Mutagenetix > Incidental Mutation

Incidental Mutation 'R6917:Nos2'

539405

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

045038-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6917 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78920787-78960254 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78951227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 735 (T735M)

Ref Sequence

ENSEMBL: ENSMUSP00000150558 (fasta)

Gene Model

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

AlphaFold

P29477

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018610
AA Change: T848M

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826
AA Change: T848M

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

possibly damaging
Transcript: ENSMUST00000214397
AA Change: T735M

PolyPhen 2 Score 0.501 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 95.6%

Validation Efficiency

96% (45/47)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	A	G	16: 56,617,321		probably null	Het
Adcy2	A	T	13: 68,620,757	M1084K	possibly damaging	Het
Ak1	A	G	2: 32,631,152	Y95C	possibly damaging	Het
Akap6	A	G	12: 53,069,168	E1018G	probably null	Het
Ccdc175	A	G	12: 72,184,905	S27P	probably damaging	Het
Ddx31	C	T	2: 28,892,409	T588I	probably damaging	Het
Dmxl1	T	C	18: 49,864,148	W504R	probably damaging	Het
Echs1	T	G	7: 140,110,011	M239L	probably benign	Het
Eno1b	A	G	18: 48,047,589	D278G	probably benign	Het
Eno3	A	G	11: 70,661,436	T305A	probably benign	Het
Gm5591	T	A	7: 38,522,190	S152C	probably damaging	Het
Gngt1	A	G	6: 3,996,680	D42G	probably benign	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
H2-Aa	T	C	17: 34,283,707	T79A	probably damaging	Het
Ice1	A	T	13: 70,594,894	Y2116N	probably damaging	Het
Kdm6b	A	G	11: 69,406,593	M311T	probably benign	Het
L1td1	T	C	4: 98,734,031	F277L	probably benign	Het
Lamp1	T	C	8: 13,172,563	I249T	probably damaging	Het
Ldb3	G	A	14: 34,555,364	A351V	probably null	Het
Lmo7	A	G	14: 101,918,010	E996G	probably damaging	Het
Lsr	T	C	7: 30,958,296	D413G	possibly damaging	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,377,844		probably benign	Het
Myo7a	T	C	7: 98,095,763	E290G	possibly damaging	Het
Olfr1335	A	T	4: 118,809,129	L245H	probably damaging	Het
Olfr745	A	G	14: 50,643,223	K314R	possibly damaging	Het
Olfr957	T	A	9: 39,511,199	I174L	probably damaging	Het
Pik3c2g	T	C	6: 139,896,173	L768P	probably benign	Het
Plod2	T	A	9: 92,593,770	V302D	possibly damaging	Het
Ptgdr	A	T	14: 44,858,610	V215E	possibly damaging	Het
Rad51d	C	T	11: 82,879,333	R199Q	probably damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Rtel1	ATT	ATTTT	2: 181,338,277		probably null	Het
Sgip1	A	G	4: 102,968,191	R772G	probably damaging	Het
Slc19a2	C	A	1: 164,261,009	T141N	probably damaging	Het
Sp4	G	T	12: 118,299,173	N379K	probably damaging	Het
Thrap3	A	G	4: 126,180,492		probably benign	Het
Thumpd2	T	G	17: 81,044,114	I293L	probably benign	Het
Tjp1	A	G	7: 65,299,688	S1649P	probably damaging	Het
Tssk4	A	G	14: 55,652,407	S326G	probably benign	Het
Txndc9	A	C	1: 37,995,806	S6A	probably benign	Het
Uhrf1	T	C	17: 56,309,574	Y131H	probably damaging	Het
Vnn3	A	G	10: 23,865,934	D379G	possibly damaging	Het
Vsig2	T	A	9: 37,541,449	S105T	probably benign	Het
Zfp445	A	T	9: 122,862,294		probably null	Het
Zfp654	A	T	16: 64,786,471	M456K	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
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
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'- CCTCCCTTGCAGATGGAGAATAG -3'
(R):5'- AATACTGCTGTGTACTAGAGACGG -3'

Sequencing Primer
(F):5'- CATCATCTGAGAGACCCAAGTAGG -3'
(R):5'- CTGTGTACTAGAGACGGGGCAG -3'

Posted On

2018-11-06