Incidental Mutation 'R4279:Nos2'
| ID |
322810 |
| 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 |
041079-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4279 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78811613-78851052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 78820602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 69
(L69Q)
|
| 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 benign
Transcript: ENSMUST00000018610
AA Change: L69Q
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826
AA Change: L69Q
| 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 |
noncoding transcript
Transcript: ENSMUST00000208783
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209121
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000214397
|
| Meta Mutation Damage Score |
0.0991 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (40/41) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
A |
15: 96,269,637 (GRCm39) |
L1250Q |
probably damaging |
Het |
| Ccdc73 |
A |
T |
2: 104,815,355 (GRCm39) |
N364Y |
possibly damaging |
Het |
| Ccl25 |
T |
A |
8: 4,399,829 (GRCm39) |
L56Q |
probably damaging |
Het |
| Ctnnd2 |
C |
A |
15: 30,905,966 (GRCm39) |
A871E |
probably damaging |
Het |
| Cyp2b23 |
C |
T |
7: 26,365,452 (GRCm39) |
S461N |
possibly damaging |
Het |
| Dgat2 |
C |
A |
7: 98,813,912 (GRCm39) |
G120V |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,369,207 (GRCm39) |
I768F |
probably damaging |
Het |
| Dzank1 |
T |
C |
2: 144,333,765 (GRCm39) |
E356G |
probably benign |
Het |
| Fam120a |
A |
T |
13: 49,042,734 (GRCm39) |
V889D |
probably benign |
Het |
| Fxyd5 |
C |
A |
7: 30,734,811 (GRCm39) |
D139Y |
probably null |
Het |
| Gcnt2 |
T |
C |
13: 41,041,666 (GRCm39) |
V275A |
probably benign |
Het |
| Gimap4 |
A |
G |
6: 48,667,511 (GRCm39) |
I89V |
probably benign |
Het |
| Gm6578 |
G |
A |
6: 12,100,187 (GRCm39) |
|
noncoding transcript |
Het |
| Jmjd8 |
A |
G |
17: 26,048,787 (GRCm39) |
|
probably benign |
Het |
| Jmy |
G |
C |
13: 93,635,390 (GRCm39) |
P142R |
probably damaging |
Het |
| Jmy |
C |
A |
13: 93,635,781 (GRCm39) |
D12Y |
probably damaging |
Het |
| Kif13b |
G |
T |
14: 65,016,805 (GRCm39) |
A1324S |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,563,121 (GRCm39) |
S629P |
unknown |
Het |
| Lpar1 |
A |
G |
4: 58,487,115 (GRCm39) |
V52A |
possibly damaging |
Het |
| Lrp5 |
A |
G |
19: 3,641,778 (GRCm39) |
S1395P |
possibly damaging |
Het |
| Mogs |
T |
C |
6: 83,093,048 (GRCm39) |
L132P |
probably damaging |
Het |
| Ncam1 |
C |
A |
9: 49,418,259 (GRCm39) |
|
probably benign |
Het |
| Ndufs8 |
A |
T |
19: 3,961,014 (GRCm39) |
F88I |
probably damaging |
Het |
| Or51a6 |
T |
A |
7: 102,604,292 (GRCm39) |
Q179L |
probably benign |
Het |
| Pls3 |
A |
T |
X: 74,846,138 (GRCm39) |
I192N |
probably benign |
Het |
| Psmd6 |
T |
C |
14: 14,112,297 (GRCm38) |
N388S |
possibly damaging |
Het |
| Rrbp1 |
T |
C |
2: 143,805,028 (GRCm39) |
T1046A |
probably benign |
Het |
| Scn11a |
T |
C |
9: 119,583,428 (GRCm39) |
E1729G |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,692,953 (GRCm39) |
D191G |
possibly damaging |
Het |
| Slc9a1 |
T |
C |
4: 133,139,400 (GRCm39) |
F206S |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,273,886 (GRCm39) |
*968W |
probably null |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Unc13a |
T |
C |
8: 72,119,311 (GRCm39) |
K9R |
probably damaging |
Het |
| Vegfa |
A |
G |
17: 46,342,392 (GRCm39) |
V142A |
probably benign |
Het |
| Vmn1r119 |
T |
A |
7: 20,745,786 (GRCm39) |
M199L |
probably benign |
Het |
| Vnn1 |
A |
T |
10: 23,774,410 (GRCm39) |
D151V |
possibly damaging |
Het |
| Zfp365 |
A |
T |
10: 67,733,431 (GRCm39) |
F254I |
probably benign |
Het |
|
| Other mutations in Nos2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
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 |
|
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'- GAATTCCCCTTATGAGCCAGC -3'
(R):5'- CCAGGAAATATGTGATAGACCCAC -3'
Sequencing Primer
(F):5'- GACAGAAGTCTGGCCTTGGTC -3'
(R):5'- CCACAAAGGGCCCTTATGATGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation