Mutagenetix > Incidental Mutation

Incidental Mutation 'R4424:Naprt'

327283

Institutional Source

Beutler Lab

Gene Symbol

Naprt

Ensembl Gene

ENSMUSG00000022574

Gene Name

nicotinate phosphoribosyltransferase

Synonyms

9130210N20Rik, Naprt1

MMRRC Submission

041696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R4424 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75762812-75766330 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to T at 75764605 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023237 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023235] [ENSMUST00000023237] [ENSMUST00000089680] [ENSMUST00000089681] [ENSMUST00000109972] [ENSMUST00000109975] [ENSMUST00000116440] [ENSMUST00000123712] [ENSMUST00000229571] [ENSMUST00000151066] [ENSMUST00000184858] [ENSMUST00000144614] [ENSMUST00000154584] [ENSMUST00000141268] [ENSMUST00000137426]

AlphaFold

Q8CC86

Predicted Effect

probably benign
Transcript: ENSMUST00000023235

SMART Domains

Protein: ENSMUSP00000023235
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	62	75	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
EF-1_beta_acid	159	186	2.53e-4	SMART
Pfam:EF1_GNE	195	245	3.3e-19	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000023237

SMART Domains

Protein: ENSMUSP00000023237
Gene: ENSMUSG00000022574

Domain	Start	End	E-Value	Type
PDB:4MZY\|A	16	522	2e-70	PDB

Predicted Effect

probably benign
Transcript: ENSMUST00000089680

SMART Domains

Protein: ENSMUSP00000087109
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	54	70	N/A	INTRINSIC
coiled coil region	77	115	N/A	INTRINSIC
EF-1_beta_acid	154	181	2.53e-4	SMART
EF1_GNE	190	276	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000089681

SMART Domains

Protein: ENSMUSP00000087110
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
internal_repeat_2	108	136	2.92e-5	PROSPERO
low complexity region	137	156	N/A	INTRINSIC
internal_repeat_2	231	259	2.92e-5	PROSPERO
internal_repeat_1	244	263	2.02e-6	PROSPERO
internal_repeat_1	389	408	2.02e-6	PROSPERO
low complexity region	441	454	N/A	INTRINSIC
coiled coil region	461	499	N/A	INTRINSIC
EF-1_beta_acid	538	565	2.53e-4	SMART
EF1_GNE	574	660	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109972

SMART Domains

Protein: ENSMUSP00000105599
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
coiled coil region	58	96	N/A	INTRINSIC
EF-1_beta_acid	135	162	2.53e-4	SMART
EF1_GNE	171	257	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109975

SMART Domains

Protein: ENSMUSP00000105602
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	32	52	N/A	INTRINSIC
low complexity region	66	76	N/A	INTRINSIC
internal_repeat_2	108	136	2.92e-5	PROSPERO
low complexity region	137	156	N/A	INTRINSIC
internal_repeat_2	231	259	2.92e-5	PROSPERO
internal_repeat_1	244	263	2.02e-6	PROSPERO
internal_repeat_1	389	408	2.02e-6	PROSPERO
low complexity region	441	454	N/A	INTRINSIC
coiled coil region	461	499	N/A	INTRINSIC
EF-1_beta_acid	538	565	2.53e-4	SMART
EF1_GNE	574	660	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116440

SMART Domains

Protein: ENSMUSP00000112141
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
coiled coil region	58	96	N/A	INTRINSIC
EF-1_beta_acid	135	162	2.53e-4	SMART
EF1_GNE	171	257	4.87e-41	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134222

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230259

Predicted Effect

probably benign
Transcript: ENSMUST00000123712

SMART Domains

Protein: ENSMUSP00000122155
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	35	51	N/A	INTRINSIC
coiled coil region	58	96	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230739

Predicted Effect

probably benign
Transcript: ENSMUST00000151066

SMART Domains

Protein: ENSMUSP00000118889
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
EF-1_beta_acid	68	95	2.53e-4	SMART
EF1_GNE	104	190	4.87e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184858

SMART Domains

Protein: ENSMUSP00000139029
Gene: ENSMUSG00000098678

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
low complexity region	131	140	N/A	INTRINSIC
low complexity region	169	183	N/A	INTRINSIC
SCOP:d1qbkb_	366	704	1e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144614

SMART Domains

Protein: ENSMUSP00000123005
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	62	75	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
EF-1_beta_acid	159	186	2.53e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154584

SMART Domains

Protein: ENSMUSP00000116360
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	62	75	N/A	INTRINSIC
coiled coil region	82	120	N/A	INTRINSIC
EF-1_beta_acid	159	186	1.2e-8	SMART
EF1_GNE	195	280	4.9e-41	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000141268

SMART Domains

Protein: ENSMUSP00000115553
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	78	94	N/A	INTRINSIC
coiled coil region	101	139	N/A	INTRINSIC
EF-1_beta_acid	178	205	2.53e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000137426

SMART Domains

Protein: ENSMUSP00000114753
Gene: ENSMUSG00000055762

Domain	Start	End	E-Value	Type
low complexity region	53	72	N/A	INTRINSIC
internal_repeat_1	160	179	9.48e-6	PROSPERO
internal_repeat_1	305	324	9.48e-6	PROSPERO
low complexity region	330	346	N/A	INTRINSIC
coiled coil region	353	391	N/A	INTRINSIC
EF-1_beta_acid	430	457	2.53e-4	SMART
EF1_GNE	466	552	4.87e-41	SMART

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

95% (69/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nicotinic acid (NA; niacin) is converted by nicotinic acid phosphoribosyltransferase (NAPRT; EC 2.4.2.11) to NA mononucleotide (NaMN), which is then converted to NA adenine dinucleotide (NaAD), and finally to nicotinamide adenine dinucleotide (NAD), which serves as a coenzyme in cellular redox reactions and is an essential component of a variety of processes in cellular metabolism including response to stress (Hara et al., 2007).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933409G03Rik	A	T	2: 68,445,491 (GRCm39)		probably benign	Het
Aimp1	A	T	3: 132,373,253 (GRCm39)	L229Q	probably benign	Het
Ankrd16	T	A	2: 11,789,215 (GRCm39)	D267E	possibly damaging	Het
Apol11b	A	G	15: 77,522,133 (GRCm39)		probably null	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Arid3b	A	T	9: 57,741,151 (GRCm39)	D98E	probably benign	Het
Art2b	T	A	7: 101,229,129 (GRCm39)	I257F	probably benign	Het
Atp5f1a	T	A	18: 77,867,766 (GRCm39)		probably benign	Het
Carmil3	A	G	14: 55,738,928 (GRCm39)	T861A	probably benign	Het
Cep164	A	T	9: 45,691,002 (GRCm39)	F1259L	possibly damaging	Het
Cfap91	G	T	16: 38,140,727 (GRCm39)	P409T	probably damaging	Het
Chrnd	T	C	1: 87,123,512 (GRCm39)	V350A	probably benign	Het
Clcn7	T	C	17: 25,379,150 (GRCm39)	L744P	probably damaging	Het
Csl	T	A	10: 99,594,453 (GRCm39)	D204V	possibly damaging	Het
Cstdc3	A	G	16: 36,132,951 (GRCm39)	D76G	probably null	Het
Cyp2c29	G	T	19: 39,275,620 (GRCm39)	W20L	probably damaging	Het
Dhrs13	G	T	11: 77,927,951 (GRCm39)	G266*	probably null	Het
Dll3	T	C	7: 27,995,716 (GRCm39)	N362D	probably damaging	Het
Efcab3	T	G	11: 104,626,940 (GRCm39)		probably null	Het
Fanca	A	G	8: 124,015,532 (GRCm39)	V715A	probably benign	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Fpr2	C	T	17: 18,113,394 (GRCm39)	P130L	probably damaging	Het
Glce	A	G	9: 61,967,535 (GRCm39)	Y539H	probably damaging	Het
Hfe	A	T	13: 23,890,866 (GRCm39)	V91E	probably benign	Het
Hoxd13	A	T	2: 74,500,301 (GRCm39)	K281*	probably null	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Impg2	G	A	16: 56,080,388 (GRCm39)	V622I	possibly damaging	Het
Jun	A	G	4: 94,939,084 (GRCm39)	M142T	probably benign	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lama3	T	A	18: 12,652,929 (GRCm39)	C216*	probably null	Het
Lin54	G	T	5: 100,594,419 (GRCm39)	T582K	probably damaging	Het
Mapk11	A	G	15: 89,029,576 (GRCm39)		probably null	Het
Mindy3	A	G	2: 12,353,010 (GRCm39)	M397T	probably benign	Het
Mrpl41	T	C	2: 24,864,418 (GRCm39)	T85A	possibly damaging	Het
Msh6	T	A	17: 88,298,217 (GRCm39)	L1354*	probably null	Het
Mtmr12	T	C	15: 12,230,400 (GRCm39)	V41A	probably damaging	Het
Myh2	A	T	11: 67,083,551 (GRCm39)	Q1478L	probably benign	Het
Myo6	A	G	9: 80,195,320 (GRCm39)	K897E	probably benign	Het
Nrl	G	A	14: 55,759,675 (GRCm39)	S84L	probably benign	Het
Nxf1	A	G	19: 8,744,128 (GRCm39)		probably benign	Het
Or8g2b	A	T	9: 39,751,652 (GRCm39)	R307S	possibly damaging	Het
Panx2	G	T	15: 88,952,423 (GRCm39)	V305F	probably benign	Het
Pcdhga1	T	C	18: 37,795,632 (GRCm39)	L212P	probably damaging	Het
Pik3ap1	G	A	19: 41,364,320 (GRCm39)	T133I	probably benign	Het
Ppat	A	G	5: 77,063,061 (GRCm39)	W517R	probably damaging	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Prkdc	G	A	16: 15,653,946 (GRCm39)	R3901H	probably damaging	Het
Prkdc	A	G	16: 15,591,603 (GRCm39)	K2694E	probably damaging	Het
Psma8	A	G	18: 14,854,247 (GRCm39)	I42M	probably damaging	Het
Ptprd	A	T	4: 76,021,200 (GRCm39)	M599K	probably benign	Het
Rnmt	A	G	18: 68,444,742 (GRCm39)	D237G	probably null	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Scaf11	G	A	15: 96,316,309 (GRCm39)	T1085I	possibly damaging	Het
Sec14l3	G	A	11: 4,016,210 (GRCm39)	R43Q	probably damaging	Het
Shc4	G	T	2: 125,494,442 (GRCm39)	T131K	probably benign	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Sorcs1	T	C	19: 50,367,379 (GRCm39)	T228A	probably damaging	Het
Spmap2l	T	C	5: 77,202,383 (GRCm39)	I268T	possibly damaging	Het
Sptan1	C	T	2: 29,919,721 (GRCm39)		probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tex47	G	T	5: 7,355,364 (GRCm39)	A182S	probably benign	Het
Tpcn1	T	C	5: 120,680,583 (GRCm39)	K549R	probably damaging	Het
Upf3a	C	A	8: 13,846,573 (GRCm39)	P318T	probably benign	Het
Zbtb40	A	T	4: 136,726,005 (GRCm39)	M518K	probably damaging	Het
Zcchc14	G	A	8: 122,378,680 (GRCm39)		probably benign	Het
Zfp687	G	A	3: 94,916,439 (GRCm39)	P861L	probably damaging	Het

Other mutations in Naprt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00332:Naprt	APN	15	75,765,164 (GRCm39)	missense	probably damaging	1.00
IGL00846:Naprt	APN	15	75,763,637 (GRCm39)	missense	probably benign	0.13
IGL01510:Naprt	APN	15	75,762,837 (GRCm39)	utr 3 prime	probably benign
IGL01834:Naprt	APN	15	75,765,648 (GRCm39)	missense	probably damaging	1.00
IGL02002:Naprt	APN	15	75,763,221 (GRCm39)	missense	probably damaging	0.98
IGL02948:Naprt	APN	15	75,764,206 (GRCm39)	missense	probably damaging	0.99
R0440:Naprt	UTSW	15	75,762,918 (GRCm39)	splice site	probably benign
R0523:Naprt	UTSW	15	75,764,314 (GRCm39)	missense	probably damaging	1.00
R0681:Naprt	UTSW	15	75,765,481 (GRCm39)	missense	probably damaging	1.00
R2114:Naprt	UTSW	15	75,763,637 (GRCm39)	missense	probably damaging	1.00
R5495:Naprt	UTSW	15	75,765,696 (GRCm39)	splice site	probably null
R5886:Naprt	UTSW	15	75,763,324 (GRCm39)	splice site	probably null
R6166:Naprt	UTSW	15	75,763,326 (GRCm39)	missense	possibly damaging	0.94
R6282:Naprt	UTSW	15	75,763,828 (GRCm39)	missense	probably benign	0.00
R7167:Naprt	UTSW	15	75,764,461 (GRCm39)	missense	probably damaging	1.00
R7472:Naprt	UTSW	15	75,763,607 (GRCm39)	splice site	probably null
R8886:Naprt	UTSW	15	75,765,433 (GRCm39)	missense	probably damaging	1.00
R9397:Naprt	UTSW	15	75,763,859 (GRCm39)	missense	probably null	0.93
R9668:Naprt	UTSW	15	75,765,281 (GRCm39)	missense	possibly damaging	0.79
X0018:Naprt	UTSW	15	75,764,206 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATCTAGCAGGCCCTGGAAAG -3'
(R):5'- AAACCAATTCTTTTCCCAGCTG -3'

Sequencing Primer
(F):5'- CTGGAAAGCCCGGGGAAAG -3'
(R):5'- CAATTCTTTTCCCAGCTGGAGTGG -3'

Posted On

2015-07-07