Incidental Mutation 'R7553:Nos3'
| ID |
584538 |
| 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 |
045622-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7553 (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 24586715 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 986
(D986V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030834]
[ENSMUST00000059401]
[ENSMUST00000115090]
|
| AlphaFold |
P70313 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030834
AA Change: D986V
PolyPhen 2
Score 0.618 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: D986V
| 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 |
possibly damaging
Transcript: ENSMUST00000115090
AA Change: D986V
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: D986V
| 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: 99.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,648,545 (GRCm39) |
L649P |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,777,318 (GRCm39) |
Y371C |
probably damaging |
Het |
| Avp |
A |
G |
2: 130,423,098 (GRCm39) |
V71A |
probably damaging |
Het |
| Bhmt |
C |
T |
13: 93,756,589 (GRCm39) |
|
probably null |
Het |
| Capn15 |
T |
C |
17: 26,179,738 (GRCm39) |
E874G |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,773,231 (GRCm39) |
F591S |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,201,348 (GRCm39) |
Q292L |
probably benign |
Het |
| Cd96 |
T |
G |
16: 45,872,384 (GRCm39) |
T406P |
probably damaging |
Het |
| Csnk1e |
G |
A |
15: 79,310,566 (GRCm39) |
A153V |
probably damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,889 (GRCm39) |
V15I |
unknown |
Het |
| Dmbt1 |
A |
G |
7: 130,706,597 (GRCm39) |
N1372S |
unknown |
Het |
| Dntt |
A |
T |
19: 41,017,926 (GRCm39) |
R17W |
probably damaging |
Het |
| Erich3 |
G |
T |
3: 154,439,137 (GRCm39) |
A260S |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,437,881 (GRCm39) |
S669L |
unknown |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,053,925 (GRCm39) |
K375E |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,749,394 (GRCm39) |
G603S |
possibly damaging |
Het |
| Hexb |
C |
T |
13: 97,334,681 (GRCm39) |
R30Q |
probably benign |
Het |
| Homer3 |
A |
T |
8: 70,742,774 (GRCm39) |
T162S |
probably benign |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,151 (GRCm39) |
E15G |
probably benign |
Het |
| Manea |
A |
T |
4: 26,327,986 (GRCm39) |
F352I |
probably damaging |
Het |
| Mcf2l |
T |
A |
8: 13,047,268 (GRCm39) |
M210K |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,667,824 (GRCm39) |
L734P |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,155,571 (GRCm39) |
V894A |
possibly damaging |
Het |
| Myh4 |
T |
A |
11: 67,147,221 (GRCm39) |
M1622K |
probably damaging |
Het |
| Myrf |
A |
G |
19: 10,206,240 (GRCm39) |
F59L |
probably benign |
Het |
| Ndst3 |
G |
T |
3: 123,350,709 (GRCm39) |
|
probably null |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Nrp1 |
G |
A |
8: 129,158,468 (GRCm39) |
A252T |
probably damaging |
Het |
| Nup205 |
G |
T |
6: 35,178,934 (GRCm39) |
R668L |
probably damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,363 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or5af2 |
T |
A |
11: 58,707,886 (GRCm39) |
D17E |
probably benign |
Het |
| Or5p56 |
G |
A |
7: 107,589,682 (GRCm39) |
V37I |
probably benign |
Het |
| Pcdhga1 |
T |
A |
18: 37,882,735 (GRCm39) |
|
probably null |
Het |
| Pck1 |
A |
G |
2: 172,998,860 (GRCm39) |
I373V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,223,258 (GRCm39) |
N227S |
probably benign |
Het |
| Pianp |
T |
G |
6: 124,976,214 (GRCm39) |
S8A |
unknown |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,353,243 (GRCm39) |
N239K |
possibly damaging |
Het |
| Pls1 |
T |
A |
9: 95,669,140 (GRCm39) |
N27I |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,034,620 (GRCm39) |
*711Q |
probably null |
Het |
| Prkag3 |
A |
G |
1: 74,783,894 (GRCm39) |
F330L |
probably damaging |
Het |
| Prss56 |
A |
G |
1: 87,111,261 (GRCm39) |
D16G |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,769,794 (GRCm39) |
F255Y |
probably damaging |
Het |
| Rap1gap2 |
T |
C |
11: 74,326,548 (GRCm39) |
E173G |
probably damaging |
Het |
| Retreg3 |
C |
T |
11: 100,997,216 (GRCm39) |
R88H |
possibly damaging |
Het |
| Rhag |
G |
A |
17: 41,139,286 (GRCm39) |
G74R |
probably damaging |
Het |
| Rybp |
A |
G |
6: 100,209,220 (GRCm39) |
S201P |
possibly damaging |
Het |
| S100a10 |
G |
A |
3: 93,471,602 (GRCm39) |
C62Y |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,673 (GRCm39) |
S34C |
possibly damaging |
Het |
| Serpind1 |
A |
G |
16: 17,154,539 (GRCm39) |
D122G |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,254,076 (GRCm39) |
L242P |
probably damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,198,803 (GRCm39) |
I776F |
probably damaging |
Het |
| Slc9a1 |
A |
G |
4: 133,139,580 (GRCm39) |
E266G |
probably damaging |
Het |
| Stard9 |
A |
T |
2: 120,524,289 (GRCm39) |
|
probably null |
Het |
| Stpg2 |
A |
G |
3: 138,924,098 (GRCm39) |
Y167C |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,536,335 (GRCm39) |
E274G |
probably damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,564 (GRCm39) |
S477N |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,589,752 (GRCm39) |
L343P |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,680 (GRCm39) |
C246S |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,465,891 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
C |
G |
7: 41,916,205 (GRCm39) |
L273V |
not run |
Het |
| Vmn2r-ps158 |
T |
G |
7: 42,697,447 (GRCm39) |
C835G |
probably damaging |
Het |
| Zfp37 |
C |
A |
4: 62,110,236 (GRCm39) |
G317V |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,941,872 (GRCm39) |
K349R |
possibly damaging |
Het |
| Zyx |
A |
T |
6: 42,327,408 (GRCm39) |
E69V |
probably null |
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 |
|
|
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 |
|
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'- GGAGAGATCCACCTCACCATAG -3'
(R):5'- GCCGATATTGTGTTACCCCTGC -3'
Sequencing Primer
(F):5'- ACCATAGCTGTGCTGGCTTAC -3'
(R):5'- ATATTGTGTTACCCCTGCCCTCATG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation