|Institutional Source||Beutler Lab|
|Gene Name||nicotinamide phosphoribosyltransferase|
|Synonyms||Pbef1, 1110035O14Rik, Visfatin|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5055 (G1)|
|Chromosomal Location||32819545-32853349 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 32833121 bp|
|Amino Acid Change||Asparagine to Tyrosine at position 102 (N102Y)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020886 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020886] [ENSMUST00000220200]|
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||possibly damaging
AA Change: N102Y
PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: N102Y
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1720|
|Coding Region Coverage||
|Validation Efficiency||98% (84/86)|
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||
|Other mutations in Nampt||
(F):5'- TCAGTCATGAGCTGGGTGAG -3'
(R):5'- CTACTGTAAGCTACTGGTTAGTGATTC -3'
(F):5'- GAGAGCTGAGAACCCTGCTG -3'
(R):5'- CTGGTTAGTGATTCATACTACAGGAG -3'