Incidental Mutation 'R4015:Dctpp1'
ID 311908
Institutional Source Beutler Lab
Gene Symbol Dctpp1
Ensembl Gene ENSMUSG00000042462
Gene Name dCTP pyrophosphatase 1
Synonyms RS21-C6, 2410015N17Rik
MMRRC Submission 040952-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R4015 (G1)
Quality Score 225
Status Validated
Chromosome 7
Chromosomal Location 126856131-126859839 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126856285 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 146 (R146C)
Ref Sequence ENSEMBL: ENSMUSP00000047845 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035276] [ENSMUST00000052509] [ENSMUST00000205583]
AlphaFold Q9QY93
PDB Structure X-Ray Structure of Protein from Mus Musculus MM.29898 [X-RAY DIFFRACTION]
Crystal structure of RS21-C6 core segment RSCUT [X-RAY DIFFRACTION]
Crystal structure of RS21-C6 core segment and dm5CTP complex [X-RAY DIFFRACTION]
Ensemble refinement of the crystal structure of protein from Mus musculus Mm.29898 [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000035276
AA Change: R146C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047845
Gene: ENSMUSG00000042462
AA Change: R146C

DomainStartEndE-ValueType
Pfam:MazG 51 132 7.2e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000052509
SMART Domains Protein: ENSMUSP00000056959
Gene: ENSMUSG00000054716

DomainStartEndE-ValueType
low complexity region 4 40 N/A INTRINSIC
ZnF_C2H2 63 85 1.82e-3 SMART
ZnF_C2H2 91 113 4.72e-2 SMART
ZnF_C2H2 119 141 5.67e-5 SMART
ZnF_C2H2 147 169 4.17e-3 SMART
ZnF_C2H2 175 197 5.5e-3 SMART
ZnF_C2H2 203 225 1.45e-2 SMART
ZnF_C2H2 231 253 2.95e-3 SMART
ZnF_C2H2 259 281 9.58e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000205583
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.5%
Validation Efficiency 97% (38/39)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is dCTP pyrophosphatase, which converts dCTP to dCMP and inorganic pyrophosphate. The encoded protein also displays weak activity against dTTP and dATP, but none against dGTP. This protein may be responsible for eliminating excess dCTP after DNA synthesis and may prevent overmethylation of CpG islands. Three transcript variants, one protein-coding and the other two non-protein coding, have been found for this gene. [provided by RefSeq, Dec 2015]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb6 C T 1: 75,151,135 (GRCm39) probably null Het
Cacna1e T C 1: 154,358,331 (GRCm39) D580G probably damaging Het
Ccdc66 A G 14: 27,205,793 (GRCm39) I898T probably damaging Het
Celf3 T C 3: 94,394,505 (GRCm39) V202A probably benign Het
Cfap161 C T 7: 83,429,479 (GRCm39) G180S probably benign Het
Col5a2 T C 1: 45,442,631 (GRCm39) I605V probably benign Het
Coq6 A G 12: 84,413,671 (GRCm39) H67R probably benign Het
Cyp2b19 T C 7: 26,461,768 (GRCm39) F196S probably damaging Het
Cyp4a14 G T 4: 115,348,331 (GRCm39) P382Q probably damaging Het
Ddias T C 7: 92,509,069 (GRCm39) K282R probably benign Het
Dnah10 A G 5: 124,854,990 (GRCm39) Q1965R probably benign Het
Gm10608 CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA 9: 118,989,784 (GRCm39) probably null Het
Igf2bp2 T C 16: 21,882,426 (GRCm39) N425S probably damaging Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Mocs2 T C 13: 114,957,334 (GRCm39) probably benign Het
Muc5b G A 7: 141,417,367 (GRCm39) V3438M probably benign Het
Myo3a A G 2: 22,468,182 (GRCm39) R479G possibly damaging Het
Nalcn T G 14: 123,723,799 (GRCm39) E422A probably damaging Het
Pcdh17 T C 14: 84,684,547 (GRCm39) V338A probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rbm12b1 T C 4: 12,145,491 (GRCm39) S488P probably benign Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Srcap C A 7: 127,124,595 (GRCm39) P255Q probably benign Het
Sult6b2 T A 6: 142,735,988 (GRCm39) N202I possibly damaging Het
Tcf7l1 A G 6: 72,613,382 (GRCm39) probably benign Het
Tef T C 15: 81,707,806 (GRCm39) V261A probably damaging Het
Trio C T 15: 27,744,187 (GRCm39) V2582I possibly damaging Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Uggt2 T C 14: 119,263,845 (GRCm39) N1062D possibly damaging Het
Unc13b G A 4: 43,237,801 (GRCm39) G3441R probably damaging Het
Vmn1r214 G A 13: 23,219,520 (GRCm39) C338Y probably benign Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Zfp867 A G 11: 59,354,520 (GRCm39) F270L probably damaging Het
Other mutations in Dctpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0624:Dctpp1 UTSW 7 126,856,365 (GRCm39) missense probably damaging 0.99
R4014:Dctpp1 UTSW 7 126,856,285 (GRCm39) missense probably damaging 0.97
R4016:Dctpp1 UTSW 7 126,856,285 (GRCm39) missense probably damaging 0.97
R4017:Dctpp1 UTSW 7 126,856,285 (GRCm39) missense probably damaging 0.97
R8079:Dctpp1 UTSW 7 126,858,561 (GRCm39) missense probably damaging 0.99
R9121:Dctpp1 UTSW 7 126,856,456 (GRCm39) missense probably damaging 1.00
R9267:Dctpp1 UTSW 7 126,856,275 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGGACAGTACCCCACTTC -3'
(R):5'- AAAGGAGAGAGCAGCCCTTC -3'

Sequencing Primer
(F):5'- CCACTTCTCTGCAGGATTTGAG -3'
(R):5'- CTTCAGGAGGAGCTTAGCGAC -3'
Posted On 2015-04-29