Incidental Mutation 'R2427:Tyrp1'
ID 250266
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 040389-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R2427 (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 80769108 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 134 (T134A)
Ref Sequence ENSEMBL: ENSMUSP00000119167 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006151] [ENSMUST00000102831] [ENSMUST00000133932]
AlphaFold P07147
Predicted Effect probably benign
Transcript: ENSMUST00000006151
AA Change: H534R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: H534R

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 benign
Transcript: ENSMUST00000102831
AA Change: H534R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: H534R

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
AA Change: T134A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000119167
Gene: ENSMUSG00000005994
AA Change: T134A

DomainStartEndE-ValueType
Pfam:Tyrosinase 1 51 1e-12 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.0%
Validation Efficiency 100% (37/37)
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankmy1 A G 1: 92,798,529 (GRCm39) probably null Het
Atp2a1 T A 7: 126,045,755 (GRCm39) *995L probably null Het
Axin2 T A 11: 108,814,800 (GRCm39) N229K possibly damaging Het
Capn13 A T 17: 73,633,312 (GRCm39) probably benign Het
Ccdc180 A G 4: 45,929,545 (GRCm39) I1202V probably benign Het
Cep295 A G 9: 15,245,534 (GRCm39) L974P probably damaging Het
Cers3 T C 7: 66,445,541 (GRCm39) Y321H probably benign Het
Chrnb4 T C 9: 54,942,101 (GRCm39) Y391C probably benign Het
Ciao1 T C 2: 127,088,611 (GRCm39) H104R probably damaging Het
Cldn4 A T 5: 134,975,331 (GRCm39) V90E probably damaging Het
Crbn T C 6: 106,760,433 (GRCm39) E253G probably damaging Het
Ctns A G 11: 73,087,512 (GRCm39) W5R probably damaging Het
Eme1 G A 11: 94,541,801 (GRCm39) probably benign Het
Fat2 T A 11: 55,201,638 (GRCm39) T479S probably benign Het
Fbxw25 T C 9: 109,481,928 (GRCm39) N253D probably benign Het
Fer A G 17: 64,264,298 (GRCm39) I39V probably benign Het
Fmnl2 A G 2: 53,006,991 (GRCm39) M768V probably damaging Het
Frg1 T C 8: 41,867,903 (GRCm39) K24E probably damaging Het
I830077J02Rik G T 3: 105,835,320 (GRCm39) A19D probably damaging Het
Ighv1-20 C T 12: 114,687,692 (GRCm39) silent Het
Igsf9 A G 1: 172,318,306 (GRCm39) S149G probably damaging Het
Klra10 T A 6: 130,256,298 (GRCm39) I119F probably benign Het
Lrrc4b T A 7: 44,111,976 (GRCm39) I616N probably damaging Het
Lrrc71 T C 3: 87,653,309 (GRCm39) T64A probably benign Het
Ly9 A T 1: 171,434,800 (GRCm39) I31N probably damaging Het
Mef2a A G 7: 66,915,808 (GRCm39) S165P probably damaging Het
Nol4 T G 18: 22,983,755 (GRCm39) probably benign Het
Nt5el T C 13: 105,246,269 (GRCm39) F277L probably benign Het
Plxnd1 C T 6: 115,944,709 (GRCm39) probably null Het
Rab27b T C 18: 70,129,205 (GRCm39) T30A probably damaging Het
Rasa4 A G 5: 136,130,881 (GRCm39) D384G probably benign Het
Slx4 G A 16: 3,806,851 (GRCm39) L531F probably damaging Het
Tafa4 C T 6: 96,991,328 (GRCm39) probably benign Het
Tgm1 C T 14: 55,949,557 (GRCm39) probably null Het
Tpm2 T C 4: 43,523,306 (GRCm39) N17D probably damaging Het
Zfand6 T A 7: 84,283,498 (GRCm39) K35* probably null Het
Zfp648 G A 1: 154,080,819 (GRCm39) C326Y 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
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
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'- AAATCATTACCATTGCTGTAGTGGC -3'
(R):5'- TCCTCTCAGATATCACACAACTGG -3'

Sequencing Primer
(F):5'- CTGCGTTGTTACTTGTAGCTGCC -3'
(R):5'- CACACAACTGGTATAATTTGCCATC -3'
Posted On 2014-11-12