Incidental Mutation 'R1173:Tyrp1'
ID99664
Institutional Source Beutler Lab
Gene Symbol Tyrp1
Ensembl Gene ENSMUSG00000005994
Gene Nametyrosinase-related protein 1
SynonymsTyrp, isa, Oca3, TRP1, TRP-1
MMRRC Submission 039246-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.223) question?
Stock #R1173 (G1)
Quality Score225
Status Validated
Chromosome4
Chromosomal Location80834123-80851719 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to T at 80844868 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 331 (Q331*)
Ref Sequence ENSEMBL: ENSMUSP00000099895 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006151] [ENSMUST00000102831] [ENSMUST00000133932]
Predicted Effect probably null
Transcript: ENSMUST00000006151
AA Change: Q331*
SMART Domains Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: Q331*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Tyrosinase 182 417 1.7e-37 PFAM
transmembrane domain 479 501 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000102831
AA Change: Q331*
SMART Domains Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: Q331*

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Tyrosinase 182 417 4.9e-38 PFAM
transmembrane domain 479 501 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000133932
SMART Domains Protein: ENSMUSP00000119167
Gene: ENSMUSG00000005994

DomainStartEndE-ValueType
Pfam:Tyrosinase 1 51 1e-12 PFAM
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 87.9%
Validation Efficiency 99% (72/73)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a melanosomal enzyme that belongs to the tyrosinase family and plays an important role in the melanin biosynthetic pathway. Defects in this gene are the cause of rufous oculocutaneous albinism and oculocutaneous albinism type III. [provided by RefSeq, Mar 2009]
PHENOTYPE: The major influence of mutations at this locus is to change eumelanin from a black to a brown pigment in the coat and eyes in varying degrees. Semidominant mutants result in melanocyte degeneration causing reduced pigmentation and progressive hearing loss. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T A 6: 50,589,141 K118M probably damaging Het
Accsl A T 2: 93,866,244 probably benign Het
Adam30 G A 3: 98,162,906 S685N probably benign Het
Adamts12 T C 15: 11,071,757 V129A probably benign Het
Agxt2 T C 15: 10,373,751 F81S probably damaging Het
Ahnak2 A T 12: 112,785,789 I186N probably damaging Het
Amz1 A T 5: 140,751,936 probably null Het
Anapc5 G A 5: 122,788,418 A619V possibly damaging Het
Bbox1 T C 2: 110,265,611 D336G probably damaging Het
Bivm A G 1: 44,126,782 T131A probably benign Het
Bpi A T 2: 158,267,740 I203F probably benign Het
Cd151 A C 7: 141,470,656 T241P probably damaging Het
Cdh23 G A 10: 60,312,392 probably benign Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Cul9 C G 17: 46,522,175 A1326P probably damaging Het
Dclre1b A C 3: 103,803,876 S240A probably benign Het
Ddc A C 11: 11,846,634 probably null Het
Dkk1 T C 19: 30,547,250 R252G probably damaging Het
Dmrtc2 T A 7: 24,874,313 M191K possibly damaging Het
Eml6 A G 11: 29,749,824 S1771P possibly damaging Het
Emx1 T C 6: 85,188,371 probably benign Het
Fah T C 7: 84,601,136 M1V probably null Het
Fmo6 A T 1: 162,926,141 M144K probably damaging Het
Frem1 A G 4: 82,950,352 V1445A probably benign Het
Fsd2 T C 7: 81,559,770 D108G probably benign Het
Gfm2 A G 13: 97,165,200 probably null Het
Ghrhr T A 6: 55,388,269 L416* probably null Het
Glipr1l2 C A 10: 112,083,466 L31I possibly damaging Het
Gm19965 T A 1: 116,820,820 probably benign Het
Gpr149 A G 3: 62,604,467 L37P probably damaging Het
Hoxa9 A G 6: 52,225,713 I131T probably damaging Het
Htra4 T C 8: 25,030,619 D342G possibly damaging Het
Idh1 G T 1: 65,161,160 N348K probably benign Het
Impdh2 T C 9: 108,561,829 F99S probably benign Het
Kank4 T C 4: 98,765,569 Y874C probably damaging Het
Kazn A T 4: 142,159,038 probably benign Het
Kcnq3 T A 15: 66,000,042 T593S probably benign Het
Lamc1 T C 1: 153,247,231 probably benign Het
Magi3 A G 3: 104,061,630 probably null Het
Map3k19 A G 1: 127,823,880 V578A probably benign Het
Meox2 T C 12: 37,109,152 C108R possibly damaging Het
Nlrp9c C A 7: 26,380,435 C722F probably damaging Het
Olfr448 T C 6: 42,897,351 V300A probably benign Het
Pde10a C T 17: 8,920,546 probably benign Het
Ppfia4 A G 1: 134,332,283 probably benign Het
Psg18 T C 7: 18,354,817 M1V probably null Het
Qtrt1 A G 9: 21,412,486 T136A probably benign Het
Retsat T C 6: 72,603,651 probably benign Het
Rxfp2 T C 5: 150,051,556 V210A probably benign Het
Sfswap G A 5: 129,507,143 probably null Het
Slc16a7 A T 10: 125,231,372 L133I possibly damaging Het
Slc30a3 A T 5: 31,086,810 M376K probably damaging Het
Srbd1 C T 17: 86,098,512 C620Y probably null Het
Svs1 C A 6: 48,990,239 P707H probably damaging Het
Trip10 T A 17: 57,253,363 L100Q probably damaging Het
Vangl2 G T 1: 172,004,786 T501N probably damaging Het
Vdr A T 15: 97,869,333 Y185N probably benign Het
Vmn1r123 C T 7: 21,162,332 P50S probably damaging Het
Vmn1r158 T A 7: 22,790,445 H113L probably benign Het
Vmn2r12 A T 5: 109,092,854 I131N probably benign Het
Vmn2r72 T A 7: 85,751,944 E89V probably damaging Het
Xrcc6 A G 15: 82,031,163 D94G probably damaging Het
Zbtb32 T A 7: 30,591,267 E201V possibly damaging Het
Zfp185 A T X: 72,999,323 E138D possibly damaging Het
Zmynd11 T A 13: 9,689,549 H437L probably damaging Het
Other mutations in Tyrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Tyrp1 APN 4 80840765 missense possibly damaging 0.95
IGL01586:Tyrp1 APN 4 80844898 missense probably benign 0.00
IGL01620:Tyrp1 APN 4 80844802 nonsense probably null
IGL02126:Tyrp1 APN 4 80837608 nonsense probably null
IGL02174:Tyrp1 APN 4 80844826 nonsense probably null
IGL02601:Tyrp1 APN 4 80840775 missense probably null 0.00
IGL02630:Tyrp1 APN 4 80840757 missense possibly damaging 0.95
butter UTSW 4 80840806 critical splice donor site probably null
ca-los UTSW 4 80844868 nonsense probably null
chi UTSW 4 80840778 missense probably damaging 1.00
R0011:Tyrp1 UTSW 4 80840793 missense probably damaging 1.00
R0011:Tyrp1 UTSW 4 80840793 missense probably damaging 1.00
R0145:Tyrp1 UTSW 4 80840778 missense probably damaging 1.00
R1172:Tyrp1 UTSW 4 80844868 nonsense probably null
R1175:Tyrp1 UTSW 4 80844868 nonsense probably null
R1886:Tyrp1 UTSW 4 80840806 critical splice donor site probably null
R2099:Tyrp1 UTSW 4 80835379 missense possibly damaging 0.69
R2273:Tyrp1 UTSW 4 80837534 missense probably damaging 0.99
R2274:Tyrp1 UTSW 4 80837534 missense probably damaging 0.99
R2275:Tyrp1 UTSW 4 80837534 missense probably damaging 0.99
R2312:Tyrp1 UTSW 4 80837564 nonsense probably null
R2427:Tyrp1 UTSW 4 80850871 missense probably benign 0.00
R2440:Tyrp1 UTSW 4 80846606 missense probably benign 0.41
R2915:Tyrp1 UTSW 4 80837455 missense possibly damaging 0.46
R4343:Tyrp1 UTSW 4 80849841 missense possibly damaging 0.92
R4512:Tyrp1 UTSW 4 80837512 missense probably damaging 1.00
R4703:Tyrp1 UTSW 4 80840806 critical splice donor site probably null
R4732:Tyrp1 UTSW 4 80844935 missense possibly damaging 0.67
R4733:Tyrp1 UTSW 4 80844935 missense possibly damaging 0.67
R4788:Tyrp1 UTSW 4 80844943 nonsense probably null
R4834:Tyrp1 UTSW 4 80846596 nonsense probably null
R4911:Tyrp1 UTSW 4 80850907 utr 3 prime probably benign
R4938:Tyrp1 UTSW 4 80840646 missense probably damaging 1.00
R5129:Tyrp1 UTSW 4 80846607 missense probably damaging 1.00
R5154:Tyrp1 UTSW 4 80850717 missense probably benign 0.00
R6249:Tyrp1 UTSW 4 80850772 missense possibly damaging 0.93
R6492:Tyrp1 UTSW 4 80840781 missense probably null 1.00
R6617:Tyrp1 UTSW 4 80846747 missense probably benign 0.24
R6870:Tyrp1 UTSW 4 80850777 missense probably benign 0.37
R6990:Tyrp1 UTSW 4 80835437 missense probably damaging 1.00
R7275:Tyrp1 UTSW 4 80837584 missense possibly damaging 0.78
R7684:Tyrp1 UTSW 4 80840625 missense probably damaging 1.00
R7980:Tyrp1 UTSW 4 80840627 missense probably damaging 1.00
R8001:Tyrp1 UTSW 4 80840670 missense probably benign 0.10
R8051:Tyrp1 UTSW 4 80837660 missense probably damaging 1.00
R8233:Tyrp1 UTSW 4 80850953 missense unknown
R8326:Tyrp1 UTSW 4 80850684 missense probably benign 0.06
Z1176:Tyrp1 UTSW 4 80844889 nonsense probably null
Z1177:Tyrp1 UTSW 4 80849817 missense probably benign
Predicted Primers
Posted On2014-01-15