Incidental Mutation 'IGL01388:Nos2'

• ID: 79123
• Institutional Source: Australian Phenomics Network
• Gene Symbol: Nos2
• Ensembl Gene: ENSMUSG00000020826
• Gene Name: nitric oxide synthase 2, inducible
• Synonyms: iNOS, Nos-2, Nos2a, NOS-II
• Essential gene?: Non essential (E-score: 0.000)
• Stock #: IGL01388
• Chromosome: 11
• Chromosomal Location: 78920787-78960254 bp(+) (GRCm38)
• Type of Mutation: missense
• DNA Base Change (assembly): G to T at 78957452 bp (GRCm38)
• Zygosity: Heterozygous
• Amino Acid Change: Valine to Leucine at position 1062 (V1062L)
• Ref Sequence: ENSEMBL: ENSMUSP00000018610
• Gene Model: predicted gene model for transcript(s): [ENSMUST00000018610] [ENSMUST00000214397]
• AlphaFold: P29477
• PDB Structure: MURINE INDUCIBLE NITRIC OXIDE SYNTHASE OXYGENASE DOMAIN (DELTA 114) (N-[(1,3-BENZODIOXOL-5-YL)METHYL]-1-[2-(1H-IMIDAZOL-1-YL)PYRIMIDIN-4-YL]-4-(METHOXYCARBONYL)-PIPERAZINE-2-ACETAMIDE COMPLEX [X-RAY DIFFRACTION] ; MURINE INOSOXY DIMER WITH ISOTHIOUREA BOUND IN THE ACTIVE SITE [X-RAY DIFFRACTION] ; MURINE INDUCIBLE NITRIC OXIDE SYNTHASE OXYGENASE DIMER N-HYDROXYARGININE AND 4-AMINO TETRAHYDROBIOPTERIN [X-RAY DIFFRACTION] ; MURINE INDUCIBLE NITRIC OXIDE SYNTHASE OXYGENASE DIMER N-HYDROXYARGININE AND DIHYDROBIOPTERIN [X-RAY DIFFRACTION] ; MURINE INDUCIBLE NITRIC OXIDE SYNTHASE OXYGENASE DIMER N-HYDROXYARGININE AND TETRAHYDROBIOPTERIN [X-RAY DIFFRACTION] ; Murine Inducible Nitric Oxide Synthase Oxygenase Dimer (Delta 65) with W457F Mutation at Tetrahydrobiopterin Binding Site [X-RAY DIFFRACTION] ; Murine Inducible Nitric Oxide Synthase Oxygenase Dimer (Delta 65) with W457A Mutation at Tetrahydrobiopterin Binding Site [X-RAY DIFFRACTION] ; inducible nitric oxide synthase with Chlorzoxazone bound [X-RAY DIFFRACTION] ; inducible nitric oxide synthase with 7-nitroindazole bound [X-RAY DIFFRACTION] ; inducible nitric oxide synthase with 6-nitroindazole bound [X-RAY DIFFRACTION] ; >> 40 additional structures at PDB <<
• Predicted Effect: probably damaging; Transcript: ENSMUST00000018610; AA Change: V1062L; PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
• SMART Domains: Protein: ENSMUSP00000018610; Gene: ENSMUSG00000020826; AA Change: V1062L

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: V949L; PolyPhen 2 Score 0.874 (Sensitivity: 0.83; Specificity: 0.93)
• 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]
• Posted On: 2013-11-05