Mutagenetix > Incidental Mutation

Incidental Mutation 'R8801:Nampt'

671508

Institutional Source

Beutler Lab

Gene Symbol

Nampt

Ensembl Gene

ENSMUSG00000020572

Gene Name

nicotinamide phosphoribosyltransferase

Synonyms

1110035O14Rik, Visfatin, Pbef1

MMRRC Submission

068611-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8801 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

32870334-32903368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32888373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 175 (Y175H)

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

possibly damaging
Transcript: ENSMUST00000020886
AA Change: Y175H

PolyPhen 2 Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000020886
Gene: ENSMUSG00000020572
AA Change: Y175H

Domain	Start	End	E-Value	Type
Pfam:NAPRTase	188	466	1.6e-73	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220200

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	G	A	6: 92,808,972 (GRCm39)	V100I	unknown	Het
Acta2	G	T	19: 34,229,207 (GRCm39)	Q61K	probably damaging	Het
Adamts20	T	G	15: 94,258,490 (GRCm39)	D357A	probably damaging	Het
Adcy4	A	G	14: 56,009,452 (GRCm39)	F798S	probably benign	Het
Aldh16a1	A	G	7: 44,791,438 (GRCm39)	V779A	probably benign	Het
Arid1b	C	A	17: 5,387,103 (GRCm39)	P1466T	probably benign	Het
B3gnt2	T	C	11: 22,787,002 (GRCm39)	E62G	probably damaging	Het
Bcan	A	C	3: 87,904,582 (GRCm39)	V58G	probably damaging	Het
Bhlhe41	T	C	6: 145,810,339 (GRCm39)	Q66R	probably damaging	Het
Cdh6	G	A	15: 13,044,847 (GRCm39)	T425I	probably damaging	Het
Ciao2b	C	T	8: 105,367,599 (GRCm39)		probably null	Het
Csmd2	A	G	4: 128,457,195 (GRCm39)	Y3554C	probably damaging	Het
Csmd3	T	A	15: 48,321,024 (GRCm39)	H262L	possibly damaging	Het
Dgcr8	A	G	16: 18,098,500 (GRCm39)	F334S	probably damaging	Het
Dipk1c	T	C	18: 84,757,617 (GRCm39)	S234P	probably benign	Het
Dsg1c	A	G	18: 20,410,022 (GRCm39)	T497A	probably benign	Het
Dsp	T	C	13: 38,381,502 (GRCm39)	V2749A	possibly damaging	Het
Esr1	A	G	10: 4,916,270 (GRCm39)	N486D	unknown	Het
Fbn2	T	C	18: 58,287,021 (GRCm39)	T213A	probably damaging	Het
Fbxo41	T	A	6: 85,461,663 (GRCm39)	E15V	probably damaging	Het
Fga	G	A	3: 82,938,188 (GRCm39)	A188T	possibly damaging	Het
Frk	C	T	10: 34,423,402 (GRCm39)	S160F	possibly damaging	Het
Gm4559	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	CTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAACAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCT	7: 141,827,553 (GRCm39)		probably benign	Het
Gss	T	C	2: 155,406,686 (GRCm39)	Y432C	probably damaging	Het
Ifi27l2b	A	T	12: 103,423,298 (GRCm39)	F5I	unknown	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Klf12	T	G	14: 100,260,172 (GRCm39)	I186L	probably benign	Het
Klrg1	C	T	6: 122,248,342 (GRCm39)	V186I	probably benign	Het
Loxl3	G	T	6: 83,025,629 (GRCm39)	W329L	probably damaging	Het
Lyst	T	A	13: 13,835,595 (GRCm39)	V1759E	probably benign	Het
Mlph	G	A	1: 90,870,609 (GRCm39)	V507I	probably benign	Het
Mroh8	G	A	2: 157,075,086 (GRCm39)	T470M	probably damaging	Het
Nedd4l	A	G	18: 65,288,346 (GRCm39)	E2G	probably damaging	Het
Nrxn1	A	G	17: 91,009,393 (GRCm39)		probably benign	Het
Optc	A	G	1: 133,832,819 (GRCm39)	S94P	possibly damaging	Het
Or8k33	A	G	2: 86,383,727 (GRCm39)	V247A	probably benign	Het
Oxtr	T	A	6: 112,466,873 (GRCm39)		probably benign	Het
Phip	T	C	9: 82,758,305 (GRCm39)	R1463G	probably benign	Het
Pramel30	A	G	4: 144,059,438 (GRCm39)	Y383C	probably benign	Het
Psmc3ip	T	C	11: 100,984,617 (GRCm39)	N76S	probably benign	Het
Reln	T	A	5: 22,155,854 (GRCm39)	M2213L	possibly damaging	Het
Rock1	T	C	18: 10,070,260 (GRCm39)	D1271G	probably damaging	Het
Rprd1a	T	G	18: 24,641,280 (GRCm39)	E112A	probably benign	Het
Sacm1l	A	T	9: 123,411,384 (GRCm39)	D391V	probably damaging	Het
Serpina3f	A	T	12: 104,185,737 (GRCm39)	H314L	probably benign	Het
Setd5	T	A	6: 113,127,853 (GRCm39)	S1269T	possibly damaging	Het
Syne1	T	C	10: 5,308,335 (GRCm39)	E740G	probably damaging	Het
Tcaf1	T	A	6: 42,663,742 (GRCm39)	Q46L	probably damaging	Het
Tcam1	G	A	11: 106,173,618 (GRCm39)	A21T	probably benign	Het
Tchh	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC	3: 93,354,015 (GRCm39)		probably benign	Het
Ttll11	A	T	2: 35,792,985 (GRCm39)	L286H	probably damaging	Het
Usp1	A	G	4: 98,822,848 (GRCm39)	T721A	probably benign	Het
Vps41	T	C	13: 18,998,403 (GRCm39)	S241P	possibly damaging	Het

Other mutations in Nampt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GTCCAGATGTACAGGATAGTCC -3'
(R):5'- AATTCTGGTTGAGAGGCCTC -3'

Sequencing Primer
(F):5'- CTTCTAAGGAAGCTATGATTTCCCC -3'
(R):5'- CTCACTGCAGCGGTTTAGACAAG -3'

Posted On

2021-04-30