Incidental Mutation 'R9612:Nos2'
ID 724328
Institutional Source Beutler Lab
Gene Symbol Nos2
Ensembl Gene ENSMUSG00000020826
Gene Name nitric oxide synthase 2, inducible
Synonyms Nos2a, NOS-II, Nos-2, iNOS
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 78811613-78851052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 78839984 bp (GRCm39)
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
2610021A01Rik T C 7: 41,276,327 (GRCm39) S677P possibly damaging Het
5730480H06Rik A G 5: 48,531,872 (GRCm39) I67V probably benign Het
Adam15 T A 3: 89,249,247 (GRCm39) Y736F probably damaging Het
Adam29 A T 8: 56,325,118 (GRCm39) F445L possibly damaging Het
Adgrv1 A G 13: 81,641,082 (GRCm39) Y3318H probably damaging Het
Akap6 A G 12: 52,958,690 (GRCm39) Y815C probably damaging Het
Ankar T A 1: 72,704,294 (GRCm39) D876V possibly damaging Het
Atp6v1g2 G A 17: 35,456,733 (GRCm39) V106I probably benign Het
Bdp1 A G 13: 100,214,370 (GRCm39) S490P probably benign Het
Bet1 A T 6: 4,077,918 (GRCm39) V107D probably damaging Het
Bri3bp T C 5: 125,531,390 (GRCm39) V112A probably damaging Het
Cage1 T A 13: 38,216,351 (GRCm39) D33V probably damaging Het
Ccdc146 G T 5: 21,535,577 (GRCm39) A159E probably damaging Het
Ccnl1 C A 3: 65,865,404 (GRCm39) G49V probably damaging Het
Cdk13 A C 13: 17,926,440 (GRCm39) F787V Het
Cdk5r1 T C 11: 80,368,480 (GRCm39) V49A probably benign Het
Cdon G A 9: 35,398,201 (GRCm39) V973I probably damaging Het
Cfap298 A T 16: 90,724,275 (GRCm39) M166K probably benign Het
Chd1l T A 3: 97,488,463 (GRCm39) K518* probably null Het
Col24a1 A G 3: 145,250,960 (GRCm39) D1653G probably benign Het
Cstf3 G T 2: 104,483,370 (GRCm39) V359F possibly damaging Het
Dchs2 T C 3: 83,178,193 (GRCm39) I1082T probably damaging Het
Dlec1 A T 9: 118,956,533 (GRCm39) I736F probably damaging Het
Dnah9 T C 11: 65,818,475 (GRCm39) N3288D probably benign Het
Dpcd G T 19: 45,560,422 (GRCm39) E82* probably null Het
Ehbp1 T C 11: 22,119,124 (GRCm39) D182G probably damaging Het
Eif1ad13 A G 12: 87,762,507 (GRCm39) I76V probably benign Het
Evc2 G T 5: 37,544,130 (GRCm39) E626D probably benign Het
Evi5 T C 5: 107,943,578 (GRCm39) E589G probably benign Het
Exoc4 T C 6: 33,226,161 (GRCm39) I25T probably benign Het
Extl2 T A 3: 115,821,145 (GRCm39) *331R probably null Het
Fkbp8 G A 8: 70,984,324 (GRCm39) R225H probably damaging Het
Foxred2 A T 15: 77,836,206 (GRCm39) S384T probably damaging Het
Garre1 A T 7: 33,947,656 (GRCm39) C451S probably damaging Het
Glmn T C 5: 107,741,731 (GRCm39) E18G probably damaging Het
Gm7489 C A 15: 53,749,368 (GRCm39) Q147K unknown Het
Gm7489 A C 15: 53,749,369 (GRCm39) Q147P unknown Het
Gm8005 T A 14: 42,260,355 (GRCm39) I94F Het
Golgb1 G A 16: 36,739,967 (GRCm39) V2810M probably benign Het
Gpr21 T C 2: 37,408,399 (GRCm39) L315P probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Herc6 T G 6: 57,629,017 (GRCm39) S643A probably benign Het
Igkv14-100 T A 6: 68,496,317 (GRCm39) I70N probably damaging Het
Kcnn3 A G 3: 89,516,703 (GRCm39) M371V probably benign Het
Kif1a T A 1: 92,953,416 (GRCm39) H1256L probably damaging Het
Klhdc4 A G 8: 122,527,917 (GRCm39) S266P possibly damaging Het
Kmt2d CTGTTG CTG 15: 98,743,057 (GRCm39) probably benign Het
Lefty2 T A 1: 180,722,286 (GRCm39) L208Q probably damaging Het
Lingo2 T C 4: 35,708,450 (GRCm39) Y510C probably damaging Het
Lrif1 T A 3: 106,639,200 (GRCm39) V70D probably damaging Het
Lrrc74a A T 12: 86,805,345 (GRCm39) K389I possibly damaging Het
Megf8 A T 7: 25,054,488 (GRCm39) E1868V probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mmp8 A G 9: 7,560,608 (GRCm39) D95G probably damaging Het
Mmrn1 T A 6: 60,953,408 (GRCm39) I563N probably damaging Het
Mroh3 T C 1: 136,118,713 (GRCm39) T535A probably benign Het
Mroh9 A G 1: 162,866,498 (GRCm39) L715P probably damaging Het
Myh6 G T 14: 55,201,054 (GRCm39) A136E probably benign Het
Myom1 G T 17: 71,412,475 (GRCm39) E1231* probably null Het
Nod2 G T 8: 89,397,101 (GRCm39) C837F probably benign Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Oas1a A T 5: 121,040,028 (GRCm39) S188T possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 T C 16: 29,430,255 (GRCm39) M394T Het
Or1e1d-ps1 T A 11: 73,819,375 (GRCm39) D108E possibly damaging Het
Or5an6 A T 19: 12,371,983 (GRCm39) M119L probably damaging Het
Or5p66 A G 7: 107,885,487 (GRCm39) M282T probably benign Het
Or7g21 T A 9: 19,032,760 (GRCm39) S167T probably benign Het
Or7g29 A G 9: 19,286,677 (GRCm39) S167P possibly damaging Het
Oxct2a T A 4: 123,217,129 (GRCm39) D84V probably damaging Het
Oxct2b A C 4: 123,011,019 (GRCm39) D313A probably damaging Het
Phldb3 G A 7: 24,328,372 (GRCm39) V639M probably damaging Het
Plppr4 T A 3: 117,115,610 (GRCm39) N749I probably benign Het
Pmp22 G T 11: 63,024,065 (GRCm39) V25F probably benign Het
Pofut2 A T 10: 77,101,763 (GRCm39) M267L probably benign Het
Ppp1r42 T A 1: 10,039,067 (GRCm39) N351I possibly damaging Het
Prl2b1 T C 13: 27,572,479 (GRCm39) E37G probably benign Het
Ptpro G T 6: 137,391,318 (GRCm39) V813F probably benign Het
Rnaseh2c T C 19: 5,652,343 (GRCm39) F99L probably benign Het
Scn9a T A 2: 66,363,708 (GRCm39) I857F probably damaging Het
Slf1 A G 13: 77,197,204 (GRCm39) probably null Het
Smyd2 T C 1: 189,612,983 (GRCm39) *434W probably null Het
Spata31h1 T A 10: 82,125,453 (GRCm39) N2519I possibly damaging Het
Stk40 A G 4: 126,030,650 (GRCm39) D290G probably damaging Het
Tdo2 C A 3: 81,879,001 (GRCm39) W82C probably damaging Het
Tmem101 A G 11: 102,044,194 (GRCm39) V231A probably damaging Het
Tns2 G A 15: 102,015,577 (GRCm39) E160K probably damaging Het
Trim31 A T 17: 37,212,551 (GRCm39) D174V probably benign Het
Unc13d A T 11: 115,961,144 (GRCm39) Y404* probably null Het
Ush2a C A 1: 188,092,063 (GRCm39) Y531* probably null Het
Vapa G A 17: 65,889,736 (GRCm39) P144S probably benign Het
Vmn1r212 C T 13: 23,067,443 (GRCm39) V297M possibly damaging Het
Vmn2r80 A C 10: 79,030,712 (GRCm39) N846T probably damaging Het
Zfp811 A G 17: 33,017,740 (GRCm39) V100A probably benign Het
Zfp958 T A 8: 4,678,298 (GRCm39) C108S probably damaging Het
Zic5 G A 14: 122,697,100 (GRCm39) T505I unknown Het
Other mutations in Nos2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01388:Nos2 APN 11 78,848,278 (GRCm39) missense probably damaging 0.96
IGL01503:Nos2 APN 11 78,836,689 (GRCm39) splice site probably benign
IGL01789:Nos2 APN 11 78,835,483 (GRCm39) splice site probably benign
IGL02797:Nos2 APN 11 78,831,170 (GRCm39) missense probably damaging 1.00
IGL02968:Nos2 APN 11 78,828,463 (GRCm39) missense probably damaging 1.00
R6762_Nos2_754 UTSW 11 78,850,574 (GRCm39) missense possibly damaging 0.90
R0035:Nos2 UTSW 11 78,836,553 (GRCm39) missense probably damaging 1.00
R0265:Nos2 UTSW 11 78,828,428 (GRCm39) missense probably damaging 0.98
R0441:Nos2 UTSW 11 78,819,409 (GRCm39) missense probably benign 0.10
R0504:Nos2 UTSW 11 78,830,903 (GRCm39) missense probably damaging 1.00
R0570:Nos2 UTSW 11 78,826,187 (GRCm39) missense possibly damaging 0.49
R1356:Nos2 UTSW 11 78,843,629 (GRCm39) missense probably benign 0.00
R1538:Nos2 UTSW 11 78,847,396 (GRCm39) missense probably benign 0.00
R3414:Nos2 UTSW 11 78,848,414 (GRCm39) missense probably benign 0.14
R3418:Nos2 UTSW 11 78,850,521 (GRCm39) missense possibly damaging 0.47
R4279:Nos2 UTSW 11 78,820,602 (GRCm39) missense probably benign 0.01
R4492:Nos2 UTSW 11 78,840,921 (GRCm39) missense probably benign
R4632:Nos2 UTSW 11 78,848,417 (GRCm39) missense possibly damaging 0.95
R4686:Nos2 UTSW 11 78,819,456 (GRCm39) missense possibly damaging 0.65
R5038:Nos2 UTSW 11 78,813,140 (GRCm39) missense probably benign
R5214:Nos2 UTSW 11 78,846,267 (GRCm39) missense probably damaging 1.00
R5377:Nos2 UTSW 11 78,848,317 (GRCm39) missense probably benign 0.00
R5777:Nos2 UTSW 11 78,830,978 (GRCm39) missense probably null 1.00
R5834:Nos2 UTSW 11 78,819,405 (GRCm39) missense probably benign 0.01
R5930:Nos2 UTSW 11 78,828,741 (GRCm39) missense probably damaging 1.00
R6511:Nos2 UTSW 11 78,846,290 (GRCm39) splice site probably null
R6706:Nos2 UTSW 11 78,835,549 (GRCm39) missense possibly damaging 0.60
R6747:Nos2 UTSW 11 78,843,780 (GRCm39) missense probably damaging 0.99
R6762:Nos2 UTSW 11 78,850,574 (GRCm39) missense possibly damaging 0.90
R6817:Nos2 UTSW 11 78,836,092 (GRCm39) missense possibly damaging 0.64
R6868:Nos2 UTSW 11 78,848,332 (GRCm39) missense probably benign 0.02
R6917:Nos2 UTSW 11 78,842,053 (GRCm39) missense possibly damaging 0.50
R7082:Nos2 UTSW 11 78,819,405 (GRCm39) missense probably benign 0.02
R7286:Nos2 UTSW 11 78,820,680 (GRCm39) missense probably damaging 1.00
R7367:Nos2 UTSW 11 78,840,916 (GRCm39) missense possibly damaging 0.77
R7398:Nos2 UTSW 11 78,827,297 (GRCm39) nonsense probably null
R7411:Nos2 UTSW 11 78,835,681 (GRCm39) critical splice donor site probably null
R7469:Nos2 UTSW 11 78,843,797 (GRCm39) missense possibly damaging 0.94
R7736:Nos2 UTSW 11 78,813,192 (GRCm39) nonsense probably null
R8694:Nos2 UTSW 11 78,836,515 (GRCm39) missense possibly damaging 0.93
R8832:Nos2 UTSW 11 78,846,290 (GRCm39) splice site probably null
R8872:Nos2 UTSW 11 78,839,949 (GRCm39) missense probably damaging 0.99
R8952:Nos2 UTSW 11 78,836,089 (GRCm39) missense probably benign 0.00
R9433:Nos2 UTSW 11 78,850,490 (GRCm39) missense probably damaging 1.00
R9580:Nos2 UTSW 11 78,828,457 (GRCm39) missense probably benign 0.01
R9727:Nos2 UTSW 11 78,843,825 (GRCm39) missense possibly damaging 0.51
R9747:Nos2 UTSW 11 78,822,472 (GRCm39) missense probably damaging 0.96
X0063:Nos2 UTSW 11 78,813,193 (GRCm39) missense probably benign 0.01
Z1177:Nos2 UTSW 11 78,822,498 (GRCm39) 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