Incidental Mutation 'R5367:Nos3'
| ID |
429402 |
| 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 |
042945-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5367 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24569808-24589472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24576942 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 490
(T490A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030834]
[ENSMUST00000115090]
|
| AlphaFold |
P70313 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030834
AA Change: T490A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: T490A
| 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 benign
Transcript: ENSMUST00000115090
AA Change: T490A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: T490A
| 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
|
| Meta Mutation Damage Score |
0.0820 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
| Validation Efficiency |
97% (70/72) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
T |
C |
3: 59,947,057 (GRCm39) |
Y252H |
probably damaging |
Het |
| Aadat |
T |
C |
8: 60,979,630 (GRCm39) |
I164T |
probably damaging |
Het |
| Adam11 |
A |
G |
11: 102,664,479 (GRCm39) |
H389R |
probably benign |
Het |
| Alkbh5 |
G |
T |
11: 60,429,529 (GRCm39) |
R94L |
possibly damaging |
Het |
| Ampd3 |
A |
G |
7: 110,407,078 (GRCm39) |
K644R |
possibly damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,722,461 (GRCm39) |
L328H |
probably damaging |
Het |
| Ankrd55 |
G |
T |
13: 112,455,036 (GRCm39) |
V45F |
probably damaging |
Het |
| Apol7c |
C |
A |
15: 77,410,347 (GRCm39) |
V200F |
probably damaging |
Het |
| Arap1 |
G |
A |
7: 101,058,337 (GRCm39) |
V721M |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,227,156 (GRCm39) |
D400G |
probably damaging |
Het |
| Bmp4 |
G |
T |
14: 46,621,950 (GRCm39) |
T198K |
possibly damaging |
Het |
| Cblb |
T |
A |
16: 52,025,016 (GRCm39) |
F970L |
probably damaging |
Het |
| Celf5 |
A |
G |
10: 81,303,098 (GRCm39) |
S148P |
probably damaging |
Het |
| Ckap5 |
T |
A |
2: 91,445,486 (GRCm39) |
C1708S |
possibly damaging |
Het |
| Clec2l |
T |
C |
6: 38,654,459 (GRCm39) |
F147L |
possibly damaging |
Het |
| Cnksr1 |
T |
A |
4: 133,957,525 (GRCm39) |
I465F |
possibly damaging |
Het |
| Coq10b |
A |
G |
1: 55,092,143 (GRCm39) |
D37G |
probably benign |
Het |
| Cpq |
T |
G |
15: 33,213,250 (GRCm39) |
Y90D |
possibly damaging |
Het |
| Depdc1a |
G |
A |
3: 159,229,591 (GRCm39) |
|
probably null |
Het |
| Eif2ak4 |
T |
A |
2: 118,266,639 (GRCm39) |
|
probably null |
Het |
| Eif3e |
C |
T |
15: 43,115,700 (GRCm39) |
M355I |
probably damaging |
Het |
| Eif4e1b |
G |
A |
13: 54,934,757 (GRCm39) |
V181M |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,680 (GRCm39) |
E113G |
probably damaging |
Het |
| Fads2 |
A |
G |
19: 10,041,649 (GRCm39) |
L438P |
probably damaging |
Het |
| Fbl |
T |
A |
7: 27,874,475 (GRCm39) |
V67E |
probably damaging |
Het |
| Gde1 |
A |
G |
7: 118,304,629 (GRCm39) |
L82P |
probably damaging |
Het |
| Gm10226 |
T |
C |
17: 21,910,884 (GRCm39) |
S40P |
possibly damaging |
Het |
| Gm10717 |
T |
