Incidental Mutation 'R5811:Dct'
ID 447527
Institutional Source Beutler Lab
Gene Symbol Dct
Ensembl Gene ENSMUSG00000022129
Gene Name dopachrome tautomerase
Synonyms Tyrp-2, TRP2, tyrosinase-related protein-2, Tyrp2, TRP-2
MMRRC Submission 043213-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5811 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 118250202-118289656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118250600 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 466 (V466A)
Ref Sequence ENSEMBL: ENSMUSP00000022725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022725]
AlphaFold P29812
Predicted Effect probably benign
Transcript: ENSMUST00000022725
AA Change: V466A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022725
Gene: ENSMUSG00000022129
AA Change: V466A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Blast:EGF 90 118 4e-6 BLAST
Pfam:Tyrosinase 179 409 1.2e-35 PFAM
transmembrane domain 469 491 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
MGI Phenotype PHENOTYPE: Mutations in this melanocyte protein gene cause coat color dilution. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btnl1 A T 17: 34,604,503 (GRCm39) K428M probably damaging Het
Chid1 G A 7: 141,110,166 (GRCm39) T53M probably damaging Het
Clnk A G 5: 38,870,490 (GRCm39) V356A probably damaging Het
Cryba4 C T 5: 112,398,937 (GRCm39) V36I probably benign Het
Dnmt3l A G 10: 77,887,929 (GRCm39) D146G possibly damaging Het
Epas1 A G 17: 87,131,203 (GRCm39) N328D probably damaging Het
Fat4 C T 3: 38,945,936 (GRCm39) R1610W probably damaging Het
Filip1l T C 16: 57,390,657 (GRCm39) V415A probably damaging Het
Garnl3 A G 2: 32,896,911 (GRCm39) L576P probably damaging Het
Gjd3 A T 11: 98,873,226 (GRCm39) V206E possibly damaging Het
Gpr135 A T 12: 72,116,641 (GRCm39) D375E possibly damaging Het
Gsdme T A 6: 50,222,925 (GRCm39) Q130L probably benign Het
Hcls1 A G 16: 36,777,702 (GRCm39) M274V probably null Het
Kcnn4 T C 7: 24,077,030 (GRCm39) V193A probably damaging Het
Kctd16 T C 18: 40,391,505 (GRCm39) V31A probably damaging Het
Lamc2 C T 1: 153,041,999 (GRCm39) R45Q possibly damaging Het
Lrrc66 T A 5: 73,772,860 (GRCm39) I203F possibly damaging Het
Mark4 T C 7: 19,182,564 (GRCm39) D91G probably damaging Het
Mcm6 A T 1: 128,263,465 (GRCm39) probably benign Het
Mecom C T 3: 30,015,149 (GRCm39) S602N probably benign Het
Muc5ac T C 7: 141,352,721 (GRCm39) V736A possibly damaging Het
Nr2e3 TCCATCGGAGTGTTCCC TC 9: 59,850,701 (GRCm39) probably benign Het
Or2h2c C A 17: 37,422,649 (GRCm39) C75F probably benign Het
Pdia5 A T 16: 35,269,790 (GRCm39) M173K possibly damaging Het
Pih1d2 T C 9: 50,532,374 (GRCm39) L144P probably damaging Het
Plch2 C T 4: 155,077,024 (GRCm39) E577K possibly damaging Het
Samd4b T C 7: 28,107,445 (GRCm39) S275G probably damaging Het
Sap130 T C 18: 31,822,495 (GRCm39) V668A probably benign Het
Sema3c T A 5: 17,880,188 (GRCm39) probably null Het
Slc9a8 C T 2: 167,313,307 (GRCm39) R390* probably null Het
Vmn2r89 A T 14: 51,693,565 (GRCm39) N305I probably benign Het
Wdr33 T C 18: 32,035,673 (GRCm39) F1164L unknown Het
Zfp873 T A 10: 81,896,567 (GRCm39) C470S probably damaging Het
Other mutations in Dct
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00945:Dct APN 14 118,277,916 (GRCm39) missense probably damaging 1.00
IGL01399:Dct APN 14 118,273,890 (GRCm39) missense probably damaging 0.99
IGL01995:Dct APN 14 118,271,655 (GRCm39) missense probably damaging 0.96
R0589:Dct UTSW 14 118,280,682 (GRCm39) missense probably benign 0.17
R1101:Dct UTSW 14 118,274,034 (GRCm39) missense probably damaging 1.00
R1665:Dct UTSW 14 118,271,663 (GRCm39) missense probably damaging 1.00
R1823:Dct UTSW 14 118,273,935 (GRCm39) missense probably benign 0.20
R1902:Dct UTSW 14 118,271,690 (GRCm39) missense probably benign 0.00
R1903:Dct UTSW 14 118,271,690 (GRCm39) missense probably benign 0.00
R1985:Dct UTSW 14 118,273,954 (GRCm39) missense probably benign 0.11
R2210:Dct UTSW 14 118,280,561 (GRCm39) missense probably benign
R6025:Dct UTSW 14 118,273,876 (GRCm39) missense possibly damaging 0.52
R7974:Dct UTSW 14 118,277,067 (GRCm39) missense probably damaging 1.00
R8401:Dct UTSW 14 118,280,615 (GRCm39) missense possibly damaging 0.71
Predicted Primers PCR Primer
(F):5'- TGTCTCAAGATGAGCGACGG -3'
(R):5'- ACAGTTGTGGTTAGGGTAACAG -3'

Sequencing Primer
(F):5'- GCGACGGTGTAATTAGTTACTACCC -3'
(R):5'- TTGTGGTTAGGGTAACAGCGAGAAG -3'
Posted On 2016-12-15