Incidental Mutation 'R5214:Nos2'
| ID |
403364 |
| 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 |
042787-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5214 (G1)
|
| Quality Score |
220 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
78811613-78851052 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 78846267 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 878
(L878P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000150558
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018610]
[ENSMUST00000214397]
|
| AlphaFold |
P29477 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000018610
AA Change: L991P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000018610
Gene: ENSMUSG00000020826
AA Change: L991P
| 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 |
probably damaging
Transcript: ENSMUST00000214397
AA Change: L878P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.3987 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
100% (77/77) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061I17Rik |
A |
G |
3: 116,861,424 (GRCm39) |
|
noncoding transcript |
Het |
| 4930449A18Rik |
A |
T |
3: 59,733,305 (GRCm39) |
|
noncoding transcript |
Het |
| Acsbg3 |
T |
C |
17: 57,193,493 (GRCm39) |
V613A |
probably benign |
Het |
| Adgrl1 |
G |
A |
8: 84,642,202 (GRCm39) |
|
probably null |
Het |
| Aldh1l1 |
A |
G |
6: 90,540,399 (GRCm39) |
D228G |
probably damaging |
Het |
| Ankrd17 |
T |
C |
5: 90,431,319 (GRCm39) |
I822V |
possibly damaging |
Het |
| Atm |
C |
A |
9: 53,402,327 (GRCm39) |
A1382S |
probably benign |
Het |
| Bltp3a |
G |
A |
17: 28,106,489 (GRCm39) |
S1005N |
probably benign |
Het |
| Cacna1e |
T |
A |
1: 154,577,110 (GRCm39) |
I96F |
possibly damaging |
Het |
| Calhm5 |
A |
G |
10: 33,968,487 (GRCm39) |
S189P |
probably damaging |
Het |
| Ccar1 |
G |
A |
10: 62,606,740 (GRCm39) |
R335C |
probably damaging |
Het |
| Ccdc113 |
T |
C |
8: 96,272,601 (GRCm39) |
I236T |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,525,225 (GRCm39) |
S125T |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdon |
T |
C |
9: 35,394,504 (GRCm39) |
C917R |
probably damaging |
Het |
| Ckap2l |
T |
C |
2: 129,127,389 (GRCm39) |
D263G |
probably benign |
Het |
| Cntnap3 |
G |
T |
13: 64,909,824 (GRCm39) |
H760Q |
probably damaging |
Het |
| Dennd2d |
G |
A |
3: 106,393,637 (GRCm39) |
|
probably null |
Het |
| Dock4 |
A |
G |
12: 40,754,465 (GRCm39) |
I485V |
probably benign |
Het |
| Dspp |
A |
G |
5: 104,326,364 (GRCm39) |
D909G |
unknown |
Het |
| Eps8 |
A |
T |
6: 137,504,490 (GRCm39) |
M81K |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,917,452 (GRCm39) |
S3491P |
probably damaging |
Het |
| Gm17669 |
C |
T |
18: 67,695,479 (GRCm39) |
T8I |
possibly damaging |
Het |
| Gm5114 |
G |
T |
7: 39,057,792 (GRCm39) |
T609K |
probably benign |
Het |
| Gm973 |
A |
G |
1: 59,565,880 (GRCm39) |
N32S |
probably damaging |
Het |
| Herpud1 |
G |
T |
8: 95,117,479 (GRCm39) |
|
probably null |
Het |
| Jcad |
T |
A |
18: 4,674,134 (GRCm39) |
L632Q |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,205,486 (GRCm39) |
L527S |
probably damaging |
Het |
| Klk1b11 |
C |
A |
7: 43,647,266 (GRCm39) |
H67N |
probably benign |
Het |
| Ldhb |
T |
A |
6: 142,441,321 (GRCm39) |
I190F |
probably damaging |
Het |
| Lrrc34 |
A |
T |
3: 30,690,397 (GRCm39) |
C168* |
probably null |
Het |
| Lrtm1 |
C |
T |
14: 28,743,651 (GRCm39) |
H40Y |
possibly damaging |
Het |
| Mageb3 |
T |
C |
2: 121,785,319 (GRCm39) |
M128V |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,261,208 (GRCm39) |
T90A |
probably benign |
Het |
| Msantd5 |
C |
A |
11: 51,125,675 (GRCm39) |
H199Q |
possibly damaging |
Het |
| Ndrg1 |
G |
A |
15: 66,831,239 (GRCm39) |
T24I |
probably damaging |
Het |
| Or11g27 |
T |
G |
14: 50,771,804 (GRCm39) |
*312E |
probably null |
Het |
| Pcdhgb1 |
T |
A |
18: 37,814,478 (GRCm39) |
I323N |
probably damaging |
Het |
| Plec |
A |
G |
15: 76,061,921 (GRCm39) |
I2537T |
probably damaging |
Het |
| Pnpo |
C |
A |
11: 96,833,295 (GRCm39) |
E68D |
probably benign |
Het |
| Ppp6r1 |
C |
T |
7: 4,646,176 (GRCm39) |
R175Q |
probably benign |
Het |
| Prnp |
C |
T |
2: 131,778,924 (GRCm39) |
T192I |
probably damaging |
Het |
| Ptprb |
T |
C |
10: 116,205,229 (GRCm39) |
I2148T |
possibly damaging |
Het |
| Raf1 |
G |
T |
6: 115,614,583 (GRCm39) |
F99L |
possibly damaging |
Het |
| Rbks |
A |
G |
5: 31,807,736 (GRCm39) |
|
probably benign |
Het |
| Rlf |
T |
C |
4: 121,007,897 (GRCm39) |
D361G |
probably damaging |
Het |
| Rnpepl1 |
G |
T |
1: 92,847,001 (GRCm39) |
D608Y |
probably benign |
Het |
| Scaf1 |
G |
A |
7: 44,652,662 (GRCm39) |
|
probably benign |
Het |
| Sh3rf1 |
A |
T |
8: 61,825,765 (GRCm39) |
M587L |
probably damaging |
Het |
| Slc22a21 |
A |
T |
11: 53,843,869 (GRCm39) |
S473T |
probably damaging |
Het |
| Syt15 |
A |
G |
14: 33,943,703 (GRCm39) |
D84G |
possibly damaging |
Het |
| Tbc1d19 |
T |
C |
5: 54,007,183 (GRCm39) |
L236P |
probably benign |
Het |
| Tbx2 |
G |
T |
11: 85,729,263 (GRCm39) |
A549S |
probably benign |
Het |
| Tc2n |
A |
T |
12: 101,659,461 (GRCm39) |
C157* |
probably null |
Het |
| Tecta |
C |
T |
9: 42,256,964 (GRCm39) |
V1571I |
probably benign |
Het |
| Them4 |
A |
G |
3: 94,224,818 (GRCm39) |
K65R |
probably benign |
Het |
| Tmc5 |
C |
T |
7: 118,247,155 (GRCm39) |
T553M |
probably damaging |
Het |
| Tmem200c |
C |
T |
17: 69,148,122 (GRCm39) |
A235V |
probably damaging |
Het |
| Tmem8b |
G |
A |
4: 43,673,992 (GRCm39) |
V208I |
probably benign |
Het |
| Tmf1 |
G |
C |
6: 97,144,253 (GRCm39) |
A701G |
possibly damaging |
Het |
| Tomm70a |
G |
A |
16: 56,942,300 (GRCm39) |
G26S |
unknown |
Het |
| Treh |
T |
C |
9: 44,594,173 (GRCm39) |
Y140H |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,325,489 (GRCm39) |
|
probably benign |
Het |
| Uba7 |
T |
C |
9: 107,854,713 (GRCm39) |
|
probably benign |
Het |
| Ube4a |
T |
C |
9: 44,860,166 (GRCm39) |
I299V |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,468,701 (GRCm39) |
K2953T |
probably damaging |
Het |
| Zfp280d |
T |
A |
9: 72,215,395 (GRCm39) |
|
probably benign |
Het |
| Zscan20 |
G |
A |
4: 128,482,109 (GRCm39) |
R518C |
probably benign |
Het |
| Zw10 |
T |
C |
9: 48,975,463 (GRCm39) |
I296T |
possibly damaging |
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 |
|
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 |
|
|
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'- ATCCTGCATGTGCTCCTAGC -3'
(R):5'- GAGGCAAGCATTTAAAACCCAG -3'
Sequencing Primer
(F):5'- TAGCCTGGGATATCTGCAGAC -3'
(R):5'- CTGACAAGCTGAATCTGATTCCTGG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation