Incidental Mutation 'R4017:Dctpp1'
ID 311990
Institutional Source Beutler Lab
Gene Symbol Dctpp1
Ensembl Gene ENSMUSG00000042462
Gene Name dCTP pyrophosphatase 1
Synonyms RS21-C6, 2410015N17Rik
MMRRC Submission 041611-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R4017 (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: 99.3%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 97% (36/37)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actn3 G T 19: 4,917,574 (GRCm39) T423N possibly damaging Het
Apold1 A G 6: 134,960,869 (GRCm39) I108V probably benign Het
Arhgap21 G T 2: 20,896,915 (GRCm39) F121L probably benign Het
BC004004 T C 17: 29,517,706 (GRCm39) S307P probably damaging Het
Cpeb4 A G 11: 31,874,671 (GRCm39) D484G probably damaging Het
Dnm2 A G 9: 21,405,900 (GRCm39) Y553C probably damaging Het
Dync1h1 G T 12: 110,609,624 (GRCm39) R2802I probably damaging Het
Eif2a T A 3: 58,452,776 (GRCm39) M209K probably damaging Het
Epb41 A T 4: 131,709,756 (GRCm39) probably benign Het
Fnip1 A G 11: 54,400,813 (GRCm39) K1071E probably benign 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
Kif1a T C 1: 93,004,014 (GRCm39) D156G probably damaging Het
Klhl10 G A 11: 100,336,500 (GRCm39) M162I probably benign Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Lrp6 G T 6: 134,497,513 (GRCm39) R165S probably damaging 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
Npr1 T C 3: 90,363,539 (GRCm39) E828G probably damaging Het
Obscn A G 11: 59,023,448 (GRCm39) F643S probably damaging Het
Or11h23 A T 14: 50,948,333 (GRCm39) D182V probably benign Het
Or12e1 A G 2: 87,022,846 (GRCm39) S272G probably benign Het
Pcdhga8 T C 18: 37,948,791 (GRCm39) V69A probably damaging Het
Ppp6r1 C A 7: 4,636,743 (GRCm39) C688F probably benign Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rnf157 A T 11: 116,250,067 (GRCm39) probably null Het
Saxo1 A T 4: 86,476,233 (GRCm39) I7N possibly damaging Het
Scn7a A T 2: 66,572,329 (GRCm39) I214N probably damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Suz12 G T 11: 79,904,292 (GRCm39) V211F probably damaging Het
Trim9 G A 12: 70,393,126 (GRCm39) H273Y probably damaging Het
Uggt2 T C 14: 119,263,845 (GRCm39) N1062D possibly damaging Het
Wdr70 A T 15: 8,108,698 (GRCm39) C149* probably null Het
Zfp940 T C 7: 29,545,359 (GRCm39) I183V probably benign 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
R4016: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