Mutagenetix > Incidental Mutations

Incidental Mutation 'R7652:Nos3'

590902

Institutional Source

Beutler Lab

Gene Symbol

Nos3

Ensembl Gene

ENSMUSG00000028978

Gene Name

nitric oxide synthase 3, endothelial cell

Synonyms

eNOS, 2310065A03Rik, ecNOS, Nos-3

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7652 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24364810-24384474 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24383612 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 1112 (V1112D)

Ref Sequence

ENSEMBL: ENSMUSP00000030834 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030834] [ENSMUST00000059401] [ENSMUST00000115090]

Predicted Effect

probably damaging
Transcript: ENSMUST00000030834
AA Change: V1112D

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

SMART Domains

Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: V1112D

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: ENSMUST00000059401

SMART Domains

Protein: ENSMUSP00000051864
Gene: ENSMUSG00000038295

Domain	Start	End	E-Value	Type
low complexity region	3	18	N/A	INTRINSIC
low complexity region	22	38	N/A	INTRINSIC
low complexity region	115	131	N/A	INTRINSIC
transmembrane domain	219	241	N/A	INTRINSIC
transmembrane domain	279	296	N/A	INTRINSIC
Pfam:APG9	321	681	1.2e-100	PFAM
low complexity region	782	799	N/A	INTRINSIC
low complexity region	838	847	N/A	INTRINSIC
low complexity region	854	871	N/A	INTRINSIC
low complexity region	876	889	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115090

SMART Domains

Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (66/66)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,169,218		probably null	Het
Alb	G	C	5: 90,467,355	R242P	probably damaging	Het
Aph1b	T	C	9: 66,784,541	T195A	probably benign	Het
Apoe	G	T	7: 19,696,610	R236S	possibly damaging	Het
Arap3	G	T	18: 37,978,452	T1137K	probably damaging	Het
Arhgap45	C	T	10: 80,028,838	A908V	probably benign	Het
Atp13a1	T	C	8: 69,805,559	C965R	probably damaging	Het
C7	A	G	15: 5,012,105	Y440H	probably damaging	Het
Cacna2d2	T	C	9: 107,524,198		probably null	Het
Ddah2	C	A	17: 35,061,050	R173S	possibly damaging	Het
Dnajc11	T	C	4: 151,974,225	Y337H	probably damaging	Het
Dnajc25	A	G	4: 59,020,483	K302R	probably benign	Het
Dnajc6	A	T	4: 101,606,677	Q209L	probably damaging	Het
Drosha	G	A	15: 12,859,436	V577I	probably benign	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Ebf2	G	T	14: 67,390,567		probably null	Het
Epx	A	G	11: 87,875,334		probably null	Het
Eqtn	T	C	4: 94,928,337	Y73C	probably damaging	Het
Fam107b	A	G	2: 3,772,847	N21S	probably benign	Het
Fasn	G	A	11: 120,816,328	S857F	probably damaging	Het
Fat1	A	G	8: 44,953,299	N1029S	probably damaging	Het
Gas8	A	G	8: 123,526,536	I208V	probably benign	Het
Gm11127	A	T	17: 36,056,783	V221D	probably damaging	Het
Gm3269	T	C	14: 4,839,095	I88T	probably benign	Het
Gm36079	A	T	13: 120,026,993	S7T	possibly damaging	Het
Gm8005	C	A	14: 42,436,962	L136F		Het
Grid2ip	C	A	5: 143,382,638	P743Q	probably damaging	Het
Hbs1l	C	T	10: 21,364,760	T626I	probably benign	Het
Hdac3	T	A	18: 37,954,919		probably benign	Het
Hnrnpab	T	C	11: 51,605,573	Y94C	probably damaging	Het
Homer2	T	C	7: 81,649,666	D17G	probably damaging	Het
Ikbke	C	T	1: 131,271,832	R308Q	probably damaging	Het
Ints10	A	G	8: 68,825,119	T682A	possibly damaging	Het
Klhl3	G	A	13: 58,113,332		probably benign	Het
Klk9	A	T	7: 43,796,090	T235S	probably benign	Het
Kmt2c	T	C	5: 25,315,719	T1798A	probably benign	Het
Kri1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	TTCCTCCTCCTCCTCCTCCTCCTCCTC	9: 21,281,056		probably benign	Het
Krtap4-6	T	C	11: 99,665,614	I96V	unknown	Het
Lef1	A	C	3: 131,200,354	R354S	probably damaging	Het
Lrp6	A	T	6: 134,511,245	L296*	probably null	Het
Maml2	T	C	9: 13,621,649	Y720H		Het
Mmrn1	A	G	6: 60,977,506	N924D	probably benign	Het
Myh7b	A	G	2: 155,632,236	K1624E	probably damaging	Het
Olfr1136	A	G	2: 87,693,360	I174T	probably damaging	Het
Olfr1216	C	T	2: 89,013,549	V172I	probably benign	Het
Olfr1384	T	C	11: 49,513,685	F16L	probably damaging	Het
Olfr1437	C	A	19: 12,322,287	C180F	probably damaging	Het
Olfr814	A	T	10: 129,874,477	N93K	probably damaging	Het
Phospho1	T	C	11: 95,830,819	L105S	probably damaging	Het
Prss35	T	A	9: 86,755,970	N264K	probably benign	Het
Ptpn13	A	G	5: 103,529,712	D732G	probably benign	Het
Rab18	A	T	18: 6,783,123	T64S	possibly damaging	Het
Rft1	A	G	14: 30,677,816	Q319R	probably benign	Het
Rgs7	T	A	1: 175,093,830	M220L	probably benign	Het
Rnf13	A	G	3: 57,764,351	N28S	probably benign	Het
Setd3	A	T	12: 108,112,289	I311N	probably damaging	Het
Setd5	G	A	6: 113,121,764	R786H	probably damaging	Het
Slc26a6	T	C	9: 108,855,944		probably null	Het
Slc26a9	A	T	1: 131,763,896	T626S	probably benign	Het
Stambp	A	T	6: 83,563,928		probably null	Het
Stom	A	T	2: 35,316,029	N229K	probably benign	Het
Tlr1	A	T	5: 64,926,787	L149*	probably null	Het
Trpc3	C	A	3: 36,638,528	V772F	probably benign	Het
Ube3a	A	G	7: 59,243,354		probably benign	Het
Ugt2b35	T	A	5: 87,001,510	F207I	probably damaging	Het
Usp53	A	T	3: 122,953,235	D360E	possibly damaging	Het
Vmn2r96	T	G	17: 18,573,570	S59A	probably benign	Het
Wdr70	A	G	15: 8,079,216	C149R	probably benign	Het
Wnt3	A	G	11: 103,812,464	T258A	possibly damaging	Het
Zfp729b	T	C	13: 67,591,252	T965A	probably benign	Het

Other mutations in Nos3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00903:Nos3	APN	5	24369862	missense	probably damaging	1.00
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
R8094:Nos3	UTSW	5	24367220	missense	probably benign	0.13
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

Predicted Primers

PCR Primer
(F):5'- ATAGCGTGACAAGGCCGTTC -3'
(R):5'- AAAATGTCCTCGTGGTAGCGTTG -3'

Sequencing Primer
(F):5'- TGACAAGGCCGTTCCCAAG -3'
(R):5'- CTCAATGGATTAGAACCCGAACAGG -3'

Posted On

2019-10-24