Mutagenetix > Incidental Mutation

Incidental Mutation 'R0035:Nos2'

19428

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

038329-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0035 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

78920787-78960254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78945727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 431 (S431P)

Ref Sequence

ENSEMBL: ENSMUSP00000150558 (fasta)

Gene Model

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

AlphaFold

P29477

Predicted Effect

probably damaging
Transcript: ENSMUST00000018610
AA Change: S544P

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

SMART Domains

Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826
AA Change: S544P

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 damaging
Transcript: ENSMUST00000214397
AA Change: S431P

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

Meta Mutation Damage Score

0.9640

Coding Region Coverage

1x: 99.1%
3x: 97.8%
10x: 94.7%
20x: 87.1%

Validation Efficiency

99% (70/71)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110040N11Rik	T	C	7: 81,788,549	T20A	probably benign	Het
4932438A13Rik	T	A	3: 36,987,598	Y2708*	probably null	Het
9130011E15Rik	A	T	19: 45,891,240	M558K	probably damaging	Het
Aadacl4	A	G	4: 144,617,941	T96A	probably damaging	Het
Abcb6	A	G	1: 75,175,007	V473A	possibly damaging	Het
Abo	C	A	2: 26,843,373	K273N	possibly damaging	Het
Acvr1c	A	G	2: 58,315,779		probably benign	Het
Adcy8	A	T	15: 64,699,368	V1142D	probably benign	Het
Akna	T	A	4: 63,382,445	H591L	probably benign	Het
Aox2	T	C	1: 58,354,422	V1247A	probably benign	Het
Ap4b1	T	C	3: 103,820,664		probably benign	Het
Atm	A	G	9: 53,513,180	V607A	probably benign	Het
Cass4	C	T	2: 172,416,492	P137S	probably damaging	Het
Cfap53	A	G	18: 74,300,207	E121G	probably damaging	Het
Chmp6	T	C	11: 119,916,682	V31A	probably damaging	Het
Clec4a3	T	A	6: 122,967,549	Y185N	probably damaging	Het
Clic5	A	G	17: 44,275,313	T230A	probably damaging	Het
Clspn	G	T	4: 126,565,003		probably null	Het
Cntn1	T	A	15: 92,232,088		probably benign	Het
Col4a3	G	A	1: 82,672,753	G577R	unknown	Het
Defa21	T	A	8: 21,025,768		probably null	Het
Deup1	T	C	9: 15,599,821	R221G	possibly damaging	Het
Dnah8	A	T	17: 30,683,621		probably benign	Het
Dnase1l2	A	G	17: 24,441,075	V273A	probably damaging	Het
Gm5134	T	A	10: 75,993,864	F328Y	probably benign	Het
Golph3	A	T	15: 12,339,690	E96D	probably damaging	Het
Hspd1	A	G	1: 55,083,783	V151A	probably benign	Het
Htr1f	A	C	16: 64,926,497	I144S	probably damaging	Het
Il1f8	A	T	2: 24,159,878	H167L	probably benign	Het
Il23r	A	G	6: 67,473,788		probably benign	Het
Il25	A	G	14: 54,933,096	E42G	probably damaging	Het
Klrb1-ps1	C	T	6: 129,129,343	A149V	possibly damaging	Het
Kmt2e	T	A	5: 23,485,621		probably benign	Het
Ktn1	A	G	14: 47,730,379	N1167D	probably benign	Het
Lama4	T	A	10: 39,072,738	D832E	probably benign	Het
Map1b	A	G	13: 99,435,338	S292P	probably damaging	Het
Map6	C	T	7: 99,317,608	T345I	probably damaging	Het
Mark2	A	T	19: 7,284,652		probably benign	Het
Me3	C	A	7: 89,851,759	H559Q	probably benign	Het
Myo1b	A	G	1: 51,778,382	F574L	probably damaging	Het
Nr1h5	T	A	3: 102,949,573	K208*	probably null	Het
Nup214	T	C	2: 31,990,367		probably null	Het
Obp2b	T	C	2: 25,738,633	L133P	probably damaging	Het
Olfr173	A	T	16: 58,797,122	C241*	probably null	Het
Olfr305	T	C	7: 86,364,187	D50G	possibly damaging	Het
Osbp2	C	T	11: 3,717,997		probably benign	Het
Ptafr	C	A	4: 132,579,553	L85I	probably benign	Het
Ptprk	T	A	10: 28,263,508	Y76*	probably null	Het
Rad50	A	G	11: 53,655,027		probably benign	Het
Rasef	G	T	4: 73,762,854		probably benign	Het
Slitrk6	A	T	14: 110,749,932	L781H	probably damaging	Het
Tbc1d1	T	A	5: 64,256,737	I18N	probably damaging	Het
Tbc1d17	T	C	7: 44,841,408	N587D	probably benign	Het
Trank1	A	T	9: 111,366,776	K1289N	probably benign	Het
Tspyl3	A	G	2: 153,224,320	S333P	probably damaging	Het
Ush2a	G	A	1: 188,356,888	V347I	probably benign	Het
Usp17le	G	T	7: 104,769,062	S291*	probably null	Het
Usp24	T	A	4: 106,368,027	S619T	probably benign	Het
Vmn2r10	T	C	5: 108,997,601		probably benign	Het
Vmn2r78	A	G	7: 86,920,205	E102G	probably benign	Het
Vwa3b	G	A	1: 37,165,689	V85I	possibly damaging	Het
Wwp1	A	C	4: 19,631,116	I639R	probably damaging	Het
Xpo5	A	G	17: 46,240,175	T1001A	probably benign	Het
Zc3h12c	A	T	9: 52,143,747	M235K	probably benign	Het
Zfp619	G	A	7: 39,537,282	G912D	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
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
R6511:Nos2	UTSW	11	78955464	splice site	probably null
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'- TTTGGTGTTGGCTCCCAGAACTC -3'
(R):5'- TGCAGACAACCTGTGTGACAACC -3'

Sequencing Primer
(F):5'- GTTGGCTCCCAGAACTCTAGAC -3'
(R):5'- CTGTGTGACAACCGTTGAAC -3'

Posted On

2013-04-11