Mutagenetix > Incidental Mutation

Incidental Mutation 'R9336:Nos3'

707138

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9336 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24569808-24589472 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24584761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 722 (I722L)

Ref Sequence

ENSEMBL: ENSMUSP00000030834 (fasta)

Gene Model

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

AlphaFold

P70313

Predicted Effect

probably benign
Transcript: ENSMUST00000030834
AA Change: I722L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: I722L

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
AA Change: I722L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: I722L

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: 100.0%
10x: 99.8%
20x: 99.3%

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: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	C	T	4: 148,029,490 (GRCm39)	R487C	probably benign	Het
2900026A02Rik	A	T	5: 113,240,966 (GRCm39)		probably null	Het
Adamts15	T	A	9: 30,816,085 (GRCm39)	T625S	probably damaging	Het
Adamtsl1	T	C	4: 86,240,264 (GRCm39)	V675A	probably benign	Het
Ank3	A	T	10: 69,809,578 (GRCm39)	T1120S	probably benign	Het
Armh3	A	T	19: 45,945,120 (GRCm39)	M277K	probably damaging	Het
Babam2	A	T	5: 31,859,194 (GRCm39)	M1L	possibly damaging	Het
Cadm3	G	A	1: 173,168,786 (GRCm39)	Q261*	probably null	Het
Cdc27	A	T	11: 104,396,496 (GRCm39)	D802E	probably benign	Het
Cfap206	C	T	4: 34,716,494 (GRCm39)	V324I	probably benign	Het
Cfap44	T	C	16: 44,242,807 (GRCm39)	I737T	probably damaging	Het
Chrm3	A	T	13: 9,928,652 (GRCm39)	I128N	probably damaging	Het
Cyfip1	T	A	7: 55,554,189 (GRCm39)	S743T	probably benign	Het
Ddias	A	G	7: 92,507,314 (GRCm39)	V867A	possibly damaging	Het
Ddx20	G	C	3: 105,585,903 (GRCm39)	T814R	possibly damaging	Het
Dgka	A	T	10: 128,566,935 (GRCm39)		probably null	Het
Dnah9	A	T	11: 65,761,775 (GRCm39)	V3905E	probably damaging	Het
Dsg3	C	A	18: 20,657,742 (GRCm39)	Q271K	probably benign	Het
Dvl2	T	A	11: 69,897,180 (GRCm39)	I294N	probably damaging	Het
E2f3	G	A	13: 30,095,239 (GRCm39)	H350Y	possibly damaging	Het
Eif2b5	G	A	16: 20,324,027 (GRCm39)	D457N	probably damaging	Het
Erbb3	T	C	10: 128,420,929 (GRCm39)	T125A	probably benign	Het
Etv5	A	C	16: 22,254,627 (GRCm39)	C78G	probably benign	Het
Frrs1	G	A	3: 116,684,582 (GRCm39)	R263H	probably benign	Het
Grid1	G	A	14: 35,043,664 (GRCm39)	D340N	probably damaging	Het
Hivep3	A	T	4: 119,952,400 (GRCm39)	I239F	possibly damaging	Het
Ifi208	C	T	1: 173,510,394 (GRCm39)	T183I	probably damaging	Het
Ifitm2	AG	A	7: 140,535,814 (GRCm39)		probably null	Het
Igkv1-88	T	A	6: 68,839,313 (GRCm39)	I100F	probably damaging	Het
Kmt2c	T	C	5: 25,614,165 (GRCm39)	N185S	probably benign	Het
Kmt2d	A	C	15: 98,743,697 (GRCm39)	L3821R	unknown	Het
Krtap22-2	T	G	16: 88,807,478 (GRCm39)	Y40S	unknown	Het
Lrrc1	A	G	9: 77,349,480 (GRCm39)	V362A	probably damaging	Het
Malsu1	T	A	6: 49,061,449 (GRCm39)	I171N	probably damaging	Het
Mark1	C	T	1: 184,648,345 (GRCm39)	G314S	possibly damaging	Het
Mib2	T	C	4: 155,743,394 (GRCm39)	N135S	probably benign	Het
Mos	A	T	4: 3,870,886 (GRCm39)	L310Q	probably damaging	Het
Muc4	C	T	16: 32,569,756 (GRCm39)	T272I	possibly damaging	Het
Myo15b	A	G	11: 115,771,064 (GRCm39)	T1654A		Het
Napsa	G	T	7: 44,231,769 (GRCm39)	G153W	probably damaging	Het
Or10z1	A	T	1: 174,077,679 (GRCm39)	D271E	probably damaging	Het
Or1p1c	A	T	11: 74,160,743 (GRCm39)	D176V	probably damaging	Het
