Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00332:Naprt'

5831

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Naprt

Ensembl Gene

ENSMUSG00000022574

Gene Name

nicotinate phosphoribosyltransferase

Synonyms

Naprt1, 9130210N20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

IGL00332

Quality Score

Status

Chromosome

Chromosomal Location

75890956-75894481 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75893315 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 187 (Y187H)

Ref Sequence

ENSEMBL: ENSMUSP00000155290 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000023237
AA Change: Y187H

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023237
Gene: ENSMUSG00000022574
AA Change: Y187H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000055220

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

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

noncoding transcript
Transcript: ENSMUST00000129800

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134222

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000229571
AA Change: Y187H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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

noncoding transcript
Transcript: ENSMUST00000230259

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: 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: 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

noncoding transcript
Transcript: ENSMUST00000230739

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

Coding Region Coverage

Validation Efficiency

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp6	T	C	3: 97,176,421	Y404H	possibly damaging	Het
Adgrv1	T	A	13: 81,472,877		probably benign	Het
Akap13	A	G	7: 75,728,919	K2107E	probably damaging	Het
Ankrd42	A	G	7: 92,584,454		probably benign	Het
Apba3	C	T	10: 81,273,067	P555S	probably damaging	Het
Aplnr	A	G	2: 85,137,641	S337G	probably benign	Het
Arhgef40	A	G	14: 51,988,960	N154D	probably damaging	Het
Asb14	A	G	14: 26,912,041	K401R	probably benign	Het
Aspn	C	A	13: 49,566,492	T328K	probably benign	Het
Barhl2	C	T	5: 106,455,499	A265T	possibly damaging	Het
Brca2	T	A	5: 150,539,898	H1042Q	probably benign	Het
C3	A	G	17: 57,226,004	L167P	probably benign	Het
Ccdc33	A	G	9: 58,069,974		probably benign	Het
Cdk10	T	A	8: 123,230,324	M222K	possibly damaging	Het
Cfap45	C	T	1: 172,535,345		probably benign	Het
Chil3	T	A	3: 106,148,701	N352I	probably damaging	Het
Chn2	G	T	6: 54,295,922		probably null	Het
Cpt1b	T	C	15: 89,420,863	E394G	probably benign	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgr2b	T	A	1: 170,961,230	N273I	possibly damaging	Het
Fpr-rs7	G	A	17: 20,113,218	Q337*	probably null	Het
Fras1	T	A	5: 96,739,358	N2666K	possibly damaging	Het
Gfra3	C	T	18: 34,691,548		probably null	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gpr75	C	T	11: 30,891,590	T165I	probably damaging	Het
Gzmd	A	T	14: 56,130,280	C179S	probably damaging	Het
Hand1	T	G	11: 57,831,749	H13P	probably damaging	Het
Irak3	C	T	10: 120,178,067		probably null	Het
Isl2	T	A	9: 55,544,969	L275Q	possibly damaging	Het
Itgb2	T	C	10: 77,557,406	V367A	probably damaging	Het
Katna1	T	C	10: 7,762,994		probably benign	Het
Myh6	A	G	14: 54,946,993	M1627T	probably benign	Het
Nedd4	T	A	9: 72,735,089	V550E	probably damaging	Het
Nt5c2	A	G	19: 46,896,515	V252A	possibly damaging	Het
Olfr1089	T	C	2: 86,733,235	I126V	possibly damaging	Het
Olfr1504	C	T	19: 13,887,581	V210I	probably benign	Het
P2ry2	A	G	7: 100,998,186	V304A	probably damaging	Het
Pde4dip	T	C	3: 97,767,277	N108D	probably benign	Het
Pdgfrl	A	G	8: 40,985,623	T199A	probably damaging	Het
Plaa	A	G	4: 94,582,607	Y431H	probably benign	Het
Pls1	A	T	9: 95,782,419	I177N	possibly damaging	Het
Plxna2	T	C	1: 194,789,830	F1035L	probably damaging	Het
Ppp6r3	A	T	19: 3,514,729		probably null	Het
Prpf4b	T	C	13: 34,883,907	S240P	probably benign	Het
Reg2	T	A	6: 78,406,221	Y50*	probably null	Het
Rev3l	C	T	10: 39,806,969	T361I	probably benign	Het
Rps4l	A	G	6: 148,354,885		probably benign	Het
Scn11a	A	T	9: 119,769,916	F1183I	probably damaging	Het
Sh2b2	T	C	5: 136,224,419	E327G	probably damaging	Het
Shank2	A	G	7: 144,411,847	K1057R	probably damaging	Het
Sim2	T	A	16: 94,114,944	Y255*	probably null	Het
Snx9	A	G	17: 5,899,361	N112S	probably benign	Het
Sphkap	T	A	1: 83,280,516	I169F	probably damaging	Het
Spink5	A	G	18: 43,967,044	T43A	probably benign	Het
Stac2	C	T	11: 98,041,179	S265N	probably benign	Het
Tbx20	A	G	9: 24,758,748	V91A	probably damaging	Het
Tgfbr2	C	T	9: 116,110,189	R190H	probably damaging	Het
Ubr2	A	G	17: 46,990,990		probably null	Het
Wdfy3	C	T	5: 101,915,338		probably null	Het
Wdr82	T	C	9: 106,184,250	V166A	probably benign	Het
Zfhx4	C	T	3: 5,242,341	A209V	probably damaging	Het
Zfp518b	T	A	5: 38,673,766	T299S	possibly damaging	Het

Other mutations in Naprt

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Naprt	APN	15	75891788	missense	probably benign	0.13
IGL01510:Naprt	APN	15	75890988	utr 3 prime	probably benign
IGL01834:Naprt	APN	15	75893799	missense	probably damaging	1.00
IGL02002:Naprt	APN	15	75891372	missense	probably damaging	0.98
IGL02948:Naprt	APN	15	75892357	missense	probably damaging	0.99
R0440:Naprt	UTSW	15	75891069	splice site	probably benign
R0523:Naprt	UTSW	15	75892465	missense	probably damaging	1.00
R0681:Naprt	UTSW	15	75893632	missense	probably damaging	1.00
R2114:Naprt	UTSW	15	75891788	missense	probably damaging	1.00
R4424:Naprt	UTSW	15	75892756	splice site	probably null
R5495:Naprt	UTSW	15	75893847	splice site	probably null
R5886:Naprt	UTSW	15	75891475	splice site	probably null
R6166:Naprt	UTSW	15	75891477	missense	possibly damaging	0.94
R6282:Naprt	UTSW	15	75891979	missense	probably benign	0.00
R7167:Naprt	UTSW	15	75892612	missense	probably damaging	1.00
R7472:Naprt	UTSW	15	75891758	splice site	probably null
R8886:Naprt	UTSW	15	75893584	missense	probably damaging	1.00
R9397:Naprt	UTSW	15	75892010	missense	probably null	0.93
R9668:Naprt	UTSW	15	75893432	missense	possibly damaging	0.79
X0018:Naprt	UTSW	15	75892357	missense	probably damaging	0.99

Posted On

2012-04-20