Incidental Mutation 'IGL01420:Nadk2'
ID 80383
Institutional Source Australian Phenomics Network (link to record)
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 # IGL01420
Quality Score
Status
Chromosome 15
Chromosomal Location 9071340-9110584 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 9103072 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 308 (S308P)
Ref Sequence ENSEMBL: ENSMUSP00000098354 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067760] [ENSMUST00000100789] [ENSMUST00000100790] [ENSMUST00000188194]
AlphaFold Q8C5H8
Predicted Effect probably damaging
Transcript: ENSMUST00000067760
AA Change: S330P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068318
Gene: ENSMUSG00000022253
AA Change: S330P

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: S279P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098353
Gene: ENSMUSG00000022253
AA Change: S279P

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: S308P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098354
Gene: ENSMUSG00000022253
AA Change: S308P

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: ENSMUST00000189437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190874
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227928
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228453
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap2 A G 16: 30,920,637 (GRCm39) probably benign Het
Actr6 A T 10: 89,561,027 (GRCm39) probably benign Het
Adamts3 A T 5: 89,850,916 (GRCm39) M541K possibly damaging Het
Adgre4 T C 17: 56,106,785 (GRCm39) probably benign Het
Anxa6 T C 11: 54,883,189 (GRCm39) Y481C probably damaging Het
Apbb1ip A T 2: 22,748,292 (GRCm39) I371F possibly damaging Het
Arhgef10l T C 4: 140,297,649 (GRCm39) D261G probably damaging Het
Bche T C 3: 73,609,342 (GRCm39) H28R probably benign Het
C2cd3 T C 7: 100,104,065 (GRCm39) V2026A probably benign Het
Cacna1d C T 14: 29,773,595 (GRCm39) V1697I probably benign Het
Celsr2 T C 3: 108,301,079 (GRCm39) H2738R probably benign Het
Celsr3 A G 9: 108,718,389 (GRCm39) probably null Het
Cep152 A T 2: 125,405,572 (GRCm39) D1653E possibly damaging Het
Cfap57 T A 4: 118,470,137 (GRCm39) I248F probably benign Het
Clcnka C A 4: 141,116,643 (GRCm39) R536L probably benign Het
Dao T A 5: 114,161,881 (GRCm39) probably benign Het
Dnajc10 T C 2: 80,175,367 (GRCm39) S585P possibly damaging Het
Dysf C T 6: 84,126,741 (GRCm39) Q1333* probably null Het
Eps8l2 T A 7: 140,937,576 (GRCm39) S397T probably benign Het
Fap A G 2: 62,334,846 (GRCm39) probably benign Het
Fbf1 T C 11: 116,036,822 (GRCm39) T971A probably benign Het
Fbxl17 C T 17: 63,692,047 (GRCm39) V22M probably damaging Het
Fcgbpl1 T A 7: 27,839,558 (GRCm39) M457K probably benign Het
Fundc2 T C X: 74,434,471 (GRCm39) probably benign Het
Heyl C A 4: 123,133,967 (GRCm39) Q42K probably damaging Het
Hyal4 A G 6: 24,755,871 (GRCm39) K30E probably benign Het
Igsf10 T C 3: 59,227,071 (GRCm39) I2201V probably benign Het
Il34 T C 8: 111,469,345 (GRCm39) K157E probably damaging Het
Kcnj13 T C 1: 87,316,766 (GRCm39) T116A probably damaging Het
Lpl T C 8: 69,340,085 (GRCm39) probably benign Het
Mcm6 A G 1: 128,273,612 (GRCm39) L406P probably damaging Het
Mst1 G A 9: 107,960,027 (GRCm39) R328H probably damaging Het
Nae1 G T 8: 105,249,797 (GRCm39) Q225K probably benign Het
Ncoa6 G A 2: 155,249,507 (GRCm39) P1266S probably damaging Het
Neb A G 2: 52,047,389 (GRCm39) Y6485H probably damaging Het
Nin G A 12: 70,092,188 (GRCm39) A707V probably benign Het
Nmur1 T C 1: 86,315,113 (GRCm39) T218A probably benign Het
Npr3 T C 15: 11,858,718 (GRCm39) N135D probably damaging Het
Nup107 A T 10: 117,620,926 (GRCm39) L142Q probably damaging Het
Pdgfc T A 3: 81,048,750 (GRCm39) S53T probably benign Het
Plxdc2 T A 2: 16,654,950 (GRCm39) V232D probably damaging Het
Pou2f2 T C 7: 24,792,377 (GRCm39) N493D possibly damaging Het
Rtel1 T C 2: 180,996,194 (GRCm39) I750T probably benign Het
Sbk1 A G 7: 125,891,184 (GRCm39) probably null Het
Sec24d A G 3: 123,143,658 (GRCm39) N603S probably benign Het
Slc38a10 T A 11: 119,997,286 (GRCm39) E736V probably damaging Het
Smc6 A G 12: 11,341,659 (GRCm39) Y559C probably benign Het
Sprr4 A T 3: 92,407,691 (GRCm39) V37E unknown Het
Sptbn2 A G 19: 4,784,153 (GRCm39) T632A probably benign Het
Trim31 A G 17: 37,209,303 (GRCm39) M20V probably benign Het
Trim65 C A 11: 116,017,335 (GRCm39) V376L probably damaging Het
Ttn T C 2: 76,542,420 (GRCm39) D25195G probably damaging Het
Tysnd1 A G 10: 61,537,830 (GRCm39) T503A possibly damaging Het
Vtn A T 11: 78,390,200 (GRCm39) I9L probably benign Het
Zfp398 A G 6: 47,842,868 (GRCm39) M175V probably benign Het
Other mutations in Nadk2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On 2013-11-05