Incidental Mutation 'IGL02213:Nostrin'
| ID |
284764 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nostrin
|
| Ensembl Gene |
ENSMUSG00000034738 |
| Gene Name |
nitric oxide synthase trafficker |
| Synonyms |
mDaIP2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.362)
|
| Stock # |
IGL02213
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
68966144-69019674 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69014262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 406
(L406P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041865]
|
| AlphaFold |
Q6WKZ7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041865
AA Change: L406P
PolyPhen 2
Score 0.252 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: L406P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FCH
|
13 |
88 |
4.9e-12 |
PFAM |
|
low complexity region
|
135 |
146 |
N/A |
INTRINSIC |
|
coiled coil region
|
160 |
190 |
N/A |
INTRINSIC |
|
coiled coil region
|
305 |
334 |
N/A |
INTRINSIC |
|
low complexity region
|
419 |
439 |
N/A |
INTRINSIC |
|
SH3
|
441 |
496 |
8.89e-23 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141276
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nitric oxide (NO) is a potent mediator in biologic processes such as neurotransmission, inflammatory response, and vascular homeostasis. NOSTRIN binds the enzyme responsible for NO production, endothelial NO synthase (ENOS; MIM 163729), and triggers the translocation of ENOS from the plasma membrane to vesicle-like subcellular structures, thereby attenuating ENOS-dependent NO production.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired retinal vascular angiogenesis, endothelial cell proliferation, endothelial cell migration and induced neovascularization. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsbg1 |
G |
A |
9: 54,523,254 (GRCm39) |
R458C |
probably damaging |
Het |
| Aldh6a1 |
T |
A |
12: 84,479,326 (GRCm39) |
|
probably benign |
Het |
| Ankrd13a |
C |
T |
5: 114,924,029 (GRCm39) |
R42W |
probably damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,539,633 (GRCm39) |
M73V |
probably benign |
Het |
| Borcs6 |
A |
G |
11: 68,950,679 (GRCm39) |
E19G |
probably benign |
Het |
| Cacna2d2 |
C |
T |
9: 107,391,247 (GRCm39) |
R425C |
probably damaging |
Het |
| Cap2 |
T |
A |
13: 46,789,087 (GRCm39) |
|
probably benign |
Het |
| Ccdc146 |
C |
T |
5: 21,521,902 (GRCm39) |
R374H |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,235,839 (GRCm39) |
|
probably benign |
Het |
| Cyp3a57 |
A |
G |
5: 145,318,090 (GRCm39) |
D357G |
probably damaging |
Het |
| Dleu7 |
C |
T |
14: 62,514,404 (GRCm39) |
V193M |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,010,741 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
T |
A |
1: 46,272,752 (GRCm39) |
F2293L |
probably damaging |
Het |
| Fgf22 |
G |
T |
10: 79,592,449 (GRCm39) |
V75L |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,793,730 (GRCm39) |
C1017* |
probably null |
Het |
| Frmd3 |
A |
C |
4: 74,054,109 (GRCm39) |
I173L |
probably benign |
Het |
| Fst |
T |
C |
13: 114,592,390 (GRCm39) |
N109S |
possibly damaging |
Het |
| Greb1 |
A |
G |
12: 16,756,233 (GRCm39) |
L801P |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,715,502 (GRCm39) |
D515G |
probably damaging |
Het |
| Kcnh7 |
T |
C |
2: 62,569,706 (GRCm39) |
D730G |
probably damaging |
Het |
| Mbd1 |
A |
T |
18: 74,408,453 (GRCm39) |
I231F |
probably damaging |
Het |
| Mre11a |
T |
A |
9: 14,723,180 (GRCm39) |
F358I |
probably damaging |
Het |
| Mroh9 |
G |
T |
1: 162,885,648 (GRCm39) |
T328K |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,112,679 (GRCm39) |
Q159L |
probably benign |
Het |
| Oca2 |
T |
C |
7: 55,971,232 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
A |
T |
2: 111,495,020 (GRCm39) |
T150S |
probably benign |
Het |
| Or51af1 |
T |
A |
7: 103,141,695 (GRCm39) |
H130L |
probably benign |
Het |
| Or5p54 |
T |
C |
7: 107,554,511 (GRCm39) |
I221T |
probably damaging |
Het |
| Pfdn4 |
C |
T |
2: 170,357,695 (GRCm39) |
Q21* |
probably null |
Het |
| Pkd1l3 |
