Incidental Mutation 'R4014:Dctpp1'
ID 311862
Institutional Source Beutler Lab
Gene Symbol Dctpp1
Ensembl Gene ENSMUSG00000042462
Gene Name dCTP pyrophosphatase 1
Synonyms RS21-C6, 2410015N17Rik
MMRRC Submission 040951-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.219) question?
Stock # R4014 (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: 93.6%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,811,559 (GRCm39) Q1008L probably benign Het
Adgrg7 A G 16: 56,562,651 (GRCm39) F562S probably damaging Het
Alms1 T A 6: 85,655,334 (GRCm39) N3293K probably benign Het
Cdk20 T A 13: 64,585,319 (GRCm39) V201D probably benign Het
Cenpf A G 1: 189,385,356 (GRCm39) V2308A probably benign Het
Chek1 T C 9: 36,634,050 (GRCm39) probably benign Het
Ciz1 G T 2: 32,264,356 (GRCm39) E497D probably damaging Het
Clcn6 A G 4: 148,102,067 (GRCm39) F339S probably damaging Het
Dennd5a C T 7: 109,534,688 (GRCm39) probably null Het
Dmxl1 G A 18: 49,997,029 (GRCm39) V442I probably benign Het
Dmxl2 C A 9: 54,285,993 (GRCm39) probably null Het
Dnah11 A G 12: 117,938,649 (GRCm39) I3273T probably benign Het
Dnhd1 T A 7: 105,364,045 (GRCm39) D4132E probably damaging Het
Dst G A 1: 34,230,363 (GRCm39) W2327* probably null Het
Epb41 A T 4: 131,709,756 (GRCm39) probably benign Het
Frem2 C T 3: 53,559,774 (GRCm39) V1578I probably benign Het
Fsip2 A G 2: 82,813,862 (GRCm39) T3394A probably benign Het
Gabra5 C T 7: 57,138,758 (GRCm39) D97N probably damaging Het
Habp2 A G 19: 56,308,054 (GRCm39) E546G probably benign Het
Hace1 A G 10: 45,464,470 (GRCm39) probably benign Het
Herc4 T C 10: 63,123,323 (GRCm39) S433P probably benign Het
Igf2bp2 T C 16: 21,882,426 (GRCm39) N425S probably damaging Het
Krt26 C T 11: 99,226,128 (GRCm39) G189S probably damaging Het
Lama2 A T 10: 26,860,372 (GRCm39) D3038E probably damaging Het
Lmbrd2 T C 15: 9,151,672 (GRCm39) probably benign Het
Lrp1b A G 2: 40,692,996 (GRCm39) F3401L possibly damaging Het
Map2k7 T A 8: 4,297,663 (GRCm39) S421R possibly damaging Het
Matn1 A G 4: 130,679,258 (GRCm39) Q304R possibly damaging Het
Muc4 C T 16: 32,575,647 (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
Mzf1 A G 7: 12,777,883 (GRCm39) V586A possibly damaging Het
Or7g12 T C 9: 18,900,178 (GRCm39) V298A probably benign Het
Or9g20 A T 2: 85,629,820 (GRCm39) Y265N probably damaging Het
Pcdhgb7 A T 18: 37,885,416 (GRCm39) E195D probably benign Het
Pde4b A G 4: 102,412,822 (GRCm39) D199G probably benign Het
Rnf213 C T 11: 119,336,555 (GRCm39) Q3309* probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc22a4 C G 11: 53,888,218 (GRCm39) C270S probably benign Het
Smarca2 G A 19: 26,661,327 (GRCm39) probably null Het
Spata31d1c T C 13: 65,183,213 (GRCm39) S252P probably damaging Het
Tyr A G 7: 87,087,148 (GRCm39) S455P probably benign Het
Urb1 A T 16: 90,566,353 (GRCm39) M1478K probably damaging Het
Usp1 A G 4: 98,822,939 (GRCm39) D751G probably damaging Het
Vmn1r214 G A 13: 23,219,520 (GRCm39) C338Y probably benign Het
Vmn2r103 A G 17: 20,013,866 (GRCm39) I219M possibly damaging Het
Wwp2 A G 8: 108,212,253 (GRCm39) N139S probably benign Het
Other mutations in Dctpp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0624:Dctpp1 UTSW 7 126,856,365 (GRCm39) missense probably damaging 0.99
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
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'- ACAGTACCCCACTTCTCTGCAG -3'
(R):5'- TCAAGCATGGCCACCAAAGG -3'

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