Incidental Mutation 'R2354:Nadk2'
ID 246843
Institutional Source Beutler Lab
Gene Symbol Nadk2
Ensembl Gene ENSMUSG00000022253
Gene Name NAD kinase 2, mitochondrial
Synonyms 1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik
MMRRC Submission 040336-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2354 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 9071340-9110584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 9085862 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 167 (I167N)
Ref Sequence ENSEMBL: ENSMUSP00000098353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000100789] [ENSMUST00000100790]
AlphaFold Q8C5H8
Predicted Effect probably damaging
Transcript: ENSMUST00000067760
AA Change: I167N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: I167N

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 334 4.7e-11 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100789
AA Change: I167N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
AA Change: I167N

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 171 8.2e-10 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000100790
AA Change: I167N

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: I167N

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 312 3.9e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228397
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227682
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency 97% (34/35)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Bpifb9b C T 2: 154,153,662 (GRCm39) L243F probably benign Het
Cd226 A T 18: 89,265,107 (GRCm39) probably null Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cep295 A G 9: 15,246,080 (GRCm39) I792T possibly damaging Het
Cfap46 T C 7: 139,240,962 (GRCm39) Y469C probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
D630045J12Rik G A 6: 38,135,026 (GRCm39) P1385S possibly damaging Het
Ddb1 A T 19: 10,584,337 (GRCm39) M64L probably benign Het
Dyrk1b G A 7: 27,884,797 (GRCm39) R404Q possibly damaging Het
Gal3st2b A G 1: 93,867,508 (GRCm39) T52A probably damaging Het
Galk2 C A 2: 125,773,193 (GRCm39) S208R probably benign Het
Hap1 A T 11: 100,245,541 (GRCm39) I141N probably damaging Het
Hif3a T C 7: 16,775,030 (GRCm39) S523G probably damaging Het
Kirrel1 C T 3: 86,995,792 (GRCm39) V381I probably damaging Het
Lmbrd1 T C 1: 24,724,622 (GRCm39) S69P probably damaging Het
Lrriq1 C T 10: 103,025,848 (GRCm39) V925M probably damaging Het
Mmp16 A G 4: 18,112,001 (GRCm39) Y459C probably damaging Het
Mtr A G 13: 12,203,043 (GRCm39) probably benign Het
Neo1 A G 9: 58,892,917 (GRCm39) F242L probably benign Het
Pitpnm2 A T 5: 124,260,982 (GRCm39) V1010E probably damaging Het
Prp2rt G A 13: 97,235,309 (GRCm39) T146I probably damaging Het
Semp2l2b G T 10: 21,943,155 (GRCm39) T275K probably benign Het
Shox2 A G 3: 66,888,822 (GRCm39) I23T possibly damaging Het
Slc5a12 T C 2: 110,439,777 (GRCm39) V141A probably damaging Het
Sstr5 A G 17: 25,710,875 (GRCm39) I118T probably benign Het
Taar4 A G 10: 23,836,912 (GRCm39) N174S probably damaging Het
Tpcn2 C A 7: 144,810,955 (GRCm39) G581W probably damaging Het
Umod C T 7: 119,065,416 (GRCm39) V538M probably damaging Het
Vmn2r44 T G 7: 8,373,639 (GRCm39) S517R probably damaging Het
Zc3h12d G T 10: 7,743,702 (GRCm39) V491L probably benign Het
Zfp358 A T 8: 3,545,454 (GRCm39) H12L possibly damaging Het
Zkscan7 A G 9: 122,723,892 (GRCm39) D287G probably benign 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
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
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 PCR Primer
(F):5'- GGCTCAGCACAGTACAACAG -3'
(R):5'- ACAGAGCCTACGTCATGAGC -3'

Sequencing Primer
(F):5'- TCAGCACAGTACAACAGGCATAGG -3'
(R):5'- GAGCCTACGTCATGAGCACCAG -3'
Posted On 2014-10-30