Incidental Mutation 'R5102:Nos3'
| ID |
392411 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nos3
|
| Ensembl Gene |
ENSMUSG00000028978 |
| Gene Name |
nitric oxide synthase 3, endothelial cell |
| Synonyms |
eNOS, 2310065A03Rik, ecNOS, Nos-3 |
| MMRRC Submission |
042690-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5102 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
24364810-24384474 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 24371627 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 418
(D418G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030834]
[ENSMUST00000115090]
|
| AlphaFold |
P70313 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030834
AA Change: D418G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: D418G
| 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: D418G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: D418G
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.3%
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810006K23Rik |
A |
G |
5: 124,338,891 (GRCm38) |
N83D |
probably damaging |
Het |
| Aox4 |
C |
T |
1: 58,240,778 (GRCm38) |
R518C |
probably damaging |
Het |
| Apbb2 |
A |
T |
5: 66,312,249 (GRCm38) |
|
probably null |
Het |
| Arhgap45 |
C |
T |
10: 80,021,428 (GRCm38) |
P254S |
probably benign |
Het |
| Arl4c |
T |
C |
1: 88,701,600 (GRCm38) |
D22G |
probably damaging |
Het |
| Asxl1 |
A |
G |
2: 153,400,955 (GRCm38) |
T1142A |
probably benign |
Het |
| BC035044 |
T |
C |
6: 128,884,986 (GRCm38) |
|
probably benign |
Het |
| Bmp4 |
T |
C |
14: 46,384,001 (GRCm38) |
N362S |
probably damaging |
Het |
| Cbll1 |
G |
T |
12: 31,487,913 (GRCm38) |
T280N |
probably damaging |
Het |
| Cdh10 |
A |
T |
15: 18,986,885 (GRCm38) |
T401S |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,206,793 (GRCm38) |
M1148L |
probably benign |
Het |
| Crybg1 |
T |
C |
10: 43,997,836 (GRCm38) |
D1092G |
probably damaging |
Het |
| Cyth2 |
A |
G |
7: 45,810,702 (GRCm38) |
S173P |
probably damaging |
Het |
| D3Ertd254e |
G |
A |
3: 36,162,665 (GRCm38) |
C55Y |
possibly damaging |
Het |
| D6Ertd527e |
A |
T |
6: 87,111,811 (GRCm38) |
I319F |
unknown |
Het |
| Dchs1 |
A |
T |
7: 105,772,177 (GRCm38) |
H345Q |
probably benign |
Het |
| Ddx50 |
A |
T |
10: 62,640,861 (GRCm38) |
V211E |
probably damaging |
Het |
| Dlx6 |
AGG |
AG |
6: 6,865,180 (GRCm38) |
|
probably null |
Het |
| Dnajb5 |
G |
A |
4: 42,956,639 (GRCm38) |
D109N |
possibly damaging |
Het |
| Dner |
A |
T |
1: 84,405,970 (GRCm38) |
N564K |
probably damaging |
Het |
| Fam234b |
T |
C |
6: 135,209,284 (GRCm38) |
S97P |
probably benign |
Het |
| Fam53b |
G |
A |
7: 132,715,955 (GRCm38) |
R60* |
probably null |
Het |
| Fmo3 |
T |
G |
1: 162,963,977 (GRCm38) |
K244Q |
probably benign |
Het |
| Gm12800 |
T |
C |
4: 101,909,239 (GRCm38) |
F40S |
probably damaging |
Het |
| Golim4 |
A |
G |
3: 75,903,272 (GRCm38) |
I192T |
possibly damaging |
Het |
| Gpr1 |
A |
G |
1: 63,183,167 (GRCm38) |
V303A |
probably damaging |
Het |
| Gprin1 |
T |
C |
13: 54,739,763 (GRCm38) |
M233V |
probably benign |
Het |
| Gtf2f1 |
A |
T |
17: 57,003,626 (GRCm38) |
V443D |
probably damaging |
Het |
| H2afy |
C |
G |
13: 56,096,123 (GRCm38) |
|
probably null |
Het |
| Hmgcs2 |
T |
C |
3: 98,280,470 (GRCm38) |
|
probably benign |
Het |
| Ide |
T |
A |
19: 37,314,984 (GRCm38) |
I271L |
unknown |
Het |
