Incidental Mutation 'R2430:Nudt15'
ID 266175
Institutional Source Beutler Lab
Gene Symbol Nudt15
Ensembl Gene ENSMUSG00000033405
Gene Name nudix hydrolase 15
Synonyms A730068G11Rik, nudix (nucleoside diphosphate linked moiety X)-type motif 15, MTH2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.092) question?
Stock # R2430 (G1)
Quality Score 147
Status Not validated
Chromosome 14
Chromosomal Location 73756320-73785682 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to T at 73762742 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043813] [ENSMUST00000162691]
AlphaFold Q8BG93
Predicted Effect probably benign
Transcript: ENSMUST00000043813
SMART Domains Protein: ENSMUSP00000039537
Gene: ENSMUSG00000033405

DomainStartEndE-ValueType
Pfam:NUDIX 11 142 1.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162691
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226903
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that belongs to the Nudix hydrolase superfamily. Members of this superfamily catalyze the hydrolysis of nucleoside diphosphates, including substrates like 8-oxo-dGTP, which are a result of oxidative damage, and can induce base mispairing during DNA replication, causing transversions. The encoded enzyme is a negative regulator of thiopurine activation and toxicity. Mutations in this gene result in poor metabolism of thiopurines, and are associated with thiopurine-induced early leukopenia. Multiple pseudogenes of this gene have been identified. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arc T C 15: 74,543,740 (GRCm39) E161G probably benign Het
Ass1 A G 2: 31,391,508 (GRCm39) H261R probably damaging Het
Car11 T A 7: 45,353,072 (GRCm39) probably null Het
Crebbp T C 16: 3,914,329 (GRCm39) H844R probably damaging Het
Dnai2 A G 11: 114,648,012 (GRCm39) probably benign Het
Eya2 T C 2: 165,558,050 (GRCm39) probably null Het
Klhl40 A G 9: 121,609,667 (GRCm39) D484G possibly damaging Het
Knstrn A G 2: 118,664,584 (GRCm39) probably benign Het
Nckap5 A G 1: 125,842,494 (GRCm39) S1838P probably damaging Het
Nipsnap2 A G 5: 129,821,855 (GRCm39) D117G possibly damaging Het
Or5w16 T A 2: 87,576,999 (GRCm39) M153K possibly damaging Het
Or8k35 A G 2: 86,425,052 (GRCm39) I40T probably benign Het
Pcdh20 T C 14: 88,704,984 (GRCm39) D772G probably damaging Het
Pdss1 T A 2: 22,819,605 (GRCm39) Y289* probably null Het
Phc2 A T 4: 128,601,776 (GRCm39) Y77F probably damaging Het
Ppip5k2 A T 1: 97,662,755 (GRCm39) Y667N probably damaging Het
Prdm2 A G 4: 142,859,733 (GRCm39) S1186P possibly damaging Het
Prr36 A T 8: 4,263,488 (GRCm39) probably benign Het
Reck C T 4: 43,930,202 (GRCm39) T592I possibly damaging Het
Rprd2 T A 3: 95,672,107 (GRCm39) K1015* probably null Het
Tfrc T G 16: 32,445,529 (GRCm39) Y617D probably damaging Het
Tnfsf11 A C 14: 78,521,752 (GRCm39) D152E probably benign Het
Vmn2r54 T A 7: 12,365,933 (GRCm39) I334F probably damaging Het
Other mutations in Nudt15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01728:Nudt15 APN 14 73,760,736 (GRCm39) critical splice donor site probably null
R0355:Nudt15 UTSW 14 73,760,824 (GRCm39) missense probably damaging 1.00
R1711:Nudt15 UTSW 14 73,760,776 (GRCm39) missense probably benign
R1763:Nudt15 UTSW 14 73,759,087 (GRCm39) missense probably benign 0.44
R3846:Nudt15 UTSW 14 73,760,911 (GRCm39) missense probably benign 0.01
R8132:Nudt15 UTSW 14 73,759,099 (GRCm39) missense probably benign 0.17
R9545:Nudt15 UTSW 14 73,760,918 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-05