Incidental Mutation 'R7980:Tyrp1'
ID 651126
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 046021-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R7980 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 80752360-80769956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 80758864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 246 (L246F)
Ref Sequence ENSEMBL: ENSMUSP00000006151 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006151] [ENSMUST00000102831] [ENSMUST00000133655]
AlphaFold P07147
Predicted Effect probably damaging
Transcript: ENSMUST00000006151
AA Change: L246F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006151
Gene: ENSMUSG00000005994
AA Change: L246F

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: L246F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099895
Gene: ENSMUSG00000005994
AA Change: L246F

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: ENSMUST00000133655
SMART Domains Protein: ENSMUSP00000117080
Gene: ENSMUSG00000005994

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Tyrosinase 182 229 1.1e-7 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (87/87)
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik A G 4: 88,786,315 (GRCm39) L101P unknown Het
Actn3 G A 19: 4,917,950 (GRCm39) P339L probably damaging Het
Adamts12 G A 15: 11,263,423 (GRCm39) C595Y probably damaging Het
Adrm1b T A 3: 92,336,406 (GRCm39) K99* probably null Het
Agl A T 3: 116,585,830 (GRCm39) N99K probably benign Het
Aplp1 A T 7: 30,134,992 (GRCm39) M592K probably benign Het
Arhgef11 C T 3: 87,605,297 (GRCm39) R251C probably benign Het
Arhgef12 A T 9: 42,882,595 (GRCm39) C1416* probably null Het
Asah1 A G 8: 41,807,067 (GRCm39) M119T Het
Asxl2 A T 12: 3,546,630 (GRCm39) Q471H probably damaging Het
Atp6v1c2 A T 12: 17,371,613 (GRCm39) D61E probably damaging Het
Btbd16 C A 7: 130,426,097 (GRCm39) P520Q probably damaging Het
Cacnb2 A G 2: 14,609,326 (GRCm39) E22G probably benign Het
Catspere2 G T 1: 177,830,610 (GRCm39) probably null Het
Cdc25a T A 9: 109,708,949 (GRCm39) D124E probably damaging Het
Cdc42se1 A T 3: 95,139,166 (GRCm39) probably benign Het
Cdcp3 T A 7: 130,836,506 (GRCm39) V400E probably damaging Het
Cfap54 T C 10: 92,817,922 (GRCm39) K1265E possibly damaging Het
Chaf1b A G 16: 93,681,415 (GRCm39) H11R probably damaging Het
Chil4 T C 3: 106,110,060 (GRCm39) K345E probably damaging Het
Cntnap1 A G 11: 101,079,719 (GRCm39) I1283V probably benign Het
Dagla C T 19: 10,229,406 (GRCm39) C618Y possibly damaging Het
Ddx19b C T 8: 111,738,077 (GRCm39) V224M possibly damaging Het
Dohh C T 10: 81,223,726 (GRCm39) R260* probably null Het
Dsg3 A T 18: 20,664,417 (GRCm39) N472Y probably benign Het
Duox1 T A 2: 122,177,801 (GRCm39) N1528K possibly damaging Het
Eml6 A G 11: 29,783,205 (GRCm39) Y559H probably damaging Het
Esp4 A G 17: 40,913,192 (GRCm39) T20A possibly damaging Het
Fbxw21 T C 9: 108,985,639 (GRCm39) probably null Het
Gcc2 T A 10: 58,114,574 (GRCm39) probably null Het
Grin3b C T 10: 79,811,559 (GRCm39) A715V possibly damaging Het
Gxylt2 A T 6: 100,764,170 (GRCm39) probably null Het
Hspa4 A T 11: 53,171,404 (GRCm39) S267T probably benign Het
Hspd1 A G 1: 55,117,785 (GRCm39) V491A possibly damaging Het
Idua A G 5: 108,828,486 (GRCm39) E280G probably benign Het
Ift172 T A 5: 31,417,988 (GRCm39) E1267V probably benign Het
Itsn1 T A 16: 91,702,182 (GRCm39) V1448E unknown Het
Kat6a A G 8: 23,416,432 (GRCm39) M647V possibly damaging Het
Kcnq4 A T 4: 120,568,494 (GRCm39) D407E probably benign Het
Kif1b A T 4: 149,354,378 (GRCm39) F221I probably damaging Het
Lama2 G T 10: 27,239,609 (GRCm39) D315E probably damaging Het
Lrrn4 G A 2: 132,720,096 (GRCm39) L235F probably damaging Het
Map2k6 T A 11: 110,390,210 (GRCm39) I248N Het
Mgat5 A G 1: 127,407,248 (GRCm39) Q638R probably benign Het
Mia2 A G 12: 59,155,651 (GRCm39) K455E probably damaging Het
Mrs2 A G 13: 25,204,221 (GRCm39) C3R possibly damaging Het
Nprl3 A G 11: 32,187,357 (GRCm39) I325T probably damaging Het
Nr1h3 T A 2: 91,021,229 (GRCm39) Q186L probably benign Het
Oas1f A G 5: 120,989,538 (GRCm39) E159G probably benign Het
Or2g7 A T 17: 38,378,412 (GRCm39) M117L possibly damaging Het
Or4k15b T A 14: 50,272,252 (GRCm39) S203C probably damaging Het
Or52ae7 T A 7: 103,119,504 (GRCm39) F86Y probably damaging Het
Or52e19b T A 7: 103,032,970 (GRCm39) I80F probably damaging Het
Or52s1b T A 7: 102,822,242 (GRCm39) S201C probably damaging Het
Or5m12 A G 2: 85,734,942 (GRCm39) F152S probably benign Het
Or8g4 T C 9: 39,662,417 (GRCm39) I245T probably damaging Het
Or9a4 T A 6: 40,549,154 (GRCm39) I278N probably benign Het
Pbxip1 G C 3: 89,353,648 (GRCm39) S267T probably benign Het
Pcdhga10 A T 18: 37,881,645 (GRCm39) I469F possibly damaging Het
Pkd1l1 A G 11: 8,804,375 (GRCm39) S1739P probably damaging Het
Plcd4 A C 1: 74,604,464 (GRCm39) N788T probably benign Het
Pms2 T A 5: 143,867,909 (GRCm39) W838R probably damaging Het
Pnpla6 T A 8: 3,586,562 (GRCm39) V926D probably damaging Het
Pros1 A T 16: 62,748,516 (GRCm39) H663L possibly damaging Het
Prss55 T C 14: 64,316,138 (GRCm39) probably null Het
Pum2 T C 12: 8,763,904 (GRCm39) Y283H probably damaging Het
Rad21 A G 15: 51,828,422 (GRCm39) S549P probably benign Het
Sap130 T A 18: 31,781,182 (GRCm39) probably null Het
Sertad4 C T 1: 192,529,189 (GRCm39) S209N probably benign Het
Sez6 A G 11: 77,844,668 (GRCm39) T164A probably benign Het
Slc22a28 C T 19: 8,078,837 (GRCm39) R284Q probably damaging Het
Slco4c1 T C 1: 96,764,650 (GRCm39) K474R probably benign Het
Stx5a T C 19: 8,719,802 (GRCm39) S56P probably damaging Het
Svopl T C 6: 37,991,744 (GRCm39) T379A probably damaging Het
Sypl2 A G 3: 108,125,008 (GRCm39) F118L probably damaging Het
Tfrc G A 16: 32,435,967 (GRCm39) V215M probably benign Het
Thnsl2 T C 6: 71,115,652 (GRCm39) N185S probably damaging Het
Tmem104 T C 11: 115,134,580 (GRCm39) I372T probably damaging Het
Tnfaip6 G A 2: 51,941,070 (GRCm39) G204S probably damaging Het
Trim12a C T 7: 103,953,335 (GRCm39) E259K probably benign Het
Tubgcp6 G A 15: 88,986,232 (GRCm39) R1436C probably benign Het
Ubr4 G T 4: 139,145,717 (GRCm39) V216F Het
Unc5a A G 13: 55,147,319 (GRCm39) I409V possibly damaging Het
Vmn1r15 T C 6: 57,235,399 (GRCm39) L89P probably damaging Het
Vmn1r32 A T 6: 66,530,305 (GRCm39) L157* probably null Het
Zcchc24 A G 14: 25,720,185 (GRCm39) Y160H probably damaging Het
Zfp184 A T 13: 22,144,376 (GRCm39) H694L probably damaging Het
Zfp345 A C 2: 150,314,723 (GRCm39) Y271* probably null Het
Zranb3 T C 1: 128,030,671 (GRCm39) probably benign 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
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
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'- AGTCTGGGGTCCCAAACATTATTG -3'
(R):5'- AGGGACCTTACAGGCAACAC -3'

Sequencing Primer
(F):5'- ATTGACACACTCACTGACTCCTTAG -3'
(R):5'- CTTACTGTTACAAAGTGTTCCCAGGG -3'
Posted On 2020-09-15