup4 A T 4: 59,960,044 (GRCm39) H73Q probably damaging Het
Mylk2 A T 2: 152,759,468 (GRCm39) E386V probably damaging Het
Nppb C T 4: 148,070,838 (GRCm39) P71L probably benign Het
Or14j6 T A 17: 38,215,304 (GRCm39) I289N probably damaging Het
Or2t6 C T 14: 14,175,692 (GRCm38) R130H probably benign Het
Or4c10 A T 2: 89,760,257 (GRCm39) I35F probably benign Het
Osbpl6 T C 2: 76,416,482 (GRCm39) S628P probably damaging Het
Papola T C 12: 105,775,843 (GRCm39) V253A probably damaging Het
Pex12 T C 11: 83,188,572 (GRCm39) D141G probably damaging Het
Ppm1k A T 6: 57,501,871 (GRCm39) C97* probably null Het
Ptprh T A 7: 4,554,046 (GRCm39) E807V probably damaging Het
Sema3a A T 5: 13,615,730 (GRCm39) T385S probably damaging Het
Sfn T C 4: 133,328,938 (GRCm39) Y48C probably damaging Het
Slc38a8 A G 8: 120,220,959 (GRCm39) I200T probably benign Het
Smarcal1 T C 1: 72,665,776 (GRCm39) V758A probably damaging Het
Stmn4 A G 14: 66,595,463 (GRCm39) M190V possibly damaging Het
Syt3 T G 7: 44,040,337 (GRCm39) L190R possibly damaging Het
Tbl1xr1 T A 3: 22,246,246 (GRCm39) D255E probably benign Het
Ttbk2 C T 2: 120,608,046 (GRCm39) R191H probably damaging Het
Vmn1r238 G T 18: 3,122,521 (GRCm39) L298M possibly damaging Het
Vmn2r45 A C 7: 8,486,333 (GRCm39) Y318* probably null Het
Vsig8 T C 1: 172,387,196 (GRCm39) I24T probably damaging Het
Wdr3 G A 3: 100,064,643 (GRCm39) T166I possibly damaging Het
Zfp354c A G 11: 50,706,022 (GRCm39) I351T probably benign Het
Zfp52 A G 17: 21,775,329 (GRCm39) T8A probably benign Het
Other mutations in Oca2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATCAGTTGGCATTCCTCACC -3'
(R):5'- CCGGTGCCAAGATGTTGTTG -3'

Sequencing Primer
(F):5'- CCACAGGTTCTACATTCAAGGATTAG -3'
(R):5'- GTGCTATCAGACTTCTCCAGAAACTG -3'
Posted On 2016-09-01