Incidental Mutation 'R2915:Tyrp1'
ID 254834
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 040502-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R2915 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 80752360-80769956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 80755692 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 154 (T154A)
Ref Sequence ENSEMBL: ENSMUSP00000117080 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006151] [ENSMUST00000102831] [ENSMUST00000133655]
AlphaFold P07147
Predicted Effect possibly damaging
Transcript: ENSMUST00000006151
AA Change: T154A

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: T154A

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 possibly damaging
Transcript: ENSMUST00000102831
AA Change: T154A

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: T154A

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 possibly damaging
Transcript: ENSMUST00000133655
AA Change: T154A

PolyPhen 2 Score 0.460 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000117080
Gene: ENSMUSG00000005994
AA Change: T154A

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Tyrosinase 182 229 1.1e-7 PFAM
Meta Mutation Damage Score 0.1378 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (50/51)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aif1 G A 17: 35,391,127 (GRCm39) P44L probably benign Het
Arhgap11a A G 2: 113,663,853 (GRCm39) V810A probably damaging Het
B3gnt6 T C 7: 97,842,800 (GRCm39) N387D probably benign Het
Col5a2 C G 1: 45,452,656 (GRCm39) G358R probably damaging Het
Cracr2a A G 6: 127,588,468 (GRCm39) K209R probably damaging Het
Dmkn A G 7: 30,464,741 (GRCm39) N32S unknown Het
Dusp13b T A 14: 21,790,205 (GRCm39) N47I probably damaging Het
Elmo2 A G 2: 165,139,573 (GRCm39) probably benign Het
Ephb6 T C 6: 41,591,172 (GRCm39) F110L probably damaging Het
Gabrb2 T A 11: 42,482,734 (GRCm39) N197K probably benign Het
Gdnf T A 15: 7,845,130 (GRCm39) V41E possibly damaging Het
Gm21915 A G 9: 40,582,083 (GRCm39) I59V possibly damaging Het
Gprin2 C T 14: 33,917,038 (GRCm39) G244D possibly damaging Het
Grin2d T C 7: 45,482,781 (GRCm39) probably benign Het
Ice2 A G 9: 69,318,122 (GRCm39) D241G probably benign Het
Mios C T 6: 8,214,935 (GRCm39) R44C possibly damaging Het
Nlrp5-ps T C 7: 14,320,636 (GRCm39) noncoding transcript Het
Nyap2 C T 1: 81,065,188 (GRCm39) R67* probably null Het
Or4d6 G A 19: 12,085,989 (GRCm39) P81L probably benign Het
Or4f14 G T 2: 111,743,064 (GRCm39) D70E probably damaging Het
Or5m8 T A 2: 85,822,389 (GRCm39) V76E probably damaging Het
Or5t9 T C 2: 86,659,570 (GRCm39) I158T probably benign Het
Or8g19 G T 9: 39,055,762 (GRCm39) R122L possibly damaging Het
Otop2 G A 11: 115,219,972 (GRCm39) A271T probably benign Het
Otulin A G 15: 27,619,716 (GRCm39) probably benign Het
Pax1 A G 2: 147,210,348 (GRCm39) Y361C probably damaging Het
Pcdhb12 A T 18: 37,570,693 (GRCm39) N613I probably damaging Het
Plekha5 A G 6: 140,534,925 (GRCm39) K173E probably damaging Het
Plin4 T A 17: 56,411,389 (GRCm39) T881S probably damaging Het
Poli A G 18: 70,655,771 (GRCm39) probably null Het
Prex2 T A 1: 11,240,077 (GRCm39) F898I probably damaging Het
Prr14l A T 5: 32,987,112 (GRCm39) H794Q probably benign Het
Prss1 A T 6: 41,439,545 (GRCm39) I93F probably benign Het
Ptpro C T 6: 137,391,239 (GRCm39) probably benign Het
Rad1 T C 15: 10,486,728 (GRCm39) C42R probably damaging Het
Rnf20 A G 4: 49,638,769 (GRCm39) E197G probably benign Het
Setx A G 2: 29,062,336 (GRCm39) E2260G probably damaging Het
Sgk1 C T 10: 21,872,500 (GRCm39) R171W probably damaging Het
Six2 A G 17: 85,992,616 (GRCm39) S296P probably damaging Het
Smg1 T A 7: 117,810,102 (GRCm39) probably benign Het
Spred2 T C 11: 19,948,215 (GRCm39) V41A probably damaging Het
Ssu2 A T 6: 112,354,566 (GRCm39) C219* probably null Het
Tbc1d9b T A 11: 50,040,563 (GRCm39) V360D possibly damaging Het
Tdrd9 G A 12: 112,006,895 (GRCm39) D920N probably damaging Het
Vrk3 C T 7: 44,424,866 (GRCm39) T427M probably benign Het
Wac A C 18: 7,926,131 (GRCm39) M596L possibly damaging Het
Zfhx2 G T 14: 55,302,014 (GRCm39) P1990Q probably damaging Het
Zfp853 T C 5: 143,275,332 (GRCm39) E96G unknown Het
Zzef1 G A 11: 72,801,152 (GRCm39) probably null 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
R4343:Tyrp1 UTSW 4 80,768,078 (GRCm39) missense possibly damaging 0.92
R4512:Tyrp1 UTSW 4 80,755,749 (GRCm39) missense probably damaging 1.00
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'- AGCATCTTGGAAATGATAACCAGC -3'
(R):5'- CCTTCGTGAGAGAAATCCACATCC -3'

Sequencing Primer
(F):5'- AGAGGCATAGCATGTTGG -3'
(R):5'- ACATCCCCAAAGCTTTCCTG -3'
Posted On 2014-12-29