Mutagenetix > Incidental Mutation

Incidental Mutation 'R8802:Nampt'

671574

Institutional Source

Beutler Lab

Gene Symbol

Nampt

Ensembl Gene

ENSMUSG00000020572

Gene Name

nicotinamide phosphoribosyltransferase

Synonyms

1110035O14Rik, Visfatin, Pbef1

MMRRC Submission

068639-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8802 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32870334-32903368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 32900435 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 460 (T460K)

Ref Sequence

ENSEMBL: ENSMUSP00000020886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020886]

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: T460K

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000020886
Gene: ENSMUSG00000020572
AA Change: T460K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (59/59)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	A	G	7: 12,249,415 (GRCm39)	T83A	possibly damaging	Het
Abcc6	A	G	7: 45,658,283 (GRCm39)	L451P	probably damaging	Het
Ak5	T	C	3: 152,321,631 (GRCm39)	E252G	probably damaging	Het
Atg4a-ps	T	A	3: 103,552,686 (GRCm39)	K218N	probably damaging	Het
Bglap2	T	A	3: 88,285,568 (GRCm39)	M35L	probably benign	Het
Bicral	A	G	17: 47,135,626 (GRCm39)	M528T	probably benign	Het
Cdh23	A	G	10: 60,244,877 (GRCm39)	V1008A	probably benign	Het
Chil6	A	T	3: 106,312,208 (GRCm39)	L31Q	probably damaging	Het
Ctnnd2	T	C	15: 30,967,022 (GRCm39)	V991A	probably damaging	Het
Dcc	T	C	18: 71,959,125 (GRCm39)	N216D	probably damaging	Het
Dcdc2c	T	A	12: 28,576,720 (GRCm39)	D106V	probably benign	Het
Dchs2	T	C	3: 83,253,544 (GRCm39)	I2318T	probably benign	Het
Fat2	A	G	11: 55,173,750 (GRCm39)	F2321S	possibly damaging	Het
Fbxw7	T	C	3: 84,859,693 (GRCm39)	V5A	unknown	Het
Fn3krp	T	C	11: 121,315,813 (GRCm39)	V68A	probably damaging	Het
Gcn1	T	C	5: 115,747,942 (GRCm39)	L1783P	probably damaging	Het
Gdf6	C	T	4: 9,844,769 (GRCm39)	H98Y	probably damaging	Het
Gm13271	C	A	4: 88,673,247 (GRCm39)	P48Q	probably damaging	Het
Gm4871	A	T	5: 144,966,876 (GRCm39)	N202K	probably benign	Het
Gucy1a2	G	A	9: 3,635,050 (GRCm39)	V365I	probably benign	Het
Hadhb	C	T	5: 30,378,831 (GRCm39)	Q157*	probably null	Het
Hivep2	C	T	10: 14,015,166 (GRCm39)	R1778C	probably damaging	Het
Hmcn2	T	A	2: 31,301,288 (GRCm39)	V2845E	probably damaging	Het
Hps3	T	A	3: 20,074,070 (GRCm39)	I431L	probably damaging	Het
Idh1	CA	CAA	1: 65,204,347 (GRCm39)		probably null	Het
Igkv12-38	A	T	6: 69,920,390 (GRCm39)	C43S	probably damaging	Het
Jph2	T	A	2: 163,239,184 (GRCm39)	H88L	probably damaging	Het
Kmt2b	G	A	7: 30,283,496 (GRCm39)	R955W	probably damaging	Het
Lrrc4c	A	G	2: 97,460,603 (GRCm39)	T410A	possibly damaging	Het
Ltf	C	T	9: 110,850,018 (GRCm39)	P14S	probably benign	Het
Mapk8ip3	G	A	17: 25,124,206 (GRCm39)	R521C	probably damaging	Het
Nek9	T	C	12: 85,374,192 (GRCm39)	I282V	probably benign	Het
Ninl	A	T	2: 150,777,172 (GRCm39)	V1394E	probably damaging	Het
Obox6	G	A	7: 15,567,772 (GRCm39)	S225L	probably damaging	Het
Or6k4	A	G	1: 173,964,616 (GRCm39)	Y102C	probably damaging	Het
Pcdha4	A	G	18: 37,087,211 (GRCm39)	K465E	possibly damaging	Het
Pex11g	T	C	8: 3,507,308 (GRCm39)	K151R	unknown	Het
Pld2	T	C	11: 70,446,824 (GRCm39)	L811P	probably damaging	Het
Pum2	C	T	12: 8,778,726 (GRCm39)	R459*	probably null	Het
Ralgapa1	T	C	12: 55,785,101 (GRCm39)	S720G	probably damaging	Het
Rbbp6	T	A	7: 122,587,680 (GRCm39)		probably benign	Het
Rbl1	A	G	2: 157,038,073 (GRCm39)		probably null	Het
Reln	G	T	5: 22,130,257 (GRCm39)	R2685S	probably damaging	Het
Rnf213	T	C	11: 119,352,928 (GRCm39)	F3942L		Het
Rpusd2	T	C	2: 118,865,378 (GRCm39)	V25A	probably benign	Het
Rusc1	T	A	3: 88,999,540 (GRCm39)	I81L	probably benign	Het
Serpinb9b	A	G	13: 33,213,587 (GRCm39)	E48G	probably benign	Het
Skil	C	T	3: 31,167,592 (GRCm39)	P408L	probably damaging	Het
Slc17a4	A	G	13: 24,089,274 (GRCm39)	W186R	probably damaging	Het
Syvn1	T	C	19: 6,097,968 (GRCm39)	F2S	probably benign	Het
Tmc6	T	C	11: 117,665,901 (GRCm39)	M338V	possibly damaging	Het
Tnfrsf17	A	T	16: 11,137,819 (GRCm39)	R185S	possibly damaging	Het
Utp20	T	C	10: 88,583,157 (GRCm39)	K2732R	probably damaging	Het
Vmn1r58	A	T	7: 5,414,080 (GRCm39)	V50E	probably damaging	Het
Vmn2r114	T	A	17: 23,528,836 (GRCm39)	D422V	possibly damaging	Het
Vmn2r83	A	T	10: 79,314,261 (GRCm39)	I170F	probably benign	Het
Xdh	C	T	17: 74,225,405 (GRCm39)	V466I	probably benign	Het
Xndc1	A	G	7: 101,720,539 (GRCm39)	I6V	possibly damaging	Het
Zbtb38	T	C	9: 96,567,623 (GRCm39)	T1154A	probably benign	Het
Zfp160	T	A	17: 21,246,867 (GRCm39)	H472Q	probably damaging	Het
Zfp438	T	A	18: 5,213,417 (GRCm39)	T514S	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
R8801:Nampt	UTSW	12	32,888,373 (GRCm39)	missense	possibly damaging	0.62
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'- GGCATCTGATGGTTTGCCTC -3'
(R):5'- TGCAGTGTATCATAAACACGAACC -3'

Sequencing Primer
(F):5'- GGTTTGCCTCTCCCTTTAAGAAAAC -3'
(R):5'- ATGTTAGTACATACGCACAGGC -3'

Posted On

2021-04-30