Incidental Mutation 'R4512:Tyrp1'
ID 331255
Institutional Source Beutler Lab
Gene Symbol Tyrp1
Ensembl Gene ENSMUSG00000005994
Gene Name tyrosinase-related protein 1
Synonyms Oca3, isa, TRP-1, Tyrp, TRP1
MMRRC Submission 041587-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R4512 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 80752360-80769956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 80755749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Tyrosine at position 173 (D173Y)
Ref Sequence ENSEMBL: ENSMUSP00000117080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006151] [ENSMUST00000102831] [ENSMUST00000133655]
AlphaFold P07147
Predicted Effect probably damaging
Transcript: ENSMUST00000006151
AA Change: D173Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: D173Y

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 damaging
Transcript: ENSMUST00000102831
AA Change: D173Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: D173Y

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 damaging
Transcript: ENSMUST00000133655
AA Change: D173Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117080
Gene: ENSMUSG00000005994
AA Change: D173Y

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Tyrosinase 182 229 1.1e-7 PFAM
Meta Mutation Damage Score 0.1442 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 99% (67/68)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,978,573 (GRCm39) D573V probably damaging Het
Adgrg5 T C 8: 95,660,652 (GRCm39) V93A possibly damaging Het
Akr1c20 A C 13: 4,557,843 (GRCm39) V201G probably damaging Het
Alpk1 T C 3: 127,478,120 (GRCm39) probably benign Het
Aopep A T 13: 63,304,481 (GRCm39) T497S probably damaging Het
Atp6v1h T C 1: 5,168,358 (GRCm39) probably null Het
Aup1 C T 6: 83,033,368 (GRCm39) R248* probably null Het
BC016579 C A 16: 45,453,363 (GRCm39) A151S possibly damaging Het
Cenpn A G 8: 117,660,135 (GRCm39) Y68C probably damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Chsy3 A G 18: 59,543,259 (GRCm39) D799G probably damaging Het
Dnah6 G A 6: 73,155,399 (GRCm39) R739W probably damaging Het
Dync2h1 A T 9: 7,085,009 (GRCm39) C553* probably null Het
Fhl4 A G 10: 84,934,578 (GRCm39) S68P possibly damaging Het
Gcc1 T C 6: 28,419,208 (GRCm39) E375G probably benign Het
Gm10110 A G 14: 90,135,151 (GRCm39) noncoding transcript Het
Hspbap1 C T 16: 35,607,611 (GRCm39) S39F probably damaging Het
Lmln G A 16: 32,908,507 (GRCm39) R311Q probably benign Het
Ly6e T A 15: 74,829,682 (GRCm39) V24D probably damaging Het
Magi3 T C 3: 103,996,871 (GRCm39) T225A probably damaging Het
Mark1 C A 1: 184,639,286 (GRCm39) R577L probably benign Het
Mlxip G T 5: 123,533,128 (GRCm39) V46L probably benign Het
Mrpl40 T C 16: 18,691,308 (GRCm39) D134G probably benign Het
Naip6 C T 13: 100,437,108 (GRCm39) A472T probably benign Het
Nalcn T C 14: 123,532,860 (GRCm39) Y1300C probably damaging Het
Nav3 T C 10: 109,529,943 (GRCm39) I2133V possibly damaging Het
Ndst3 T C 3: 123,465,315 (GRCm39) D219G probably damaging Het
Nfkbie C T 17: 45,867,165 (GRCm39) S100L probably benign Het
Oard1 A G 17: 48,723,788 (GRCm39) I145V probably benign Het
Odf2 C T 2: 29,816,109 (GRCm39) probably null Het
Oplah A G 15: 76,182,155 (GRCm39) L1035P probably damaging Het
Or4n4b C A 14: 50,536,453 (GRCm39) L104F probably damaging Het
Or51t4 T C 7: 102,597,945 (GRCm39) L81P probably damaging Het
Or5m3b T C 2: 85,871,913 (GRCm39) S85P probably damaging Het
Otud7a T C 7: 63,379,625 (GRCm39) F284L probably benign Het
Parg T C 14: 31,984,693 (GRCm39) V241A probably damaging Het
Pla2g4a T A 1: 149,736,802 (GRCm39) probably null Het
Psd4 C T 2: 24,292,901 (GRCm39) R684C probably damaging Het
Pttg1ip T C 10: 77,432,902 (GRCm39) probably benign Het
R3hcc1 A G 14: 69,936,060 (GRCm39) S250P probably damaging Het
Rere T A 4: 150,561,909 (GRCm39) Y272N unknown Het
Selplg A G 5: 113,957,124 (GRCm39) V394A probably benign Het
Senp7 T G 16: 55,986,246 (GRCm39) F559V probably damaging Het
Slc16a7 T G 10: 125,069,308 (GRCm39) probably null Het
Smim3 A T 18: 60,608,556 (GRCm39) V32D probably damaging Het
Spsb3 A G 17: 25,109,270 (GRCm39) D47G probably damaging Het
St6gal2 A T 17: 55,790,018 (GRCm39) N351Y probably benign Het
Stk11 T C 10: 79,962,211 (GRCm39) probably benign Het
Susd1 A T 4: 59,329,491 (GRCm39) L646Q possibly damaging Het
Tmprss11a A G 5: 86,576,437 (GRCm39) V138A probably benign Het
Ttn C A 2: 76,728,969 (GRCm39) probably benign Het
Ttn T C 2: 76,580,814 (GRCm39) K15033E probably damaging Het
Uncx A G 5: 139,532,522 (GRCm39) I196V possibly damaging Het
Vamp4 A T 1: 162,405,457 (GRCm39) D28V possibly damaging Het
Vmn2r78 C T 7: 86,569,452 (GRCm39) S115F probably benign Het
Zeb1 G A 18: 5,759,007 (GRCm39) C138Y probably damaging Het
Zfp985 G A 4: 147,668,020 (GRCm39) C296Y probably damaging Het
Other mutations in Tyrp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01508:Tyrp1 APN 4 80,759,002 (GRCm39) missense possibly damaging 0.95
IGL01586:Tyrp1 APN 4 80,763,135 (GRCm39) missense probably benign 0.00
IGL01620:Tyrp1 APN 4 80,763,039 (GRCm39) nonsense probably null
IGL02126:Tyrp1 APN 4 80,755,845 (GRCm39) nonsense probably null
IGL02174:Tyrp1 APN 4 80,763,063 (GRCm39) nonsense probably null
IGL02601:Tyrp1 APN 4 80,759,012 (GRCm39) missense probably null 0.00
IGL02630:Tyrp1 APN 4 80,758,994 (GRCm39) missense possibly damaging 0.95
Browncoat UTSW 4 80,753,399 (GRCm39) missense probably damaging 1.00
butter UTSW 4 80,759,043 (GRCm39) critical splice donor site probably null
ca-los UTSW 4 80,763,105 (GRCm39) nonsense probably null
chi UTSW 4 80,759,015 (GRCm39) missense probably damaging 1.00
R0011:Tyrp1 UTSW 4 80,759,030 (GRCm39) missense probably damaging 1.00
R0011:Tyrp1 UTSW 4 80,759,030 (GRCm39) missense probably damaging 1.00
R0145:Tyrp1 UTSW 4 80,759,015 (GRCm39) missense probably damaging 1.00
R1172:Tyrp1 UTSW 4 80,763,105 (GRCm39) nonsense probably null
R1173:Tyrp1 UTSW 4 80,763,105 (GRCm39) nonsense probably null
R1175:Tyrp1 UTSW 4 80,763,105 (GRCm39) nonsense probably null
R1886:Tyrp1 UTSW 4 80,759,043 (GRCm39) critical splice donor site probably null
R2099:Tyrp1 UTSW 4 80,753,616 (GRCm39) missense possibly damaging 0.69
R2273:Tyrp1 UTSW 4 80,755,771 (GRCm39) missense probably damaging 0.99
R2274:Tyrp1 UTSW 4 80,755,771 (GRCm39) missense probably damaging 0.99
R2275:Tyrp1 UTSW 4 80,755,771 (GRCm39) missense probably damaging 0.99
R2312:Tyrp1 UTSW 4 80,755,801 (GRCm39) nonsense probably null
R2427:Tyrp1 UTSW 4 80,769,108 (GRCm39) missense probably benign 0.00
R2440:Tyrp1 UTSW 4 80,764,843 (GRCm39) missense probably benign 0.41
R2915:Tyrp1 UTSW 4 80,755,692 (GRCm39) missense possibly damaging 0.46
R4343:Tyrp1 UTSW 4 80,768,078 (GRCm39) missense possibly damaging 0.92
R4703:Tyrp1 UTSW 4 80,759,043 (GRCm39) critical splice donor site probably null
R4732:Tyrp1 UTSW 4 80,763,172 (GRCm39) missense possibly damaging 0.67
R4733:Tyrp1 UTSW 4 80,763,172 (GRCm39) missense possibly damaging 0.67
R4788:Tyrp1 UTSW 4 80,763,180 (GRCm39) nonsense probably null
R4834:Tyrp1 UTSW 4 80,764,833 (GRCm39) nonsense probably null
R4911:Tyrp1 UTSW 4 80,769,144 (GRCm39) utr 3 prime probably benign
R4938:Tyrp1 UTSW 4 80,758,883 (GRCm39) missense probably damaging 1.00
R5129:Tyrp1 UTSW 4 80,764,844 (GRCm39) missense probably damaging 1.00
R5154:Tyrp1 UTSW 4 80,768,954 (GRCm39) missense probably benign 0.00
R6249:Tyrp1 UTSW 4 80,769,009 (GRCm39) missense possibly damaging 0.93
R6492:Tyrp1 UTSW 4 80,759,018 (GRCm39) missense probably null 1.00
R6617:Tyrp1 UTSW 4 80,764,984 (GRCm39) missense probably benign 0.24
R6870:Tyrp1 UTSW 4 80,769,014 (GRCm39) missense probably benign 0.37
R6990:Tyrp1 UTSW 4 80,753,674 (GRCm39) missense probably damaging 1.00
R7275:Tyrp1 UTSW 4 80,755,821 (GRCm39) missense possibly damaging 0.78
R7684:Tyrp1 UTSW 4 80,758,862 (GRCm39) missense probably damaging 1.00
R7980:Tyrp1 UTSW 4 80,758,864 (GRCm39) missense probably damaging 1.00
R8001:Tyrp1 UTSW 4 80,758,907 (GRCm39) missense probably benign 0.10
R8051:Tyrp1 UTSW 4 80,755,897 (GRCm39) missense probably damaging 1.00
R8233:Tyrp1 UTSW 4 80,769,190 (GRCm39) missense unknown
R8326:Tyrp1 UTSW 4 80,768,921 (GRCm39) missense probably benign 0.06
R8831:Tyrp1 UTSW 4 80,753,399 (GRCm39) missense probably damaging 1.00
R8907:Tyrp1 UTSW 4 80,755,798 (GRCm39) missense probably damaging 1.00
R8998:Tyrp1 UTSW 4 80,763,094 (GRCm39) missense probably damaging 1.00
R8999:Tyrp1 UTSW 4 80,763,094 (GRCm39) missense probably damaging 1.00
R9732:Tyrp1 UTSW 4 80,758,930 (GRCm39) missense possibly damaging 0.52
R9751:Tyrp1 UTSW 4 80,759,012 (GRCm39) missense probably null 0.00
Z1176:Tyrp1 UTSW 4 80,763,126 (GRCm39) nonsense probably null
Z1177:Tyrp1 UTSW 4 80,768,054 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGCATAGCATGTTGGAATATGATTG -3'
(R):5'- TGTGAGTTACATGGAGGGACC -3'

Sequencing Primer
(F):5'- GAAAAGAGCCACTTTGTCAG -3'
(R):5'- TCTCTCCAGCTGCAGCAGATG -3'
Posted On 2015-07-21