Incidental Mutation 'R6463:Ntpcr'
ID 517690
Institutional Source Beutler Lab
Gene Symbol Ntpcr
Ensembl Gene ENSMUSG00000031851
Gene Name nucleoside-triphosphatase, cancer-related
MMRRC Submission 045324-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6463 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 125729963-125748235 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 125736104 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 20 (E20G)
Ref Sequence ENSEMBL: ENSMUSP00000115996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034313] [ENSMUST00000065135] [ENSMUST00000143504] [ENSMUST00000152189]
AlphaFold Q9CQA9
Predicted Effect probably benign
Transcript: ENSMUST00000034313
AA Change: E24G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000034313
Gene: ENSMUSG00000031851
AA Change: E24G

AAA 1 170 2.61e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000065135
AA Change: E24G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000069384
Gene: ENSMUSG00000031851
AA Change: E24G

Pfam:NTPase_1 4 107 1.4e-40 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138656
Predicted Effect silent
Transcript: ENSMUST00000143504
SMART Domains Protein: ENSMUSP00000121271
Gene: ENSMUSG00000031851

Pfam:NTPase_1 56 145 5.4e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151172
Predicted Effect probably benign
Transcript: ENSMUST00000152189
AA Change: E20G

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000115996
Gene: ENSMUSG00000031851
AA Change: E20G