| Kat8 |
G |
A |
7: 127,924,816 (GRCm38) |
E343K |
probably damaging |
Het |
| Kif14 |
A |
G |
1: 136,516,403 (GRCm38) |
I1378V |
probably benign |
Het |
| Lhx3 |
TCCTACGGGCCGGCCC |
TCC |
2: 26,201,423 (GRCm38) |
|
probably null |
Het |
| Lhx6 |
T |
C |
2: 36,094,210 (GRCm38) |
|
probably null |
Het |
| Lrp2 |
C |
T |
2: 69,489,158 (GRCm38) |
G2007D |
probably damaging |
Het |
| Lrp5 |
T |
C |
19: 3,659,304 (GRCm38) |
K142R |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,650,038 (GRCm38) |
R286Q |
probably benign |
Het |
| Nacad |
T |
A |
11: 6,598,528 (GRCm38) |
D1402V |
probably damaging |
Het |
| Ndfip2 |
T |
C |
14: 105,298,105 (GRCm38) |
I275T |
possibly damaging |
Het |
| Neb |
A |
C |
2: 52,226,570 (GRCm38) |
V4131G |
possibly damaging |
Het |
| Nfe2l1 |
G |
A |
11: 96,822,108 (GRCm38) |
A83V |
probably damaging |
Het |
| Olfr1126 |
A |
T |
2: 87,457,794 (GRCm38) |
M210L |
probably benign |
Het |
| Olfr353 |
T |
A |
2: 36,890,044 (GRCm38) |
K268M |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,565,154 (GRCm38) |
T764A |
probably damaging |
Het |
| Plppr3 |
G |
T |
10: 79,865,386 (GRCm38) |
P541T |
possibly damaging |
Het |
| Polr2a |
A |
G |
11: 69,746,945 (GRCm38) |
I191T |
possibly damaging |
Het |
| Rab11fip1 |
T |
C |
8: 27,156,374 (GRCm38) |
K225E |
probably damaging |
Het |
| Rara |
A |
T |
11: 98,966,359 (GRCm38) |
Q64L |
possibly damaging |
Het |
| Rtkn |
G |
A |
6: 83,149,773 (GRCm38) |
V305M |
probably damaging |
Het |
| Sh2b1 |
A |
C |
7: 126,471,236 (GRCm38) |
F399V |
probably benign |
Het |
| Slc7a4 |
T |
C |
16: 17,575,618 (GRCm38) |
T106A |
probably damaging |
Het |
| Srcap |
G |
A |
7: 127,530,623 (GRCm38) |
G539D |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 31,148,017 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Nos3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00903:Nos3
|
APN |
5 |
24,369,862 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02059:Nos3
|
APN |
5 |
24,368,998 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02354:Nos3
|
APN |
5 |
24,367,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02361:Nos3
|
APN |
5 |
24,367,623 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02936:Nos3
|
APN |
5 |
24,380,993 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL03190:Nos3
|
APN |
5 |
24,383,629 (GRCm38) |
missense |
probably damaging |
1.00 |
|
paul
|
UTSW |
5 |
24,372,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Peter
|
UTSW |
5 |
24,377,855 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R0111:Nos3
|
UTSW |
5 |
24,372,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0387:Nos3
|
UTSW |
5 |
24,367,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0755:Nos3
|
UTSW |
5 |
24,367,297 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1156:Nos3
|
UTSW |
5 |
24,377,619 (GRCm38) |
missense |
probably benign |
0.21 |
|
R1597:Nos3
|
UTSW |
5 |
24,368,997 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1671:Nos3
|
UTSW |
5 |
24,383,840 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1743:Nos3
|
UTSW |
5 |
24,377,312 (GRCm38) |
missense |
probably benign |
0.22 |
|
R1830:Nos3
|
UTSW |
5 |
24,370,133 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1882:Nos3
|
UTSW |
5 |
24,368,820 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2294:Nos3
|
UTSW |
5 |
24,364,857 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R3114:Nos3
|
UTSW |
5 |
24,372,631 (GRCm38) |
splice site |
probably benign |
|
|
R3978:Nos3
|
UTSW |
5 |
24,377,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R3980:Nos3
|
UTSW |
5 |
24,377,931 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4016:Nos3
|
UTSW |
5 |
24,371,716 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4905:Nos3
|
UTSW |
5 |
24,367,331 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4947:Nos3
|
UTSW |
5 |
24,377,855 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5017:Nos3
|
UTSW |
5 |
24,366,719 (GRCm38) |
intron |
probably benign |
|
|
R5095:Nos3
|
UTSW |
5 |
24,368,918 (GRCm38) |
splice site |
probably benign |
|
|
R5096:Nos3
|
UTSW |
5 |
24,371,957 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5311:Nos3
|
UTSW |
5 |
24,377,345 (GRCm38) |
missense |
probably benign |
0.19 |
|
R5330:Nos3
|
UTSW |
5 |
24,369,904 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5367:Nos3
|
UTSW |
5 |
24,371,944 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5394:Nos3
|
UTSW |
5 |
24,383,890 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5574:Nos3
|
UTSW |
5 |
24,368,861 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R5889:Nos3
|
UTSW |
5 |
24,368,777 (GRCm38) |
intron |
probably benign |
|
|
R6032:Nos3
|
UTSW |
5 |
24,379,811 (GRCm38) |
missense |
probably benign |
|
|
R6032:Nos3
|
UTSW |
5 |
24,379,811 (GRCm38) |
missense |
probably benign |
|
|
R6401:Nos3
|
UTSW |
5 |
24,379,811 (GRCm38) |
missense |
probably benign |
|
|
R6517:Nos3
|
UTSW |
5 |
24,383,624 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6888:Nos3
|
UTSW |
5 |
24,383,335 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6972:Nos3
|
UTSW |
5 |
24,380,243 (GRCm38) |
missense |
probably benign |
|
|
R6973:Nos3
|
UTSW |
5 |
24,380,243 (GRCm38) |
missense |
probably benign |
|
|
R7432:Nos3
|
UTSW |
5 |
24,367,615 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7434:Nos3
|
UTSW |
5 |
24,382,635 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7507:Nos3
|
UTSW |
5 |
24,372,644 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7553:Nos3
|
UTSW |
5 |
24,381,717 (GRCm38) |
missense |
possibly damaging |
0.62 |
|
R7652:Nos3
|
UTSW |
5 |
24,383,612 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8094:Nos3
|
UTSW |
5 |
24,367,220 (GRCm38) |
missense |
probably benign |
0.13 |
|
R8686:Nos3
|
UTSW |
5 |
24,368,843 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R8794:Nos3
|
UTSW |
5 |
24,371,747 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9016:Nos3
|
UTSW |
5 |
24,383,641 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9192:Nos3
|
UTSW |
5 |
24,377,613 (GRCm38) |
missense |
probably benign |
0.04 |
|
R9336:Nos3
|
UTSW |
5 |
24,379,763 (GRCm38) |
missense |
probably benign |
|
|
X0020:Nos3
|
UTSW |
5 |
24,370,124 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0061:Nos3
|
UTSW |
5 |
24,382,635 (GRCm38) |
missense |
probably damaging |
0.99 |
|
Z1176:Nos3
|
UTSW |
5 |
24,377,654 (GRCm38) |
missense |
probably benign |
0.02 |
|
Z1177:Nos3
|
UTSW |
5 |
24,383,950 (GRCm38) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACCCAAGGCACAGAATAG -3'
(R):5'- ATGGAAGAAAGCAGCTCCTG -3'
Sequencing Primer
(F):5'- GCACAGAATAGACTGGGTTTGC -3'
(R):5'- TGCCCAGACCTGCACTAAGTG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation