Incidental Mutation 'R6973:Nos3'
ID |
543706 |
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 |
045083-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6973 (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 T
at 24585241 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 798
(I798L)
|
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: I798L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030834 Gene: ENSMUSG00000028978 AA Change: I798L
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: I798L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000110742 Gene: ENSMUSG00000028978 AA Change: I798L
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
Validation Efficiency |
95% (37/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl3 |
T |
C |
4: 144,182,760 (GRCm39) |
Y236C |
probably benign |
Het |
Adamts12 |
T |
A |
15: 11,331,866 (GRCm39) |
C1461* |
probably null |
Het |
Akap9 |
A |
G |
5: 4,096,699 (GRCm39) |
N2525D |
possibly damaging |
Het |
Atp6v1c1 |
A |
G |
15: 38,690,794 (GRCm39) |
N315S |
probably damaging |
Het |
B3gnt7 |
G |
A |
1: 86,233,109 (GRCm39) |
M1I |
probably null |
Het |
C2cd4d |
G |
T |
3: 94,271,130 (GRCm39) |
R132L |
probably damaging |
Het |
Cd244a |
A |
G |
1: 171,401,775 (GRCm39) |
Y167C |
probably damaging |
Het |
Chd4 |
A |
G |
6: 125,099,825 (GRCm39) |
N1666D |
possibly damaging |
Het |
Cubn |
A |
G |
2: 13,386,648 (GRCm39) |
I1539T |
possibly damaging |
Het |
Dcdc2a |
A |
T |
13: 25,304,372 (GRCm39) |
|
probably benign |
Het |
Dgka |
C |
T |
10: 128,565,463 (GRCm39) |
|
probably null |
Het |
Ephb4 |
T |
G |
5: 137,368,066 (GRCm39) |
V737G |
probably damaging |
Het |
Etv2 |
T |
C |
7: 30,334,167 (GRCm39) |
N189D |
probably benign |
Het |
Exoc4 |
G |
T |
6: 33,556,965 (GRCm39) |
C490F |
probably damaging |
Het |
Gatad1 |
T |
C |
5: 3,693,540 (GRCm39) |
R210G |
probably benign |
Het |
Gpbp1l1 |
A |
G |
4: 116,438,479 (GRCm39) |
M192V |
possibly damaging |
Het |
Ireb2 |
A |
G |
9: 54,789,671 (GRCm39) |
K115R |
probably benign |
Het |
Mybpc1 |
T |
C |
10: 88,396,223 (GRCm39) |
E208G |
possibly damaging |
Het |
Nfic |
C |
A |
10: 81,256,191 (GRCm39) |
A158S |
probably benign |
Het |
Ntrk1 |
A |
T |
3: 87,691,288 (GRCm39) |
L292Q |
probably damaging |
Het |
Or52h7 |
G |
A |
7: 104,214,183 (GRCm39) |
V252I |
probably benign |
Het |
Or8u3-ps |
C |
T |
2: 85,953,198 (GRCm39) |
T310I |
probably benign |
Het |
Pcdhb2 |
G |
C |
18: 37,429,416 (GRCm39) |
R463P |
probably benign |
Het |
Pcdhgb6 |
A |
T |
18: 37,875,526 (GRCm39) |
D78V |
possibly damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Prelid3b |
C |
A |
2: 174,311,155 (GRCm39) |
W59L |
probably benign |
Het |
Prex2 |
T |
G |
1: 11,182,967 (GRCm39) |
S405R |
probably damaging |
Het |
Rp1 |
G |
A |
1: 4,422,217 (GRCm39) |
Q248* |
probably null |
Het |
Rspo4 |
T |
A |
2: 151,709,735 (GRCm39) |
C47S |
probably damaging |
Het |
Ryr3 |
C |
A |
2: 112,596,656 (GRCm39) |
M2499I |
probably damaging |
Het |
Smarca5 |
A |
G |
8: 81,431,380 (GRCm39) |
Y946H |
probably damaging |
Het |
Spata31d1e |
A |
G |
13: 59,890,521 (GRCm39) |
I433T |
probably benign |
Het |
Tcn2 |
T |
C |
11: 3,867,649 (GRCm39) |
*431W |
probably null |
Het |
Tert |
A |
G |
13: 73,776,107 (GRCm39) |
E286G |
probably benign |
Het |
Tnni3 |
A |
G |
7: 4,521,416 (GRCm39) |
I196T |
possibly damaging |
Het |
Unc79 |
T |
C |
12: 102,964,699 (GRCm39) |
I49T |
possibly damaging |
Het |
Zfp687 |
A |
G |
3: 94,916,688 (GRCm39) |
S813P |
possibly damaging |
Het |
Znfx1 |
T |
A |
2: 166,898,681 (GRCm39) |
H81L |
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 |
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 |
|
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'- TAAGGAACATGGCTCCTGGC -3'
(R):5'- GTGGCTAAAGTGGCAGCTAG -3'
Sequencing Primer
(F):5'- ATGGCTCCTGGCTCCCC -3'
(R):5'- AGCAGCCCTGTTAGTGCTGAG -3'
|
Posted On |
2019-05-13 |