Mutagenetix > Incidental Mutation

Incidental Mutation 'R1781:Nampt'

195316

Institutional Source

Beutler Lab

Gene Symbol

Nampt

Ensembl Gene

ENSMUSG00000020572

Gene Name

nicotinamide phosphoribosyltransferase

Synonyms

1110035O14Rik, Visfatin, Pbef1

MMRRC Submission

039812-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1781 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32870334-32903368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 32883037 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 74 (V74A)

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: V74A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020886
Gene: ENSMUSG00000020572
AA Change: V74A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218491

Predicted Effect

probably benign
Transcript: ENSMUST00000220200

Meta Mutation Damage Score

0.0944

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.6%
20x: 90.1%

Validation Efficiency

97% (88/91)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2	A	G	3: 59,932,117 (GRCm39)	K211E	probably damaging	Het
Abca13	T	A	11: 9,219,194 (GRCm39)	L376Q	probably damaging	Het
Abca17	T	C	17: 24,486,531 (GRCm39)	T1499A	possibly damaging	Het
Anks6	A	C	4: 47,043,639 (GRCm39)	N363K	possibly damaging	Het
Apob	T	A	12: 8,059,603 (GRCm39)	I2695N	possibly damaging	Het
Arhgef18	C	T	8: 3,430,495 (GRCm39)	R123W	probably damaging	Het
Atg14	T	A	14: 47,786,607 (GRCm39)		probably null	Het
Atg2a	A	T	19: 6,306,243 (GRCm39)	I1368F	probably damaging	Het
Btbd9	A	G	17: 30,732,567 (GRCm39)	S373P	probably damaging	Het
Ccdc83	T	C	7: 89,899,749 (GRCm39)	E41G	probably damaging	Het
Ccnh	T	C	13: 85,354,254 (GRCm39)	S233P	possibly damaging	Het
Cdh8	T	C	8: 99,917,094 (GRCm39)		probably null	Het
Cdh8	A	T	8: 100,006,290 (GRCm39)	I99N	probably damaging	Het
Cdr2	G	A	7: 120,557,268 (GRCm39)	P419L	probably benign	Het
Cds1	T	A	5: 101,960,416 (GRCm39)	I289K	possibly damaging	Het
Cherp	G	A	8: 73,221,615 (GRCm39)	T394I	probably damaging	Het
Cyp4f17	T	G	17: 32,742,993 (GRCm39)	I222S	possibly damaging	Het
Dcc	A	G	18: 71,511,788 (GRCm39)	S856P	probably benign	Het
Dcp1a	C	T	14: 30,235,032 (GRCm39)	T221I	probably benign	Het
Ddx10	A	G	9: 53,118,845 (GRCm39)	S475P	probably damaging	Het
Dennd5b	G	T	6: 148,928,896 (GRCm39)	A759E	probably damaging	Het
Disp2	G	A	2: 118,623,042 (GRCm39)	G1258D	probably damaging	Het
Fhdc1	A	T	3: 84,356,111 (GRCm39)	D444E	probably damaging	Het
Fhod1	T	C	8: 106,074,421 (GRCm39)		probably benign	Het
Gcnt7	T	C	2: 172,296,800 (GRCm39)	K8R	probably benign	Het
Gk5	C	T	9: 96,015,508 (GRCm39)	T108I	possibly damaging	Het
Gm8214	C	A	1: 183,414,129 (GRCm39)		noncoding transcript	Het
Gnl1	A	T	17: 36,298,638 (GRCm39)	I434F	probably damaging	Het
Golga2	T	C	2: 32,196,588 (GRCm39)	Y986H	probably damaging	Het
Gpr21	T	C	2: 37,407,550 (GRCm39)	V32A	probably benign	Het
Grb14	A	T	2: 64,805,899 (GRCm39)		probably null	Het
H6pd	A	T	4: 150,080,388 (GRCm39)	F144L	probably damaging	Het
Hunk	A	G	16: 90,229,448 (GRCm39)	Y27C	probably damaging	Het
Ints7	C	T	1: 191,328,396 (GRCm39)	T223M	possibly damaging	Het
Kcnmb2	T	C	3: 32,233,152 (GRCm39)		probably null	Het
Lilra6	A	T	7: 3,918,066 (GRCm39)	L26H	probably benign	Het
Mc4r	A	T	18: 66,992,918 (GRCm39)	V65E	probably damaging	Het
Mgam	G	A	6: 40,646,797 (GRCm39)	G708R	probably damaging	Het
Mllt6	A	G	11: 97,563,395 (GRCm39)	D326G	probably benign	Het
Myo7a	A	T	7: 97,722,331 (GRCm39)	V1198D	probably damaging	Het
Nlrp4b	G	C	7: 10,449,266 (GRCm39)	V123L	probably benign	Het
Ntpcr	T	A	8: 126,472,141 (GRCm39)	L150Q	probably damaging	Het
Obscn	C	T	11: 58,997,163 (GRCm39)	E1513K	probably damaging	Het
Ola1	T	C	2: 72,987,099 (GRCm39)	K178E	possibly damaging	Het
Opalin	T	C	19: 41,056,070 (GRCm39)		probably null	Het
Or10g6	A	G	9: 39,934,541 (GRCm39)	N284S	probably damaging	Het
Or13a20	A	T	7: 140,232,419 (GRCm39)	I176F	probably damaging	Het
Or2ad1	C	T	13: 21,326,934 (GRCm39)	V98I	probably benign	Het
Or2w2	C	T	13: 21,757,711 (GRCm39)	G305D	probably damaging	Het
Or3a10	A	T	11: 73,935,786 (GRCm39)	F105I	probably damaging	Het
Or51ah3	C	T	7: 103,209,773 (GRCm39)	P30S	probably benign	Het
Or52ae9	T	C	7: 103,390,028 (GRCm39)	M140V	probably benign	Het
Or52e15	A	T	7: 104,645,315 (GRCm39)	F265L	possibly damaging	Het
Or5p62	A	G	7: 107,771,090 (GRCm39)	V287A	probably benign	Het
Or7a35	T	C	10: 78,853,159 (GRCm39)	M1T	probably null	Het
P2ry12	A	G	3: 59,125,199 (GRCm39)	F159L	probably benign	Het
Paqr7	T	C	4: 134,234,592 (GRCm39)		probably null	Het
Parp1	T	C	1: 180,415,578 (GRCm39)	S466P	probably benign	Het
Parp4	T	A	14: 56,864,838 (GRCm39)		probably null	Het
Pcdh1	T	C	18: 38,322,977 (GRCm39)	D952G	probably damaging	Het
Pde6c	T	C	19: 38,140,146 (GRCm39)	S336P	possibly damaging	Het
Pgk2	T	C	17: 40,519,398 (GRCm39)	D10G	probably benign	Het
Phf20l1	A	G	15: 66,504,674 (GRCm39)	T771A	probably damaging	Het
Pkdrej	A	G	15: 85,705,372 (GRCm39)	V188A	possibly damaging	Het
Plekhm1	A	G	11: 103,285,682 (GRCm39)	L251P	probably damaging	Het
Prex2	A	T	1: 11,270,179 (GRCm39)	N1288I	probably benign	Het
Sarnp	T	C	10: 128,669,191 (GRCm39)	L16P	probably damaging	Het
Scgb3a2	T	C	18: 43,900,033 (GRCm39)		probably benign	Het
Scn11a	A	T	9: 119,584,148 (GRCm39)	I1489N	probably damaging	Het
Scn3a	A	T	2: 65,302,729 (GRCm39)	L1239Q	probably damaging	Het
Shisa9	T	C	16: 12,085,521 (GRCm39)	S377P	probably benign	Het
Slc22a30	T	A	19: 8,313,136 (GRCm39)	T550S	probably damaging	Het
Slc25a11	T	C	11: 70,535,651 (GRCm39)	T296A	probably benign	Het
Slc35f1	T	A	10: 52,938,532 (GRCm39)		probably null	Het
Slc6a13	A	G	6: 121,311,811 (GRCm39)	E396G	probably damaging	Het
Spata31d1c	T	C	13: 65,183,985 (GRCm39)	I509T	probably benign	Het
Srsf9	C	A	5: 115,465,481 (GRCm39)	Y9*	probably null	Het
Tasor2	T	C	13: 3,634,759 (GRCm39)	T683A	possibly damaging	Het
Tbx20	T	C	9: 24,636,795 (GRCm39)	I431V	probably benign	Het
Tespa1	G	A	10: 130,184,119 (GRCm39)	G67S	probably benign	Het
Trhde	A	T	10: 114,424,405 (GRCm39)	V460E	possibly damaging	Het
Trip12	A	T	1: 84,708,342 (GRCm39)	F1739I	probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	G	A	17: 31,187,524 (GRCm39)	R196H	probably damaging	Het
Vezf1	G	T	11: 87,972,447 (GRCm39)	M269I	probably benign	Het
Vmn1r35	A	T	6: 66,656,550 (GRCm39)	M40K	probably benign	Het
Vmn1r9	G	T	6: 57,048,300 (GRCm39)	C125F	probably benign	Het
Vmn2r12	C	A	5: 109,239,594 (GRCm39)	G323V	probably benign	Het
Vmn2r79	A	T	7: 86,651,555 (GRCm39)	H318L	probably benign	Het
Zfhx3	T	A	8: 109,520,167 (GRCm39)	S430T	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- CCAGAAGTACAGGCTCCTTTTCTGAAC -3'
(R):5'- TTCTGAAACTGCGAAGTAACCATACCC -3'

Sequencing Primer
(F):5'- GAACCTGCTCCTGACCTG -3'
(R):5'- CTGGTTAGTGATTCATACTACAGGAG -3'

Posted On

2014-05-23