Incidental Mutation 'R7507:Nos3'
ID |
581838 |
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 |
045580-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7507 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
24569808-24589472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24577642 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Threonine
at position 552
(M552T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030834
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030834]
[ENSMUST00000115090]
|
AlphaFold |
P70313 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030834
AA Change: M552T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030834 Gene: ENSMUSG00000028978 AA Change: M552T
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 damaging
Transcript: ENSMUST00000115090
AA Change: M552T
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000110742 Gene: ENSMUSG00000028978 AA Change: M552T
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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (43/43) |
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
A |
T |
6: 121,652,177 (GRCm39) |
T1359S |
probably benign |
Het |
Adam8 |
C |
T |
7: 139,567,091 (GRCm39) |
|
probably null |
Het |
Adnp2 |
A |
G |
18: 80,174,068 (GRCm39) |
S114P |
probably benign |
Het |
BC051019 |
T |
A |
7: 109,315,475 (GRCm39) |
D260V |
possibly damaging |
Het |
Btnl10 |
A |
G |
11: 58,811,384 (GRCm39) |
T236A |
probably benign |
Het |
Cacna1c |
A |
T |
6: 119,034,200 (GRCm39) |
L109Q |
|
Het |
Clint1 |
C |
A |
11: 45,799,776 (GRCm39) |
Q512K |
possibly damaging |
Het |
Dop1a |
A |
G |
9: 86,418,002 (GRCm39) |
N1957S |
probably benign |
Het |
Gosr1 |
A |
T |
11: 76,645,240 (GRCm39) |
N101K |
probably benign |
Het |
Gria1 |
A |
G |
11: 57,119,765 (GRCm39) |
T350A |
probably benign |
Het |
Hs3st5 |
T |
A |
10: 36,709,011 (GRCm39) |
V182D |
probably damaging |
Het |
Igkv4-80 |
G |
T |
6: 68,993,677 (GRCm39) |
S71R |
probably benign |
Het |
Kif2b |
A |
G |
11: 91,468,269 (GRCm39) |
F5L |
probably benign |
Het |
Med1 |
A |
G |
11: 98,048,852 (GRCm39) |
L648P |
probably damaging |
Het |
Mgat4a |
G |
A |
1: 37,491,608 (GRCm39) |
L375F |
probably damaging |
Het |
Mlph |
A |
T |
1: 90,855,429 (GRCm39) |
|
probably benign |
Het |
Nbeal1 |
T |
C |
1: 60,274,626 (GRCm39) |
S346P |
probably damaging |
Het |
Nhlrc2 |
G |
A |
19: 56,585,810 (GRCm39) |
V682I |
not run |
Het |
Or4e2 |
A |
G |
14: 52,687,930 (GRCm39) |
N20S |
probably benign |
Het |
Or5w19 |
T |
C |
2: 87,698,713 (GRCm39) |
I126T |
probably damaging |
Het |
Or6c209 |
T |
A |
10: 129,483,366 (GRCm39) |
I123N |
probably damaging |
Het |
Pcdha5 |
A |
T |
18: 37,093,909 (GRCm39) |
R139S |
probably benign |
Het |
Pik3r1 |
G |
A |
13: 101,845,490 (GRCm39) |
S147L |
probably benign |
Het |
Plppr4 |
T |
A |
3: 117,115,754 (GRCm39) |
H701L |
possibly damaging |
Het |
Pnpla1 |
T |
C |
17: 29,095,791 (GRCm39) |
Y71H |
probably damaging |
Het |
Ppp1r12c |
G |
A |
7: 4,486,970 (GRCm39) |
A521V |
probably benign |
Het |
Rasgrp3 |
C |
A |
17: 75,804,055 (GRCm39) |
D119E |
probably damaging |
Het |
Rnf216 |
A |
T |
5: 143,075,557 (GRCm39) |
D342E |
probably damaging |
Het |
Rnpc3 |
A |
T |
3: 113,410,410 (GRCm39) |
S294T |
probably benign |
Het |
Sepsecs |
A |
G |
5: 52,801,397 (GRCm39) |
F422L |
probably damaging |
Het |
Sgcz |
T |
A |
8: 38,420,200 (GRCm39) |
E17D |
probably benign |
Het |
Slc2a5 |
T |
C |
4: 150,210,107 (GRCm39) |
Y31H |
probably damaging |
Het |
Spag9 |
A |
G |
11: 93,958,906 (GRCm39) |
E310G |
probably benign |
Het |
Stat4 |
A |
G |
1: 52,117,733 (GRCm39) |
Y288C |
probably damaging |
Het |
Tet1 |
A |
G |
10: 62,668,671 (GRCm39) |
|
probably null |
Het |
Trim62 |
A |
G |
4: 128,790,664 (GRCm39) |
T154A |
probably benign |
Het |
Tubb4a |
T |
C |
17: 57,388,642 (GRCm39) |
D128G |
probably damaging |
Het |
Ube3d |
G |
A |
9: 86,304,939 (GRCm39) |
A301V |
possibly damaging |
Het |
Utp6 |
A |
G |
11: 79,833,012 (GRCm39) |
S444P |
possibly damaging |
Het |
Vasn |
T |
C |
16: 4,467,345 (GRCm39) |
C431R |
probably damaging |
Het |
Zfp260 |
T |
C |
7: 29,804,291 (GRCm39) |
S64P |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,808,840 (GRCm39) |
M1007K |
probably damaging |
Het |
Zfp606 |
C |
A |
7: 12,226,868 (GRCm39) |
Q330K |
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 |
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'- ACAAGTAAGGGTTCATTTCAAGTCC -3'
(R):5'- CACATCCCCATCAGGAAGTG -3'
Sequencing Primer
(F):5'- TTCAAGTCCAACATGGTGGC -3'
(R):5'- CCATCAGGAAGTGGGGCTACTTAG -3'
|
Posted On |
2019-10-17 |