T |
C |
8: 110,357,977 (GRCm39) |
F823S |
probably damaging |
Het |
| Rnf212 |
C |
T |
5: 108,895,276 (GRCm39) |
|
probably benign |
Het |
| Sbspon |
T |
C |
1: 15,929,150 (GRCm39) |
S214G |
probably benign |
Het |
| Slc12a7 |
T |
C |
13: 73,945,822 (GRCm39) |
|
probably null |
Het |
| Ugt3a1 |
A |
T |
15: 9,370,310 (GRCm39) |
M485L |
probably benign |
Het |
| Vav1 |
T |
C |
17: 57,612,351 (GRCm39) |
V561A |
possibly damaging |
Het |
| Vldlr |
A |
G |
19: 27,218,726 (GRCm39) |
T485A |
probably benign |
Het |
| Wiz |
T |
C |
17: 32,586,834 (GRCm39) |
T159A |
probably benign |
Het |
|
| Other mutations in Nostrin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Nostrin
|
APN |
2 |
69,015,898 (GRCm39) |
splice site |
probably benign |
|
|
IGL00502:Nostrin
|
APN |
2 |
69,014,336 (GRCm39) |
missense |
probably benign |
|
|
IGL00767:Nostrin
|
APN |
2 |
69,006,119 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00846:Nostrin
|
APN |
2 |
69,015,899 (GRCm39) |
splice site |
probably benign |
|
|
IGL00912:Nostrin
|
APN |
2 |
69,013,163 (GRCm39) |
splice site |
probably benign |
|
|
IGL02123:Nostrin
|
APN |
2 |
68,986,453 (GRCm39) |
splice site |
probably benign |
|
|
R0295:Nostrin
|
UTSW |
2 |
69,009,760 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0543:Nostrin
|
UTSW |
2 |
69,019,475 (GRCm39) |
makesense |
probably null |
|
|
R1384:Nostrin
|
UTSW |
2 |
69,019,406 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1501:Nostrin
|
UTSW |
2 |
68,989,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Nostrin
|
UTSW |
2 |
69,006,078 (GRCm39) |
missense |
probably benign |
0.21 |
|
R2012:Nostrin
|
UTSW |
2 |
68,975,111 (GRCm39) |
splice site |
probably null |
|
|
R2140:Nostrin
|
UTSW |
2 |
68,996,347 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2159:Nostrin
|
UTSW |
2 |
69,011,266 (GRCm39) |
splice site |
probably null |
|
|
R2329:Nostrin
|
UTSW |
2 |
68,991,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2890:Nostrin
|
UTSW |
2 |
69,011,249 (GRCm39) |
missense |
probably benign |
|
|
R4469:Nostrin
|
UTSW |
2 |
69,006,061 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4607:Nostrin
|
UTSW |
2 |
69,014,243 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4608:Nostrin
|
UTSW |
2 |
69,014,243 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4684:Nostrin
|
UTSW |
2 |
69,014,268 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4719:Nostrin
|
UTSW |
2 |
68,975,156 (GRCm39) |
nonsense |
probably null |
|
|
R4846:Nostrin
|
UTSW |
2 |
69,005,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4911:Nostrin
|
UTSW |
2 |
68,991,486 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4987:Nostrin
|
UTSW |
2 |
68,986,775 (GRCm39) |
missense |
probably benign |
|
|
R5054:Nostrin
|
UTSW |
2 |
69,006,057 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5177:Nostrin
|
UTSW |
2 |
69,006,098 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6561:Nostrin
|
UTSW |
2 |
69,011,201 (GRCm39) |
missense |
probably benign |
|
|
R6785:Nostrin
|
UTSW |
2 |
69,014,271 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6789:Nostrin
|
UTSW |
2 |
69,005,856 (GRCm39) |
missense |
probably benign |
|
|
R7453:Nostrin
|
UTSW |
2 |
69,014,240 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7465:Nostrin
|
UTSW |
2 |
69,015,851 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7570:Nostrin
|
UTSW |
2 |
69,006,150 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7761:Nostrin
|
UTSW |
2 |
68,991,466 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7802:Nostrin
|
UTSW |
2 |
69,019,356 (GRCm39) |
missense |
probably benign |
0.18 |
|
R8115:Nostrin
|
UTSW |
2 |
69,011,264 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8160:Nostrin
|
UTSW |
2 |
69,009,810 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8844:Nostrin
|
UTSW |
2 |
69,006,060 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9046:Nostrin
|
UTSW |
2 |
68,975,123 (GRCm39) |
missense |
probably benign |
|
|
X0021:Nostrin
|
UTSW |
2 |
68,975,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation