Incidental Mutation 'R1830:Nos3'
| ID |
207215 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nos3
|
| Ensembl Gene |
ENSMUSG00000028978 |
| Gene Name |
nitric oxide synthase 3, endothelial cell |
| Synonyms |
2310065A03Rik, ecNOS, eNOS, Nos-3 |
| MMRRC Submission |
039857-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1830 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24569808-24589472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24575131 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 356
(Y356H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030834]
[ENSMUST00000115090]
|
| AlphaFold |
P70313 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030834
AA Change: Y356H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: Y356H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
Pfam:NO_synthase
|
118 |
480 |
1.7e-183 |
PFAM |
|
Pfam:Flavodoxin_1
|
521 |
697 |
4.8e-54 |
PFAM |
|
Pfam:FAD_binding_1
|
750 |
978 |
2.1e-82 |
PFAM |
|
Pfam:NAD_binding_1
|
1010 |
1124 |
1.9e-18 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115090
AA Change: Y356H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: Y356H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
31 |
57 |
N/A |
INTRINSIC |
|
Pfam:NO_synthase
|
114 |
485 |
9e-214 |
PFAM |
|
Pfam:Flavodoxin_1
|
521 |
697 |
3.8e-54 |
PFAM |
|
Pfam:FAD_binding_1
|
750 |
978 |
1.6e-79 |
PFAM |
|
Pfam:NAD_binding_1
|
1010 |
1091 |
5.6e-12 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146326
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156403
|
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.2%
- 20x: 92.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nitric oxide is a reactive free radical which acts as a biologic mediator in several processes, including neurotransmission and antimicrobial and antitumoral activities. Nitric oxide is synthesized from L-arginine by nitric oxide synthases. Variations in this gene are associated with susceptibility to coronary spasm. Alternative splicing and the use of alternative promoters results in multiple transcript variants. [provided by RefSeq, Oct 2016]
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced survival, hypertension, inhibited basal vasodilation, insulin resistance, fewer mitochondria, reduced heart rate, impaired ovulation and, in some, shortened limbs. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,350 (GRCm39) |
S738P |
probably benign |
Het |
| Abi3bp |
C |
A |
16: 56,408,348 (GRCm39) |
P261Q |
probably damaging |
Het |
| Adam19 |
A |
G |
11: 46,018,105 (GRCm39) |
N389S |
probably damaging |
Het |
| Adgrv1 |
A |
T |
13: 81,637,196 (GRCm39) |
V3415D |
possibly damaging |
Het |
| Ankrd33 |
A |
T |
15: 101,017,432 (GRCm39) |
I282F |
probably damaging |
Het |
| Arhgap39 |
C |
T |
15: 76,619,383 (GRCm39) |
V734M |
probably damaging |
Het |
| Arsg |
T |
C |
11: 109,454,100 (GRCm39) |
|
probably null |
Het |
| Atp8b4 |
C |
T |
2: 126,245,301 (GRCm39) |
G283R |
probably benign |
Het |
| B3galnt2 |
T |
G |
13: 14,166,119 (GRCm39) |
L338* |
probably null |
Het |
| Cdc14a |
A |
T |
3: 116,216,296 (GRCm39) |
Y1* |
probably null |
Het |
| Ceacam16 |
T |
C |
7: 19,592,803 (GRCm39) |
E35G |
possibly damaging |
Het |
| Cfap46 |
T |
A |
7: 139,220,323 (GRCm39) |
D1244V |
possibly damaging |
Het |
| Chordc1 |
T |
C |
9: 18,223,274 (GRCm39) |
Y245H |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,579,469 (GRCm39) |
V1919F |
probably damaging |
Het |
| Colgalt1 |
T |
C |
8: 72,075,781 (GRCm39) |
V476A |
probably damaging |
Het |
| Cped1 |
T |
C |
6: 22,237,727 (GRCm39) |
C948R |
probably damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,089,846 (GRCm39) |
D1189G |
probably damaging |
Het |
| Cyp27b1 |
T |
C |
10: 126,884,952 (GRCm39) |
Y72H |
possibly damaging |
Het |
| Dagla |
A |
G |
19: 10,248,378 (GRCm39) |
M94T |
probably benign |
Het |
| Dip2a |
A |
G |
10: 76,153,797 (GRCm39) |
S178P |
probably damaging |
Het |
| Dlec1 |
T |
C |
9: 118,967,858 (GRCm39) |
V1220A |
probably benign |
Het |
| Dpysl2 |
T |
C |
14: 67,105,840 (GRCm39) |
|
probably benign |
Het |
| E2f6 |
T |
C |
12: 16,868,884 (GRCm39) |
V69A |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,826,636 (GRCm39) |
T4439A |
probably benign |
Het |
| Fn1 |
T |
C |
1: 71,663,418 (GRCm39) |
I1023M |
probably damaging |
Het |
| Gabrr2 |
G |
A |
4: 33,077,481 (GRCm39) |
V83M |
probably damaging |
Het |
| Gfral |
T |
C |
9: 76,100,485 (GRCm39) |
N318D |
probably benign |
Het |
| Gm5611 |
A |
T |
9: 16,942,073 (GRCm39) |
|
noncoding transcript |
Het |
| Gpat3 |
A |
T |
5: 101,041,046 (GRCm39) |
M369L |
probably benign |
Het |
| Grik5 |
T |
C |
7: 24,745,726 (GRCm39) |
D449G |
possibly damaging |
Het |
| Gucy2g |
T |
A |
19: 55,211,362 (GRCm39) |
T623S |
possibly damaging |
Het |
| H2-T22 |
T |
C |
17: 36,352,434 (GRCm39) |
T164A |
probably benign |
Het |
| Herc1 |
T |
A |
9: 66,404,881 (GRCm39) |
C4484S |
possibly damaging |
Het |
| Hira |
T |
C |
16: 18,766,164 (GRCm39) |
S659P |
probably damaging |
Het |
| Hoxa7 |
T |
C |
6: 52,194,307 (GRCm39) |
T27A |
possibly damaging |
Het |
| Hoxd1 |
T |
C |
2: 74,593,866 (GRCm39) |
S141P |
probably damaging |
Het |
| Kank1 |
C |
A |
19: 25,388,396 (GRCm39) |
Q690K |
probably benign |
Het |
| Kera |
A |
G |
10: 97,445,009 (GRCm39) |
K123E |
probably benign |
Het |
| Kifbp |
T |
C |
10: 62,395,106 (GRCm39) |
Y512C |
probably damaging |
Het |
| Lepr |
A |
C |
4: 101,592,874 (GRCm39) |
Y163S |
probably damaging |
Het |
| Leprotl1 |
T |
C |
8: 34,607,922 (GRCm39) |
I29V |
probably benign |
Het |
| Lrriq1 |
T |
G |
10: 102,997,620 (GRCm39) |
T1332P |
probably benign |
Het |
| Mrps15 |
A |
G |
4: 125,949,200 (GRCm39) |
K223E |
probably damaging |
Het |
| Mrps7 |
T |
A |
11: 115,497,811 (GRCm39) |
N225K |
probably benign |
Het |
| Nav3 |
T |
A |
10: 109,659,184 (GRCm39) |
D811V |
probably damaging |
Het |
| Ndst3 |
T |
A |
3: 123,342,587 (GRCm39) |
R741S |
probably damaging |
Het |
| Nxpe3 |
A |
G |
16: 55,686,444 (GRCm39) |
V188A |
probably damaging |
Het |
| Or13n4 |
T |
C |
7: 106,423,317 (GRCm39) |
R139G |
probably benign |
Het |
| Or5p50 |
T |
A |
7: 107,422,578 (GRCm39) |
I33F |
probably benign |
Het |
| Or8j3b |
T |
C |
2: 86,205,487 (GRCm39) |
K90E |
possibly damaging |
Het |
| Pdia4 |
A |
T |
6: 47,773,695 (GRCm39) |
C551* |
probably null |
Het |
| Pex13 |
A |
G |
11: 23,605,513 (GRCm39) |
F239S |
probably damaging |
Het |
| Pigq |
A |
G |
17: 26,153,980 (GRCm39) |
M273T |
probably benign |
Het |
| Plppr2 |
C |
T |
9: 21,859,047 (GRCm39) |
P388L |
probably damaging |
Het |
| Polr3b |
C |
T |
10: 84,528,786 (GRCm39) |
Q737* |
probably null |
Het |
| Ppfibp1 |
T |
C |
6: 146,923,757 (GRCm39) |
|
probably null |
Het |
| Ppfibp2 |
C |
A |
7: 107,236,504 (GRCm39) |
D17E |
probably damaging |
Het |
| Pramel34 |
A |
T |
5: 93,785,545 (GRCm39) |
I245K |
probably benign |
Het |
| Prr35 |
T |
C |
17: 26,165,691 (GRCm39) |
D532G |
possibly damaging |
Het |
| Ptpn13 |
A |
G |
5: 103,691,325 (GRCm39) |
D1064G |
probably benign |
Het |
| Qtrt2 |
A |
T |
16: 43,692,018 (GRCm39) |
S168T |
probably damaging |
Het |
| Rbp3 |
T |
C |
14: 33,676,601 (GRCm39) |
V183A |
probably benign |
Het |
| Shprh |
T |
C |
10: 11,062,655 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
T |
C |
1: 46,875,230 (GRCm39) |
H24R |
probably damaging |
Het |
| Slc7a13 |
A |
T |
4: 19,819,046 (GRCm39) |
H82L |
probably benign |
Het |
| Sptbn2 |
A |
G |
19: 4,782,569 (GRCm39) |
I502V |
probably benign |
Het |
| Syne2 |
C |
T |
12: 76,156,636 (GRCm39) |
R6811C |
probably damaging |
Het |
| Syt12 |
A |
G |
19: 4,506,911 (GRCm39) |
V78A |
probably benign |
Het |
| Tbck |
T |
A |
3: 132,543,772 (GRCm39) |
D874E |
probably benign |
Het |
| Tesc |
A |
T |
5: 118,184,394 (GRCm39) |
I25L |
probably damaging |
Het |
| Thoc5 |
T |
G |
11: 4,864,608 (GRCm39) |
D351E |
probably benign |
Het |
| Tor1aip1 |
A |
T |
1: 155,883,308 (GRCm39) |
M180K |
probably damaging |
Het |
| Trps1 |
T |
C |
15: 50,524,532 (GRCm39) |
S842G |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 103,100,737 (GRCm39) |
T1858S |
probably damaging |
Het |
| Vmn1r193 |
T |
C |
13: 22,403,561 (GRCm39) |
T144A |
probably benign |
Het |
| Vwa8 |
T |
C |
14: 79,318,576 (GRCm39) |
F1046S |
probably benign |
Het |
| Wdr26 |
A |
T |
1: 181,019,340 (GRCm39) |
W346R |
probably damaging |
Het |
| Zfp740 |
T |
A |
15: 102,116,336 (GRCm39) |
V22E |
probably damaging |
Het |
| Zw10 |
C |
A |
9: 48,981,041 (GRCm39) |
S480R |
probably damaging |
Het |
|
| Other mutations in Nos3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00903:Nos3
|
APN |
5 |
24,574,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02059:Nos3
|
APN |
5 |
24,573,996 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02354:Nos3
|
APN |
5 |
24,572,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02361:Nos3
|
APN |
5 |
24,572,621 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Nos3
|
APN |
5 |
24,585,991 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03190:Nos3
|
APN |
5 |
24,588,627 (GRCm39) |
missense |
probably damaging |
1.00 |
|
paul
|
UTSW |
5 |
24,577,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Peter
|
UTSW |
5 |
24,582,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0111:Nos3
|
UTSW |
5 |
24,577,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0387:Nos3
|
UTSW |
5 |
24,572,583 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0755:Nos3
|
UTSW |
5 |
24,572,295 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1156:Nos3
|
UTSW |
5 |
24,582,617 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1597:Nos3
|
UTSW |
5 |
24,573,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1671:Nos3
|
UTSW |
5 |
24,588,838 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1743:Nos3
|
UTSW |
5 |
24,582,310 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1882:Nos3
|
UTSW |
5 |
24,573,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2294:Nos3
|
UTSW |
5 |
24,569,855 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3114:Nos3
|
UTSW |
5 |
