Incidental Mutation 'R4016:Dctpp1'
ID 311943
Institutional Source Beutler Lab
Gene Symbol Dctpp1
Ensembl Gene ENSMUSG00000042462
Gene Name dCTP pyrophosphatase 1
Synonyms RS21-C6, 2410015N17Rik
MMRRC Submission 040847-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.243) question?
Stock # R4016 (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: 96.8%
  • 20x: 93.4%
Validation Efficiency 100% (49/49)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh8a1 G A 10: 21,271,470 (GRCm39) V399I probably benign Het
Apold1 A G 6: 134,960,869 (GRCm39) I108V probably benign Het
Arpc5 G A 1: 152,644,607 (GRCm39) probably benign Het
Capn11 T A 17: 45,964,682 (GRCm39) D45V probably damaging Het
Dlat C T 9: 50,560,931 (GRCm39) probably null Het
Dock10 T A 1: 80,584,286 (GRCm39) D140V probably damaging Het
Dtx3 A G 10: 127,027,040 (GRCm39) V378A probably benign Het
Ezh2 A G 6: 47,521,516 (GRCm39) I414T probably benign Het
Gm1979 C T 5: 26,209,604 (GRCm39) W41* probably null Het
Igf2bp2 T C 16: 21,882,426 (GRCm39) N425S probably damaging Het
Kdm5a T A 6: 120,371,067 (GRCm39) Y504N probably damaging Het
Map3k21 T A 8: 126,637,924 (GRCm39) I170N probably damaging Het
Mrgpra6 C A 7: 46,838,463 (GRCm39) C245F possibly damaging Het
Nipal2 T G 15: 34,600,207 (GRCm39) K203N possibly damaging Het
Nlrp1b A G 11: 71,063,911 (GRCm39) F621S probably damaging Het
Nos3 G A 5: 24,576,714 (GRCm39) V448M probably damaging Het
Ntrk3 G T 7: 78,112,695 (GRCm39) probably benign Het
Or5b118 A T 19: 13,448,561 (GRCm39) T76S possibly damaging Het
P2rx1 T C 11: 72,900,799 (GRCm39) C190R probably damaging Het
Pdzrn4 T A 15: 92,297,630 (GRCm39) D198E probably benign Het
Ptar1 A G 19: 23,664,824 (GRCm39) M1V probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Purg T A 8: 33,877,019 (GRCm39) L219* probably null Het
Rbp3 G T 14: 33,677,347 (GRCm39) V432L possibly damaging Het
Scnn1b G T 7: 121,513,555 (GRCm39) probably null Het
Sgms1 A G 19: 32,120,192 (GRCm39) V238A possibly damaging Het
Slc16a14 G T 1: 84,890,228 (GRCm39) S359* probably null Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Spatc1l A G 10: 76,398,323 (GRCm39) S42G probably benign Het
Stra6 T A 9: 58,042,473 (GRCm39) V34E probably damaging Het
Tex14 A G 11: 87,429,449 (GRCm39) probably null Het
Tox4 T C 14: 52,523,361 (GRCm39) probably null 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
Umod A C 7: 119,075,913 (GRCm39) N284K possibly damaging Het
Unc93b1 T C 19: 3,993,572 (GRCm39) I338T probably damaging Het
Vmn2r99 C T 17: 19,598,832 (GRCm39) T172I possibly damaging Het
Whrn G A 4: 63,333,876 (GRCm39) Q415* probably null 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
R4015: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'- TGGACAGTACCCCACTTCTC -3'
(R):5'- AAAGGAGAGAGCAGCCCTTC -3'

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