Incidental Mutation 'R6888:Nos3'
ID |
537035 |
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 |
044982-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6888 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
24569808-24589472 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 24588333 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 1060
(V1060A)
|
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: V1060A
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000030834 Gene: ENSMUSG00000028978 AA Change: V1060A
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: V1060A
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000110742 Gene: ENSMUSG00000028978 AA Change: V1060A
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: 99.4%
- 20x: 98.1%
|
Validation Efficiency |
|
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 |
Actg1 |
T |
C |
11: 120,238,141 (GRCm39) |
Y190C |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,656,788 (GRCm39) |
I2902T |
probably damaging |
Het |
AI429214 |
G |
A |
8: 37,460,987 (GRCm39) |
G45D |
possibly damaging |
Het |
Ambra1 |
A |
G |
2: 91,599,372 (GRCm39) |
D164G |
probably damaging |
Het |
Ap3b1 |
A |
T |
13: 94,545,299 (GRCm39) |
Q184L |
probably benign |
Het |
Arhgef17 |
T |
C |
7: 100,580,027 (GRCm39) |
D307G |
possibly damaging |
Het |
AY761185 |
A |
T |
8: 21,434,571 (GRCm39) |
Y52* |
probably null |
Het |
Bfsp1 |
A |
G |
2: 143,668,639 (GRCm39) |
S647P |
probably benign |
Het |
C130073F10Rik |
A |
G |
4: 101,747,453 (GRCm39) |
V192A |
probably benign |
Het |
Cacna1g |
T |
A |
11: 94,350,033 (GRCm39) |
D604V |
probably benign |
Het |
Ccdc170 |
T |
C |
10: 4,496,854 (GRCm39) |
V458A |
possibly damaging |
Het |
Ccdc187 |
G |
A |
2: 26,179,746 (GRCm39) |
R238W |
probably damaging |
Het |
Cdh1 |
A |
G |
8: 107,384,946 (GRCm39) |
S380G |
probably benign |
Het |
Cdk5rap3 |
T |
C |
11: 96,807,018 (GRCm39) |
H4R |
probably benign |
Het |
Cftr |
G |
A |
6: 18,313,729 (GRCm39) |
|
probably null |
Het |
Cstpp1 |
A |
G |
2: 91,252,239 (GRCm39) |
Y41H |
probably damaging |
Het |
Dnajc16 |
A |
G |
4: 141,504,303 (GRCm39) |
V219A |
probably benign |
Het |
Drd3 |
A |
T |
16: 43,637,502 (GRCm39) |
I266F |
probably benign |
Het |
Dut |
A |
G |
2: 125,099,044 (GRCm39) |
D177G |
probably benign |
Het |
Esr1 |
A |
G |
10: 4,807,076 (GRCm39) |
I331V |
probably benign |
Het |
Gm11110 |
A |
G |
17: 57,409,143 (GRCm39) |
|
probably benign |
Het |
Grm7 |
G |
T |
6: 111,335,314 (GRCm39) |
G575V |
possibly damaging |
Het |
Heatr3 |
A |
G |
8: 88,897,512 (GRCm39) |
Y531C |
probably damaging |
Het |
Igfn1 |
A |
G |
1: 135,910,218 (GRCm39) |
V122A |
probably benign |
Het |
Igsf21 |
T |
C |
4: 139,762,054 (GRCm39) |
D208G |
probably benign |
Het |
Kntc1 |
T |
C |
5: 123,949,373 (GRCm39) |
Y1915H |
probably damaging |
Het |
Lamc1 |
A |
T |
1: 153,138,238 (GRCm39) |
D205E |
probably damaging |