Or51h1	A	T	7: 102,308,199 (GRCm39)	H57L	probably damaging	Het
Or5b104	A	T	19: 13,072,513 (GRCm39)	S166R	probably benign	Het
P4ha2	T	A	11: 54,002,390 (GRCm39)	D109E	possibly damaging	Het
Pappa	G	T	4: 65,042,918 (GRCm39)	C47F	unknown	Het
Pbx3	T	A	2: 34,261,832 (GRCm39)	H34L	probably benign	Het
Pcca	A	G	14: 122,887,738 (GRCm39)	T234A	probably benign	Het
Pcdha11	C	T	18: 37,144,514 (GRCm39)	R202W	probably damaging	Het
Pcdhga1	T	G	18: 37,795,251 (GRCm39)	V85G	probably damaging	Het
Pclo	A	G	5: 14,726,562 (GRCm39)	I1807V	unknown	Het
Pgm3	A	T	9: 86,437,413 (GRCm39)	F528Y	probably benign	Het
Pigz	T	C	16: 31,763,694 (GRCm39)	Y251H	probably damaging	Het
Pik3c2g	G	T	6: 139,821,161 (GRCm39)	Q687H		Het
Pja2	A	T	17: 64,590,432 (GRCm39)	N700K	unknown	Het
Pkd2l2	T	C	18: 34,561,158 (GRCm39)	F389L	probably damaging	Het
Plcz1	T	A	6: 139,985,446 (GRCm39)	T32S	possibly damaging	Het
Pola2	A	G	19: 5,991,029 (GRCm39)	V555A	possibly damaging	Het
Ppp4r3a	A	C	12: 101,015,919 (GRCm39)	C541G	probably benign	Het
Prr15l	A	T	11: 96,825,599 (GRCm39)	K76N	probably damaging	Het
Psg28	C	A	7: 18,156,905 (GRCm39)	K443N	possibly damaging	Het
Ptch2	G	T	4: 116,954,197 (GRCm39)	A76S	probably damaging	Het
Ptch2	A	G	4: 116,966,776 (GRCm39)	D553G	possibly damaging	Het
Ptprz1	T	C	6: 23,000,855 (GRCm39)	S982P	probably benign	Het
Rnd3	T	C	2: 51,038,844 (GRCm39)	I15V	probably benign	Het
Rtn3	T	C	19: 7,460,328 (GRCm39)	K41E	unknown	Het
Sap25	T	C	5: 137,639,985 (GRCm39)	S30P	probably benign	Het
Scfd2	A	T	5: 74,692,006 (GRCm39)	I92N	probably damaging	Het
Sdr16c5	T	C	4: 4,016,108 (GRCm39)	Y106C	probably damaging	Het
Sell	T	C	1: 163,893,177 (GRCm39)	I131T	probably damaging	Het
Sesn3	T	A	9: 14,225,850 (GRCm39)	V195D	probably damaging	Het
Setdb2	A	G	14: 59,660,816 (GRCm39)	V109A	unknown	Het
Skint2	T	C	4: 112,483,054 (GRCm39)	I153T	probably benign	Het
Slc22a1	A	G	17: 12,886,142 (GRCm39)	S164P	probably damaging	Het
Sowahc	G	A	10: 59,058,305 (GRCm39)	G147D	probably benign	Het
Strip2	G	C	6: 29,931,824 (GRCm39)	G456R	probably benign	Het
Synpo	G	T	18: 60,735,472 (GRCm39)	R825S	probably damaging	Het
Tango6	A	G	8: 107,415,701 (GRCm39)	D174G	probably benign	Het
Tas1r2	T	C	4: 139,389,316 (GRCm39)	F433S	probably damaging	Het
Tas2r126	T	C	6: 42,411,877 (GRCm39)	S137P	probably benign	Het
Tbc1d15	A	G	10: 115,044,866 (GRCm39)	F512S	probably damaging	Het
Tenm3	A	T	8: 48,870,115 (GRCm39)	L226Q	probably damaging	Het
Tmod1	A	G	4: 46,078,368 (GRCm39)	T59A	probably damaging	Het
Tmprss9	T	A	10: 80,730,787 (GRCm39)	M771K	probably benign	Het
Trim29	T	C	9: 43,238,350 (GRCm39)	Y485H	possibly damaging	Het
Ttc17	T	C	2: 94,189,198 (GRCm39)	K144E	probably benign	Het
Ttc21b	A	G	2: 66,057,287 (GRCm39)	Y562H	probably benign	Het
Ugt2b5	T	C	5: 87,285,130 (GRCm39)	H269R	probably benign	Het
Utp20	A	G	10: 88,649,798 (GRCm39)	F471L	probably damaging	Het
Vmn2r120	T	A	17: 57,832,201 (GRCm39)	D196V	possibly damaging	Het
Wdr72	T	C	9: 74,117,292 (GRCm39)	V680A	probably damaging	Het
Wee1	G	A	7: 109,721,689 (GRCm39)	G45S	probably damaging	Het
Zfp1006	A	T	8: 129,944,149 (GRCm39)	D91E	unknown	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	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
R1156:Nos3	UTSW	5	24,582,617 (GRCm39)	missense	probably benign	0.21
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
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

PCR Primer
(F):5'- GCCCTGCTTGCAATGGAAAG -3'
(R):5'- AACATCTTCCGCCTGTGCAC -3'

Sequencing Primer
(F):5'- CCCTGCTTGCAATGGAAAGAGATTG -3'
(R):5'- TGAGTCAGCCCTGGGAAG -3'

Posted On

2022-04-18