Incidental Mutation 'R1014:Nadk2'
ID 96044
Institutional Source Beutler Lab
Gene Symbol Nadk2
Ensembl Gene ENSMUSG00000022253
Gene Name NAD kinase 2, mitochondrial
Synonyms 1110020G09Rik, Nadkd1, MNADK, 4933430B08Rik
MMRRC Submission 039118-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1014 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 9071340-9110584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9091334 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 202 (F202L)
Ref Sequence ENSEMBL: ENSMUSP00000098354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000100789] [ENSMUST00000100790]
AlphaFold Q8C5H8
Predicted Effect probably damaging
Transcript: ENSMUST00000067760
AA Change: F202L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: F202L

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 damaging
Transcript: ENSMUST00000100790
AA Change: F202L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: F202L

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228453
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.8%
Validation Efficiency
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ago4 T C 4: 126,400,578 (GRCm39) R712G probably damaging Het
Arg1 C A 10: 24,792,758 (GRCm39) V159L probably benign Het
Caap1 C T 4: 94,437,383 (GRCm39) C193Y probably benign Het
Cdh12 A T 15: 21,492,706 (GRCm39) M242L probably damaging Het
Col19a1 A T 1: 24,340,354 (GRCm39) probably null Het
Cul7 T A 17: 46,974,116 (GRCm39) L1467H probably damaging Het
D430041D05Rik T C 2: 104,088,674 (GRCm39) T101A possibly damaging Het
Dll4 T C 2: 119,161,638 (GRCm39) C407R probably damaging Het
Ebf4 T C 2: 130,207,388 (GRCm39) S484P probably benign Het
Gm10300 A G 4: 131,802,023 (GRCm39) probably benign Het
Lyst T C 13: 13,808,645 (GRCm39) I105T possibly damaging Het
Mrgprx2 A G 7: 48,132,306 (GRCm39) probably null Het
Musk T C 4: 58,354,156 (GRCm39) L403P possibly damaging Het
Myh11 T C 16: 14,054,274 (GRCm39) K363R possibly damaging Het
Nfix G A 8: 85,453,155 (GRCm39) R300C probably damaging Het
Nup210l C T 3: 90,077,355 (GRCm39) T897M possibly damaging Het
Or52h9 T C 7: 104,202,383 (GRCm39) W86R probably damaging Het
Pcdh17 A G 14: 84,684,928 (GRCm39) D465G probably damaging Het
Pcdhb11 T A 18: 37,556,422 (GRCm39) L584Q probably damaging Het
Pcdhb5 T C 18: 37,455,303 (GRCm39) L561P probably damaging Het
Pck2 A G 14: 55,779,867 (GRCm39) S12G probably benign Het
Pcsk1 A G 13: 75,280,353 (GRCm39) D726G probably damaging Het
Pcsk5 G T 19: 17,542,194 (GRCm39) A799E probably damaging Het
Pkp3 A G 7: 140,662,739 (GRCm39) Y117C probably benign Het
Poldip2 T A 11: 78,405,988 (GRCm39) D106E probably damaging Het
Ppm1d C A 11: 85,227,980 (GRCm39) H299N probably damaging Het
Ptprz1 A G 6: 23,000,643 (GRCm39) Y911C probably damaging Het
Rims4 C T 2: 163,705,849 (GRCm39) V262M possibly damaging Het
Rtf1 T G 2: 119,550,727 (GRCm39) S329A possibly damaging Het
Slc12a2 T C 18: 58,054,882 (GRCm39) I841T probably benign Het
Slc2a3 T C 6: 122,708,525 (GRCm39) I367V possibly damaging Het
Slc30a8 A G 15: 52,194,993 (GRCm39) T251A probably damaging Het
Spryd3 T A 15: 102,041,966 (GRCm39) N19Y probably damaging Het
Tll2 A T 19: 41,092,290 (GRCm39) Y516N probably damaging Het
Tlr5 G A 1: 182,803,242 (GRCm39) G849R probably benign Het
Wdr64 A G 1: 175,583,192 (GRCm39) E376G probably damaging Het
Zfp318 GAA GAANAA 17: 46,723,462 (GRCm39) probably null 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
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
Predicted Primers PCR Primer
(F):5'- GACGTATTAAGGCTGACTGTGGACC -3'
(R):5'- GCCAAGTAACATTTGTCCCGTCCTC -3'

Sequencing Primer
(F):5'- TTGAAAGTACAGACAATTCCAGGC -3'
(R):5'- TAGTTCTAACTGAACTAGGAGAAGG -3'
Posted On 2014-01-05