Incidental Mutation 'R9612:Nos2'
ID 724328
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 # R9612 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 78920787-78960254 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78949158 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 698 (W698R)
Ref Sequence ENSEMBL: ENSMUSP00000018610 (fasta)
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: W698R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826
AA Change: W698R

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 probably damaging
Transcript: ENSMUST00000214397
AA Change: W585R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
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: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik A T 16: 90,927,387 M166K probably benign Het
2610021A01Rik T C 7: 41,626,903 S677P possibly damaging Het
4931406P16Rik A T 7: 34,248,231 C451S probably damaging Het
4932415D10Rik T A 10: 82,289,619 N2519I possibly damaging Het
5730480H06Rik A G 5: 48,374,530 I67V probably benign Het
Adam15 T A 3: 89,341,940 Y736F probably damaging Het
Adam29 A T 8: 55,872,083 F445L possibly damaging Het
Adgrv1 A G 13: 81,492,963 Y3318H probably damaging Het
Akap6 A G 12: 52,911,907 Y815C probably damaging Het
Ankar T A 1: 72,665,135 D876V possibly damaging Het
Atp6v1g2 G A 17: 35,237,757 V106I probably benign Het
Bdp1 A G 13: 100,077,862 S490P probably benign Het
Bet1 A T 6: 4,077,918 V107D probably damaging Het
Bri3bp T C 5: 125,454,326 V112A probably damaging Het
Cage1 T A 13: 38,032,375 D33V probably damaging Het
Ccdc146 G T 5: 21,330,579 A159E probably damaging Het
Ccnl1 C A 3: 65,957,983 G49V probably damaging Het
Cdk13 A C 13: 17,751,855 F787V Het
Cdk5r1 T C 11: 80,477,654 V49A probably benign Het
Cdon G A 9: 35,486,905 V973I probably damaging Het
Chd1l T A 3: 97,581,147 K518* probably null Het
Col24a1 A G 3: 145,545,205 D1653G probably benign Het
Cstf3 G T 2: 104,653,025 V359F possibly damaging Het
Dchs2 T C 3: 83,270,886 I1082T probably damaging Het
Dlec1 A T 9: 119,127,465 I736F probably damaging Het
Dnah9 T C 11: 65,927,649 N3288D probably benign Het
Ehbp1 T C 11: 22,169,124 D182G probably damaging Het
Evc2 G T 5: 37,386,786 E626D probably benign Het
Evi5 T C 5: 107,795,712 E589G probably benign Het
Exoc4 T C 6: 33,249,226 I25T probably benign Het
Extl2 T A 3: 116,027,496 *331R probably null Het
Fkbp8 G A 8: 70,531,674 R225H probably damaging Het
Foxred2 A T 15: 77,952,006 S384T probably damaging Het
Glmn T C 5: 107,593,865 E18G probably damaging Het
Gm17018 G T 19: 45,571,983 E82* probably null Het
Gm21936 A G 12: 87,795,737 I76V probably benign Het
Gm7489 C A 15: 53,885,972 Q147K unknown Het
Gm7489 A C 15: 53,885,973 Q147P unknown Het
Gm8005 T A 14: 42,438,398 I94F Het
Golgb1 G A 16: 36,919,605 V2810M probably benign Het
Gpr21 T C 2: 37,518,387 L315P probably damaging Het
Grip1 G A 10: 120,038,664 E778K possibly damaging Het
Herc6 T G 6: 57,652,032 S643A probably benign Het
Igkv14-100 T A 6: 68,519,333 I70N probably damaging Het
Kcnn3 A G 3: 89,609,396 M371V probably benign Het
Kif1a T A 1: 93,025,694 H1256L probably damaging Het
Klhdc4 A G 8: 121,801,178 S266P possibly damaging Het
Kmt2d CTGTTG CTG 15: 98,845,176 probably benign Het
Lefty2 T A 1: 180,894,721 L208Q probably damaging Het
Lingo2 T C 4: 35,708,450 Y510C probably damaging Het
Lrif1 T A 3: 106,731,884 V70D probably damaging Het
Lrrc74a A T 12: 86,758,571 K389I possibly damaging Het
Megf8 A T 7: 25,355,063 E1868V probably benign Het
Mmp1a TG TGG 9: 7,465,083 probably null Het
Mmp8 A G 9: 7,560,607 D95G probably damaging Het
Mmrn1 T A 6: 60,976,424 I563N probably damaging Het
Mroh3 T C 1: 136,190,975 T535A probably benign Het
Mroh9 A G 1: 163,038,929 L715P probably damaging Het
Myh6 G T 14: 54,963,597 A136E probably benign Het
Myom1 G T 17: 71,105,480 E1231* probably null Het
Nod2 G T 8: 88,670,473 C837F probably benign Het
Nup210l C T 3: 90,199,866 P1570L probably benign Het
Oas1a A T 5: 120,901,965 S188T possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,595,266 probably benign Het
Olfr1440 A T 19: 12,394,619 M119L probably damaging Het
Olfr396-ps1 T A 11: 73,928,549 D108E possibly damaging Het
Olfr490 A G 7: 108,286,280 M282T probably benign Het
Olfr836 T A 9: 19,121,464 S167T probably benign Het
Olfr847 A G 9: 19,375,381 S167P possibly damaging Het
Opa1 T C 16: 29,611,437 M394T Het
Oxct2a T A 4: 123,323,336 D84V probably damaging Het
Oxct2b A C 4: 123,117,226 D313A probably damaging Het
Phldb3 G A 7: 24,628,947 V639M probably damaging Het
Plppr4 T A 3: 117,321,961 N749I probably benign Het
Pmp22 G T 11: 63,133,239 V25F probably benign Het
Pofut2 A T 10: 77,265,929 M267L probably benign Het
Ppp1r42 T A 1: 9,968,842 N351I possibly damaging Het
Prl2b1 T C 13: 27,388,496 E37G probably benign Het
Ptpro G T 6: 137,414,320 V813F probably benign Het
Rnaseh2c T C 19: 5,602,315 F99L probably benign Het
Scn9a T A 2: 66,533,364 I857F probably damaging Het
Slf1 A G 13: 77,049,085 probably null Het
Smyd2 T C 1: 189,880,786 *434W probably null Het
Stk40 A G 4: 126,136,857 D290G probably damaging Het
Tdo2 C A 3: 81,971,694 W82C probably damaging Het
Tmem101 A G 11: 102,153,368 V231A probably damaging Het
Tns2 G A 15: 102,107,142 E160K probably damaging Het
Trim31 A T 17: 36,901,659 D174V probably benign Het
Unc13d A T 11: 116,070,318 Y404* probably null Het
Ush2a C A 1: 188,359,866 Y531* probably null Het
Vapa G A 17: 65,582,741 P144S probably benign Het
Vmn1r212 C T 13: 22,883,273 V297M possibly damaging Het
Vmn2r80 A C 10: 79,194,878 N846T probably damaging Het
Zfp811 A G 17: 32,798,766 V100A probably benign Het
Zfp958 T A 8: 4,628,298 C108S probably damaging Het
Zic5 G A 14: 122,459,688 T505I unknown 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
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
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
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'- TATCACTAACCACTGTGTGCC -3'
(R):5'- AGGTGACTGCCTTCATTAGAAG -3'

Sequencing Primer
(F):5'- TGCCAAGCCTAGGATTCTCTGAG -3'
(R):5'- CATTAGAAGGGCATGGTGGATTC -3'
Posted On 2022-09-12