G |
9: 3,026,317 (GRCm39) |
F205C |
probably damaging |
Het |
| Gm1988 |
T |
A |
7: 38,823,204 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6728 |
T |
C |
6: 136,463,502 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
C |
T |
2: 64,747,653 (GRCm39) |
V369I |
probably benign |
Het |
| Jag1 |
T |
A |
2: 136,927,014 (GRCm39) |
Q915L |
possibly damaging |
Het |
| Kdm5d |
G |
A |
Y: 941,645 (GRCm39) |
G1282D |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,384,875 (GRCm39) |
L407Q |
probably damaging |
Het |
| Mlf1 |
A |
T |
3: 67,301,296 (GRCm39) |
H118L |
probably damaging |
Het |
| Mmp10 |
G |
T |
9: 7,505,603 (GRCm39) |
C289F |
probably damaging |
Het |
| Mroh2a |
A |
T |
1: 88,182,687 (GRCm39) |
N1205I |
possibly damaging |
Het |
| Myo9a |
T |
A |
9: 59,807,732 (GRCm39) |
S2029T |
probably damaging |
Het |
| Nap1l4 |
A |
C |
7: 143,088,035 (GRCm39) |
S174R |
probably damaging |
Het |
| Or12d2 |
T |
A |
17: 37,625,147 (GRCm39) |
I43F |
probably damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,235 (GRCm39) |
Q159L |
possibly damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,800 (GRCm39) |
V80A |
possibly damaging |
Het |
| Or5b106 |
G |
A |
19: 13,123,865 (GRCm39) |
L53F |
probably damaging |
Het |
| Or5g23 |
A |
T |
2: 85,438,718 (GRCm39) |
C179S |
probably damaging |
Het |
| Pdlim7 |
G |
C |
13: 55,653,975 (GRCm39) |
T214S |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,197,802 (GRCm39) |
E1578G |
probably damaging |
Het |
| Ptcd1 |
T |
A |
5: 145,084,715 (GRCm39) |
|
probably benign |
Het |
| Sart3 |
C |
T |
5: 113,897,277 (GRCm39) |
|
probably null |
Het |
| Scara5 |
CG |
C |
14: 65,997,111 (GRCm39) |
|
probably null |
Het |
| Scrn2 |
A |
G |
11: 96,923,953 (GRCm39) |
D279G |
possibly damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,635,914 (GRCm39) |
D94G |
probably damaging |
Het |
| Slc12a4 |
A |
T |
8: 106,678,266 (GRCm39) |
V309E |
probably damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,623,637 (GRCm39) |
E12G |
probably damaging |
Het |
| Smarcal1 |
T |
C |
1: 72,635,135 (GRCm39) |
|
probably null |
Het |
| Smr3a |
T |
C |
5: 88,155,897 (GRCm39) |
|
probably benign |
Het |
| Stox2 |
A |
G |
8: 47,656,260 (GRCm39) |
I72T |
probably damaging |
Het |
| Tmem234 |
G |
T |
4: 129,494,500 (GRCm39) |
|
probably benign |
Het |
| Tmem35b |
A |
G |
4: 127,018,266 (GRCm39) |
Q20R |
possibly damaging |
Het |
| Tom1l2 |
G |
A |
11: 60,132,634 (GRCm39) |
H430Y |
probably benign |
Het |
| Tpo |
T |
C |
12: 30,153,289 (GRCm39) |
Y355C |
probably damaging |
Het |
| Tulp2 |
A |
G |
7: 45,166,075 (GRCm39) |
N122S |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,236,111 (GRCm39) |
L1194H |
probably damaging |
Het |
| Xbp1 |
T |
C |
11: 5,471,910 (GRCm39) |
V12A |
probably benign |
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 |
|
R1830:Nos3
|
UTSW |
5 |
24,575,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- AACTCCTGTCTTCCATCAAGAG -3'
(R):5'- AGAGATCTTCACTGCACTGC -3'
Sequencing Primer
(F):5'- AGAGATGGTCAACTATTTCCTGTCC -3'
(R):5'- TGCACTGCAGGCAAGGG -3'
|
| Posted On |
2016-09-06 |
Incidental Mutation