Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00903:Nos3'

27383

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Nos3

Ensembl Gene

ENSMUSG00000028978

Gene Name

nitric oxide synthase 3, endothelial cell

Synonyms

eNOS, 2310065A03Rik, ecNOS, Nos-3

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00903

Quality Score

Status

Chromosome

Chromosomal Location

24364810-24384474 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 24369862 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 293 (Q293L)

Ref Sequence

ENSEMBL: ENSMUSP00000110742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030834] [ENSMUST00000115090]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030834
AA Change: Q293L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: Q293L

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	31	57	N/A	INTRINSIC
Pfam:NO_synthase	118	480	1.7e-183	PFAM
Pfam:Flavodoxin_1	521	697	4.8e-54	PFAM
Pfam:FAD_binding_1	750	978	2.1e-82	PFAM
Pfam:NAD_binding_1	1010	1124	1.9e-18	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115090
AA Change: Q293L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: Q293L

Domain	Start	End	E-Value	Type
low complexity region	11	27	N/A	INTRINSIC
low complexity region	31	57	N/A	INTRINSIC
Pfam:NO_synthase	114	485	9e-214	PFAM
Pfam:Flavodoxin_1	521	697	3.8e-54	PFAM
Pfam:FAD_binding_1	750	978	1.6e-79	PFAM
Pfam:NAD_binding_1	1010	1091	5.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146326

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156403

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced survival, hypertension, inhibited basal vasodilation, insulin resistance, fewer mitochondria, reduced heart rate, impaired ovulation and, in some, shortened limbs. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500012F01Rik	G	T	2: 167,065,486		probably benign	Het
Arsk	A	G	13: 76,098,368		probably null	Het
As3mt	A	G	19: 46,712,234	I159V	probably benign	Het
Ctsll3	C	A	13: 60,800,261	V201L	probably benign	Het
Dapk1	T	C	13: 60,761,397	Y1275H	probably damaging	Het
Erap1	G	A	13: 74,673,707	R727H	probably benign	Het
Fam173b	T	C	15: 31,606,115	V73A	possibly damaging	Het
Fcrl6	T	A	1: 172,599,107	T91S	probably benign	Het
Gvin1	T	C	7: 106,158,170	E2364G	probably benign	Het
Hacd3	T	C	9: 65,004,253		probably benign	Het
Hcls1	T	A	16: 36,956,021		probably null	Het
Igf2r	C	T	17: 12,683,867	R2432H	possibly damaging	Het
Kif27	C	A	13: 58,344,672	V218F	possibly damaging	Het
Klhl20	T	C	1: 161,090,506	Y70C	probably benign	Het
Krt86	C	T	15: 101,473,860	H104Y	probably benign	Het
Lcn12	G	T	2: 25,493,320	N15K	possibly damaging	Het
Mrgpra1	T	C	7: 47,335,578	M118V	probably benign	Het
Nacad	G	T	11: 6,600,632	T853K	probably damaging	Het
Prkca	C	T	11: 107,983,974	V381M	probably damaging	Het
Ptcd3	A	G	6: 71,907,844	F37S	possibly damaging	Het
Ptgs2	A	G	1: 150,104,424	Y371C	probably damaging	Het
Pygl	T	C	12: 70,207,742	Y143C	probably damaging	Het
Samhd1	A	G	2: 157,107,423		probably benign	Het
Scube1	T	A	15: 83,703,501	H89L	probably damaging	Het
Tmem59l	G	A	8: 70,485,665		probably benign	Het
Vmn2r108	A	G	17: 20,462,512	V810A	probably damaging	Het
Vmn2r61	T	G	7: 42,300,511	F785C	probably damaging	Het

Other mutations in Nos3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02059:Nos3	APN	5	24368998	missense	probably damaging	1.00
IGL02354:Nos3	APN	5	24367623	missense	probably damaging	1.00
IGL02361:Nos3	APN	5	24367623	missense	probably damaging	1.00
IGL02936:Nos3	APN	5	24380993	missense	probably damaging	0.97
IGL03190:Nos3	APN	5	24383629	missense	probably damaging	1.00
paul	UTSW	5	24372704	missense	probably damaging	1.00
Peter	UTSW	5	24377855	missense	probably damaging	0.99
R0111:Nos3	UTSW	5	24372704	missense	probably damaging	1.00
R0387:Nos3	UTSW	5	24367585	missense	probably damaging	1.00
R0755:Nos3	UTSW	5	24367297	missense	probably damaging	1.00
R1156:Nos3	UTSW	5	24377619	missense	probably benign	0.21
R1597:Nos3	UTSW	5	24368997	missense	probably damaging	1.00
R1671:Nos3	UTSW	5	24383840	missense	probably damaging	1.00
R1743:Nos3	UTSW	5	24377312	missense	probably benign	0.22
R1830:Nos3	UTSW	5	24370133	missense	probably damaging	1.00
R1882:Nos3	UTSW	5	24368820	missense	probably damaging	1.00
R2294:Nos3	UTSW	5	24364857	missense	probably damaging	0.99
R3114:Nos3	UTSW	5	24372631	splice site	probably benign
R3978:Nos3	UTSW	5	24377931	missense	probably damaging	1.00
R3980:Nos3	UTSW	5	24377931	missense	probably damaging	1.00
R4016:Nos3	UTSW	5	24371716	missense	probably damaging	1.00
R4905:Nos3	UTSW	5	24367331	missense	probably benign	0.01
R4947:Nos3	UTSW	5	24377855	missense	probably damaging	0.99
R5017:Nos3	UTSW	5	24366719	intron	probably benign
R5095:Nos3	UTSW	5	24368918	splice site	probably benign
R5096:Nos3	UTSW	5	24371957	missense	probably damaging	1.00
R5102:Nos3	UTSW	5	24371627	missense	probably damaging	1.00
R5311:Nos3	UTSW	5	24377345	missense	probably benign	0.19
R5330:Nos3	UTSW	5	24369904	missense	probably damaging	1.00
R5367:Nos3	UTSW	5	24371944	missense	probably benign	0.00
R5394:Nos3	UTSW	5	24383890	missense	probably benign	0.00
R5574:Nos3	UTSW	5	24368861	missense	possibly damaging	0.80
R5889:Nos3	UTSW	5	24368777	intron	probably benign
R6032:Nos3	UTSW	5	24379811	missense	probably benign
R6032:Nos3	UTSW	5	24379811	missense	probably benign
R6401:Nos3	UTSW	5	24379811	missense	probably benign
R6517:Nos3	UTSW	5	24383624	missense	probably damaging	1.00
R6888:Nos3	UTSW	5	24383335	missense	possibly damaging	0.86
R6972:Nos3	UTSW	5	24380243	missense	probably benign
R6973:Nos3	UTSW	5	24380243	missense	probably benign
R7432:Nos3	UTSW	5	24367615	missense	probably damaging	0.98
R7434:Nos3	UTSW	5	24382635	missense	probably damaging	0.99
R7507:Nos3	UTSW	5	24372644	missense	probably damaging	1.00
R7553:Nos3	UTSW	5	24381717	missense	possibly damaging	0.62
R7652:Nos3	UTSW	5	24383612	missense	probably damaging	1.00
X0020:Nos3	UTSW	5	24370124	missense	probably damaging	1.00
X0061:Nos3	UTSW	5	24382635	missense	probably damaging	0.99
Z1176:Nos3	UTSW	5	24377654	missense	probably benign	0.02
Z1177:Nos3	UTSW	5	24383950	missense	probably benign	0.00

Posted On

2013-04-17