Incidental Mutation 'R0322:Tyr'
ID 25617
Institutional Source Beutler Lab
Gene Symbol Tyr
Ensembl Gene ENSMUSG00000004651
Gene Name tyrosinase
Synonyms skc35, Oca1
MMRRC Submission 038532-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.194) question?
Stock # R0322 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 87073979-87142637 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 87142125 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 145 (I145N)
Ref Sequence ENSEMBL: ENSMUSP00000004770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004770] [ENSMUST00000207834]
AlphaFold P11344
Predicted Effect probably benign
Transcript: ENSMUST00000004770
AA Change: I145N

PolyPhen 2 Score 0.347 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000004770
Gene: ENSMUSG00000004651
AA Change: I145N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207164
Predicted Effect probably benign
Transcript: ENSMUST00000207834
Meta Mutation Damage Score 0.1364 question?
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.8%
  • 20x: 84.3%
Validation Efficiency 98% (58/59)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,888,768 (GRCm39) S275T possibly damaging Het
Adam34 G T 8: 44,104,958 (GRCm39) T229N probably benign Het
Adgrb3 C A 1: 25,260,829 (GRCm39) probably benign Het
Ankhd1 T A 18: 36,791,061 (GRCm39) Y2478* probably null Het
Arl9 A G 5: 77,155,037 (GRCm39) probably benign Het
Bub1b G A 2: 118,470,099 (GRCm39) probably benign Het
Chl1 A T 6: 103,678,844 (GRCm39) probably benign Het
Cobl T A 11: 12,217,072 (GRCm39) E465V probably damaging Het
Cobll1 A T 2: 64,932,442 (GRCm39) M520K possibly damaging Het
Dll3 A G 7: 27,995,793 (GRCm39) V336A possibly damaging Het
Dnmbp T C 19: 43,843,285 (GRCm39) H1193R probably damaging Het
Fbxo43 T C 15: 36,152,338 (GRCm39) probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gjc3 A T 5: 137,955,760 (GRCm39) M175K possibly damaging Het
Gpc5 T A 14: 115,636,563 (GRCm39) N415K probably benign Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Il7r A T 15: 9,510,301 (GRCm39) F251I probably benign Het
Insc A G 7: 114,391,500 (GRCm39) E141G probably damaging Het
Itm2c C T 1: 85,834,751 (GRCm39) T160M probably damaging Het
Mboat1 T C 13: 30,416,063 (GRCm39) probably benign Het
Mdm2 G T 10: 117,538,109 (GRCm39) H96Q possibly damaging Het
Mettl13 A G 1: 162,371,745 (GRCm39) probably benign Het
Mfsd4b3-ps T C 10: 39,823,526 (GRCm39) N245D probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Mymk A T 2: 26,957,418 (GRCm39) L66Q probably damaging Het
Myo18a T C 11: 77,720,626 (GRCm39) S767P probably damaging Het
Ndufa8 T C 2: 35,926,634 (GRCm39) D134G probably benign Het
Noxa1 A G 2: 24,982,566 (GRCm39) F83S probably damaging Het
Npc1l1 T A 11: 6,179,042 (GRCm39) I123L probably benign Het
Ogdhl A G 14: 32,059,534 (GRCm39) T394A probably benign Het
Or4s2b T C 2: 88,509,011 (GRCm39) S264P probably damaging Het
Or5ae1 A G 7: 84,565,521 (GRCm39) Y178C probably damaging Het
Pcdh20 T C 14: 88,706,383 (GRCm39) T306A probably benign Het
Pcid2 G A 8: 13,140,775 (GRCm39) probably benign Het
Phyhip G A 14: 70,700,836 (GRCm39) V108M possibly damaging Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Psmb4 A G 3: 94,793,402 (GRCm39) Y160H probably benign Het
Riox2 A T 16: 59,309,752 (GRCm39) K369* probably null Het
Rnf26rt T C 6: 76,473,401 (GRCm39) Y405C probably benign Het
Sh3tc1 G A 5: 35,863,905 (GRCm39) P761S possibly damaging Het
Slc6a3 T A 13: 73,709,045 (GRCm39) V323D possibly damaging Het
Smg7 A G 1: 152,725,624 (GRCm39) probably null Het
Srrt G A 5: 137,294,870 (GRCm39) R370C probably damaging Het
Stc1 T C 14: 69,266,858 (GRCm39) V7A probably benign Het
Svep1 G T 4: 58,057,996 (GRCm39) probably benign Het
Tbpl2 A G 2: 23,984,991 (GRCm39) V51A probably benign Het
Tecr A G 8: 84,298,872 (GRCm39) Y248H probably damaging Het
Tenm3 A G 8: 48,689,947 (GRCm39) probably benign Het
Tia1 C T 6: 86,397,369 (GRCm39) A114V probably damaging Het
Tmprss11f A T 5: 86,739,275 (GRCm39) M2K probably benign Het
Tnfsf8 T C 4: 63,752,403 (GRCm39) T221A probably damaging Het
Tubgcp5 G A 7: 55,464,726 (GRCm39) G536S probably damaging Het
Ubr4 T A 4: 139,149,729 (GRCm39) V1809E probably damaging Het
Vmn2r65 A T 7: 84,595,756 (GRCm39) N309K probably benign 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
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
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'- AGTCTGTGCCAAGGCAGAAACC -3'
(R):5'- TCTGGACCTCAGTTCCCCTTCAAAG -3'

Sequencing Primer
(F):5'- CTGGTGCTTCATGGGCAAAATC -3'
(R):5'- TATAATAGGACCTGCCAGTGCTC -3'
Posted On 2013-04-16