Mutagenetix > Incidental Mutation

Incidental Mutation 'R7569:Nampt'

585655

Institutional Source

Beutler Lab

Gene Symbol

Nampt

Ensembl Gene

ENSMUSG00000020572

Gene Name

nicotinamide phosphoribosyltransferase

Synonyms

1110035O14Rik, Visfatin, Pbef1

MMRRC Submission

045657-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7569 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32870334-32903368 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32900433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 459 (H459Q)

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: H459Q

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020886
Gene: ENSMUSG00000020572
AA Change: H459Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182O14Rik	A	T	15: 40,008,344 (GRCm39)	T73S	unknown	Het
Acvrl1	A	G	15: 101,033,636 (GRCm39)	Q106R	probably benign	Het
Adgb	A	T	10: 10,306,996 (GRCm39)	D329E	probably benign	Het
Ankrd12	A	T	17: 66,289,900 (GRCm39)	D1844E	probably damaging	Het
Ankub1	G	A	3: 57,573,039 (GRCm39)	R228*	probably null	Het
Apol6	A	C	15: 76,934,898 (GRCm39)		probably benign	Het
Ascc2	G	A	11: 4,629,506 (GRCm39)	V618M	probably damaging	Het
Asic3	A	G	5: 24,619,046 (GRCm39)	T113A	probably benign	Het
BC034090	T	A	1: 155,093,151 (GRCm39)	H769L	probably benign	Het
Bcl11a	G	T	11: 24,035,458 (GRCm39)	E65*	probably null	Het
Birc6	G	T	17: 74,905,077 (GRCm39)	R1290L	possibly damaging	Het
C6	A	G	15: 4,819,063 (GRCm39)	E465G	probably benign	Het
Cav2	T	A	6: 17,282,078 (GRCm39)	I112N	probably damaging	Het
Cep131	G	A	11: 119,957,539 (GRCm39)	A848V	probably damaging	Het
Col8a1	T	A	16: 57,447,555 (GRCm39)	I652F	unknown	Het
Cul4a	A	G	8: 13,173,493 (GRCm39)	N180S	probably benign	Het
Dhx38	A	G	8: 110,287,327 (GRCm39)	S214P	probably damaging	Het
Dmxl2	A	G	9: 54,323,271 (GRCm39)	V1197A	possibly damaging	Het
Dynlt1f	A	G	17: 6,923,181 (GRCm39)	S7P	not run	Het
Eef1ece2	T	A	16: 20,461,237 (GRCm39)	Y641*	probably null	Het
Epha1	T	A	6: 42,342,356 (GRCm39)	T331S	possibly damaging	Het
Hus1b	A	G	13: 31,130,847 (GRCm39)	Y271H	probably damaging	Het
Kmt2b	A	G	7: 30,268,978 (GRCm39)	V2610A	possibly damaging	Het
Lama2	A	G	10: 27,141,046 (GRCm39)	L651P	probably damaging	Het
Lgr5	T	C	10: 115,298,661 (GRCm39)	Y361C	probably damaging	Het
Map1s	T	C	8: 71,366,142 (GRCm39)	V349A	probably benign	Het
Map3k6	A	G	4: 132,977,388 (GRCm39)	R912G	probably benign	Het
Mtarc2	A	T	1: 184,573,622 (GRCm39)	F92Y	possibly damaging	Het
Nlrp1a	T	C	11: 70,999,869 (GRCm39)	M817V	probably benign	Het
Npsr1	A	G	9: 24,225,026 (GRCm39)	R345G	probably benign	Het
Nuak2	G	A	1: 132,244,019 (GRCm39)	A18T	possibly damaging	Het
Or4d6	T	C	19: 12,086,385 (GRCm39)	D175G	possibly damaging	Het
Or5ak23	A	G	2: 85,244,479 (GRCm39)	V248A	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Ppp4r3b	T	C	11: 29,138,540 (GRCm39)	F296S	possibly damaging	Het
Pramel51	A	T	12: 88,143,085 (GRCm39)	Y373N	probably benign	Het
Pycr2	T	C	1: 180,732,083 (GRCm39)	F19L	probably benign	Het
Robo2	T	A	16: 73,832,003 (GRCm39)	T226S	possibly damaging	Het
Rock1	A	T	18: 10,140,194 (GRCm39)	N132K	probably damaging	Het
Rp1	A	T	1: 4,355,063 (GRCm39)	L379Q	unknown	Het
Sema6d	A	G	2: 124,499,892 (GRCm39)	I323V	possibly damaging	Het
Slc12a4	A	G	8: 106,672,479 (GRCm39)	I814T	probably damaging	Het
Slc18a2	G	A	19: 59,272,584 (GRCm39)	G352R	probably damaging	Het
Slc39a14	T	C	14: 70,547,276 (GRCm39)	T357A	possibly damaging	Het
Smarcad1	T	A	6: 65,029,695 (GRCm39)	D94E	probably benign	Het
Sorcs2	A	G	5: 36,183,220 (GRCm39)	Y1018H	probably benign	Het
Srebf1	G	T	11: 60,090,947 (GRCm39)	T1069K	possibly damaging	Het
St3gal3	A	G	4: 117,821,553 (GRCm39)	V123A	probably benign	Het
Stradb	A	G	1: 59,030,310 (GRCm39)	Y188C	unknown	Het
Styxl2	T	C	1: 165,935,604 (GRCm39)	D198G	probably damaging	Het
Sult2a2	T	C	7: 13,513,430 (GRCm39)	F186L	probably benign	Het
Syne2	A	G	12: 75,974,164 (GRCm39)	T1120A	probably benign	Het
Taok1	A	T	11: 77,446,440 (GRCm39)	S430T	probably benign	Het
Tmem62	A	T	2: 120,837,411 (GRCm39)	I573L	probably benign	Het
Trav9-1	T	C	14: 53,725,581 (GRCm39)	S7P	probably benign	Het
U2af1l4	A	T	7: 30,262,982 (GRCm39)	I24F	probably damaging	Het
Usp33	T	A	3: 152,097,302 (GRCm39)	I840N	probably damaging	Het
Vmn2r74	A	C	7: 85,601,544 (GRCm39)	I698S	probably damaging	Het
Zfp352	C	T	4: 90,111,896 (GRCm39)	P12L	possibly damaging	Het
Zfp507	T	A	7: 35,493,969 (GRCm39)	E358V	probably 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
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'- AGGCATCTGATGGTTTGCCTC -3'
(R):5'- TGCAGTGTATCATAAACACGAACC -3'

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

Posted On

2019-10-17