Het |
Limch1 |
C |
T |
5: 67,179,269 (GRCm39) |
T713I |
probably benign |
Het |
Lrp1b |
A |
G |
2: 41,361,138 (GRCm39) |
I555T |
probably benign |
Het |
Lrp2 |
A |
T |
2: 69,354,485 (GRCm39) |
F448I |
probably damaging |
Het |
Marchf6 |
T |
C |
15: 31,459,379 (GRCm39) |
K896E |
probably benign |
Het |
Mroh4 |
T |
C |
15: 74,485,098 (GRCm39) |
Y469C |
possibly damaging |
Het |
Niban3 |
G |
T |
8: 72,056,383 (GRCm39) |
R361L |
probably benign |
Het |
Nr1h4 |
A |
G |
10: 89,292,404 (GRCm39) |
I406T |
probably damaging |
Het |
Odf2l |
T |
C |
3: 144,854,379 (GRCm39) |
|
probably null |
Het |
Or2y15 |
A |
T |
11: 49,351,087 (GRCm39) |
T194S |
probably damaging |
Het |
Or5d14 |
A |
G |
2: 87,880,608 (GRCm39) |
M120T |
probably damaging |
Het |
Pals2 |
T |
G |
6: 50,157,257 (GRCm39) |
|
probably null |
Het |
Pbx2 |
A |
G |
17: 34,813,081 (GRCm39) |
Y119C |
possibly damaging |
Het |
Pdcd6ip |
C |
A |
9: 113,500,905 (GRCm39) |
A526S |
probably benign |
Het |
Prx |
G |
A |
7: 27,219,059 (GRCm39) |
D1187N |
possibly damaging |
Het |
Ptpro |
G |
A |
6: 137,357,198 (GRCm39) |
V230I |
probably benign |
Het |
Rtn3 |
C |
T |
19: 7,434,614 (GRCm39) |
M440I |
probably benign |
Het |
Sar1b |
T |
C |
11: 51,679,019 (GRCm39) |
I96T |
probably damaging |
Het |
Sds |
T |
C |
5: 120,618,965 (GRCm39) |
|
probably null |
Het |
Secisbp2 |
A |
G |
13: 51,833,977 (GRCm39) |
T706A |
probably benign |
Het |
Sorcs3 |
A |
T |
19: 48,682,263 (GRCm39) |
M433L |
possibly damaging |
Het |
Sppl2a |
A |
G |
2: 126,746,912 (GRCm39) |
V472A |
probably damaging |
Het |
Tbc1d9 |
A |
G |
8: 83,998,217 (GRCm39) |
E1258G |
possibly damaging |
Het |
Tbxas1 |
C |
A |
6: 38,929,008 (GRCm39) |
|
probably benign |
Het |
Tg |
T |
C |
15: 66,568,095 (GRCm39) |
I1333T |
probably damaging |
Het |
Tmem108 |
C |
T |
9: 103,376,915 (GRCm39) |
G178D |
probably damaging |
Het |
Tmem174 |
A |
G |
13: 98,773,569 (GRCm39) |
L87P |
probably damaging |
Het |
Tmppe |
T |
A |
9: 114,233,769 (GRCm39) |
S23T |
probably damaging |
Het |
Ttn |
G |
A |
2: 76,591,447 (GRCm39) |
T21074I |
probably benign |
Het |
Tub |
A |
G |
7: 108,628,505 (GRCm39) |
M338V |
probably null |
Het |
Vmn1r160 |
A |
T |
7: 22,571,531 (GRCm39) |
R295* |
probably null |
Het |
Vps52 |
T |
C |
17: 34,182,180 (GRCm39) |
V518A |
probably benign |
Het |
Wdr59 |
A |
G |
8: 112,177,675 (GRCm39) |
V909A |
probably benign |
Het |
Wnk1 |
T |
C |
6: 119,925,742 (GRCm39) |
T1241A |
probably benign |
Het |
Zfp882 |
G |
A |
8: 72,668,130 (GRCm39) |
C319Y |
probably benign |
Het |
Znfx1 |
A |
T |
2: 166,880,860 (GRCm39) |
I308N |
possibly damaging |
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 |
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'- AGACAAGATAGTGGTTGCTCC -3'
(R):5'- TCTTGCACGTAGGTCTAGGGAC -3'
Sequencing Primer
(F):5'- GTTGCTCCAAGCCAAAAGTCTGG -3'
(R):5'- TTGCTGTGAGAACGCCCAG -3'
|
Posted On |
2018-10-18 |