Mutagenetix > Incidental Mutation

Incidental Mutation 'R6511:Nos2'

519925

Institutional Source

Beutler Lab

Gene Symbol

Nos2

Ensembl Gene

ENSMUSG00000020826

Gene Name

nitric oxide synthase 2, inducible

Synonyms

iNOS, Nos-2, Nos2a, NOS-II

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6511 (G1)

Quality Score

137.008

Status

Validated

Chromosome

Chromosomal Location

78920787-78960254 bp(+) (GRCm38)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 78955464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150558 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018610] [ENSMUST00000018610] [ENSMUST00000214397] [ENSMUST00000214397]

AlphaFold

P29477

Predicted Effect

probably null
Transcript: ENSMUST00000018610

SMART Domains

Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826

Domain	Start	End	E-Value	Type
Pfam:NO_synthase	129	491	6.7e-189	PFAM
Pfam:Flavodoxin_1	535	666	5.5e-43	PFAM
Pfam:FAD_binding_1	719	941	8.8e-79	PFAM
Pfam:NAD_binding_1	973	1087	4.1e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000018610

SMART Domains

Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826

Domain	Start	End	E-Value	Type
Pfam:NO_synthase	129	491	6.7e-189	PFAM
Pfam:Flavodoxin_1	535	666	5.5e-43	PFAM
Pfam:FAD_binding_1	719	941	8.8e-79	PFAM
Pfam:NAD_binding_1	973	1087	4.1e-24	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000214397

Predicted Effect

probably null
Transcript: ENSMUST00000214397

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (39/39)

MGI Phenotype

FUNCTION: Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. This gene encodes a nitric oxide synthase that is inducible by a combination of lipopolysaccharide and certain cytokines. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous deletion of this gene alters susceptibility to infection, response to injury, sepsis and sensory stimuli, cardiac function, osteoclast, platelet and mammary gland physiology, tumor growth, testis and uterus morphology, diet-induced atherosclerosis, and blood, urine and glucose metabolism. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,376,594	H718Y	probably damaging	Het
Abcc8	G	A	7: 46,150,861	T499I	possibly damaging	Het
Azin2	C	A	4: 128,934,466	R316L	probably damaging	Het
Cep85l	C	T	10: 53,278,092	V702I	probably benign	Het
Cfap69	A	T	5: 5,617,220	C442S	probably damaging	Het
Commd3	G	A	2: 18,674,839	G148R	probably benign	Het
Cyfip2	T	C	11: 46,196,308	T1252A	probably benign	Het
Cyp4a30b	A	T	4: 115,456,708	D162V	probably damaging	Het
Exoc3l	G	T	8: 105,293,255	T346K	probably benign	Het
Gas8	T	C	8: 123,524,157	V123A	probably benign	Het
Gm8890	A	G	5: 11,257,308	Y51C	probably benign	Het
Hmcn2	T	G	2: 31,356,342	D774E	possibly damaging	Het
Itga1	G	T	13: 114,992,501	S540R	probably damaging	Het
Itpr2	T	C	6: 146,329,727	N1145S	probably damaging	Het
Kcnc2	C	T	10: 112,462,067		probably benign	Het
Lrp5	G	A	19: 3,652,296	R174W	probably damaging	Het
Lrrn4	T	G	2: 132,870,326	S526R	probably benign	Het
Map3k6	G	A	4: 133,248,078	R708H	probably damaging	Het
Mefv	T	C	16: 3,715,946	T154A	probably benign	Het
Mkl2	T	A	16: 13,379,850	S66R	probably damaging	Het
Mtif2	G	T	11: 29,536,949	A320S	possibly damaging	Het
Olfr1006	A	G	2: 85,674,840	S104P	possibly damaging	Het
Olfr725	A	G	14: 50,034,809	L198P	probably damaging	Het
Pip5k1c	T	C	10: 81,310,817	Y44H	probably damaging	Het
Ppp1r13b	T	C	12: 111,831,567	E972G	probably damaging	Het
Prdm12	T	C	2: 31,640,309	S71P	probably damaging	Het
Prkag2	G	T	5: 25,100,288		probably benign	Het
Ptprb	T	C	10: 116,346,820	L1467P	probably damaging	Het
Rnf43	G	A	11: 87,732,163	V697I	probably benign	Het
Rpl7	C	A	1: 16,103,665	A12S	probably benign	Het
Slc25a54	T	G	3: 109,094,256	I120S	possibly damaging	Het
Slc41a2	T	C	10: 83,283,788	H370R	probably damaging	Het
Sv2c	C	T	13: 96,048,525	V215I	probably benign	Het
Synpo2l	T	C	14: 20,662,450	E34G	probably damaging	Het
Tubgcp5	T	A	7: 55,817,392	C703*	probably null	Het
Vmn1r158	T	C	7: 22,790,691	K31R	probably benign	Het
Vmn2r106	C	T	17: 20,268,463	C558Y	probably damaging	Het
Zfp2	A	T	11: 50,900,407	C270S	probably damaging	Het

