Incidental Mutation 'R1067:Oca2'
ID 86048
Institutional Source Beutler Lab
Gene Symbol Oca2
Ensembl Gene ENSMUSG00000030450
Gene Name oculocutaneous albinism II
Synonyms p, D7H15S12, D7H15S12
MMRRC Submission 039153-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R1067 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 55889508-56186266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55966141 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 378 (I378V)
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: I378V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: I378V

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
Meta Mutation Damage Score 0.0931 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 94.7%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 A G 18: 61,957,018 (GRCm39) probably benign Het
Adam24 T A 8: 41,133,793 (GRCm39) C420* probably null Het
Atp12a G A 14: 56,610,893 (GRCm39) G346S probably damaging Het
Bpifa3 A T 2: 153,979,529 (GRCm39) Q218L probably damaging Het
Cntrl T C 2: 35,039,034 (GRCm39) probably benign Het
Defb41 A G 1: 18,335,248 (GRCm39) probably null Het
Edc4 C A 8: 106,617,637 (GRCm39) T1094K probably damaging Het
Exoc4 T A 6: 33,895,359 (GRCm39) I792N possibly damaging Het
G3bp2 A T 5: 92,211,187 (GRCm39) probably benign Het
Herc6 T A 6: 57,639,204 (GRCm39) N888K probably damaging Het
Iqgap1 G A 7: 80,373,576 (GRCm39) T1471M probably benign Het
Kpna6 G T 4: 129,541,896 (GRCm39) H500Q probably benign Het
Krt78 G A 15: 101,854,896 (GRCm39) Q972* probably null Het
Krtap9-5 T A 11: 99,839,589 (GRCm39) C97S unknown Het
Mapk10 T A 5: 103,139,723 (GRCm39) probably benign Het
Mybphl A G 3: 108,272,319 (GRCm39) T3A probably benign Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Or7a39 T A 10: 78,715,517 (GRCm39) C170* probably null Het
Pax6 C A 2: 105,510,646 (GRCm39) Q2K probably benign Het
Plxna2 C A 1: 194,462,818 (GRCm39) probably null Het
Ppp1r13b A G 12: 111,801,550 (GRCm39) L378P probably damaging Het
Prkdc G A 16: 15,570,646 (GRCm39) E2310K probably damaging Het
Pth2r G A 1: 65,411,507 (GRCm39) G348E possibly damaging Het
Rarb T C 14: 16,436,769 (GRCm38) I251V probably damaging Het
Rasa2 A G 9: 96,434,376 (GRCm39) L637P probably damaging Het
Sucla2 C T 14: 73,798,074 (GRCm39) probably benign Het
Syt1 A T 10: 108,472,523 (GRCm39) D120E probably benign Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Tmbim1 A G 1: 74,329,905 (GRCm39) probably benign Het
Tnfrsf25 G A 4: 152,202,745 (GRCm39) C191Y probably damaging Het
Tnn T C 1: 159,952,968 (GRCm39) K691E probably damaging Het
Trim7 T A 11: 48,728,646 (GRCm39) V98E probably damaging Het
Tspan3 A G 9: 56,068,104 (GRCm39) F15L probably benign Het
Uap1l1 A G 2: 25,252,759 (GRCm39) L427S probably damaging Het
Upf1 A C 8: 70,791,053 (GRCm39) M574R probably damaging Het
Ush2a T A 1: 188,282,404 (GRCm39) V1931E probably benign Het
Zfp3 T C 11: 70,663,411 (GRCm39) S457P probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- ACCAGCAGTCCAGGCAATAATTCTTC -3'
(R):5'- GTCTTTAGTTAACAAACCAGCACCAGC -3'

Sequencing Primer
(F):5'- CAGGCAATAATTCTTCCTGGAGC -3'
(R):5'- TCCCTGAGAAAATAACTAGACCTG -3'
Posted On 2013-11-18