Incidental Mutation 'IGL00509:Oca2'
ID 5237
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 # IGL00509
Quality Score
Status
Chromosome 7
Chromosomal Location 55889508-56186266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 55930594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 137 (G137D)
Ref Sequence ENSEMBL: ENSMUSP00000119099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032633] [ENSMUST00000144739] [ENSMUST00000152693] [ENSMUST00000156886]
AlphaFold Q62052
Predicted Effect possibly damaging
Transcript: ENSMUST00000032633
AA Change: G137D

PolyPhen 2 Score 0.693 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: G137D

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: G137D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119099
Gene: ENSMUSG00000030450
AA Change: G137D

DomainStartEndE-ValueType
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156886
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik T C 5: 99,391,102 (GRCm39) probably null Het
Abr A G 11: 76,313,915 (GRCm39) L514P probably damaging Het
Ahnak T A 19: 8,987,315 (GRCm39) D2866E possibly damaging Het
Bfsp1 T A 2: 143,673,812 (GRCm39) T293S probably damaging Het
Ccr1 C T 9: 123,764,090 (GRCm39) V147I probably benign Het
Cd84 T C 1: 171,679,704 (GRCm39) probably null Het
Cep192 T C 18: 67,991,939 (GRCm39) V1939A possibly damaging Het
Chrnb4 A T 9: 54,943,878 (GRCm39) L80Q probably damaging Het
Ckmt2 A T 13: 92,011,382 (GRCm39) L76H probably damaging Het
Cntnap2 C T 6: 45,992,197 (GRCm39) P375S possibly damaging Het
Cped1 A T 6: 22,215,522 (GRCm39) L685F probably damaging Het
Dab2ip T C 2: 35,610,025 (GRCm39) S682P probably damaging Het
Dclk1 A T 3: 55,154,707 (GRCm39) T46S probably damaging Het
Eif2d T A 1: 131,094,089 (GRCm39) C427S probably benign Het
Fat4 T A 3: 38,943,188 (GRCm39) Y694N probably damaging Het
Gm15217 T C 14: 46,620,768 (GRCm39) probably benign Het
Gpr35 T C 1: 92,910,594 (GRCm39) I102T probably damaging Het
Grk4 T A 5: 34,873,634 (GRCm39) N233K probably damaging Het
Hdac3 T C 18: 38,087,938 (GRCm39) D10G possibly damaging Het
Hexb G A 13: 97,318,437 (GRCm39) T308M probably damaging Het
Inpp5j C A 11: 3,451,595 (GRCm39) D436Y possibly damaging Het
Kif18a A G 2: 109,148,333 (GRCm39) E609G possibly damaging Het
Kif24 T C 4: 41,413,826 (GRCm39) probably null Het
Lrp4 G A 2: 91,316,519 (GRCm39) probably benign Het
Mat2b T C 11: 40,575,554 (GRCm39) K161E possibly damaging Het
Nek2 T G 1: 191,559,490 (GRCm39) probably benign Het
Numa1 A G 7: 101,662,493 (GRCm39) T1965A possibly damaging Het
Pdcl2 T A 5: 76,472,959 (GRCm39) D3V probably damaging Het
Ranbp17 T C 11: 33,443,402 (GRCm39) N91S probably benign Het
Siglech A T 7: 55,418,635 (GRCm39) D146V possibly damaging Het
Slc4a3 C T 1: 75,531,727 (GRCm39) T898M probably damaging Het
Sp3 A G 2: 72,768,406 (GRCm39) probably benign Het
Tln1 C T 4: 43,542,719 (GRCm39) V1396I probably benign Het
Ugt2a3 T A 5: 87,473,514 (GRCm39) M468L probably damaging Het
Other mutations in Oca2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20