Incidental Mutation 'R1159:Nadk2'
ID 101995
Institutional Source Beutler Lab
Gene Symbol Nadk2
Ensembl Gene ENSMUSG00000022253
Gene Name NAD kinase 2, mitochondrial
Synonyms 1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik
MMRRC Submission 039232-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1159 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 9071340-9110584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 9106925 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 351 (R351H)
Ref Sequence ENSEMBL: ENSMUSP00000098353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000100789] [ENSMUST00000100790] [ENSMUST00000188194]
AlphaFold Q8C5H8
Predicted Effect possibly damaging
Transcript: ENSMUST00000067760
AA Change: R402H

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: R402H

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 334 4.7e-11 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100789
AA Change: R351H

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
AA Change: R351H

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 171 8.2e-10 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000100790
AA Change: R380H

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: R380H

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 312 3.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186069
Predicted Effect probably benign
Transcript: ENSMUST00000188194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227928
Meta Mutation Damage Score 0.1276 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 91.8%
Validation Efficiency 100% (42/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Mice homozygous for knock-out allele exhibit increased serum lysine and carnitine levels, develop increased reactive oxygen species levels and hepatic steatosis on an atherogenic high-fat diet, and show impaired fasting-induced fatty acid oxidation. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass G A 6: 23,115,137 (GRCm39) H164Y probably damaging Het
Acss2 T C 2: 155,393,138 (GRCm39) I288T probably benign Het
Akap9 C T 5: 4,010,865 (GRCm39) R541C probably damaging Het
Ano5 T C 7: 51,229,222 (GRCm39) probably benign Het
Anp32b T C 4: 46,471,478 (GRCm39) probably benign Het
Avil T C 10: 126,847,659 (GRCm39) V528A possibly damaging Het
Cacna1c C T 6: 118,589,586 (GRCm39) R1446H probably damaging Het
Cdk10 T C 8: 123,955,062 (GRCm39) probably benign Het
Cfap65 A T 1: 74,968,499 (GRCm39) F111Y probably damaging Het
Cryge A G 1: 65,089,967 (GRCm39) F72L probably benign Het
Ercc3 C T 18: 32,397,611 (GRCm39) T614I possibly damaging Het
Fgd5 T C 6: 91,965,483 (GRCm39) I572T probably benign Het
Fubp1 A G 3: 151,921,229 (GRCm39) D88G possibly damaging Het
Gcnt1 C A 19: 17,307,168 (GRCm39) V186F possibly damaging Het
Gldc A T 19: 30,138,162 (GRCm39) probably benign Het
Gxylt2 A G 6: 100,781,602 (GRCm39) M426V possibly damaging Het
Hps5 A T 7: 46,421,978 (GRCm39) probably null Het
Igf2bp2 G A 16: 21,880,603 (GRCm39) probably benign Het
Lamb2 T C 9: 108,358,607 (GRCm39) S215P probably damaging Het
Mfsd13b T C 7: 120,613,766 (GRCm39) M421T probably damaging Het
Mtif2 C A 11: 29,490,729 (GRCm39) R478S possibly damaging Het
Nt5dc1 T C 10: 34,274,169 (GRCm39) D167G possibly damaging Het
Nup98 T A 7: 101,809,923 (GRCm39) T536S probably damaging Het
Parp14 G A 16: 35,677,130 (GRCm39) A946V probably benign Het
Ppig T A 2: 69,580,568 (GRCm39) S701T unknown Het
Pramel17 T C 4: 101,695,224 (GRCm39) E29G possibly damaging Het
Ptprc A G 1: 138,000,057 (GRCm39) S830P probably damaging Het
Rev3l T A 10: 39,727,921 (GRCm39) L2690* probably null Het
Rgs22 A T 15: 36,040,839 (GRCm39) S883T probably damaging Het
Rxfp4 A G 3: 88,559,894 (GRCm39) W186R probably damaging Het
Sacm1l T C 9: 123,395,476 (GRCm39) S200P probably benign Het
Serpinb6d T A 13: 33,855,212 (GRCm39) D295E probably damaging Het
Slc38a10 A G 11: 119,996,301 (GRCm39) V932A probably benign Het
Top2b T C 14: 16,430,329 (GRCm38) S1568P possibly damaging Het
Tox T G 4: 6,697,600 (GRCm39) N401T probably benign Het
Trim24 T C 6: 37,933,412 (GRCm39) probably null Het
Unc79 T G 12: 103,013,311 (GRCm39) probably benign Het
Vmn2r66 A T 7: 84,644,613 (GRCm39) I599N probably benign Het
Zfa-ps T A 10: 52,419,654 (GRCm39) noncoding transcript Het
Other mutations in Nadk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Nadk2 APN 15 9,103,072 (GRCm39) missense probably damaging 1.00
tabak UTSW 15 9,108,342 (GRCm39) missense probably damaging 0.99
D4043:Nadk2 UTSW 15 9,103,473 (GRCm39) splice site probably benign
PIT4131001:Nadk2 UTSW 15 9,100,232 (GRCm39) frame shift probably null
PIT4142001:Nadk2 UTSW 15 9,100,232 (GRCm39) frame shift probably null
R0347:Nadk2 UTSW 15 9,084,287 (GRCm39) missense probably benign 0.08
R0838:Nadk2 UTSW 15 9,091,322 (GRCm39) missense probably benign 0.00
R0988:Nadk2 UTSW 15 9,103,080 (GRCm39) missense probably damaging 0.99
R1014:Nadk2 UTSW 15 9,091,334 (GRCm39) missense probably damaging 1.00
R1387:Nadk2 UTSW 15 9,106,870 (GRCm39) missense possibly damaging 0.68
R1861:Nadk2 UTSW 15 9,108,399 (GRCm39) missense probably benign 0.21
R1886:Nadk2 UTSW 15 9,103,446 (GRCm39) missense possibly damaging 0.87
R2354:Nadk2 UTSW 15 9,085,862 (GRCm39) missense probably damaging 1.00
R3623:Nadk2 UTSW 15 9,084,303 (GRCm39) missense probably damaging 1.00
R3624:Nadk2 UTSW 15 9,084,303 (GRCm39) missense probably damaging 1.00
R4642:Nadk2 UTSW 15 9,092,810 (GRCm39) missense possibly damaging 0.64
R4867:Nadk2 UTSW 15 9,098,946 (GRCm39) missense possibly damaging 0.84
R5314:Nadk2 UTSW 15 9,108,401 (GRCm39) missense probably benign 0.04
R7214:Nadk2 UTSW 15 9,108,342 (GRCm39) missense probably damaging 0.99
R7244:Nadk2 UTSW 15 9,083,271 (GRCm39) splice site probably null
R7310:Nadk2 UTSW 15 9,103,469 (GRCm39) critical splice donor site probably null
R7634:Nadk2 UTSW 15 9,092,935 (GRCm39) missense probably benign 0.41
R8310:Nadk2 UTSW 15 9,103,420 (GRCm39) missense probably benign
R8424:Nadk2 UTSW 15 9,083,414 (GRCm39) missense possibly damaging 0.92
R9265:Nadk2 UTSW 15 9,071,774 (GRCm39) missense probably damaging 1.00
R9658:Nadk2 UTSW 15 9,103,449 (GRCm39) nonsense probably null
R9746:Nadk2 UTSW 15 9,106,824 (GRCm39) nonsense probably null
Predicted Primers
Posted On 2014-01-15