Incidental Mutation 'R4192:Oca2'
ID 318354
Institutional Source Beutler Lab
Gene Symbol Oca2
Ensembl Gene ENSMUSG00000030450
Gene Name oculocutaneous albinism II
Synonyms p, D7H15S12, D7H15S12
MMRRC Submission 041023-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R4192 (G1)
Quality Score 104
Status Validated
Chromosome 7
Chromosomal Location 55889508-56186266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55946997 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 342 (F342S)
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: F342S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: F342S

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
Meta Mutation Damage Score 0.4061 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.0%
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G T 14: 35,818,536 (GRCm39) R178L possibly damaging Het
Acot4 T C 12: 84,089,948 (GRCm39) probably benign Het
Add3 C A 19: 53,230,955 (GRCm39) D543E probably benign Het
Angpt4 A C 2: 151,785,238 (GRCm39) D418A probably benign Het
Ano8 A T 8: 71,935,936 (GRCm39) V260D probably damaging Het
Cfh C T 1: 140,030,454 (GRCm39) R860H possibly damaging Het
Csmd3 T C 15: 47,710,667 (GRCm39) D1536G probably damaging Het
Dnajb9 A T 12: 44,253,860 (GRCm39) D182E probably benign Het
Epb42 G T 2: 120,860,570 (GRCm39) probably null Het
Fam185a T A 5: 21,630,122 (GRCm39) probably benign Het
Fer1l6 A G 15: 58,518,998 (GRCm39) D1710G probably damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Gm8369 C T 19: 11,479,596 (GRCm39) P9S probably damaging Het
Il17ra A G 6: 120,458,472 (GRCm39) D541G probably damaging Het
Ints4 T G 7: 97,156,940 (GRCm39) H337Q probably damaging Het
Itgam A G 7: 127,663,904 (GRCm39) T44A probably benign Het
Lyst C A 13: 13,915,098 (GRCm39) T3264N probably damaging Het
Macf1 A G 4: 123,366,835 (GRCm39) F1077S possibly damaging Het
Myo3a T A 2: 22,412,188 (GRCm39) F728I probably damaging Het
Nacad T C 11: 6,555,534 (GRCm39) E72G probably benign Het
Nkain3 G A 4: 20,485,003 (GRCm39) Q25* probably null Het
Or10d1c T A 9: 38,894,313 (GRCm39) Q9L probably benign Het
Osbpl6 T A 2: 76,415,573 (GRCm39) L499Q probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Peak1 A T 9: 56,166,025 (GRCm39) N634K probably damaging Het
Pitpnm3 T C 11: 71,942,785 (GRCm39) K818R possibly damaging Het
Rab3gap1 T A 1: 127,853,207 (GRCm39) probably benign Het
Rcc1l T C 5: 134,184,648 (GRCm39) T385A probably benign Het
Rrm2 T C 12: 24,758,377 (GRCm39) I11T probably benign Het
Scnn1b A G 7: 121,501,962 (GRCm39) T207A possibly damaging Het
Spata31f3 A T 4: 42,874,185 (GRCm39) probably benign Het
Syt12 T A 19: 4,497,709 (GRCm39) probably benign Het
Tmprss6 A T 15: 78,330,857 (GRCm39) probably null Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Ube2q2l T C 6: 136,378,435 (GRCm39) T132A probably benign Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn1r27 A C 6: 58,192,812 (GRCm39) I14R 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
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
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'- CTGACCAACCTCAAGGGATTTG -3'
(R):5'- TCACGAAGCTTTTCTGGTCC -3'

Sequencing Primer
(F):5'- CCTCAAGGGATTTGATTTATTTTGC -3'
(R):5'- TTTTTGTCAGTGCCCATGATTCAG -3'
Posted On 2015-06-10