Incidental Mutation 'IGL02968:Nos2'
ID365707
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nos2
Ensembl Gene ENSMUSG00000020826
Gene Namenitric oxide synthase 2, inducible
SynonymsiNOS, Nos-2, Nos2a, NOS-II
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02968
Quality Score
Status
Chromosome11
Chromosomal Location78920787-78960254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 78937637 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 148 (Y148H)
Ref Sequence ENSEMBL: ENSMUSP00000150558 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018610] [ENSMUST00000214397]
Predicted Effect probably damaging
Transcript: ENSMUST00000018610
AA Change: Y261H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826
AA Change: Y261H

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000208783
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209121
Predicted Effect probably damaging
Transcript: ENSMUST00000214397
AA Change: Y148H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
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: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,923,473 D441V probably damaging Het
Abcd1 T C X: 73,717,058 S10P possibly damaging Het
Acad12 T C 5: 121,610,038 S106G probably benign Het
C1s1 T C 6: 124,540,351 T127A probably damaging Het
Cela3a A G 4: 137,403,821 V202A probably damaging Het
Cenpu T C 8: 46,556,195 probably null Het
Dusp9 T C X: 73,641,433 S222P probably benign Het
Exoc5 A G 14: 49,033,269 probably null Het
Foxp1 G T 6: 99,075,861 A90D probably damaging Het
Krt12 G T 11: 99,418,017 A398E probably damaging Het
Mtss1 G T 15: 58,956,515 T183K possibly damaging Het
Napa T C 7: 16,113,341 probably benign Het
Nlrp2 T C 7: 5,301,025 E167G possibly damaging Het
Olfr224 T C 11: 58,567,195 D50G possibly damaging Het
Olfr611 C T 7: 103,518,259 V42M probably damaging Het
Olfr670 A T 7: 104,960,244 F163I possibly damaging Het
Pde7a G A 3: 19,243,121 R122* probably null Het
Pkdrej A T 15: 85,816,181 Y1851* probably null Het
Rbl1 C T 2: 157,177,274 R517H probably damaging Het
Rnf10 A T 5: 115,245,888 S661T probably benign Het
Ryr1 T C 7: 29,043,893 D3886G probably damaging Het
Samd9l A G 6: 3,376,026 Y412H probably damaging Het
Scarf1 T C 11: 75,524,089 S530P probably damaging Het
Spam1 A G 6: 24,796,443 E131G possibly damaging Het
Tmem185b C A 1: 119,527,121 A204E possibly damaging Het
Tshz3 A G 7: 36,769,824 K413E probably damaging Het
Vps13d A G 4: 145,122,498 S2448P probably benign Het
Xkr5 T C 8: 18,933,625 S634G probably benign Het
Zic1 G A 9: 91,362,490 T372M probably damaging Het
Other mutations in Nos2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
X0063:Nos2 UTSW 11 78922367 missense probably benign 0.01
Posted On2015-12-18