Incidental Mutation 'R0491:Ntpcr'
ID 42475
Institutional Source Beutler Lab
Gene Symbol Ntpcr
Ensembl Gene ENSMUSG00000031851
Gene Name nucleoside-triphosphatase, cancer-related
Synonyms 2310079N02Rik
MMRRC Submission 038689-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.101) question?
Stock # R0491 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 126456724-126474974 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 126464093 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 73 (R73*)
Ref Sequence ENSEMBL: ENSMUSP00000115996 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034313] [ENSMUST00000065135] [ENSMUST00000143504] [ENSMUST00000152189]
AlphaFold Q9CQA9
Predicted Effect probably null
Transcript: ENSMUST00000034313
AA Change: R77*
SMART Domains Protein: ENSMUSP00000034313
Gene: ENSMUSG00000031851
AA Change: R77*

DomainStartEndE-ValueType
AAA 1 170 2.61e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000065135
AA Change: R77*
SMART Domains Protein: ENSMUSP00000069384
Gene: ENSMUSG00000031851
AA Change: R77*

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

DomainStartEndE-ValueType
Pfam:NTPase_1 56 145 5.4e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146055
Predicted Effect probably null
Transcript: ENSMUST00000152189
AA Change: R73*
SMART Domains Protein: ENSMUSP00000115996
Gene: ENSMUSG00000031851
AA Change: R73*

DomainStartEndE-ValueType
Pfam:NTPase_1 6 178 3.2e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151172
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency 100% (65/65)
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,248,235 (GRCm39) F2661L probably benign Het
Acadsb A G 7: 131,031,836 (GRCm39) D224G probably benign Het
Acsm1 A G 7: 119,239,920 (GRCm39) H288R probably damaging Het
Adamts2 A G 11: 50,667,457 (GRCm39) D465G probably damaging Het
Akap9 A T 5: 4,022,851 (GRCm39) probably benign Het
Alms1 A G 6: 85,679,582 (GRCm39) T3240A probably damaging Het
Ap3d1 A G 10: 80,555,075 (GRCm39) W417R probably damaging Het
Arfgef1 C A 1: 10,250,212 (GRCm39) probably benign Het
Atf6 A G 1: 170,614,913 (GRCm39) probably null Het
Cacna1s T A 1: 136,016,746 (GRCm39) probably benign Het
Clcn1 T C 6: 42,287,515 (GRCm39) F740L probably benign Het
Clec12a T A 6: 129,341,016 (GRCm39) D265E probably benign Het
Clic3 T A 2: 25,347,797 (GRCm39) probably benign Het
Cntnap3 T G 13: 64,909,859 (GRCm39) T749P probably benign Het
Col11a2 T A 17: 34,261,186 (GRCm39) D45E probably null Het
Cplane1 T A 15: 8,211,727 (GRCm39) S356T probably damaging Het
Crxos T A 7: 15,632,460 (GRCm39) S89T probably benign Het
Cxcr1 G T 1: 74,231,468 (GRCm39) P185T possibly damaging Het
Cyp20a1 T A 1: 60,410,486 (GRCm39) N262K possibly damaging Het
Dennd2b T A 7: 109,156,411 (GRCm39) Q113L probably benign Het
Dpy19l2 T C 9: 24,607,324 (GRCm39) R46G probably benign Het
Dpysl2 A T 14: 67,045,411 (GRCm39) L454Q probably damaging Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Eppin T A 2: 164,431,332 (GRCm39) E98V possibly damaging Het
Fancm A T 12: 65,152,835 (GRCm39) H1097L probably benign Het
Fkbp4 A G 6: 128,412,705 (GRCm39) I75T probably damaging Het
Fmn2 A G 1: 174,409,525 (GRCm39) H586R unknown Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Haus6 A C 4: 86,521,083 (GRCm39) V185G possibly damaging Het
Herc2 T A 7: 55,772,114 (GRCm39) C1098S possibly damaging Het
Hic1 C A 11: 75,057,136 (GRCm39) L584F possibly damaging Het
Itgb1bp1 C A 12: 21,326,896 (GRCm39) probably benign Het
Kbtbd2 G A 6: 56,757,374 (GRCm39) R121* probably null Het
Lgr4 C T 2: 109,837,626 (GRCm39) probably benign Het
Lrrc55 T C 2: 85,022,264 (GRCm39) E309G probably damaging Het
Mertk T C 2: 128,635,027 (GRCm39) probably null Het
Micu3 A G 8: 40,819,294 (GRCm39) probably benign Het
Mmp11 G A 10: 75,762,592 (GRCm39) A287V probably benign Het
Mpzl2 A G 9: 44,954,039 (GRCm39) Y47C probably damaging Het
Muc5b A C 7: 141,415,752 (GRCm39) R2899S probably benign Het
Myo1b A G 1: 51,794,857 (GRCm39) Y1078H probably benign Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Ncapd3 T G 9: 26,969,179 (GRCm39) V611G probably damaging Het
Or4c120 A T 2: 89,000,704 (GRCm39) V284E probably benign Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Osbp2 A G 11: 3,664,709 (GRCm39) F88S probably damaging Het
Pkn3 A T 2: 29,979,889 (GRCm39) T711S probably damaging Het
Plekhm1 T C 11: 103,285,602 (GRCm39) K278E probably benign Het
Ppp1r36 A G 12: 76,486,065 (GRCm39) T408A probably benign Het
Prss41 T C 17: 24,061,477 (GRCm39) T105A possibly damaging Het
Psme1 G T 14: 55,817,378 (GRCm39) probably benign Het
Ptprq A T 10: 107,444,036 (GRCm39) Y1523N probably damaging Het
Ric8b A G 10: 84,828,086 (GRCm39) D470G probably damaging Het
Scarb1 A G 5: 125,375,795 (GRCm39) probably benign Het
Slc25a54 G A 3: 109,010,112 (GRCm39) A204T probably damaging Het
Spink10 T C 18: 62,793,036 (GRCm39) C67R probably damaging Het
Tmtc1 A T 6: 148,314,138 (GRCm39) probably null Het
Tprkb A G 6: 85,901,446 (GRCm39) D28G probably benign Het
Ttll13 A G 7: 79,910,098 (GRCm39) H747R probably benign Het
Usp24 A G 4: 106,259,302 (GRCm39) S1608G probably benign Het
Utp20 A T 10: 88,596,774 (GRCm39) F2115L probably damaging Het
Vmn1r200 A T 13: 22,579,361 (GRCm39) I46L probably benign Het
Zdhhc8 A T 16: 18,046,254 (GRCm39) M103K probably damaging Het
Zfp595 C T 13: 67,465,369 (GRCm39) G298E probably damaging Het
Zfp738 T G 13: 67,818,140 (GRCm39) H617P possibly damaging Het
Zfp9 A T 6: 118,442,163 (GRCm39) H166Q probably damaging Het
Zp3r C A 1: 130,546,071 (GRCm39) D80Y probably damaging Het
Other mutations in Ntpcr
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00971:Ntpcr APN 8 126,474,501 (GRCm39) missense probably damaging 0.98
IGL01582:Ntpcr APN 8 126,471,981 (GRCm39) missense probably benign 0.11
IGL01862:Ntpcr APN 8 126,462,837 (GRCm39) missense probably benign 0.14
IGL02045:Ntpcr APN 8 126,472,191 (GRCm39) splice site probably benign
IGL02077:Ntpcr APN 8 126,464,107 (GRCm39) nonsense probably null
R0988:Ntpcr UTSW 8 126,464,170 (GRCm39) splice site probably benign
R1781:Ntpcr UTSW 8 126,472,141 (GRCm39) missense probably damaging 1.00
R2412:Ntpcr UTSW 8 126,472,144 (GRCm39) missense probably damaging 1.00
R3838:Ntpcr UTSW 8 126,464,111 (GRCm39) missense probably damaging 1.00
R4453:Ntpcr UTSW 8 126,462,929 (GRCm39) missense probably benign 0.14
R6126:Ntpcr UTSW 8 126,462,626 (GRCm39) critical splice donor site probably null
R6440:Ntpcr UTSW 8 126,471,981 (GRCm39) missense probably damaging 0.97
R6463:Ntpcr UTSW 8 126,462,843 (GRCm39) missense probably benign 0.02
R7102:Ntpcr UTSW 8 126,456,794 (GRCm39) missense unknown
R7910:Ntpcr UTSW 8 126,474,483 (GRCm39) missense probably benign
R8230:Ntpcr UTSW 8 126,464,159 (GRCm39) critical splice donor site probably null
R8732:Ntpcr UTSW 8 126,472,074 (GRCm39) missense probably benign
R8876:Ntpcr UTSW 8 126,464,785 (GRCm39) intron probably benign
X0024:Ntpcr UTSW 8 126,472,165 (GRCm39) missense probably damaging 0.99
X0025:Ntpcr UTSW 8 126,472,054 (GRCm39) missense probably damaging 1.00
Z1177:Ntpcr UTSW 8 126,472,023 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- TCAGGAGAGAAACCACAGTGAGTCC -3'
(R):5'- CCTATCCTTAGCAAGGTTCAGTGGC -3'

Sequencing Primer
(F):5'- AGTGAGTCCAACCTTGTACAC -3'
(R):5'- CAGTGGCTAGAAGACTTTTTAAACC -3'
Posted On 2013-05-23