Other mutations in Nos2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01388:Nos2	APN	11	78957452	missense	probably damaging	0.96
IGL01503:Nos2	APN	11	78945863	splice site	probably benign
IGL01789:Nos2	APN	11	78944657	splice site	probably benign
IGL02797:Nos2	APN	11	78940344	missense	probably damaging	1.00
IGL02968:Nos2	APN	11	78937637	missense	probably damaging	1.00
R6762_Nos2_754	UTSW	11	78959748	missense	possibly damaging	0.90
R0035:Nos2	UTSW	11	78945727	missense	probably damaging	1.00
R0265:Nos2	UTSW	11	78937602	missense	probably damaging	0.98
R0441:Nos2	UTSW	11	78928583	missense	probably benign	0.10
R0504:Nos2	UTSW	11	78940077	missense	probably damaging	1.00
R0570:Nos2	UTSW	11	78935361	missense	possibly damaging	0.49
R1356:Nos2	UTSW	11	78952803	missense	probably benign	0.00
R1538:Nos2	UTSW	11	78956570	missense	probably benign	0.00
R3414:Nos2	UTSW	11	78957588	missense	probably benign	0.14
R3418:Nos2	UTSW	11	78959695	missense	possibly damaging	0.47
R4279:Nos2	UTSW	11	78929776	missense	probably benign	0.01
R4492:Nos2	UTSW	11	78950095	missense	probably benign
R4632:Nos2	UTSW	11	78957591	missense	possibly damaging	0.95
R4686:Nos2	UTSW	11	78928630	missense	possibly damaging	0.65
R5038:Nos2	UTSW	11	78922314	missense	probably benign
R5214:Nos2	UTSW	11	78955441	missense	probably damaging	1.00
R5377:Nos2	UTSW	11	78957491	missense	probably benign	0.00
R5777:Nos2	UTSW	11	78940152	missense	probably null	1.00
R5834:Nos2	UTSW	11	78928579	missense	probably benign	0.01
R5930:Nos2	UTSW	11	78937915	missense	probably damaging	1.00
R6706:Nos2	UTSW	11	78944723	missense	possibly damaging	0.60
R6747:Nos2	UTSW	11	78952954	missense	probably damaging	0.99
R6762:Nos2	UTSW	11	78959748	missense	possibly damaging	0.90
R6817:Nos2	UTSW	11	78945266	missense	possibly damaging	0.64
R6868:Nos2	UTSW	11	78957506	missense	probably benign	0.02
R6917:Nos2	UTSW	11	78951227	missense	possibly damaging	0.50
R7082:Nos2	UTSW	11	78928579	missense	probably benign	0.02
R7286:Nos2	UTSW	11	78929854	missense	probably damaging	1.00
R7367:Nos2	UTSW	11	78950090	missense	possibly damaging	0.77
R7398:Nos2	UTSW	11	78936471	nonsense	probably null
R7411:Nos2	UTSW	11	78944855	critical splice donor site	probably null
R7469:Nos2	UTSW	11	78952971	missense	possibly damaging	0.94
R7736:Nos2	UTSW	11	78922366	nonsense	probably null
R8694:Nos2	UTSW	11	78945689	missense	possibly damaging	0.93
R8832:Nos2	UTSW	11	78955464	splice site	probably null
R8872:Nos2	UTSW	11	78949123	missense	probably damaging	0.99
R8952:Nos2	UTSW	11	78945263	missense	probably benign	0.00
R9433:Nos2	UTSW	11	78959664	missense	probably damaging	1.00
R9580:Nos2	UTSW	11	78937631	missense	probably benign	0.01
R9612:Nos2	UTSW	11	78949158	missense	probably damaging	1.00
R9727:Nos2	UTSW	11	78952999	missense	possibly damaging	0.51
R9747:Nos2	UTSW	11	78931646	missense	probably damaging	0.96
X0063:Nos2	UTSW	11	78922367	missense	probably benign	0.01
Z1177:Nos2	UTSW	11	78931672	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GATATCTGCAGACCAGGGTC -3'
(R):5'- GGAGGCAAGCATTTAAAACCC -3'

Sequencing Primer
(F):5'- GACCAGGGTCTTTCTCCTTCTG -3'
(R):5'- CTGACAAGCTGAATCTGATTCCTGG -3'

Posted On

2018-06-06