24,577,629 (GRCm39) |
splice site |
probably benign |
|
|
R3978:Nos3
|
UTSW |
5 |
24,582,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3980:Nos3
|
UTSW |
5 |
24,582,929 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4016:Nos3
|
UTSW |
5 |
24,576,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4905:Nos3
|
UTSW |
5 |
24,572,329 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4947:Nos3
|
UTSW |
5 |
24,582,853 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5017:Nos3
|
UTSW |
5 |
24,571,717 (GRCm39) |
intron |
probably benign |
|
|
R5095:Nos3
|
UTSW |
5 |
24,573,916 (GRCm39) |
splice site |
probably benign |
|
|
R5096:Nos3
|
UTSW |
5 |
24,576,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5102:Nos3
|
UTSW |
5 |
24,576,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5311:Nos3
|
UTSW |
5 |
24,582,343 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5330:Nos3
|
UTSW |
5 |
24,574,902 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5367:Nos3
|
UTSW |
5 |
24,576,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5394:Nos3
|
UTSW |
5 |
24,588,888 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5574:Nos3
|
UTSW |
5 |
24,573,859 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5889:Nos3
|
UTSW |
5 |
24,573,775 (GRCm39) |
intron |
probably benign |
|
|
R6032:Nos3
|
UTSW |
5 |
24,584,809 (GRCm39) |
missense |
probably benign |
|
|
R6032:Nos3
|
UTSW |
5 |
24,584,809 (GRCm39) |
missense |
probably benign |
|
|
R6401:Nos3
|
UTSW |
5 |
24,584,809 (GRCm39) |
missense |
probably benign |
|
|
R6517:Nos3
|
UTSW |
5 |
24,588,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6888:Nos3
|
UTSW |
5 |
24,588,333 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R6972:Nos3
|
UTSW |
5 |
24,585,241 (GRCm39) |
missense |
probably benign |
|
|
R6973:Nos3
|
UTSW |
5 |
24,585,241 (GRCm39) |
missense |
probably benign |
|
|
R7432:Nos3
|
UTSW |
5 |
24,572,613 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7434:Nos3
|
UTSW |
5 |
24,587,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7507:Nos3
|
UTSW |
5 |
24,577,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Nos3
|
UTSW |
5 |
24,586,715 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R7652:Nos3
|
UTSW |
5 |
24,588,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8094:Nos3
|
UTSW |
5 |
24,572,218 (GRCm39) |
missense |
probably benign |
0.13 |
|
R8686:Nos3
|
UTSW |
5 |
24,573,841 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8794:Nos3
|
UTSW |
5 |
24,576,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9016:Nos3
|
UTSW |
5 |
24,588,639 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9192:Nos3
|
UTSW |
5 |
24,582,611 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9336:Nos3
|
UTSW |
5 |
24,584,761 (GRCm39) |
missense |
probably benign |
|
|
X0020:Nos3
|
UTSW |
5 |
24,575,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0061:Nos3
|
UTSW |
5 |
24,587,633 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Nos3
|
UTSW |
5 |
24,582,652 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Nos3
|
UTSW |
5 |
24,588,948 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACTCCAGGCTCCTGATGAG -3'
(R):5'- ACATCCTTGGACCTGCCTTG -3'
Sequencing Primer
(F):5'- TGATGAGCCCCCAGAACTCTTC -3'
(R):5'- TGACGCACACTTTCCCACG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation