Incidental Mutation 'R4016:Tyr'
ID 311940
Institutional Source Beutler Lab
Gene Symbol Tyr
Ensembl Gene ENSMUSG00000004651
Gene Name tyrosinase
Synonyms skc35, Oca1
MMRRC Submission 040847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R4016 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 87073979-87142637 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87087148 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 455 (S455P)
Ref Sequence ENSEMBL: ENSMUSP00000004770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004770]
AlphaFold P11344
Predicted Effect probably benign
Transcript: ENSMUST00000004770
AA Change: S455P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000004770
Gene: ENSMUSG00000004651
AA Change: S455P

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 0.0593 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.4%
Validation Efficiency 100% (49/49)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh8a1 G A 10: 21,271,470 (GRCm39) V399I probably benign Het
Apold1 A G 6: 134,960,869 (GRCm39) I108V probably benign Het
Arpc5 G A 1: 152,644,607 (GRCm39) probably benign Het
Capn11 T A 17: 45,964,682 (GRCm39) D45V probably damaging Het
Dctpp1 G A 7: 126,856,285 (GRCm39) R146C probably damaging Het
Dlat C T 9: 50,560,931 (GRCm39) probably null Het
Dock10 T A 1: 80,584,286 (GRCm39) D140V probably damaging Het
Dtx3 A G 10: 127,027,040 (GRCm39) V378A probably benign Het
Ezh2 A G 6: 47,521,516 (GRCm39) I414T probably benign Het
Gm1979 C T 5: 26,209,604 (GRCm39) W41* probably null Het
Igf2bp2 T C 16: 21,882,426 (GRCm39) N425S probably damaging Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Map3k21 T A 8: 126,637,924 (GRCm39) I170N probably damaging Het
Mrgpra6 C A 7: 46,838,463 (GRCm39) C245F possibly damaging Het
Nipal2 T G 15: 34,600,207 (GRCm39) K203N possibly damaging Het
Nlrp1b A G 11: 71,063,911 (GRCm39) F621S probably damaging Het
Nos3 G A 5: 24,576,714 (GRCm39) V448M probably damaging Het
Ntrk3 G T 7: 78,112,695 (GRCm39) probably benign Het
Or5b118 A T 19: 13,448,561 (GRCm39) T76S possibly damaging Het
P2rx1 T C 11: 72,900,799 (GRCm39) C190R probably damaging Het
Pdzrn4 T A 15: 92,297,630 (GRCm39) D198E probably benign Het
Ptar1 A G 19: 23,664,824 (GRCm39) M1V probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Purg T A 8: 33,877,019 (GRCm39) L219* probably null Het
Rbp3 G T 14: 33,677,347 (GRCm39) V432L possibly damaging Het
Scnn1b G T 7: 121,513,555 (GRCm39) probably null Het
Sgms1 A G 19: 32,120,192 (GRCm39) V238A possibly damaging Het
Slc16a14 G T 1: 84,890,228 (GRCm39) S359* probably null Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Spatc1l A G 10: 76,398,323 (GRCm39) S42G probably benign Het
Stra6 T A 9: 58,042,473 (GRCm39) V34E probably damaging Het
Tex14 A G 11: 87,429,449 (GRCm39) probably null Het
Tox4 T C 14: 52,523,361 (GRCm39) probably null Het
Uggt2 T C 14: 119,263,845 (GRCm39) N1062D possibly damaging Het
Umod A C 7: 119,075,913 (GRCm39) N284K possibly damaging Het
Unc93b1 T C 19: 3,993,572 (GRCm39) I338T probably damaging Het
Vmn2r99 C T 17: 19,598,832 (GRCm39) T172I possibly damaging Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null 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
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
R4206: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'- GGTTCAAAAGCTTCCCAATCC -3'
(R):5'- TGAACAATGGCTGCGAAGGC -3'

Sequencing Primer
(F):5'- TCAAAAGCTTCCCAATCCTATATTC -3'
(R):5'- GCACCGCCCTCTTTTGGAAG -3'
Posted On 2015-04-29