Incidental Mutation 'R9658:Nadk2'
ID 735565
Institutional Source Beutler Lab
Gene Symbol Nadk2
Ensembl Gene ENSMUSG00000022253
Gene Name NAD kinase 2, mitochondrial
Synonyms 4933430B08Rik, 1110020G09Rik, MNADK, Nadkd1
MMRRC Submission
Accession Numbers

Genbank: NM_001040395; MGI: 1915896

 
Essential gene? Essential (E-score: 1.000) question?
Stock # R9658 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 9071260-9110891 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 9103361 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 360 (K360*)
Ref Sequence ENSEMBL: ENSMUSP00000068318 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000100789] [ENSMUST00000100790] [ENSMUST00000188194]
AlphaFold Q8C5H8
Predicted Effect probably null
Transcript: ENSMUST00000067760
AA Change: K360*
SMART Domains Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: K360*

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 334 4.7e-11 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000100789
AA Change: K309*
SMART Domains Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
AA Change: K309*

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 171 8.2e-10 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000100790
AA Change: K338*
SMART Domains Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: K338*

DomainStartEndE-ValueType
low complexity region 13 33 N/A INTRINSIC
Pfam:NAD_kinase 58 312 3.9e-12 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000188194
AA Change: Q28L
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.4%
  • 20x: 98.7%
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503L19Rik C T 18: 70,467,330 probably null Het
Abca12 T C 1: 71,286,475 I1521M probably damaging Het
Abcc3 A G 11: 94,372,877 S268P possibly damaging Het
Adamts20 G C 15: 94,351,745 P464A probably damaging Het
Apoa1 C A 9: 46,229,982 D125E probably benign Het
Atp6v0a1 C A 11: 101,018,588 Q48K probably benign Het
Bptf T C 11: 107,111,344 N314S probably damaging Het
Cdh7 T C 1: 110,061,055 V229A probably damaging Het
Cfap46 G A 7: 139,666,313 T378M Het
Clca3b T A 3: 144,837,814 D418V probably damaging Het
Dennd4c T A 4: 86,836,388 L1545* probably null Het
Dnajc13 A G 9: 104,238,529 V27A probably benign Het
Eif2ak2 A T 17: 78,876,203 D72E probably benign Het
Eif2ak4 T C 2: 118,439,030 I862T probably damaging Het
Eif4g1 T C 16: 20,684,113 I1022T probably benign Het
Enpp3 A T 10: 24,773,904 *875R probably null Het
F11 T C 8: 45,245,634 Y491C probably damaging Het
Fam155a T C 8: 9,770,114 D302G probably benign Het
Fam98c A C 7: 29,152,781 W118G probably damaging Het
Fbxo43 A T 15: 36,152,136 L509Q probably damaging Het
Fbxw5 A G 2: 25,503,858 H366R probably damaging Het
Flt1 G T 5: 147,588,567 N920K probably damaging Het
Git1 T A 11: 77,499,755 F106I probably damaging Het
Glipr1l2 A G 10: 112,106,963 E241G probably damaging Het
Gm11639 A G 11: 104,720,294 K321E probably benign Het
Gm2381 A C 7: 42,820,305 C132G probably damaging Het
Gm49383 A G 12: 69,192,854 I237T Het
Gm7324 T A 14: 43,714,825 D308E probably benign Het
Gpr17 A G 18: 31,947,368 L214P probably damaging Het
Gtf3c1 A T 7: 125,707,562 L39Q probably damaging Het
H2-Q6 C T 17: 35,425,209 R56C probably damaging Het
Hcar2 T C 5: 123,864,469 T324A possibly damaging Het
Ksr2 T C 5: 117,747,360 S750P probably damaging Het
Lipi C A 16: 75,560,801 R292L probably benign Het
Map4k3 C A 17: 80,653,877 M133I probably benign Het
Marf1 A T 16: 14,140,223 L805Q probably damaging Het
Mccc2 T A 13: 99,954,246 R460W probably damaging Het
Mgam A G 6: 40,744,377 D312G possibly damaging Het
