Incidental Mutation 'R5095:Nos3'
| ID |
395808 |
| 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 |
042684-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5095 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24569808-24589472 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 24573916 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030834]
[ENSMUST00000115090]
|
| AlphaFold |
P70313 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030834
|
| SMART Domains |
Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (59/60) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021A07Rik |
G |
C |
10: 21,301,492 (GRCm39) |
|
noncoding transcript |
Het |
| Adgrv1 |
C |
T |
13: 81,243,606 (GRCm39) |
V6265I |
probably benign |
Het |
| Agbl1 |
G |
A |
7: 76,369,881 (GRCm39) |
G660D |
probably damaging |
Het |
| Arap2 |
A |
G |
5: 62,811,392 (GRCm39) |
Y1140H |
probably damaging |
Het |
| Atp6v1c1 |
T |
C |
15: 38,679,657 (GRCm39) |
|
probably null |
Het |
| C1rb |
A |
T |
6: 124,557,272 (GRCm39) |
R470W |
possibly damaging |
Het |
| Caskin2 |
T |
C |
11: 115,691,564 (GRCm39) |
T1074A |
probably benign |
Het |
| Cdh19 |
T |
A |
1: 110,882,391 (GRCm39) |
T34S |
probably benign |
Het |
| Csnk1a1 |
T |
A |
18: 61,708,547 (GRCm39) |
Y175N |
probably damaging |
Het |
| F2 |
CAGAAAG |
CAG |
2: 91,465,302 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
T |
A |
11: 49,517,986 (GRCm39) |
V342D |
possibly damaging |
Het |
| Frmd5 |
A |
T |
2: 121,379,402 (GRCm39) |
C394S |
possibly damaging |
Het |
| Gm5414 |
T |
G |
15: 101,532,473 (GRCm39) |
N550T |
probably benign |
Het |
| Hcn3 |
C |
A |
3: 89,057,230 (GRCm39) |
R456L |
probably damaging |
Het |
| Htt |
T |
C |
5: 34,981,739 (GRCm39) |
V893A |
possibly damaging |
Het |
| Ift46 |
A |
G |
9: 44,698,146 (GRCm39) |
D203G |
probably damaging |
Het |
| Itga10 |
G |
T |
3: 96,555,480 (GRCm39) |
V145L |
probably benign |
Het |
| Kcnh6 |
A |
G |
11: 105,908,080 (GRCm39) |
D232G |
possibly damaging |
Het |
| Mbtd1 |
T |
C |
11: 93,820,497 (GRCm39) |
S431P |
probably damaging |
Het |
| Mmp27 |
T |
A |
9: 7,572,159 (GRCm39) |
W120R |
probably damaging |
Het |
| Mmp27 |
A |
T |
9: 7,579,001 (GRCm39) |
D418V |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,059,302 (GRCm39) |
D510G |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,091,671 (GRCm39) |
K1179* |
probably null |
Het |
| Neto1 |
T |
C |
18: 86,416,406 (GRCm39) |
S38P |
probably benign |
Het |
| Nuggc |
C |
T |
14: 65,872,539 (GRCm39) |
R512* |
probably null |
Het |
| Oas1e |
T |
A |
5: 120,932,329 (GRCm39) |
K105* |
probably null |
Het |
| Omd |
T |
A |
13: 49,743,174 (GRCm39) |
S75T |
possibly damaging |
Het |
| Or10a3m |
T |
C |
7: 108,313,019 (GRCm39) |
F141S |
probably damaging |
Het |
| Or2n1c |
A |
C |
17: 38,519,208 (GRCm39) |
E24A |
possibly damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,754,487 (GRCm39) |
N190S |
probably benign |
Het |
| Picalm |
T |
C |
7: 89,819,841 (GRCm39) |
F85L |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,110,048 (GRCm39) |
V360A |
possibly damaging |
Het |
| Prex1 |
T |
C |
2: 166,423,841 (GRCm39) |
D1017G |
probably damaging |
Het |
| Prss56 |
G |
C |
1: 87,115,833 (GRCm39) |
R569P |
probably damaging |
Het |
| Rab6b |
G |
A |
9: 103,017,583 (GRCm39) |
G25R |
probably damaging |
Het |
| Rdh10 |
A |
G |
1: 16,201,609 (GRCm39) |
T332A |
probably benign |
Het |
| Rheb |
A |
T |
5: 25,012,639 (GRCm39) |
M115K |
probably benign |
Het |
| Rnf149 |
A |
T |
1: 39,594,737 (GRCm39) |
D321E |
probably benign |
Het |
| Rps28 |
C |
T |
17: 34,042,177 (GRCm39) |
|
probably null |
Het |
| Slc6a20b |
A |
G |
9: 123,424,119 (GRCm39) |
V616A |
probably benign |
Het |
| Smarcc2 |
A |
G |
10: 128,305,169 (GRCm39) |
K300R |
probably damaging |
Het |
| Sparcl1 |
C |
T |
5: 104,233,629 (GRCm39) |
M573I |
probably damaging |
Het |
| Spata31h1 |
G |
T |
10: 82,119,501 (GRCm39) |
A4503E |
probably damaging |
Het |
| Srp68 |
C |
T |
11: 116,139,573 (GRCm39) |
V459M |
probably damaging |
Het |
| Stxbp4 |
C |
T |
11: 90,439,801 (GRCm39) |
V346I |
probably benign |
Het |
| Syne2 |
A |
G |
12: 75,999,600 (GRCm39) |
D2331G |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,564,536 (GRCm39) |
Y28534N |
probably damaging |
Het |
| Usp44 |
A |
T |
10: 93,682,707 (GRCm39) |
I386F |
possibly damaging |
Het |
| Vmn2r15 |
T |
C |
5: 109,436,317 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
A |
7: 85,387,061 (GRCm39) |
L834F |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,923,348 (GRCm39) |
I3741K |
probably damaging |
Het |
| Zdbf2 |
A |
G |
1: 63,348,232 (GRCm39) |
T2204A |
possibly damaging |
Het |
| Zfp607b |
T |
A |
7: 27,393,061 (GRCm39) |
|
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 |
|
|
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'- TGAAAGCACTGGTCACATGG -3'
(R):5'- AGCCATCCTGCTGCCTATAG -3'
Sequencing Primer
(F):5'- TCACATGGACAGTGGGTAGCTC -3'
(R):5'- TGCTGCCTATAGCCCGCATAG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation