Incidental Mutation 'R5427:Nampt'
ID 426973
Institutional Source Beutler Lab
Gene Symbol Nampt
Ensembl Gene ENSMUSG00000020572
Gene Name nicotinamide phosphoribosyltransferase
Synonyms 1110035O14Rik, Visfatin, Pbef1
MMRRC Submission 042993-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5427 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 32870334-32903368 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32884914 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 111 (H111L)
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 benign
Transcript: ENSMUST00000020886
AA Change: H111L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000020886
Gene: ENSMUSG00000020572
AA Change: H111L

DomainStartEndE-ValueType
Pfam:NAPRTase 188 466 1.6e-73 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000218491
Predicted Effect probably benign
Transcript: ENSMUST00000220200
Meta Mutation Damage Score 0.1074 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 97% (58/60)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A G 15: 102,248,385 (GRCm39) V277A possibly damaging Het
Adcy7 G A 8: 89,052,829 (GRCm39) probably null Het
Adgrg5 A T 8: 95,661,730 (GRCm39) D157V probably benign Het
Akap13 A G 7: 75,378,617 (GRCm39) N2090S possibly damaging Het
Alpi T C 1: 87,029,076 (GRCm39) N33D probably benign Het
Anapc15 C T 7: 101,547,810 (GRCm39) P68L probably damaging Het
Ankrd34a G A 3: 96,504,837 (GRCm39) G14R probably damaging Het
Anp32a A G 9: 62,284,598 (GRCm39) probably benign Het
Atg4b G C 1: 93,702,928 (GRCm39) K86N probably damaging Het
Bbx T C 16: 50,100,860 (GRCm39) T12A probably benign Het
Catsperg2 T C 7: 29,414,275 (GRCm39) T377A possibly damaging Het
Ccdc158 T C 5: 92,796,821 (GRCm39) Q505R probably damaging Het
Cep135 T A 5: 76,786,049 (GRCm39) S1051T probably benign Het
Cryab A G 9: 50,667,593 (GRCm39) D109G probably damaging Het
Crym A C 7: 119,798,445 (GRCm39) probably benign Het
Csf2rb2 T A 15: 78,173,111 (GRCm39) S250C probably damaging Het
Diaph1 A T 18: 38,023,648 (GRCm39) V730E unknown Het
Eci3 G T 13: 35,143,931 (GRCm39) L65M possibly damaging Het
Erg28 T C 12: 85,866,341 (GRCm39) N46D probably damaging Het
Fam89b A G 19: 5,778,819 (GRCm39) S127P probably benign Het
Fign A G 2: 63,809,342 (GRCm39) Y643H probably damaging Het
Galk2 T C 2: 125,788,741 (GRCm39) V265A probably benign Het
Gclm T C 3: 122,059,976 (GRCm39) V252A probably damaging Het
Git2 A G 5: 114,868,389 (GRCm39) S584P possibly damaging Het
Iqcf3 T C 9: 106,421,059 (GRCm39) probably null Het
Kcnk3 A G 5: 30,779,639 (GRCm39) T230A possibly damaging Het
Mettl25b T C 3: 87,831,639 (GRCm39) probably benign Het
Myh10 T C 11: 68,693,757 (GRCm39) L1486P probably damaging Het
Myom2 C A 8: 15,163,764 (GRCm39) A1006E probably benign Het
Myt1l G A 12: 29,882,331 (GRCm39) G509R unknown Het
Nid1 A G 13: 13,658,268 (GRCm39) Y671C probably damaging Het
Npy5r G A 8: 67,133,672 (GRCm39) R374C probably damaging Het
Or10ag54 A T 2: 87,099,858 (GRCm39) K244N probably benign Het
Or5b123 A T 19: 13,596,714 (GRCm39) S20C probably benign Het
Palld C T 8: 62,003,106 (GRCm39) C720Y probably benign Het
Pcsk6 C T 7: 65,683,647 (GRCm39) T606M probably benign Het
Pfas T C 11: 68,891,979 (GRCm39) I176M possibly damaging Het
Pi4kb A G 3: 94,901,518 (GRCm39) D395G probably benign Het
Plod3 A T 5: 137,020,642 (GRCm39) Y547F probably damaging Het
Plscr1l1 G A 9: 92,234,649 (GRCm39) C128Y probably benign Het
Pnpo T C 11: 96,834,633 (GRCm39) Y21C probably benign Het
Rgs1 A T 1: 144,122,018 (GRCm39) C118* probably null Het
Slc22a27 A G 19: 7,856,753 (GRCm39) probably null Het
Sntb1 C G 15: 55,506,191 (GRCm39) G461R probably damaging Het
Sppl2c G A 11: 104,078,693 (GRCm39) V498I probably benign Het
Stim2 A T 5: 54,268,281 (GRCm39) I448F possibly damaging Het
Sulf1 A T 1: 12,867,136 (GRCm39) T107S possibly damaging Het
Tenm3 A G 8: 48,689,599 (GRCm39) V1996A probably damaging Het
Timm23 G A 14: 31,911,103 (GRCm39) T171I possibly damaging Het
Tssk2 A G 16: 17,716,729 (GRCm39) D44G probably damaging Het
Vmn2r28 A T 7: 5,489,376 (GRCm39) Y488N probably damaging Het
Zbed6 A G 1: 133,585,333 (GRCm39) V668A possibly damaging Het
Zbtb48 A G 4: 152,105,108 (GRCm39) F518S probably damaging Het
Zfp709 A G 8: 72,642,976 (GRCm39) E135G probably benign Het
Zfp788 G A 7: 41,299,076 (GRCm39) V571I possibly damaging Het
Zfp963 A G 8: 70,196,106 (GRCm39) S116P 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
R0020:Nampt UTSW 12 32,891,012 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- CTCACTTTAGAAGCTGCAGGAT -3'
(R):5'- ATGGGATTTAGACAGAATCCCCTA -3'

Sequencing Primer
(F):5'- CTTTAGAAGCTGCAGGATACACTC -3'
(R):5'- CACACAGCTTTTTCAGTAGGAGC -3'
Posted On 2016-09-01