Incidental Mutation 'R5930:Nos2'
ID 460196
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 044125-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5930 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 78811613-78851052 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78828741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Serine at position 321 (L321S)
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: L321S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826
AA Change: L321S

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: L208S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.5%
Validation Efficiency 94% (102/109)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 C T 13: 81,545,570 (GRCm39) V5572I probably benign Het
Agap1 C T 1: 89,770,818 (GRCm39) T656I probably damaging Het
Als2cl C T 9: 110,716,432 (GRCm39) R247W probably damaging Het
Ankfy1 A T 11: 72,603,071 (GRCm39) R33S probably benign Het
Ano5 T C 7: 51,235,079 (GRCm39) F671L probably damaging Het
Arhgap26 A G 18: 39,283,145 (GRCm39) M361V probably damaging Het
Bckdk A G 7: 127,505,145 (GRCm39) E175G probably damaging Het
Bptf G T 11: 106,964,022 (GRCm39) T1724K probably damaging Het
Btn2a2 T A 13: 23,670,398 (GRCm39) I112F probably damaging Het
Cln8 T A 8: 14,946,621 (GRCm39) W212R probably damaging Het
Cnbd1 T C 4: 18,886,119 (GRCm39) E300G probably benign Het
Cnksr3 T C 10: 7,092,993 (GRCm39) I173V probably benign Het
Cntn2 T A 1: 132,451,170 (GRCm39) D484V probably damaging Het
Cyp4a14 C A 4: 115,348,607 (GRCm39) G319V probably damaging Het
Cyp4f37 G A 17: 32,848,957 (GRCm39) R275Q possibly damaging Het
Def8 C T 8: 124,186,809 (GRCm39) probably benign Het
Dnaaf4 T C 9: 72,879,280 (GRCm39) V356A probably damaging Het
Dnah10 T C 5: 124,868,855 (GRCm39) probably null Het
Dock6 A G 9: 21,735,712 (GRCm39) V1012A probably benign Het
Dus3l T A 17: 57,076,579 (GRCm39) N586K probably damaging Het
Dyrk2 T A 10: 118,696,173 (GRCm39) I362F probably damaging Het
Eeig2 A T 3: 108,887,468 (GRCm39) S265R probably benign Het
Erc2 T A 14: 27,498,815 (GRCm39) D230E probably damaging Het
Fat1 A G 8: 45,497,073 (GRCm39) H4186R probably benign Het
Fbxo44 A G 4: 148,241,052 (GRCm39) F179S probably damaging Het
Fech A G 18: 64,611,720 (GRCm39) probably null Het
Fer1l5 T A 1: 36,424,254 (GRCm39) C289* probably null Het
Fhl5 T A 4: 25,214,756 (GRCm39) D7V probably benign Het
Flvcr1 G T 1: 190,741,748 (GRCm39) T514K probably damaging Het
Fmo1 A T 1: 162,667,185 (GRCm39) probably null Het
Gabra6 G A 11: 42,198,268 (GRCm39) T384M probably benign Het
Gli3 A G 13: 15,723,210 (GRCm39) Y117C probably damaging Het
Gnao1 A G 8: 94,622,873 (GRCm39) D59G probably benign Het
Gria2 T C 3: 80,614,556 (GRCm39) I495V possibly damaging Het
Hnf1b C A 11: 83,754,811 (GRCm39) H161Q probably benign Het
Itga8 T A 2: 12,235,019 (GRCm39) D413V possibly damaging Het
Itpr3 A T 17: 27,329,895 (GRCm39) Q1563L possibly damaging Het
Kctd16 A G 18: 40,663,882 (GRCm39) N337S probably benign Het
Klra4 C T 6: 130,030,016 (GRCm39) V190M possibly damaging Het
Krtap4-9 T A 11: 99,676,462 (GRCm39) probably benign Het
L3mbtl1 GGCCG GG 2: 162,809,256 (GRCm39) probably benign Het
Mchr1 T C 15: 81,122,044 (GRCm39) F265L probably damaging Het
Megf8 T A 7: 25,025,866 (GRCm39) Y83* probably null Het
Mettl18 A G 1: 163,824,746 (GRCm39) M356V probably null Het
Mrm1 G A 11: 84,710,018 (GRCm39) R61W probably damaging Het
Muc4 A T 16: 32,570,523 (GRCm39) T528S probably benign Het
Myef2 A T 2: 124,937,651 (GRCm39) L530* probably null Het
Nhlrc4 T C 17: 26,162,693 (GRCm39) E18G probably benign Het
Nisch C T 14: 30,895,102 (GRCm39) V1065I probably benign Het
Nlgn2 C T 11: 69,724,975 (GRCm39) R97H probably damaging Het
Oaz3 T C 3: 94,343,717 (GRCm39) M49V possibly damaging Het
Olfm5 A G 7: 103,803,362 (GRCm39) V367A probably damaging Het
Omd C T 13: 49,743,112 (GRCm39) P54L possibly damaging Het
Or10ak12 C T 4: 118,666,575 (GRCm39) R162H probably benign Het
Or11g26 C A 14: 50,753,249 (GRCm39) A196D probably benign Het
Or2g7 C A 17: 38,378,641 (GRCm39) A193D probably benign Het
Or51f23 A T 7: 102,453,481 (GRCm39) R265S probably damaging Het
Or7d10 A G 9: 19,832,206 (GRCm39) K234E probably damaging Het
Pard3b T A 1: 61,807,289 (GRCm39) probably benign Het
Pcdhb18 A C 18: 37,624,988 (GRCm39) I773L possibly damaging Het
Pde11a T C 2: 75,970,175 (GRCm39) probably null Het
Pfkfb4 A C 9: 108,859,462 (GRCm39) probably benign Het
Phb2 T G 6: 124,692,612 (GRCm39) I260S probably damaging Het
Pkd1l1 G A 11: 8,908,969 (GRCm39) T345I unknown Het
Pla2g6 T C 15: 79,187,728 (GRCm39) probably benign Het
Pou4f2 G A 8: 79,163,020 (GRCm39) S5F unknown Het
Ppp1r9a A T 6: 5,157,002 (GRCm39) probably null Het
Pramel5 A G 4: 143,999,553 (GRCm39) I178T probably benign Het
Prom2 C T 2: 127,372,053 (GRCm39) W745* probably null Het
Pros1 T A 16: 62,748,424 (GRCm39) N632K probably damaging Het
Rab4b A G 7: 26,873,927 (GRCm39) I117T probably benign Het
Rbm25 T A 12: 83,724,640 (GRCm39) H796Q possibly damaging Het
Rnf151 A T 17: 24,937,004 (GRCm39) probably null Het
Rps6ka1 A T 4: 133,598,882 (GRCm39) L97I probably damaging Het
Scart1 C T 7: 139,810,359 (GRCm39) P984S probably benign Het
Semp2l2a T A 8: 13,887,263 (GRCm39) D276V probably benign Het
Sergef T A 7: 46,092,888 (GRCm39) T374S probably benign Het
Sh3rf3 G T 10: 58,966,808 (GRCm39) G717C probably damaging Het
Slc29a4 C T 5: 142,707,157 (GRCm39) T500I possibly damaging Het
Smc1b T A 15: 84,970,322 (GRCm39) D977V probably damaging Het
Spata31d1d C T 13: 59,874,829 (GRCm39) C902Y probably benign Het
St14 A T 9: 31,015,056 (GRCm39) V314D probably damaging Het
Stat3 A T 11: 100,784,496 (GRCm39) I602N possibly damaging Het
Stx4a T A 7: 127,445,661 (GRCm39) I189N probably damaging Het
Tacc1 A G 8: 25,672,215 (GRCm39) S338P probably benign Het
Tcirg1 T A 19: 3,952,424 (GRCm39) T315S possibly damaging Het
Tenm4 A T 7: 96,503,926 (GRCm39) N1295I probably damaging Het
Tm7sf3 T C 6: 146,505,409 (GRCm39) K516E possibly damaging Het
Tmem198b T C 10: 128,637,323 (GRCm39) E272G possibly damaging Het
Tnip3 A G 6: 65,582,937 (GRCm39) Q237R probably damaging Het
Trim15 C T 17: 37,173,252 (GRCm39) probably null Het
Trim30a T A 7: 104,070,657 (GRCm39) N252I possibly damaging Het
Ttc39a A G 4: 109,288,075 (GRCm39) E227G probably benign Het
Ttll13 A G 7: 79,902,914 (GRCm39) E194G probably damaging Het
Upf1 G A 8: 70,796,912 (GRCm39) T107I probably benign Het
Vac14 A G 8: 111,436,981 (GRCm39) I565V probably damaging Het
Zcchc14 A T 8: 122,338,097 (GRCm39) probably benign 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
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
R9612:Nos2 UTSW 11 78,839,984 (GRCm39) missense probably damaging 1.00
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'- CTTGGAGTTCACCCAGGTAC -3'
(R):5'- TGGTAACCATCAGCAGTTCC -3'

Sequencing Primer
(F):5'- AGGTACTGACTCAGCCTCTCCTAG -3'
(R):5'- TTCCACATAAAGCGAGGCTG -3'
Posted On 2017-02-28