Incidental Mutation 'R6401:Nos3'
ID |
516156 |
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 |
044548-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6401 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24569808-24589472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 24584809 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 738
(T738A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110742
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030834]
[ENSMUST00000059401]
[ENSMUST00000115090]
|
AlphaFold |
P70313 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030834
AA Change: T738A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030834 Gene: ENSMUSG00000028978 AA Change: T738A
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: ENSMUST00000059401
|
SMART Domains |
Protein: ENSMUSP00000051864 Gene: ENSMUSG00000038295
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
18 |
N/A |
INTRINSIC |
low complexity region
|
22 |
38 |
N/A |
INTRINSIC |
low complexity region
|
115 |
131 |
N/A |
INTRINSIC |
transmembrane domain
|
219 |
241 |
N/A |
INTRINSIC |
transmembrane domain
|
279 |
296 |
N/A |
INTRINSIC |
Pfam:APG9
|
321 |
681 |
1.2e-100 |
PFAM |
low complexity region
|
782 |
799 |
N/A |
INTRINSIC |
low complexity region
|
838 |
847 |
N/A |
INTRINSIC |
low complexity region
|
854 |
871 |
N/A |
INTRINSIC |
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115090
AA Change: T738A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110742 Gene: ENSMUSG00000028978 AA Change: T738A
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: ENSMUST00000138716
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146326
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156403
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
Validation Efficiency |
93% (41/44) |
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano3 |
T |
A |
2: 110,605,459 (GRCm39) |
N249I |
probably benign |
Het |
Ap3s1 |
A |
C |
18: 46,891,074 (GRCm39) |
I56L |
probably benign |
Het |
Ccn5 |
T |
C |
2: 163,670,946 (GRCm39) |
I151T |
probably benign |
Het |
Cngb1 |
A |
G |
8: 96,030,367 (GRCm39) |
|
probably benign |
Het |
Col2a1 |
T |
C |
15: 97,883,773 (GRCm39) |
T570A |
unknown |
Het |
Cyp3a16 |
T |
C |
5: 145,377,174 (GRCm39) |
E471G |
probably damaging |
Het |
D930020B18Rik |
A |
G |
10: 121,477,762 (GRCm39) |
N14D |
possibly damaging |
Het |
Ext1 |
T |
C |
15: 52,969,493 (GRCm39) |
E365G |
possibly damaging |
Het |
Fbn1 |
C |
A |
2: 125,188,370 (GRCm39) |
V1490F |
probably damaging |
Het |
Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
Gm5431 |
T |
A |
11: 48,779,536 (GRCm39) |
N740I |
probably benign |
Het |
Ifi209 |
T |
C |
1: 173,472,269 (GRCm39) |
M370T |
probably damaging |
Het |
Ighv2-4 |
G |
T |
12: 113,617,082 (GRCm39) |
P60Q |
probably damaging |
Het |
Kif19b |
A |
T |
5: 140,442,698 (GRCm39) |
T80S |
possibly damaging |
Het |
Ldb3 |
A |
T |
14: 34,299,291 (GRCm39) |
L111Q |
probably benign |
Het |
Mcmbp |
G |
T |
7: 128,308,783 (GRCm39) |
L413I |
possibly damaging |
Het |
Mib1 |
T |
A |
18: 10,795,802 (GRCm39) |
M721K |
probably benign |
Het |
Notch3 |
T |
A |
17: 32,377,597 (GRCm39) |
I160L |
probably benign |
Het |
Nrxn3 |
C |
A |
12: 89,221,770 (GRCm39) |
N516K |
possibly damaging |
Het |
Nt5c2 |
A |
G |
19: 46,878,250 (GRCm39) |
Y496H |
probably benign |
Het |
Or13f5 |
A |
C |
4: 52,826,242 (GRCm39) |
T282P |
probably damaging |
Het |
Or1n1 |
A |
T |
2: 36,750,177 (GRCm39) |
L61* |
probably null |
Het |
Or5b111 |
T |
C |
19: 13,290,878 (GRCm39) |
Y257C |
probably damaging |
Het |
Polm |
A |
T |
11: 5,779,491 (GRCm39) |
W436R |
probably damaging |
Het |
Prex2 |
T |
A |
1: 11,256,951 (GRCm39) |
I1221N |
probably benign |
Het |
Rfpl4b |
T |
C |
10: 38,696,941 (GRCm39) |
H220R |
possibly damaging |
Het |
Rgs12 |
T |
C |
5: 35,177,676 (GRCm39) |
F79L |
probably damaging |
Het |
Rxfp2 |
A |
G |
5: 149,966,595 (GRCm39) |
D111G |
probably benign |
Het |
Smg7 |
A |
G |
1: 152,715,887 (GRCm39) |
|
probably null |
Het |
Spata22 |
T |
C |
11: 73,224,180 (GRCm39) |
S34P |
probably damaging |
Het |
St7 |
T |
A |
6: 17,855,317 (GRCm39) |
|
probably null |
Het |
Stk31 |
A |
G |
6: 49,400,372 (GRCm39) |
E399G |
probably damaging |
Het |
Tcp10b |
C |
A |
17: 13,292,466 (GRCm39) |
N296K |
probably damaging |
Het |
Tonsl |
T |
C |
15: 76,517,866 (GRCm39) |
Y645C |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,800,206 (GRCm39) |
M334K |
probably benign |
Het |
Vcpkmt |
C |
A |
12: 69,629,619 (GRCm39) |
V48F |
probably damaging |
Het |
Vmn2r112 |
T |
A |
17: 22,822,532 (GRCm39) |
Y403* |
probably null |
Het |
Vwa7 |
G |
A |
17: 35,236,286 (GRCm39) |
|
probably null |
Het |
Wscd2 |
A |
T |
5: 113,726,206 (GRCm39) |
*572C |
probably null |
Het |
Xpo7 |
A |
G |
14: 70,919,787 (GRCm39) |
L676P |
probably damaging |
Het |
Zbtb32 |
A |
C |
7: 30,291,244 (GRCm39) |
L17W |
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 |
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 |
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 |
|
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'- TTGGAAGCTGGAAGGTTAAGCC -3'
(R):5'- CCACAGAGAGGATTGTAGCC -3'
Sequencing Primer
(F):5'- CTGGAAGGTTAAGCCCTTGAAACAC -3'
(R):5'- AGGATTGTAGCCTGGAACATCTTCC -3'
|
Posted On |
2018-05-04 |