Incidental Mutation 'IGL02157:Oca2'
ID 282290
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Oca2
Ensembl Gene ENSMUSG00000030450
Gene Name oculocutaneous albinism II
Synonyms p, D7H15S12, D7H15S12
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # IGL02157
Quality Score
Status
Chromosome 7
Chromosomal Location 55889508-56186266 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 55974545 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000032633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032633] [ENSMUST00000144739] [ENSMUST00000152693]
AlphaFold Q62052
Predicted Effect probably null
Transcript: ENSMUST00000032633
SMART Domains Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450

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 benign
Transcript: ENSMUST00000152693
SMART Domains Protein: ENSMUSP00000119099
Gene: ENSMUSG00000030450

DomainStartEndE-ValueType
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b T C 5: 8,855,487 (GRCm39) probably benign Het
Amotl1 A T 9: 14,483,011 (GRCm39) probably benign Het
Amph A T 13: 19,288,401 (GRCm39) T297S possibly damaging Het
Arhgap31 A G 16: 38,444,263 (GRCm39) V198A probably damaging Het
Bop1 T C 15: 76,339,772 (GRCm39) D216G possibly damaging Het
Cdh13 T C 8: 119,232,410 (GRCm39) I38T possibly damaging Het
Clmn T C 12: 104,748,177 (GRCm39) T457A probably benign Het
Clstn2 A C 9: 97,423,928 (GRCm39) M279R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Fam83h A T 15: 75,876,904 (GRCm39) V208E probably damaging Het
Fer A G 17: 64,445,894 (GRCm39) N785S probably benign Het
Fnip1 T C 11: 54,378,589 (GRCm39) L225P probably damaging Het
Gbp11 C T 5: 105,475,374 (GRCm39) V325M possibly damaging Het
Glis1 A G 4: 107,484,758 (GRCm39) T418A probably benign Het
Hook2 C T 8: 85,727,779 (GRCm39) probably benign Het
Hoxa6 C A 6: 52,185,171 (GRCm39) C145F possibly damaging Het
Lyst G A 13: 13,835,541 (GRCm39) C1741Y probably benign Het
Mbd5 T C 2: 49,168,987 (GRCm39) V1156A probably benign Het
Mon2 G A 10: 122,849,377 (GRCm39) P1308S probably damaging Het
Mta2 T A 19: 8,924,613 (GRCm39) probably benign Het
Nup188 T A 2: 30,219,385 (GRCm39) L867* probably null Het
Or13a22 T A 7: 140,072,847 (GRCm39) C99S probably damaging Het
Or6c88 A G 10: 129,407,019 (GRCm39) E165G probably damaging Het
Or7e166 T A 9: 19,624,585 (GRCm39) V154E probably benign Het
Plekhh2 A G 17: 84,874,370 (GRCm39) probably benign Het
Pramel22 A T 4: 143,380,947 (GRCm39) C359S probably damaging Het
Rhbdd3 T C 11: 5,055,424 (GRCm39) probably benign Het
Timeless T A 10: 128,078,255 (GRCm39) V255E probably benign Het
Tmt1b T G 10: 128,796,486 (GRCm39) T108P possibly damaging Het
Trh A T 6: 92,219,948 (GRCm39) S123T probably benign Het
Ugdh C T 5: 65,580,035 (GRCm39) A252T probably damaging Het
Zfp619 A G 7: 39,184,288 (GRCm39) Y106C probably damaging Het
Zic5 G A 14: 122,696,924 (GRCm39) P564S unknown 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
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
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
Posted On 2015-04-16