Pfam:NTPase_1 6 178 3.2e-63 PFAM
Meta Mutation Damage Score 0.0843 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.4%
Validation Efficiency 100% (51/51)
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 a non-specific nucleoside triphosphatase that is slow-acting in vitro. This gene is overexpressed in many tumor tissues, and while it is not essential for the cell, overexpression is cytotoxic. However, the cytotoxicity is not related to its triphosphatase activity. [provided by RefSeq, Jul 2016]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,938 (GRCm38) H48L probably damaging Het
Aifm3 A G 16: 17,500,789 (GRCm38) I185V probably benign Het
Asb7 A T 7: 66,660,236 (GRCm38) D77E probably damaging Het
Cacna1i T C 15: 80,355,758 (GRCm38) I336T probably damaging Het
Cadps2 A T 6: 23,323,334 (GRCm38) L1016* probably null Het
Cep63 C A 9: 102,596,155 (GRCm38) M504I probably benign Het
Chpf2 G T 5: 24,589,526 (GRCm38) L231F probably damaging Het
Cnot10 T C 9: 114,625,902 (GRCm38) Y221C probably damaging Het
Col3a1 G A 1: 45,342,205 (GRCm38) probably benign Het
Csl T C 10: 99,759,098 (GRCm38) D35G probably damaging Het
Csmd3 T C 15: 47,676,479 (GRCm38) Y2286C probably damaging Het
Dbt A G 3: 116,539,760 (GRCm38) E293G possibly damaging Het
Ddx31 T A 2: 28,847,513 (GRCm38) probably null Het
Dnm1 T C 2: 32,309,591 (GRCm38) probably benign Het
Elfn1 A G 5: 139,972,285 (GRCm38) Y348C probably damaging Het
Enpp5 G A 17: 44,085,264 (GRCm38) G356S probably damaging Het
Epha5 T A 5: 84,106,710 (GRCm38) I657F probably damaging Het
Fbp1 A G 13: 62,865,010 (GRCm38) F123S possibly damaging Het
Hkdc1 T C 10: 62,393,702 (GRCm38) N732S probably damaging Het
Itfg1 A G 8: 85,736,151 (GRCm38) S448P probably benign Het
Itprid1 A G 6: 55,968,678 (GRCm38) R795G probably benign Het
Izumo2 A G 7: 44,709,074 (GRCm38) K84R probably benign Het
Kbtbd3 A G 9: 4,316,921 (GRCm38) Y24C probably benign Het
Kif1b T C 4: 149,192,596 (GRCm38) M1337V probably benign Het
Mdn1 T C 4: 32,773,308 (GRCm38) L5489P probably damaging Het
Mettl2 G A 11: 105,132,581 (GRCm38) probably null Het
Mtr T C 13: 12,216,866 (GRCm38) T651A probably benign Het
Naglu A G 11: 101,077,351 (GRCm38) probably null Het
Nkx6-1 G T 5: 101,659,476 (GRCm38) H347N probably damaging Het
Oas2 T C 5: 120,734,981 (GRCm38) R670G probably null Het
Or10h1 G A 17: 33,199,638 (GRCm38) V197I probably benign Het
Or2ag16 C G 7: 106,752,801 (GRCm38) E196Q probably benign Het
Or4p8 T C 2: 88,897,118 (GRCm38) I160V probably benign Het
Phldb2 A C 16: 45,774,993 (GRCm38) V902G probably benign Het
Rdh7 T C 10: 127,885,781 (GRCm38) R209G probably benign Het
Slc13a3 A C 2: 165,445,653 (GRCm38) L127R probably damaging Het
Slc6a20b T A 9: 123,604,949 (GRCm38) I275F possibly damaging Het
St3gal1 A G 15: 67,111,346 (GRCm38) V187A possibly damaging Het
Tmx4 T C 2: 134,620,639 (GRCm38) Y124C probably damaging Het
Trh A T 6: 92,242,843 (GRCm38) M164K possibly damaging Het
Trhr A G 15: 44,197,585 (GRCm38) N167S probably benign Het
Ttll7 G A 3: 146,931,582 (GRCm38) R490Q possibly damaging Het
Uck1 T C 2: 32,258,655 (GRCm38) N100S probably benign Het
Ucp3 A T 7: 100,480,269 (GRCm38) T104S probably benign Het
Vmn2r28 T A 7: 5,486,436 (GRCm38) H468L probably benign Het
Xaf1 G A 11: 72,308,638 (GRCm38) R67H probably benign Het
Ypel4 T C 2: 84,736,743 (GRCm38) probably benign Het
Zfp687 A G 3: 95,010,784 (GRCm38) I559T probably damaging Het
Other mutations in Ntpcr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Ntpcr APN 8 125,747,762 (GRCm38) missense probably damaging 0.98
IGL01582:Ntpcr APN 8 125,745,242 (GRCm38) missense probably benign 0.11
IGL01862:Ntpcr APN 8 125,736,098 (GRCm38) missense probably benign 0.14
IGL02045:Ntpcr APN 8 125,745,452 (GRCm38) splice site probably benign
IGL02077:Ntpcr APN 8 125,737,368 (GRCm38) nonsense probably null
R0491:Ntpcr UTSW 8 125,737,354 (GRCm38) nonsense probably null
R0988:Ntpcr UTSW 8 125,737,431 (GRCm38) splice site probably benign
R1781:Ntpcr UTSW 8 125,745,402 (GRCm38) missense probably damaging 1.00
R2412:Ntpcr UTSW 8 125,745,405 (GRCm38) missense probably damaging 1.00
R3838:Ntpcr UTSW 8 125,737,372 (GRCm38) missense probably damaging 1.00
R4453:Ntpcr UTSW 8 125,736,190 (GRCm38) missense probably benign 0.14
R6126:Ntpcr UTSW 8 125,735,887 (GRCm38) critical splice donor site probably null
R6440:Ntpcr UTSW 8 125,745,242 (GRCm38) missense probably damaging 0.97
R7102:Ntpcr UTSW 8 125,730,055 (GRCm38) missense unknown
R7910:Ntpcr UTSW 8 125,747,744 (GRCm38) missense probably benign
R8230:Ntpcr UTSW 8 125,737,420 (GRCm38) critical splice donor site probably null
R8732:Ntpcr UTSW 8 125,745,335 (GRCm38) missense probably benign
R8876:Ntpcr UTSW 8 125,738,046 (GRCm38) intron probably benign
X0024:Ntpcr UTSW 8 125,745,426 (GRCm38) missense probably damaging 0.99
X0025:Ntpcr UTSW 8 125,745,315 (GRCm38) missense probably damaging 1.00
Z1177:Ntpcr UTSW 8 125,745,284 (GRCm38) frame shift probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2018-05-21