Incidental Mutation 'R3978:Nos3'
| ID |
311116 |
| 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 |
040941-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3978 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
24569808-24589472 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 24582929 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 685
(D685E)
|
| 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: D685E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030834
Gene: ENSMUSG00000028978
AA Change: D685E
| 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: D685E
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110742
Gene: ENSMUSG00000028978
AA Change: D685E
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
T |
C |
3: 137,889,435 (GRCm39) |
T61A |
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,848,443 (GRCm39) |
V671A |
probably benign |
Het |
| Ankhd1 |
A |
T |
18: 36,780,666 (GRCm39) |
H1906L |
probably damaging |
Het |
| Ano5 |
G |
A |
7: 51,237,554 (GRCm39) |
V743I |
probably benign |
Het |
| Arfgef1 |
A |
G |
1: 10,279,859 (GRCm39) |
V236A |
probably benign |
Het |
| Arid2 |
A |
G |
15: 96,261,503 (GRCm39) |
D453G |
probably damaging |
Het |
| Atp2b1 |
C |
A |
10: 98,832,795 (GRCm39) |
|
probably null |
Het |
| Azin1 |
A |
T |
15: 38,498,957 (GRCm39) |
N135K |
probably damaging |
Het |
| B020004C17Rik |
G |
T |
14: 57,254,645 (GRCm39) |
M156I |
possibly damaging |
Het |
| Cfap54 |
T |
C |
10: 92,798,274 (GRCm39) |
T1662A |
probably benign |
Het |
| Cog8 |
T |
A |
8: 107,779,669 (GRCm39) |
I203F |
probably damaging |
Het |
| Col6a6 |
T |
C |
9: 105,576,078 (GRCm39) |
H2094R |
probably damaging |
Het |
| Cybb |
T |
C |
X: 9,310,827 (GRCm39) |
Y425C |
probably damaging |
Het |
| Dab2 |
A |
G |
15: 6,464,644 (GRCm39) |
|
probably null |
Het |
| Dpyd |
AAAT |
AAATGTATATAAAT |
3: 118,690,737 (GRCm39) |
|
probably benign |
Het |
| Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
| Eif3i |
T |
C |
4: 129,486,129 (GRCm39) |
E276G |
probably damaging |
Het |
| Fam171a1 |
A |
C |
2: 3,226,072 (GRCm39) |
M402L |
probably benign |
Het |
| Fga |
A |
T |
3: 82,937,490 (GRCm39) |
|
probably null |
Het |
| Foxp2 |
A |
G |
6: 15,197,207 (GRCm39) |
|
probably benign |
Het |
| Gbp2 |
C |
T |
3: 142,335,747 (GRCm39) |
T149I |
possibly damaging |
Het |
| Gm9631 |
A |
G |
11: 121,834,394 (GRCm39) |
Y281H |
possibly damaging |
Het |
| Gpr21 |
C |
T |
2: 37,407,862 (GRCm39) |
T136I |
probably benign |
Het |
| Gprc5b |
C |
T |
7: 118,583,354 (GRCm39) |
V172M |
probably damaging |
Het |
| Gprc6a |
C |
A |
10: 51,497,197 (GRCm39) |
V449L |
probably benign |
Het |
| Hdlbp |
T |
C |
1: 93,349,073 (GRCm39) |
I535V |
probably damaging |
Het |
| Helb |
A |
G |
10: 119,925,530 (GRCm39) |
V949A |
probably benign |
Het |
| Hoxc13 |
T |
C |
15: 102,829,675 (GRCm39) |
V18A |
possibly damaging |
Het |
| Hr |
A |
G |
14: 70,801,024 (GRCm39) |
T699A |
probably benign |
Het |
| Il27ra |
G |
A |
8: 84,767,313 (GRCm39) |
T170I |
probably benign |
Het |
| Insm2 |
T |
C |
12: 55,647,623 (GRCm39) |
Y456H |
probably benign |
Het |
| Katna1 |
T |
C |
10: 7,628,518 (GRCm39) |
M249T |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,357 (GRCm39) |
I298N |
possibly damaging |
Het |
| Lyst |
G |
A |
13: 13,808,753 (GRCm39) |
R141Q |
possibly damaging |
Het |
| Oasl1 |
C |
T |
5: 115,070,957 (GRCm39) |
T274I |
probably damaging |
Het |
| Or5p61 |
A |
G |
7: 107,758,819 (GRCm39) |
M87T |
possibly damaging |
Het |
| Pdgfrb |
A |
T |
18: 61,206,757 (GRCm39) |
H661L |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,666,490 (GRCm39) |
T399A |
possibly damaging |
Het |
| Ppp1ca |
T |
C |
19: 4,242,253 (GRCm39) |
I13T |
probably benign |
Het |
| Psmd1 |
T |
C |
1: 86,055,909 (GRCm39) |
M757T |
probably benign |
Het |
| Rdh19 |
A |
T |
10: 127,685,944 (GRCm39) |
R19W |
possibly damaging |
Het |
| Rfx7 |
A |
G |
9: 72,522,393 (GRCm39) |
T296A |
possibly damaging |
Het |
| Rgl2 |
G |
A |
17: 34,154,136 (GRCm39) |
R472H |
probably benign |
Het |
| Rhcg |
T |
C |
7: 79,267,147 (GRCm39) |
E43G |
probably benign |
Het |
| Rif1 |
T |
A |
2: 52,006,759 (GRCm39) |
|
probably null |
Het |
| Rorb |
A |
G |
19: 18,915,254 (GRCm39) |
V468A |
probably benign |
Het |
| Rxrb |
C |
T |
17: 34,255,300 (GRCm39) |
P209L |
possibly damaging |
Het |
| Sbf2 |
G |
T |
7: 109,929,092 (GRCm39) |
T1438K |
probably benign |
Het |
| Setd3 |
A |
T |
12: 108,124,201 (GRCm39) |
C163S |
possibly damaging |
Het |
| Slc15a1 |
C |
T |
14: 121,727,239 (GRCm39) |
D110N |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,515,859 (GRCm39) |
|
probably null |
Het |
| Slc5a5 |
A |
G |
8: 71,342,039 (GRCm39) |
V305A |
probably benign |
Het |
| Slc6a6 |
A |
T |
6: 91,732,033 (GRCm39) |
M621L |
probably benign |
Het |
| Smgc |
A |
T |
15: 91,744,546 (GRCm39) |
D301V |
probably damaging |
Het |
| Spata31d1c |
A |
G |
13: 65,182,974 (GRCm39) |
D172G |
possibly damaging |
Het |
| Syt15 |
T |
A |
14: 33,945,061 (GRCm39) |
C203S |
probably benign |
Het |
| Tdrd1 |
A |
G |
19: 56,855,066 (GRCm39) |
R1171G |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,639,490 (GRCm39) |
|
probably benign |
Het |
| Tspan9 |
A |
G |
6: 127,944,210 (GRCm39) |
V30A |
probably damaging |
Het |
| Ubp1 |
A |
T |
9: 113,785,773 (GRCm39) |
|
probably null |
Het |
| Vmn2r68 |
T |
A |
7: 84,881,670 (GRCm39) |
Y470F |
probably benign |
Het |
| Wbp1l |
T |
A |
19: 46,642,396 (GRCm39) |
|
probably null |
Het |
| Wee1 |
G |
T |
7: 109,723,762 (GRCm39) |
D226Y |
probably damaging |
Het |
| Yap1 |
C |
T |
9: 8,004,285 (GRCm39) |
G36D |
probably damaging |
Het |
| Zmym6 |
T |
C |
4: 127,017,348 (GRCm39) |
I951T |
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 |
|
|
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 |
|
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'- GGTAAACTTGGGCTGGCATG -3'
(R):5'- GGCTGATTCTGGAAGAGTAGC -3'
Sequencing Primer
(F):5'- GCTGGCATGGGGACTCC -3'
(R):5'- ATTAGGAAGTGAGTCTCCAGCCTC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation