Incidental Mutation 'D4043:Nadk2'
ID 267
Institutional Source Beutler Lab
Gene Symbol Nadk2
Ensembl Gene ENSMUSG00000022253
Gene Name NAD kinase 2, mitochondrial
Synonyms 1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # D4043 (G3) of strain 483
Quality Score
Status Validated
Chromosome 15
Chromosomal Location 9071340-9110584 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 9103473 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000100789] [ENSMUST00000100790] [ENSMUST00000188194]
AlphaFold Q8C5H8
Predicted Effect probably benign
Transcript: ENSMUST00000067760
SMART Domains Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 334 4.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100789
SMART Domains Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 171 8.2e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100790
SMART Domains Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253

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
Coding Region Coverage
  • 1x: 88.8%
  • 3x: 72.5%
Validation Efficiency 88% (220/249)
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 56,325,496 (GRCm39) C319* probably null Het
Adgrg1 T C 8: 95,731,857 (GRCm39) probably null Homo
Ago3 A T 4: 126,244,796 (GRCm39) V630E probably damaging Het
Armc8 G T 9: 99,366,029 (GRCm39) N628K probably benign Het
Cfap96 A G 8: 46,409,440 (GRCm39) V293A probably damaging Het
Chd7 A G 4: 8,862,650 (GRCm39) D2579G probably damaging Het
Duox1 G A 2: 122,175,276 (GRCm39) C1358Y probably benign Het
Ftsj3 C A 11: 106,145,634 (GRCm39) M66I possibly damaging Homo
Iqub C T 6: 24,505,750 (GRCm39) E53K possibly damaging Het
Kirrel1 T A 3: 86,990,510 (GRCm39) T771S probably benign Het
Lrrc66 A T 5: 73,764,869 (GRCm39) S725T probably benign Het
Mael T C 1: 166,064,455 (GRCm39) I104M probably benign Homo
Mkks C T 2: 136,716,530 (GRCm39) V457I probably benign Het
Npas1 T C 7: 16,197,169 (GRCm39) probably null Het
Ocrl T C X: 47,025,200 (GRCm39) V359A probably benign Homo
Or8k27 G A 2: 86,275,564 (GRCm39) T254M probably damaging Het
Pde6b C T 5: 108,573,222 (GRCm39) R531* probably null Het
Polr1a G A 6: 71,918,401 (GRCm39) C653Y possibly damaging Het
Rbm26 A G 14: 105,389,976 (GRCm39) V216A possibly damaging Het
Rin2 C A 2: 145,664,283 (GRCm39) H52Q possibly damaging Het
Ssc5d C T 7: 4,946,982 (GRCm39) T1112I possibly damaging Het
Sv2c C T 13: 96,224,989 (GRCm39) V107M probably benign Het
Tasor A G 14: 27,193,949 (GRCm39) I1050V probably benign Het
Tulp3 G A 6: 128,301,113 (GRCm39) S366L probably benign Het
Zfp831 T A 2: 174,487,059 (GRCm39) V578E probably benign Homo
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
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
R1159:Nadk2 UTSW 15 9,106,925 (GRCm39) missense possibly damaging 0.86
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
Nature of Mutation

DNA sequencing using the SOLiD technique identified a T to A transversion at base pair 9033142 in the Genbank genomic region NC_000081 (Build 37.1) for the 1110020G09Rik gene on Chromosome 7 (GTTGGTACCA ->GTTGGAACCA). The mutation is located within intron 6 from the ATG exon, six nucleotides from the previous exon. The 1110020G09Rik gene contains 13 total exons, and 11 coding exons. Three transcripts of the 1110020G09Rik gene are displayed on Ensembl. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

 
Protein Function and Prediction
The 1110020G09Rikgene encodes multiple isoforms of a protein that is a member of the UPF0465 family of ATP-NAD kinases. These proteins catalyze the phosphorylation of NAD to NADP utilizing ATP and other nucleoside triphosphates as well as inorganic polyphosphate as a source of phosphorus. The longest isoform is 452 amino acids long (Uniprot Q8C5H8).
Posted On 2010-08-13