Mutagenetix > Incidental Mutation

Incidental Mutation 'R1156:Nos3'

101722

Institutional Source

Beutler Lab

Gene Symbol

Nos3

Ensembl Gene

ENSMUSG00000028978

Gene Name

nitric oxide synthase 3, endothelial cell

Synonyms

2310065A03Rik, ecNOS, eNOS, Nos-3

MMRRC Submission

039229-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1156 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

24569808-24589472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24582617 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 615 (V615A)

Ref Sequence

ENSEMBL: ENSMUSP00000110742 (fasta)

Gene Model

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

AlphaFold

P70313

Predicted Effect

probably benign
Transcript: ENSMUST00000030834
AA Change: V615A

PolyPhen 2 Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: V615A

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 benign
Transcript: ENSMUST00000115090
AA Change: V615A

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: V615A

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

1x: 99.4%
3x: 98.2%
10x: 94.8%
20x: 86.8%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	C	1: 38,243,991 (GRCm39)	T927A	probably benign	Het
Ankrd13b	G	T	11: 77,363,687 (GRCm39)	H425Q	probably damaging	Het
Ano7	C	A	1: 93,329,574 (GRCm39)		probably null	Het
Cachd1	T	C	4: 100,845,816 (GRCm39)	L1000P	probably damaging	Het
Dennd4c	A	G	4: 86,725,703 (GRCm39)	D719G	probably damaging	Het
Ehbp1l1	G	T	19: 5,758,364 (GRCm39)		probably benign	Het
Eml3	A	G	19: 8,911,494 (GRCm39)	T326A	probably damaging	Het
Exoc6	T	A	19: 37,671,345 (GRCm39)	N778K	probably benign	Het
Fat1	G	A	8: 45,492,927 (GRCm39)	R3883H	possibly damaging	Het
Kcnt2	T	A	1: 140,356,593 (GRCm39)	V344D	probably damaging	Het
Khdrbs2	C	A	1: 32,506,956 (GRCm39)	T200K	probably benign	Het
Mtap	A	T	4: 89,089,459 (GRCm39)	T148S	probably benign	Het
Nudt9	G	A	5: 104,198,596 (GRCm39)	W37*	probably null	Het
Obp2a	A	G	2: 25,591,604 (GRCm39)	K108R	possibly damaging	Het
Or14j3	T	A	17: 37,900,408 (GRCm39)	T279S	possibly damaging	Het
Sec23a	A	T	12: 59,048,622 (GRCm39)	S167T	probably benign	Het
Strn	A	G	17: 78,964,360 (GRCm39)	I535T	probably damaging	Het
Ttn	G	A	2: 76,804,747 (GRCm39)	T206M	probably damaging	Het
Vwf	T	C	6: 125,614,451 (GRCm39)	C1111R	probably damaging	Het
Zfp831	C	A	2: 174,488,710 (GRCm39)	H1128Q	possibly damaging	Het
Zup1	T	C	10: 33,825,222 (GRCm39)	T87A	probably benign	Het

Other mutations in Nos3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Nos3	APN	5	24,574,860 (GRCm39)	missense	probably damaging	1.00
IGL02059:Nos3	APN	5	24,573,996 (GRCm39)	missense	probably damaging	1.00
IGL02354:Nos3	APN	5	24,572,621 (GRCm39)	missense	probably damaging	1.00
IGL02361:Nos3	APN	5	24,572,621 (GRCm39)	missense	probably damaging	1.00
IGL02936:Nos3	APN	5	24,585,991 (GRCm39)	missense	probably damaging	0.97
IGL03190:Nos3	APN	5	24,588,627 (GRCm39)	missense	probably damaging	1.00
paul	UTSW	5	24,577,702 (GRCm39)	missense	probably damaging	1.00
Peter	UTSW	5	24,582,853 (GRCm39)	missense	probably damaging	0.99
R0111:Nos3	UTSW	5	24,577,702 (GRCm39)	missense	probably damaging	1.00
R0387:Nos3	UTSW	5	24,572,583 (GRCm39)	missense	probably damaging	1.00
R0755:Nos3	UTSW	5	24,572,295 (GRCm39)	missense	probably damaging	1.00
R1597:Nos3	UTSW	5	24,573,995 (GRCm39)	missense	probably damaging	1.00
R1671:Nos3	UTSW	5	24,588,838 (GRCm39)	missense	probably damaging	1.00
R1743:Nos3	UTSW	5	24,582,310 (GRCm39)	missense	probably benign	0.22
R1830:Nos3	UTSW	5	24,575,131 (GRCm39)	missense	probably damaging	1.00
R1882:Nos3	UTSW	5	24,573,818 (GRCm39)	missense	probably damaging	1.00
R2294:Nos3	UTSW	5	24,569,855 (GRCm39)	missense	probably damaging	0.99
R3114:Nos3	UTSW	5	24,577,629 (GRCm39)	splice site	probably benign
R3978:Nos3	UTSW	5	24,582,929 (GRCm39)	missense	probably damaging	1.00
R3980:Nos3	UTSW	5	24,582,929 (GRCm39)	missense	probably damaging	1.00
R4016:Nos3	UTSW	5	24,576,714 (GRCm39)	missense	probably damaging	1.00
R4905:Nos3	UTSW	5	24,572,329 (GRCm39)	missense	probably benign	0.01
R4947:Nos3	UTSW	5	24,582,853 (GRCm39)	missense	probably damaging	0.99
R5017:Nos3	UTSW	5	24,571,717 (GRCm39)	intron	probably benign
R5095:Nos3	UTSW	5	24,573,916 (GRCm39)	splice site	probably benign
R5096:Nos3	UTSW	5	24,576,955 (GRCm39)	missense	probably damaging	1.00
R5102:Nos3	UTSW	5	24,576,625 (GRCm39)	missense	probably damaging	1.00
R5311:Nos3	UTSW	5	24,582,343 (GRCm39)	missense	probably benign	0.19
R5330:Nos3	UTSW	5	24,574,902 (GRCm39)	missense	probably damaging	1.00
R5367:Nos3	UTSW	5	24,576,942 (GRCm39)	missense	probably benign	0.00
R5394:Nos3	UTSW	5	24,588,888 (GRCm39)	missense	probably benign	0.00
R5574:Nos3	UTSW	5	24,573,859 (GRCm39)	missense	possibly damaging	0.80
R5889:Nos3	UTSW	5	24,573,775 (GRCm39)	intron	probably benign
R6032:Nos3	UTSW	5	24,584,809 (GRCm39)	missense	probably benign
R6032:Nos3	UTSW	5	24,584,809 (GRCm39)	missense	probably benign
R6401:Nos3	UTSW	5	24,584,809 (GRCm39)	missense	probably benign
R6517:Nos3	UTSW	5	24,588,622 (GRCm39)	missense	probably damaging	1.00
R6888:Nos3	UTSW	5	24,588,333 (GRCm39)	missense	possibly damaging	0.86
R6972:Nos3	UTSW	5	24,585,241 (GRCm39)	missense	probably benign
R6973:Nos3	UTSW	5	24,585,241 (GRCm39)	missense	probably benign
R7432:Nos3	UTSW	5	24,572,613 (GRCm39)	missense	probably damaging	0.98
R7434:Nos3	UTSW	5	24,587,633 (GRCm39)	missense	probably damaging	0.99
R7507:Nos3	UTSW	5	24,577,642 (GRCm39)	missense	probably damaging	1.00
R7553:Nos3	UTSW	5	24,586,715 (GRCm39)	missense	possibly damaging	0.62
R7652:Nos3	UTSW	5	24,588,610 (GRCm39)	missense	probably damaging	1.00
R8094:Nos3	UTSW	5	24,572,218 (GRCm39)	missense	probably benign	0.13
R8686:Nos3	UTSW	5	24,573,841 (GRCm39)	missense	possibly damaging	0.83
R8794:Nos3	UTSW	5	24,576,745 (GRCm39)	missense	probably damaging	1.00
R9016:Nos3	UTSW	5	24,588,639 (GRCm39)	missense	probably damaging	1.00
R9192:Nos3	UTSW	5	24,582,611 (GRCm39)	missense	probably benign	0.04
R9336:Nos3	UTSW	5	24,584,761 (GRCm39)	missense	probably benign
X0020:Nos3	UTSW	5	24,575,122 (GRCm39)	missense	probably damaging	1.00
X0061:Nos3	UTSW	5	24,587,633 (GRCm39)	missense	probably damaging	0.99
Z1176:Nos3	UTSW	5	24,582,652 (GRCm39)	missense	probably benign	0.02
Z1177:Nos3	UTSW	5	24,588,948 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2014-01-15