Incidental Mutation 'IGL01022:Oca2'
ID 53703
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 # IGL01022
Quality Score
Status
Chromosome 7
Chromosomal Location 55889508-56186266 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55974504 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 484 (N484K)
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: N484K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032633
Gene: ENSMUSG00000030450
AA Change: N484K

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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts14 A G 10: 61,038,721 (GRCm39) S927P probably benign Het
Arfgef1 G T 1: 10,244,301 (GRCm39) F987L probably damaging Het
Asph A T 4: 9,601,344 (GRCm39) N191K possibly damaging Het
Bmpr1b A T 3: 141,577,099 (GRCm39) C71S probably damaging Het
Bod1l A T 5: 41,951,652 (GRCm39) S2920T probably damaging Het
Camta2 G A 11: 70,562,308 (GRCm39) R1030* probably null Het
Chd8 T C 14: 52,474,450 (GRCm39) T194A probably benign Het
Col9a3 A T 2: 180,258,227 (GRCm39) I549F probably damaging Het
Fstl4 A G 11: 53,077,568 (GRCm39) N775S probably benign Het
Gm10800 T A 2: 98,497,576 (GRCm39) probably benign Het
Gm5117 T A 8: 32,228,515 (GRCm39) noncoding transcript Het
Hap1 A G 11: 100,240,374 (GRCm39) L112P probably benign Het
Hcls1 C A 16: 36,771,488 (GRCm39) probably benign Het
Kmt2c A G 5: 25,507,699 (GRCm39) probably benign Het
Lct T A 1: 128,228,596 (GRCm39) I966L probably benign Het
Myo1h A T 5: 114,474,361 (GRCm39) I451F possibly damaging Het
Notch4 G A 17: 34,784,671 (GRCm39) C128Y probably damaging Het
Or51f1e T G 7: 102,747,077 (GRCm39) L43R probably damaging Het
Or7a42 A T 10: 78,791,188 (GRCm39) I50F possibly damaging Het
Rprd2 T A 3: 95,671,066 (GRCm39) R1362* probably null Het
Sema3a C T 5: 13,523,433 (GRCm39) T134I probably damaging Het
Sfta2 C T 17: 35,961,336 (GRCm39) T74I possibly damaging Het
Slfn10-ps C T 11: 82,926,353 (GRCm39) noncoding transcript Het
Spag11a A T 8: 19,208,005 (GRCm39) Q15H probably damaging Het
Tbc1d22a G A 15: 86,185,756 (GRCm39) D282N probably damaging Het
Tmbim6 G A 15: 99,300,003 (GRCm39) V40M possibly damaging Het
Tmem259 A G 10: 79,819,808 (GRCm39) V22A probably damaging Het
Tnik T C 3: 28,679,377 (GRCm39) probably null Het
Unc13c T C 9: 73,424,610 (GRCm39) D2002G probably benign Het
Other mutations in Oca2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Oca2 APN 7 55,930,594 (GRCm39) missense probably damaging 0.99
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 2013-06-28