Incidental Mutation 'R8686:Nos3'
| ID |
662031 |
| 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 |
068541-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8686 (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 24573841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 202
(T202A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030834
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030834]
[ENSMUST00000115090]
|
| AlphaFold |
P70313 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030834
AA Change: T202A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: T202A
| 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: T202A
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: T202A
| 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: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (58/58) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam25 |
A |
G |
8: 41,208,521 (GRCm39) |
T596A |
probably benign |
Het |
| Adamts6 |
A |
G |
13: 104,450,207 (GRCm39) |
I303V |
probably damaging |
Het |
| Alpl |
A |
T |
4: 137,471,112 (GRCm39) |
H341Q |
probably damaging |
Het |
| Cachd1 |
G |
A |
4: 100,845,325 (GRCm39) |
R939H |
probably damaging |
Het |
| Cd22 |
G |
A |
7: 30,569,494 (GRCm39) |
R541C |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,391,801 (GRCm39) |
M660K |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,231,888 (GRCm39) |
S1067T |
possibly damaging |
Het |
| Col5a2 |
C |
T |
1: 45,461,147 (GRCm39) |
G250D |
probably damaging |
Het |
| Cylc2 |
C |
T |
4: 51,229,651 (GRCm39) |
T331M |
unknown |
Het |
| Dgka |
A |
G |
10: 128,568,962 (GRCm39) |
M201T |
probably benign |
Het |
| Dnajc13 |
T |
C |
9: 104,048,004 (GRCm39) |
I1804V |
probably benign |
Het |
| Dym |
T |
A |
18: 75,419,754 (GRCm39) |
Y642N |
probably damaging |
Het |
| Efr3b |
A |
T |
12: 4,050,886 (GRCm39) |
D26E |
probably damaging |
Het |
| Emilin1 |
A |
T |
5: 31,075,040 (GRCm39) |
K427M |
possibly damaging |
Het |
| Fam187b |
T |
C |
7: 30,676,659 (GRCm39) |
L56S |
probably benign |
Het |
| Fbh1 |
C |
T |
2: 11,760,469 (GRCm39) |
V694I |
probably benign |
Het |
| Fgd2 |
C |
T |
17: 29,597,997 (GRCm39) |
T644I |
probably benign |
Het |
| G6pc1 |
T |
G |
11: 101,265,533 (GRCm39) |
|
probably null |
Het |
| Gli2 |
A |
G |
1: 118,764,417 (GRCm39) |
S1245P |
probably benign |
Het |
| Gpr137b |
T |
C |
13: 13,533,991 (GRCm39) |
Y355C |
|
Het |
| Ighv1-84 |
T |
C |
12: 115,944,524 (GRCm39) |
D50G |
probably benign |
Het |
| Impdh1 |
C |
A |
6: 29,216,214 (GRCm39) |
|
probably benign |
Het |
| Inhca |
C |
T |
9: 103,136,627 (GRCm39) |
A525T |
probably benign |
Het |
| Irf4 |
A |
T |
13: 30,945,433 (GRCm39) |
D393V |
possibly damaging |
Het |
| Kalrn |
A |
G |
16: 34,181,305 (GRCm39) |
L111P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,802,223 (GRCm39) |
V58A |
possibly damaging |
Het |
| Lrif1 |
C |
T |
3: 106,640,097 (GRCm39) |
T394I |
probably damaging |
Het |
| Map4k1 |
A |
G |
7: 28,693,498 (GRCm39) |
T434A |
probably benign |
Het |
| Mcur1 |
G |
A |
13: 43,695,193 (GRCm39) |
T327M |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,786,966 (GRCm39) |
S716I |
probably benign |
Het |
| Nol10 |
T |
A |
12: 17,419,772 (GRCm39) |
|
probably benign |
Het |
| Odad1 |
A |
G |
7: 45,597,116 (GRCm39) |
T456A |
probably benign |
Het |
| Or14j7 |
T |
C |
17: 38,235,168 (GRCm39) |
V237A |
probably benign |
Het |
| Or2d4 |
A |
C |
7: 106,543,905 (GRCm39) |
M101R |
probably benign |
Het |
| Parp12 |
A |
T |
6: 39,094,856 (GRCm39) |
S80T |
probably benign |
Het |
| Pde1a |
C |
T |
2: 79,758,086 (GRCm39) |
V50I |
probably benign |
Het |
| Pfkl |
A |
T |
10: 77,833,356 (GRCm39) |
|
probably null |
Het |
| Phkg1 |
A |
T |
5: 129,895,056 (GRCm39) |
Y207N |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,535,728 (GRCm39) |
T640A |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,147,827 (GRCm39) |
H411N |
probably damaging |
Het |
| Pla2g4e |
A |
G |
2: 120,075,172 (GRCm39) |
S73P |
probably damaging |
Het |
| Polr2b |
T |
C |
5: 77,483,510 (GRCm39) |
V662A |
probably damaging |
Het |
| Prss43 |
C |
T |
9: 110,658,494 (GRCm39) |
R265C |
possibly damaging |
Het |
| Rap1b |
A |
T |
10: 117,658,746 (GRCm39) |
V29D |
probably damaging |
Het |
| Rraga |
A |
G |
4: 86,495,048 (GRCm39) |
E298G |
probably damaging |
Het |
| Rrp8 |
A |
T |
7: 105,382,781 (GRCm39) |
I418N |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,005,030 (GRCm39) |
V420A |
probably benign |
Het |
| Snx14 |
T |
A |
9: 88,297,746 (GRCm39) |
N174I |
probably damaging |
Het |
| Speer4e1 |
T |
C |
5: 14,984,129 (GRCm39) |
N229S |
probably benign |
Het |
| Spopfm2 |
T |
C |
3: 94,083,427 (GRCm39) |
D128G |
probably benign |
Het |
| Teddm3 |
A |
G |
16: 20,971,685 (GRCm39) |
*295Q |
probably null |
Het |
| Tfap2c |
A |
G |
2: 172,393,926 (GRCm39) |
D245G |
possibly damaging |
Het |
| Tfap2d |
A |
G |
1: 19,178,508 (GRCm39) |
N191S |
probably benign |
Het |
| Tmt1b |
A |
T |
10: 128,796,476 (GRCm39) |
M111K |
possibly damaging |
Het |
| Unc80 |
A |
G |
1: 66,651,427 (GRCm39) |
R1591G |
possibly damaging |
Het |
| Vmn1r116 |
T |
C |
7: 20,606,616 (GRCm39) |
W146R |
probably damaging |
Het |
| Vps13b |
C |
G |
15: 35,925,535 (GRCm39) |
S3823R |
probably damaging |
Het |
| Wiz |
T |
A |
17: 32,586,821 (GRCm39) |
D163V |
probably damaging |
Het |
| Xylt1 |
G |
C |
7: 116,980,594 (GRCm39) |
A61P |
unknown |
Het |
| Zfp521 |
A |
C |
18: 13,978,701 (GRCm39) |
F571V |
probably damaging |
Het |
| Zfp664 |
T |
A |
5: 124,963,133 (GRCm39) |
C176S |
possibly damaging |
Het |
| Zfyve26 |
T |
C |
12: 79,334,227 (GRCm39) |
N264D |
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 |
|
|
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 |
|
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'- TGAAAGCACTGGTCACATGGAC -3'
(R):5'- AGCCATCCTGCTGCCTATAG -3'
Sequencing Primer
(F):5'- TCACATGGACAGTGGGTAGCTC -3'
(R):5'- CTGTTCCAGATCCGGAAGTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation