Incidental Mutation 'R6561:Nostrin'
ID |
523125 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nostrin
|
Ensembl Gene |
ENSMUSG00000034738 |
Gene Name |
nitric oxide synthase trafficker |
Synonyms |
mDaIP2 |
MMRRC Submission |
044685-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.362)
|
Stock # |
R6561 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
68966144-69019674 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 69011201 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 331
(A331T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041865]
|
AlphaFold |
Q6WKZ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041865
AA Change: A331T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000036923 Gene: ENSMUSG00000034738 AA Change: A331T
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
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.2%
- 20x: 96.9%
|
Validation Efficiency |
97% (30/31) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
T |
5: 8,977,825 (GRCm39) |
I468F |
probably benign |
Het |
Ahsa2 |
T |
A |
11: 23,441,036 (GRCm39) |
I202F |
possibly damaging |
Het |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Anapc1 |
A |
G |
2: 128,505,919 (GRCm39) |
V639A |
probably damaging |
Het |
Cdh12 |
A |
G |
15: 21,492,680 (GRCm39) |
Y233C |
probably damaging |
Het |
Dchs2 |
G |
T |
3: 83,036,476 (GRCm39) |
V408F |
probably benign |
Het |
Dnmt3c |
T |
A |
2: 153,561,950 (GRCm39) |
L551Q |
probably damaging |
Het |
Dock2 |
A |
G |
11: 34,578,365 (GRCm39) |
F746S |
probably damaging |
Het |
Fastkd3 |
C |
T |
13: 68,732,149 (GRCm39) |
R157C |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ier3ip1 |
T |
A |
18: 77,027,344 (GRCm39) |
S58T |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,135,504 (GRCm39) |
V1809A |
probably damaging |
Het |
Kif22 |
T |
A |
7: 126,630,225 (GRCm39) |
N437I |
probably benign |
Het |
Klri1 |
A |
G |
6: 129,693,964 (GRCm39) |
V41A |
probably benign |
Het |
Lrrc14 |
T |
A |
15: 76,597,646 (GRCm39) |
D125E |
possibly damaging |
Het |
Nek10 |
A |
T |
14: 14,828,448 (GRCm38) |
N90I |
possibly damaging |
Het |
Or4k2 |
T |
C |
14: 50,423,775 (GRCm39) |
K300E |
probably damaging |
Het |
Or5b109 |
A |
G |
19: 13,212,394 (GRCm39) |
Y260C |
probably damaging |
Het |
Or8b12i |
T |
C |
9: 20,082,073 (GRCm39) |
T265A |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,333,960 (GRCm39) |
V223A |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Skic3 |
T |
A |
13: 76,298,638 (GRCm39) |
S1115T |
probably damaging |
Het |
Smg1 |
A |
T |
7: 117,765,300 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
A |
G |
19: 40,314,496 (GRCm39) |
I772T |
probably benign |
Het |
Sptbn2 |
A |
G |
19: 4,797,954 (GRCm39) |
N1927S |
probably benign |
Het |
Tab1 |
T |
C |
15: 80,033,031 (GRCm39) |
V105A |
probably benign |
Het |
Trbv15 |
A |
T |
6: 41,118,414 (GRCm39) |
T57S |
probably benign |
Het |
Vmn1r78 |
A |
T |
7: 11,886,826 (GRCm39) |
I146F |
probably damaging |
Het |
Vmn2r39 |
T |
A |
7: 9,018,092 (GRCm39) |
Y748F |
probably damaging |
Het |
Zfp493 |
T |
A |
13: 67,934,338 (GRCm39) |
V65D |
possibly damaging |
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 |
|
IGL02213:Nostrin
|
APN |
2 |
69,014,262 (GRCm39) |
missense |
probably benign |
0.25 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AATTTCCTTAGCTGAGGGTGGC -3'
(R):5'- CACTCGATTGTTCTGAGTCAGG -3'
Sequencing Primer
(F):5'- GAGTAAGACTCTGTGACTCCTACAG -3'
(R):5'- CTCGATTGTTCTGAGTCAGGAGGAAG -3'
|
Posted On |
2018-06-06 |