Incidental Mutation 'R2210:Dct'
ID 239329
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 040212-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2210 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 118250202-118289656 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118280561 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 152 (I152V)
Ref Sequence ENSEMBL: ENSMUSP00000022725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022725]
AlphaFold P29812
Predicted Effect probably benign
Transcript: ENSMUST00000022725
AA Change: I152V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022725
Gene: ENSMUSG00000022129
AA Change: I152V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228171
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228548
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 95.0%
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
2210016L21Rik C G 5: 115,080,348 (GRCm39) R28G probably damaging Het
Adgrb1 C T 15: 74,419,553 (GRCm39) A798V probably damaging Het
Ash1l G T 3: 88,973,605 (GRCm39) D2555Y probably damaging Het
Atr G A 9: 95,789,353 (GRCm39) R1503Q probably damaging Het
Cbln3 T A 14: 56,121,383 (GRCm39) I88F possibly damaging Het
Cct7 G A 6: 85,436,212 (GRCm39) G41D probably damaging Het
Cd1d2 G T 3: 86,895,041 (GRCm39) A138S possibly damaging Het
Dgkq C A 5: 108,808,389 (GRCm39) R58L probably damaging Het
Emc10 G A 7: 44,142,616 (GRCm39) R109W probably damaging Het
Gm4884 A T 7: 40,692,970 (GRCm39) E313V possibly damaging Het
Hectd1 A T 12: 51,853,245 (GRCm39) I92K probably damaging Het
Icam1 A G 9: 20,930,329 (GRCm39) E61G probably damaging Het
Itgb2l C T 16: 96,227,421 (GRCm39) V541M possibly damaging Het
Lmtk2 A G 5: 144,084,427 (GRCm39) E154G probably damaging Het
Majin C A 19: 6,272,728 (GRCm39) H223N possibly damaging Het
Mc4r A T 18: 66,992,466 (GRCm39) F216I probably damaging Het
Muc4 AG AGG 16: 32,755,176 (GRCm38) probably null Het
Obscn A T 11: 58,958,913 (GRCm39) V3379D probably damaging Het
Or8g30 A T 9: 39,230,089 (GRCm39) S274T probably damaging Het
Pde4b A T 4: 102,454,672 (GRCm39) N346I probably damaging Het
Pitpnm1 T C 19: 4,155,253 (GRCm39) S331P probably damaging Het
Plcb2 T A 2: 118,547,984 (GRCm39) I437F probably damaging Het
Pramel14 T A 4: 143,720,789 (GRCm39) M51L probably benign Het
Prr12 A G 7: 44,698,775 (GRCm39) probably benign Het
Pus7l T G 15: 94,438,173 (GRCm39) D224A possibly damaging Het
Sh3pxd2a A G 19: 47,255,782 (GRCm39) S1007P possibly damaging Het
Stac G A 9: 111,431,638 (GRCm39) P238S probably damaging Het
Tmem107 A G 11: 68,962,096 (GRCm39) E45G possibly damaging Het
Tmt1b T A 10: 128,794,591 (GRCm39) K244N probably damaging Het
Triml2 T C 8: 43,636,397 (GRCm39) Y61H probably damaging Het
Uba2 T C 7: 33,862,587 (GRCm39) D95G probably damaging Het
Ube2d3 T A 3: 135,168,802 (GRCm39) D132E probably benign Het
Unc5d A G 8: 29,251,825 (GRCm39) I216T 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
R5811:Dct UTSW 14 118,250,600 (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'- TGCGCGGTAAGCCAATTTG -3'
(R):5'- TTCTACCTGGAATTCCAACTGAG -3'

Sequencing Primer
(F):5'- CGGTAAGCCAATTTGGGAAACCC -3'
(R):5'- CCTGGAATTCCAACTGAGAATTTTC -3'
Posted On 2014-10-15