Nars2 A G 7: 97,039,971 I367V probably benign Het
Nppb T C 4: 147,986,494 S109P possibly damaging Het
Odf2 G A 2: 29,889,801 R15Q probably benign Het
Olfr1312 C A 2: 112,042,478 A185S probably damaging Het
Olfr209 A T 16: 59,361,743 H158Q probably damaging Het
Olfr630 C T 7: 103,754,821 V255M probably damaging Het
Osbpl1a A T 18: 12,756,212 I949N probably benign Het
Pan3 T C 5: 147,543,071 F55L probably benign Het
Patj A G 4: 98,465,140 D640G probably null Het
Pdxk T C 10: 78,451,569 K53E probably benign Het
Pja2 A G 17: 64,292,873 S539P probably damaging Het
Plscr1 T A 9: 92,266,482 C158* probably null Het
Prdm14 T C 1: 13,118,921 T400A probably benign Het
Rag1 C T 2: 101,642,884 V638M possibly damaging Het
Ros1 A G 10: 52,090,973 S1734P probably damaging Het
S100a9 T C 3: 90,692,774 H105R unknown Het
Shisa9 A T 16: 12,244,656 Q247L possibly damaging Het
Slc14a1 C A 18: 78,109,592 A367S probably damaging Het
Slc27a4 G A 2: 29,811,289 R364Q probably damaging Het
Spag17 C T 3: 100,027,616 P713S possibly damaging Het
Tbc1d4 T A 14: 101,608,420 H14L probably damaging Het
Tmem144 T A 3: 79,822,684 Y253F probably damaging Het
Tmem204 C T 17: 25,080,348 G66R possibly damaging Het
Tnfrsf1b A T 4: 145,215,854 V453E probably damaging Het
Tns1 G C 1: 73,942,023 Q1061E probably benign Het
Tns1 G T 1: 73,942,024 N1060K probably benign Het
Trav5-1 A G 14: 52,622,971 K78E probably benign Het
Ttn C T 2: 76,885,013 E7912K unknown Het
Usp17lc G A 7: 103,418,182 G228D possibly damaging Het
Uvssa T C 5: 33,410,989 C574R probably damaging Het
Veph1 G A 3: 66,264,013 Q3* probably null Het
Vps13b T A 15: 35,623,628 D1230E probably benign Het
Xkr9 T A 1: 13,701,094 I278N probably damaging Het
Zbed4 C A 15: 88,780,539 A270E probably benign Het
Zfp366 A T 13: 99,228,927 T199S probably benign Het
Other mutations in Nadk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01420:Nadk2 APN 15 9102984 missense probably damaging 1.00
tabak UTSW 15 9108254 missense probably damaging 0.99
PIT4131001:Nadk2 UTSW 15 9100143 frame shift probably null
PIT4142001:Nadk2 UTSW 15 9100143 frame shift probably null
R0347:Nadk2 UTSW 15 9084207 missense probably benign 0.08
R0838:Nadk2 UTSW 15 9091242 missense probably benign 0.00
R0988:Nadk2 UTSW 15 9102992 missense probably damaging 0.99
R1014:Nadk2 UTSW 15 9091254 missense probably damaging 1.00
R1159:Nadk2 UTSW 15 9106837 missense possibly damaging 0.86
R1387:Nadk2 UTSW 15 9106782 missense possibly damaging 0.68
R1861:Nadk2 UTSW 15 9108311 missense probably benign 0.21
R1886:Nadk2 UTSW 15 9103358 missense possibly damaging 0.87
R2354:Nadk2 UTSW 15 9085782 missense probably damaging 1.00
R3623:Nadk2 UTSW 15 9084223 missense probably damaging 1.00
R3624:Nadk2 UTSW 15 9084223 missense probably damaging 1.00
R4642:Nadk2 UTSW 15 9092721 missense possibly damaging 0.64
R4867:Nadk2 UTSW 15 9098857 missense possibly damaging 0.84
R5314:Nadk2 UTSW 15 9108313 missense probably benign 0.04
R7214:Nadk2 UTSW 15 9108254 missense probably damaging 0.99
R7244:Nadk2 UTSW 15 9083191 splice site probably null
R7310:Nadk2 UTSW 15 9103381 critical splice donor site probably null
R7634:Nadk2 UTSW 15 9092846 missense probably benign 0.41
R8310:Nadk2 UTSW 15 9103332 missense probably benign
R8424:Nadk2 UTSW 15 9083334 missense possibly damaging 0.92
R9265:Nadk2 UTSW 15 9071694 missense probably damaging 1.00
R9746:Nadk2 UTSW 15 9106736 nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTAATGGGCTATGCAATGCTG -3'
(R):5'- GCTCATGGTGAACACAAGTGAAC -3'

Sequencing Primer
(F):5'- GGCTATGCAATGCTGTATATTTGAG -3'
(R):5'- GGCTCACAGGTAGATATTTGCCATC -3'
Posted On 2022-11-14