Incidental Mutation 'R7257:Oca2'
ID 574691
Institutional Source Beutler Lab
Gene Symbol Oca2
Ensembl Gene ENSMUSG00000030450
Gene Name oculocutaneous albinism II
Synonyms p, D7H15S12, D7H15S12
MMRRC Submission 045318-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R7257 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 55889508-56186266 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 55929286 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000121798 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032633] [ENSMUST00000144739] [ENSMUST00000152693] [ENSMUST00000156886]
AlphaFold Q62052
Predicted Effect probably benign
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 unknown
Transcript: ENSMUST00000144739
AA Change: M117I
Predicted Effect probably benign
Transcript: ENSMUST00000152693
SMART Domains Protein: ENSMUSP00000119099
Gene: ENSMUSG00000030450

DomainStartEndE-ValueType
transmembrane domain 171 193 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000156886
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (77/77)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abtb1 A T 6: 88,816,434 (GRCm39) V120E probably benign Het
Acot11 G A 4: 106,615,599 (GRCm39) T284M probably damaging Het
Adk G T 14: 21,102,739 (GRCm39) K11N probably damaging Het
Akr1c14 T A 13: 4,138,966 (GRCm39) N316K probably benign Het
AL732309.1 A T 2: 25,135,851 (GRCm39) V121D probably benign Het
Amh C A 10: 80,642,487 (GRCm39) Q257K probably benign Het
Antxrl T G 14: 33,787,806 (GRCm39) H276Q probably benign Het
Atp5po G A 16: 91,723,755 (GRCm39) T105M probably damaging Het
Atxn2 T G 5: 121,923,880 (GRCm39) N734K possibly damaging Het
B3gat3 T A 19: 8,903,102 (GRCm39) V153D probably benign Het
Brd2 A G 17: 34,332,796 (GRCm39) V528A probably damaging Het
Camk2g T C 14: 20,797,907 (GRCm39) S335G probably benign Het
Cbln2 T A 18: 86,734,859 (GRCm39) W211R probably damaging Het
Cry2 A T 2: 92,243,326 (GRCm39) I505N possibly damaging Het
Ddx55 T A 5: 124,698,784 (GRCm39) C249S possibly damaging Het
Dglucy A G 12: 100,808,997 (GRCm39) T232A probably damaging Het
Dhx32 A G 7: 133,361,206 (GRCm39) Y76H probably benign Het
Dmac2l T C 12: 69,788,443 (GRCm39) I114T probably damaging Het
Dock7 T A 4: 98,861,649 (GRCm39) N1356I unknown Het
Dock8 T A 19: 25,104,449 (GRCm39) N710K probably benign Het
Dync1i2 T A 2: 71,079,700 (GRCm39) N391K possibly damaging Het
Ect2 A G 3: 27,192,684 (GRCm39) S420P probably damaging Het
Efcab5 T A 11: 77,028,605 (GRCm39) E242V probably damaging Het
Fam83g T A 11: 61,575,579 (GRCm39) Y74N probably damaging Het
Fbxo34 T A 14: 47,738,329 (GRCm39) probably null Het
Flt4 A G 11: 49,516,836 (GRCm39) T208A probably benign Het
Fxyd5 T A 7: 30,734,576 (GRCm39) H183L unknown Het
Gpr150 T G 13: 76,204,585 (GRCm39) D120A probably benign Het
Grm7 A G 6: 110,623,079 (GRCm39) Y84C probably damaging Het
Ighmbp2 A G 19: 3,316,405 (GRCm39) S562P probably damaging Het
Itga7 A G 10: 128,780,282 (GRCm39) Y530C possibly damaging Het
Itpr3 T A 17: 27,337,535 (GRCm39) D2448E probably benign Het
Mmp17 C A 5: 129,672,697 (GRCm39) H216Q probably benign Het
Mns1 C T 9: 72,360,097 (GRCm39) R416W probably damaging Het
Mog A G 17: 37,334,019 (GRCm39) S25P unknown Het
Myh2 A G 11: 67,071,976 (GRCm39) K568R possibly damaging Het
Myh7 A T 14: 55,209,947 (GRCm39) probably null Het
Mymk A T 2: 26,957,380 (GRCm39) W79R probably damaging Het
Ncoa4 T G 14: 31,899,326 (GRCm39) L623R probably damaging Het
Odam A C 5: 88,035,404 (GRCm39) S123R probably benign Het
Or14c39 T A 7: 86,344,012 (GRCm39) M116K probably damaging Het
Or2w1 A G 13: 21,317,427 (GRCm39) T161A probably benign Het
Or51f1d T C 7: 102,700,837 (GRCm39) F111L probably benign Het
Or5d16 A G 2: 87,773,915 (GRCm39) F19S probably damaging Het
Or6c69 T A 10: 129,748,156 (GRCm39) probably benign Het
Or6c8b C T 10: 128,882,324 (GRCm39) V203M probably benign Het
Ovch2 C T 7: 107,393,640 (GRCm39) C162Y probably damaging Het
Padi1 C A 4: 140,556,782 (GRCm39) G142C probably damaging Het
Pcdhga4 A G 18: 37,820,451 (GRCm39) I667V probably damaging Het
Pfas A T 11: 68,883,785 (GRCm39) V624E probably damaging Het
Phb1 A T 11: 95,568,917 (GRCm39) E184V probably damaging Het
Phlpp2 G T 8: 110,666,820 (GRCm39) M1116I probably benign Het
Pip5kl1 T C 2: 32,470,443 (GRCm39) probably null Het
Pitpnm2 T A 5: 124,263,419 (GRCm39) I824F possibly damaging Het
Pla2g4c G A 7: 13,059,669 (GRCm39) S2N possibly damaging Het
Pla2r1 A T 2: 60,257,969 (GRCm39) probably null Het
Pole2 T C 12: 69,249,684 (GRCm39) D521G probably damaging Het
Ptch1 T C 13: 63,721,108 (GRCm39) K54E not run Het
Rapgef2 A T 3: 78,989,934 (GRCm39) L931Q probably damaging Het
Rassf3 G A 10: 121,248,924 (GRCm39) Q206* probably null Het
Rnf123 T A 9: 107,946,228 (GRCm39) T316S probably damaging Het
Rnf138 T A 18: 21,141,750 (GRCm39) probably null Het
Septin3 G A 15: 82,173,414 (GRCm39) A249T probably damaging Het
Slc35a4 A T 18: 36,812,669 (GRCm39) D3V unknown Het
Sltm T A 9: 70,451,247 (GRCm39) probably null Het
Smarca2 C T 19: 26,631,864 (GRCm39) Q560* probably null Het
Tcl1b1 A T 12: 105,130,790 (GRCm39) D91V probably damaging Het
Tirap A T 9: 35,100,330 (GRCm39) V118E probably damaging Het
Tlr5 T A 1: 182,801,798 (GRCm39) Y367* probably null Het
Tmcc1 A G 6: 116,084,299 (GRCm39) F5L probably benign Het
Tnxb A G 17: 34,935,475 (GRCm39) M2592V probably benign Het
Trim66 T A 7: 109,059,451 (GRCm39) E931V probably damaging Het
Ttn A G 2: 76,571,438 (GRCm39) I26485T probably damaging Het
Veph1 C A 3: 66,065,703 (GRCm39) V455L probably benign Het
Vmn1r125 A T 7: 21,006,750 (GRCm39) H216L probably damaging Het
Wdr17 T A 8: 55,085,522 (GRCm39) E1200D probably benign Het
Zbtb37 T A 1: 160,860,231 (GRCm39) N25Y 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
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
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'- GCATAGAATCAATGTGTGAAAGCC -3'
(R):5'- TGTTGCTGTCTACACTGTGTAC -3'

Sequencing Primer
(F):5'- TCAATGTGTGAAAGCCCAAAG -3'
(R):5'- GCTGTCTACACTGTGTACAGCAG -3'
Posted On 2019-10-03