Incidental Mutation 'R0020:Nampt'
ID 19029
Institutional Source Beutler Lab
Gene Symbol Nampt
Ensembl Gene ENSMUSG00000020572
Gene Name nicotinamide phosphoribosyltransferase
Synonyms 1110035O14Rik, Visfatin, Pbef1
MMRRC Submission 038315-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0020 (G1)
Quality Score
Status Validated
Chromosome 12
Chromosomal Location 32870334-32903368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32891012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 278 (S278C)
Ref Sequence ENSEMBL: ENSMUSP00000020886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020886] [ENSMUST00000220200]
AlphaFold Q99KQ4
PDB Structure Crystal Structure of Murine NMPRTase [X-RAY DIFFRACTION]
Crystal Structure of Mouse Nicotinamide Phosphoribosyltransferase/Visfatin/Pre-B Cell Colony Enhancing Factor 1 [X-RAY DIFFRACTION]
Crystal Structure of Mouse Nicotinamide Phosphoribosyltransferase/Visfatin/Pre-B Cell Colony Enhancing Factor in Complex with Nicotinamide Mononuleotide [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000020886
AA Change: S278C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020886
Gene: ENSMUSG00000020572
AA Change: S278C

DomainStartEndE-ValueType
Pfam:NAPRTase 188 466 1.6e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000220200
Meta Mutation Damage Score 0.7713 question?
Coding Region Coverage
  • 1x: 82.6%
  • 3x: 76.6%
  • 10x: 60.3%
  • 20x: 42.3%
Validation Efficiency 92% (100/109)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that catalyzes the condensation of nicotinamide with 5-phosphoribosyl-1-pyrophosphate to yield nicotinamide mononucleotide, one step in the biosynthesis of nicotinamide adenine dinucleotide. The protein belongs to the nicotinic acid phosphoribosyltransferase (NAPRTase) family and is thought to be involved in many important biological processes, including metabolism, stress response and aging. This gene has a pseudogene on chromosome 10. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality prior to E10.5. Mice heterozygous for a null allele exhibit increased fasted glucose in male mice and impaired glucose tolerance and decresed glucose-stimulated insulin secretion in female mice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agfg2 C T 5: 137,652,064 (GRCm39) V432M probably benign Het
Akap11 A T 14: 78,755,617 (GRCm39) I74K probably benign Het
Atf2 T C 2: 73,676,628 (GRCm39) D122G possibly damaging Het
Brd10 A T 19: 29,693,597 (GRCm39) D2032E probably damaging Het
Ccser1 C A 6: 61,290,788 (GRCm39) T490K possibly damaging Het
Cip2a A T 16: 48,821,975 (GRCm39) H201L probably damaging Het
Clstn1 G A 4: 149,719,253 (GRCm39) V361M probably damaging Het
Cnga4 G T 7: 105,054,884 (GRCm39) R53L probably damaging Het
Col6a3 T A 1: 90,739,272 (GRCm39) I319F probably damaging Het
Cst11 T A 2: 148,613,253 (GRCm39) Y24F probably damaging Het
Cstb T A 10: 78,263,170 (GRCm39) V65E probably benign Het
Cyp2j11 G A 4: 96,195,641 (GRCm39) H352Y probably benign Het
Ezr G T 17: 7,010,126 (GRCm39) Q308K probably damaging Het
F3 A T 3: 121,525,265 (GRCm39) N169Y probably damaging Het
Fbp2 A T 13: 63,001,862 (GRCm39) F118I probably damaging Het
Fcho1 C T 8: 72,169,514 (GRCm39) G131R probably benign Het
Fhl5 A T 4: 25,200,054 (GRCm39) V260E probably benign Het
Kcna10 A T 3: 107,102,736 (GRCm39) I456F probably damaging Het
Loxl2 T C 14: 69,898,242 (GRCm39) V232A probably damaging Het
Megf10 G T 18: 57,420,965 (GRCm39) V868F possibly damaging Het
Megf9 A G 4: 70,406,386 (GRCm39) V260A probably benign Het
Nap1l1 A C 10: 111,326,884 (GRCm39) E148D probably benign Het
Pamr1 C T 2: 102,472,423 (GRCm39) T574I probably benign Het
Pde4d T A 13: 110,091,104 (GRCm39) C35S possibly damaging Het
Pkd1l1 A G 11: 8,825,765 (GRCm39) probably benign Het
Pkd2 A G 5: 104,651,382 (GRCm39) E910G probably damaging Het
Pkhd1l1 A G 15: 44,420,268 (GRCm39) Y3002C probably damaging Het
Ppp6r2 T A 15: 89,143,342 (GRCm39) M163K probably damaging Het
Prdm4 T C 10: 85,743,487 (GRCm39) N256S probably benign Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rimoc1 T C 15: 4,021,350 (GRCm39) probably benign Het
Scube2 A G 7: 109,430,095 (GRCm39) probably benign Het
Slco1a8 A T 6: 141,918,076 (GRCm39) V600E possibly damaging Het
Sptbn5 T A 2: 119,896,112 (GRCm39) I779F probably damaging Het
Tamalin T C 15: 101,128,433 (GRCm39) V157A probably damaging Het
Uspl1 A G 5: 149,146,589 (GRCm39) T447A probably damaging Het
Zfp282 T G 6: 47,856,943 (GRCm39) W59G probably damaging Het
Zfp629 C G 7: 127,210,341 (GRCm39) E489D probably benign Het
Zfp746 C A 6: 48,041,641 (GRCm39) A362S probably benign Het
Other mutations in Nampt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02437:Nampt APN 12 32,880,215 (GRCm39) missense probably damaging 1.00
IGL02512:Nampt APN 12 32,880,268 (GRCm39) missense possibly damaging 0.72
IGL03095:Nampt APN 12 32,892,685 (GRCm39) missense possibly damaging 0.85
Nacht UTSW 12 32,883,037 (GRCm39) missense probably damaging 1.00
R0417:Nampt UTSW 12 32,883,100 (GRCm39) missense probably benign 0.01
R1087:Nampt UTSW 12 32,883,042 (GRCm39) missense possibly damaging 0.88
R1781:Nampt UTSW 12 32,883,037 (GRCm39) missense probably damaging 1.00
R2137:Nampt UTSW 12 32,880,309 (GRCm39) missense probably benign
R2138:Nampt UTSW 12 32,888,421 (GRCm39) missense possibly damaging 0.46
R3699:Nampt UTSW 12 32,898,758 (GRCm39) splice site probably benign
R3970:Nampt UTSW 12 32,883,095 (GRCm39) missense probably benign 0.02
R4434:Nampt UTSW 12 32,888,362 (GRCm39) missense probably damaging 1.00
R4785:Nampt UTSW 12 32,898,713 (GRCm39) missense possibly damaging 0.95
R5046:Nampt UTSW 12 32,883,037 (GRCm39) missense probably damaging 1.00
R5055:Nampt UTSW 12 32,883,120 (GRCm39) missense possibly damaging 0.94
R5427:Nampt UTSW 12 32,884,914 (GRCm39) missense probably benign 0.00
R6063:Nampt UTSW 12 32,898,658 (GRCm39) missense probably damaging 1.00
R6136:Nampt UTSW 12 32,880,301 (GRCm39) missense probably benign 0.24
R6995:Nampt UTSW 12 32,898,742 (GRCm39) missense probably benign 0.24
R7569:Nampt UTSW 12 32,900,433 (GRCm39) missense probably benign
R8801:Nampt UTSW 12 32,888,373 (GRCm39) missense possibly damaging 0.62
R8802:Nampt UTSW 12 32,900,435 (GRCm39) missense probably benign 0.15
R9056:Nampt UTSW 12 32,888,458 (GRCm39) critical splice donor site probably null
R9071:Nampt UTSW 12 32,892,781 (GRCm39) missense probably damaging 1.00
R9729:Nampt UTSW 12 32,900,528 (GRCm39) missense possibly damaging 0.86
Posted On 2013-03-25