Incidental Mutation 'R4947:Nos3'
| ID |
383486 |
| 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 |
042544-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4947 (G1)
|
| Quality Score |
151 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24569808-24589472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24582853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 660
(C660Y)
|
| 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: C660Y
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: C660Y
| 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 |
possibly damaging
Transcript: ENSMUST00000115090
AA Change: C660Y
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: C660Y
| 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 |
0.8127 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.0%
- 20x: 87.4%
|
| Validation Efficiency |
100% (88/88) |
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
T |
A |
7: 130,959,343 (GRCm39) |
H119L |
probably damaging |
Het |
| Acvr1c |
T |
A |
2: 58,205,987 (GRCm39) |
Q41L |
probably benign |
Het |
| Adamtsl1 |
A |
T |
4: 85,683,037 (GRCm39) |
Q36L |
possibly damaging |
Het |
| Bcl2a1a |
G |
A |
9: 88,839,335 (GRCm39) |
E78K |
probably damaging |
Het |
| Cdk5rap2 |
A |
G |
4: 70,146,829 (GRCm39) |
|
probably null |
Het |
| Copg1 |
C |
A |
6: 87,880,455 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
C |
T |
2: 37,685,343 (GRCm39) |
|
probably benign |
Het |
| Cstdc6 |
T |
C |
16: 36,142,127 (GRCm39) |
Y83C |
probably damaging |
Het |
| Ctbp2 |
C |
A |
7: 132,601,012 (GRCm39) |
G584C |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,723,419 (GRCm39) |
N415S |
possibly damaging |
Het |
| D630003M21Rik |
T |
A |
2: 158,028,116 (GRCm39) |
T1095S |
unknown |
Het |
| D630045J12Rik |
C |
T |
6: 38,125,478 (GRCm39) |
R1512H |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,272,518 (GRCm39) |
V1078E |
probably benign |
Het |
| Donson |
A |
T |
16: 91,479,439 (GRCm39) |
D366E |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,114,201 (GRCm39) |
E1163G |
possibly damaging |
Het |
| Fcgbp |
A |
G |
7: 27,789,237 (GRCm39) |
K601R |
probably benign |
Het |
| Fez1 |
A |
C |
9: 36,780,171 (GRCm39) |
I323L |
probably damaging |
Het |
| Flacc1 |
T |
A |
1: 58,715,698 (GRCm39) |
T173S |
probably benign |
Het |
| Fmnl2 |
T |
G |
2: 52,963,722 (GRCm39) |
S285A |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,884,371 (GRCm39) |
S1194P |
probably damaging |
Het |
| Gm10754 |
A |
T |
10: 97,518,010 (GRCm39) |
|
probably benign |
Het |
| Gm14226 |
A |
T |
2: 154,866,879 (GRCm39) |
T279S |
probably benign |
Het |
| Gm16332 |
G |
A |
1: 139,793,730 (GRCm39) |
|
noncoding transcript |
Het |
| Gm21718 |
T |
A |
14: 51,553,416 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9871 |
A |
G |
6: 101,773,734 (GRCm39) |
|
noncoding transcript |
Het |
| Grm1 |
A |
G |
10: 10,658,377 (GRCm39) |
F371S |
probably damaging |
Het |
| Gtdc1 |
T |
C |
2: 44,481,968 (GRCm39) |
I128V |
probably null |
Het |
| H2-Q3 |
T |
A |
17: 35,578,708 (GRCm39) |
|
noncoding transcript |
Het |
| Ibtk |
T |
C |
9: 85,592,465 (GRCm39) |
T998A |
probably benign |
Het |
| Ifi204 |
A |
G |
1: 173,583,316 (GRCm39) |
S301P |
probably damaging |
Het |
| Kcnn1 |
C |
A |
8: 71,297,073 (GRCm39) |
A545S |
probably benign |
Het |
| Keap1 |
T |
G |
9: 21,148,849 (GRCm39) |
S53R |
probably benign |
Het |
| Lat |
A |
G |
7: 125,967,110 (GRCm39) |
V138A |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,078,966 (GRCm39) |
N249K |
probably benign |
Het |
| Lrrc40 |
A |
G |
3: 157,769,472 (GRCm39) |
I557V |
probably benign |
Het |
| Maml3 |
A |
G |
3: 51,763,960 (GRCm39) |
F335L |
probably benign |
Het |
| Mcmbp |
A |
T |
7: 128,314,420 (GRCm39) |
D265E |
probably damaging |
Het |
| Me3 |
A |
G |
7: 89,282,222 (GRCm39) |
H35R |
probably benign |
Het |
| Mif4gd |
C |
A |
11: 115,500,463 (GRCm39) |
V32L |
probably benign |
Het |
| Mlana |
T |
C |
19: 29,677,551 (GRCm39) |
S18P |
probably damaging |
Het |
| Mpnd |
T |
A |
17: 56,317,268 (GRCm39) |
|
probably benign |
Het |
| Ms4a4b |
T |
C |
19: 11,432,101 (GRCm39) |
V74A |
probably benign |
Het |
| Mta2 |
T |
C |
19: 8,923,655 (GRCm39) |
F133L |
possibly damaging |
Het |
| Myo5a |
A |
G |
9: 75,030,330 (GRCm39) |
M150V |
probably damaging |
Het |
| Nbr1 |
T |
C |
11: 101,465,903 (GRCm39) |
V487A |
probably benign |
Het |
| Ocln |
T |
C |
13: 100,676,223 (GRCm39) |
D90G |
probably damaging |
Het |
| Or12d17 |
T |
C |
17: 37,777,634 (GRCm39) |
V179A |
probably damaging |
Het |
| Or1e1c |
C |
T |
11: 73,266,243 (GRCm39) |
R223* |
probably null |
Het |
| Or52n5 |
A |
G |
7: 104,587,949 (GRCm39) |
D72G |
possibly damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,808 (GRCm39) |
L154P |
probably damaging |
Het |
| Pcdh7 |
A |
G |
5: 57,879,258 (GRCm39) |
K938E |
probably damaging |
Het |
| Pcgf3 |
T |
C |
5: 108,635,827 (GRCm39) |
F166L |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,015,981 (GRCm39) |
V128E |
possibly damaging |
Het |
| Polr3a |
A |
C |
14: 24,532,532 (GRCm39) |
D187E |
probably benign |
Het |
| Prokr2 |
T |
C |
2: 132,215,573 (GRCm39) |
D135G |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,424,527 (GRCm39) |
T14A |
possibly damaging |
Het |
| Serinc1 |
T |
C |
10: 57,399,141 (GRCm39) |
E254G |
probably damaging |
Het |
| Silc1 |
A |
T |
12: 27,210,227 (GRCm39) |
|
noncoding transcript |
Het |
| Skint11 |
T |
C |
4: 114,048,707 (GRCm39) |
F11L |
possibly damaging |
Het |
| Slc22a28 |
T |
C |
19: 8,108,816 (GRCm39) |
T109A |
probably benign |
Het |
| Sntg1 |
C |
A |
1: 8,853,022 (GRCm39) |
V43L |
probably damaging |
Het |
| Sp140l2 |
G |
A |
1: 85,090,203 (GRCm39) |
A124V |
probably damaging |
Het |
| Strn |
T |
C |
17: 78,969,208 (GRCm39) |
D398G |
probably damaging |
Het |
| Tacc2 |
A |
T |
7: 130,227,629 (GRCm39) |
E1438V |
probably damaging |
Het |
| Tas2r139 |
A |
G |
6: 42,118,500 (GRCm39) |
T211A |
possibly damaging |
Het |
| Tbkbp1 |
T |
C |
11: 97,029,770 (GRCm39) |
|
probably benign |
Het |
| Thbs3 |
T |
C |
3: 89,133,738 (GRCm39) |
Y897H |
probably damaging |
Het |
| Timm50 |
G |
T |
7: 28,009,469 (GRCm39) |
|
probably benign |
Het |
| Tmem132a |
T |
C |
19: 10,844,298 (GRCm39) |
Q100R |
possibly damaging |
Het |
| Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
| Unc93b1 |
C |
A |
19: 3,985,871 (GRCm39) |
T90K |
probably benign |
Het |
| Upk3bl |
T |
C |
5: 136,086,099 (GRCm39) |
|
probably benign |
Het |
| Vmn2r112 |
T |
A |
17: 22,821,860 (GRCm39) |
H179Q |
probably benign |
Het |
| Vmn2r57 |
A |
T |
7: 41,049,919 (GRCm39) |
F610Y |
probably damaging |
Het |
| Vmn2r80 |
T |
G |
10: 79,030,532 (GRCm39) |
L786R |
probably damaging |
Het |
| Zc3h14 |
A |
G |
12: 98,726,083 (GRCm39) |
T323A |
probably benign |
Het |
| Zfp532 |
T |
C |
18: 65,758,137 (GRCm39) |
I690T |
possibly damaging |
Het |
| Zfp729b |
T |
C |
13: 67,744,791 (GRCm39) |
N47S |
probably 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 |
|
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 |
|
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'- TCAACAGTGTCTCCTGCTCAG -3'
(R):5'- ACCATGGTGCTGATCCAGTC -3'
Sequencing Primer
(F):5'- CACTGGTATCCTCTTGGCGG -3'
(R):5'- TGATCCAGTCAGATACAGGGTACC -3'
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| Posted On |
2016-04-27 |
Incidental Mutation