Incidental Mutation 'R4206:Tyr'
ID 318914
Institutional Source Beutler Lab
Gene Symbol Tyr
Ensembl Gene ENSMUSG00000004651
Gene Name tyrosinase
Synonyms skc35, Oca1
MMRRC Submission 041035-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R4206 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 87073979-87142637 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87078276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 528 (L528P)
Ref Sequence ENSEMBL: ENSMUSP00000004770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004770]
AlphaFold P11344
Predicted Effect possibly damaging
Transcript: ENSMUST00000004770
AA Change: L528P

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000004770
Gene: ENSMUSG00000004651
AA Change: L528P

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 91 112 N/A INTRINSIC
Pfam:Tyrosinase 170 403 4.8e-45 PFAM
transmembrane domain 474 496 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The enzyme encoded by this gene catalyzes the first 2 steps, and at least 1 subsequent step, in the conversion of tyrosine to melanin. The enzyme has both tyrosine hydroxylase and dopa oxidase catalytic activities, and requires copper for function. Mutations in this gene result in oculocutaneous albinism, and nonpathologic polymorphisms result in skin pigmentation variation. The human genome contains a pseudogene similar to the 3' half of this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Numerous mutations at this locus result in albinism or hypopigmentation. Albinism is associated with reduced number of optic nerve fibers and mutants can have impaired vision. Some alleles are lethal. [provided by MGI curators]
Allele List at MGI

All alleles(120) : Targeted(2) Spontaneous(28) Chemically induced(16) Radiation induced(78

Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik T C 2: 151,315,435 (GRCm39) K81R probably benign Het
Acacb T C 5: 114,351,712 (GRCm39) F1150L probably benign Het
Acat3 A G 17: 13,146,273 (GRCm39) Y237H possibly damaging Het
Arfgap3 T C 15: 83,206,869 (GRCm39) T240A probably benign Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Cabin1 T C 10: 75,590,675 (GRCm39) S23G possibly damaging Het
Cemip2 G T 19: 21,819,479 (GRCm39) R1090L probably damaging Het
Clasp1 A G 1: 118,506,636 (GRCm39) N949S probably damaging Het
Csrp1 T G 1: 135,673,065 (GRCm39) C61G probably damaging Het
Dgka A T 10: 128,557,064 (GRCm39) L637Q probably damaging Het
Dst G A 1: 34,251,328 (GRCm39) R1801H probably damaging Het
Edil3 T C 13: 89,328,397 (GRCm39) S284P probably damaging Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Ell2 A G 13: 75,910,067 (GRCm39) D139G probably damaging Het
Fam187a A G 11: 102,777,038 (GRCm39) R281G probably damaging Het
Gin1 A G 1: 97,720,145 (GRCm39) D380G possibly damaging Het
Gpr149 T G 3: 62,511,924 (GRCm39) D25A possibly damaging Het
Gyg1 A G 3: 20,206,901 (GRCm39) S90P probably benign Het
Hpx C T 7: 105,244,354 (GRCm39) M190I probably null Het
Irf2bpl C T 12: 86,929,810 (GRCm39) V288I probably benign Het
Lyst A G 13: 13,810,574 (GRCm39) H748R probably benign Het
Mmrn1 G A 6: 60,935,164 (GRCm39) G220D probably damaging Het
Mpdz A T 4: 81,299,999 (GRCm39) M333K probably benign Het
Muc5ac C T 7: 141,370,847 (GRCm39) S2556F possibly damaging Het
Nfix CAAAAA CAAAA 8: 85,442,876 (GRCm39) probably null Het
Ntsr1 A G 2: 180,142,545 (GRCm39) D112G probably damaging Het
Or56b1 T A 7: 104,285,356 (GRCm39) N158K possibly damaging Het
Or7a42 T C 10: 78,791,117 (GRCm39) F26S probably benign Het
Or9s14 A C 1: 92,536,317 (GRCm39) T253P possibly damaging Het
Parg A G 14: 31,976,493 (GRCm39) K178R probably benign Het
Pde8b C A 13: 95,359,053 (GRCm39) C90F probably benign Het
Pld1 G A 3: 28,174,932 (GRCm39) V857I probably benign Het
Rad54l2 A C 9: 106,594,994 (GRCm39) V321G probably damaging Het
Rcn2 A G 9: 55,952,491 (GRCm39) Y112C possibly damaging Het
Rnf123 A T 9: 107,941,162 (GRCm39) D639E probably benign Het
Rufy2 C T 10: 62,840,551 (GRCm39) Q441* probably null Het
Scgb2b12 T C 7: 32,026,063 (GRCm39) Y43C probably damaging Het
Scrn3 T A 2: 73,149,845 (GRCm39) probably null Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc22a8 T C 19: 8,585,597 (GRCm39) S321P probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tex2 A G 11: 106,458,398 (GRCm39) probably benign Het
Trip13 A G 13: 74,081,009 (GRCm39) I119T probably benign Het
Tsku C T 7: 98,002,205 (GRCm39) R42H probably damaging Het
Ttn A G 2: 76,602,911 (GRCm39) I16691T possibly damaging Het
Ubxn2b T C 4: 6,204,565 (GRCm39) V142A probably damaging Het
Uggt2 C T 14: 119,286,674 (GRCm39) D221N probably damaging Het
Wnt4 A G 4: 137,023,654 (GRCm39) K207R possibly damaging Het
Zfp608 T C 18: 55,121,267 (GRCm39) R107G probably damaging Het
Other mutations in Tyr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01568:Tyr APN 7 87,087,156 (GRCm39) missense probably damaging 1.00
IGL01594:Tyr APN 7 87,133,022 (GRCm39) splice site probably benign
IGL02963:Tyr APN 7 87,133,205 (GRCm39) missense probably benign
IGL03356:Tyr APN 7 87,141,922 (GRCm39) missense possibly damaging 0.71
ghost UTSW 7 87,121,703 (GRCm39) missense probably damaging 1.00
pale UTSW 7 87,087,175 (GRCm39) missense probably damaging 1.00
pale_rider UTSW 7 87,087,231 (GRCm39) missense probably damaging 1.00
rufus UTSW 7 87,141,914 (GRCm39) missense probably damaging 1.00
shocked UTSW 7 87,142,330 (GRCm39) missense probably damaging 1.00
siamese UTSW 7 87,087,252 (GRCm39) missense probably damaging 0.99
Venusaur UTSW 7 87,141,914 (GRCm39) missense probably damaging 1.00
waffle UTSW 7 87,142,429 (GRCm39) missense possibly damaging 0.94
R0322:Tyr UTSW 7 87,142,125 (GRCm39) missense probably benign 0.35
R0479:Tyr UTSW 7 87,142,429 (GRCm39) missense possibly damaging 0.94
R1544:Tyr UTSW 7 87,141,914 (GRCm39) missense probably damaging 1.00
R1546:Tyr UTSW 7 87,087,200 (GRCm39) missense probably benign 0.02
R1606:Tyr UTSW 7 87,087,179 (GRCm39) missense probably benign 0.01
R1666:Tyr UTSW 7 87,142,149 (GRCm39) missense probably damaging 1.00
R2064:Tyr UTSW 7 87,142,051 (GRCm39) missense probably benign 0.13
R2213:Tyr UTSW 7 87,142,086 (GRCm39) missense probably damaging 1.00
R2420:Tyr UTSW 7 87,078,397 (GRCm39) missense probably benign 0.17
R4013:Tyr UTSW 7 87,087,148 (GRCm39) missense probably benign 0.00
R4014:Tyr UTSW 7 87,087,148 (GRCm39) missense probably benign 0.00
R4015:Tyr UTSW 7 87,087,148 (GRCm39) missense probably benign 0.00
R4016:Tyr UTSW 7 87,087,148 (GRCm39) missense probably benign 0.00
R4202:Tyr UTSW 7 87,078,276 (GRCm39) missense possibly damaging 0.92
R4205:Tyr UTSW 7 87,078,276 (GRCm39) missense possibly damaging 0.92
R4361:Tyr UTSW 7 87,078,284 (GRCm39) missense probably benign 0.01
R4738:Tyr UTSW 7 87,141,855 (GRCm39) missense probably null 1.00
R5306:Tyr UTSW 7 87,087,222 (GRCm39) missense probably damaging 1.00
R5378:Tyr UTSW 7 87,121,703 (GRCm39) missense probably damaging 1.00
R5395:Tyr UTSW 7 87,121,698 (GRCm39) missense probably damaging 0.98
R5782:Tyr UTSW 7 87,142,224 (GRCm39) missense probably damaging 1.00
R7007:Tyr UTSW 7 87,142,548 (GRCm39) missense probably benign 0.04
R7609:Tyr UTSW 7 87,133,092 (GRCm39) missense probably benign 0.06
R7767:Tyr UTSW 7 87,142,218 (GRCm39) missense probably benign 0.37
R7794:Tyr UTSW 7 87,133,028 (GRCm39) critical splice donor site probably null
R8158:Tyr UTSW 7 87,121,724 (GRCm39) missense probably damaging 0.99
R8383:Tyr UTSW 7 87,133,200 (GRCm39) missense probably damaging 1.00
R8403:Tyr UTSW 7 87,087,175 (GRCm39) missense probably damaging 1.00
R8544:Tyr UTSW 7 87,142,000 (GRCm39) missense probably benign 0.05
R8822:Tyr UTSW 7 87,142,330 (GRCm39) missense probably damaging 1.00
R8837:Tyr UTSW 7 87,087,223 (GRCm39) missense probably damaging 1.00
R9492:Tyr UTSW 7 87,121,705 (GRCm39) missense possibly damaging 0.63
R9492:Tyr UTSW 7 87,121,704 (GRCm39) missense probably damaging 1.00
R9748:Tyr UTSW 7 87,142,072 (GRCm39) missense possibly damaging 0.89
Predicted Primers PCR Primer
(F):5'- CCAGTCATTTCTTAGAAACTAGGAC -3'
(R):5'- CTGGTGATATCTGTGAAAACAGCTTG -3'

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