Incidental Mutation 'R7465:Nostrin'
| ID |
578682 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nostrin
|
| Ensembl Gene |
ENSMUSG00000034738 |
| Gene Name |
nitric oxide synthase trafficker |
| Synonyms |
mDaIP2 |
| MMRRC Submission |
045539-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.362)
|
| Stock # |
R7465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
68966144-69019674 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 69015851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 448
(T448M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041865]
|
| AlphaFold |
Q6WKZ7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041865
AA Change: T448M
PolyPhen 2
Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: T448M
| 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 |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
T |
13: 30,565,964 (GRCm39) |
D343V |
probably benign |
Het |
| Anks1 |
G |
A |
17: 28,273,297 (GRCm39) |
R972Q |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,599,763 (GRCm39) |
K543E |
probably benign |
Het |
| Atp8b5 |
G |
A |
4: 43,271,269 (GRCm39) |
V4I |
probably benign |
Het |
| Bcar3 |
A |
T |
3: 122,316,879 (GRCm39) |
N617Y |
probably benign |
Het |
| Blm |
A |
G |
7: 80,162,863 (GRCm39) |
S163P |
probably benign |
Het |
| Cbx3 |
A |
G |
6: 51,455,510 (GRCm39) |
D87G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,917,593 (GRCm39) |
S127P |
probably benign |
Het |
| Cndp1 |
A |
T |
18: 84,637,666 (GRCm39) |
M356K |
probably damaging |
Het |
| Cnn2 |
G |
A |
10: 79,828,361 (GRCm39) |
E113K |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,656,544 (GRCm39) |
R573* |
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,501,991 (GRCm39) |
E49V |
probably damaging |
Het |
| Dipk1a |
T |
C |
5: 108,057,550 (GRCm39) |
D336G |
probably damaging |
Het |
| Dynlrb2 |
T |
A |
8: 117,241,696 (GRCm39) |
V80E |
possibly damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,088,001 (GRCm39) |
V386A |
probably benign |
Het |
| Elfn1 |
C |
T |
5: 139,957,842 (GRCm39) |
P282L |
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,003,386 (GRCm39) |
T812I |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,497,189 (GRCm39) |
V4225I |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,833,072 (GRCm39) |
C1873R |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,647,755 (GRCm39) |
I66T |
probably benign |
Het |
| Gabrr1 |
C |
A |
4: 33,146,970 (GRCm39) |
D52E |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,582,249 (GRCm39) |
L390P |
probably damaging |
Het |
| Il27ra |
T |
A |
8: 84,766,241 (GRCm39) |
D181V |
probably benign |
Het |
| Irgq |
C |
A |
7: 24,233,834 (GRCm39) |
H558Q |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,756,983 (GRCm39) |
Q1358* |
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,507,847 (GRCm39) |
G3197S |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,651,543 (GRCm39) |
Y1733C |
probably damaging |
Het |
| Mapk7 |
G |
A |
11: 61,381,279 (GRCm39) |
A510V |
probably damaging |
Het |
| Mtch1 |
A |
T |
17: 29,551,698 (GRCm39) |
C385S |
probably benign |
Het |
| Nfib |
A |
G |
4: 82,271,758 (GRCm39) |
|
probably null |
Het |
| Or12j4 |
T |
A |
7: 140,046,711 (GRCm39) |
V199D |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,880 (GRCm39) |
L64P |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,124 (GRCm39) |
Y272H |
probably benign |
Het |
| Or5a3 |
T |
A |
19: 12,400,509 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,801 (GRCm39) |
I232V |
probably benign |
Het |
| Or8k28 |
A |
G |
2: 86,286,150 (GRCm39) |
V155A |
probably benign |
Het |
| Pcdha2 |
T |
C |
18: 37,073,383 (GRCm39) |
V338A |
probably damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,798 (GRCm39) |
T400A |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,145,794 (GRCm39) |
S2710N |
probably benign |
Het |
| Ppp4r1 |
T |
A |
17: 66,138,015 (GRCm39) |
Y591* |
probably null |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,925 (GRCm39) |
E99G |
possibly damaging |
Het |
| Rd3l |
A |
T |
12: 111,945,916 (GRCm39) |
W188R |
probably damaging |
Het |
| Sap30bp |
A |
G |
11: 115,842,794 (GRCm39) |
D89G |
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,066,114 (GRCm39) |
T1985A |
probably benign |
Het |
| Tec |
T |
C |
5: 72,931,223 (GRCm39) |
Y247C |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,716,063 (GRCm39) |
|
probably null |
Het |
| Tex14 |
T |
C |
11: 87,405,256 (GRCm39) |
S723P |
possibly damaging |
Het |
| Thumpd3 |
T |
A |
6: 113,024,592 (GRCm39) |
L62Q |
probably damaging |
Het |
| Tlr12 |
A |
T |
4: 128,509,963 (GRCm39) |
D762E |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Txndc16 |
T |
A |
14: 45,402,845 (GRCm39) |
I316F |
probably damaging |
Het |
| Vamp1 |
T |
C |
6: 125,195,538 (GRCm39) |
S2P |
unknown |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,086 (GRCm39) |
M194L |
probably benign |
Het |
| Zfp874a |
T |
A |
13: 67,590,376 (GRCm39) |
Q436L |
probably 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 |
|
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 |
|
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'- GAAGTGTTCCTCCAGCATTTG -3'
(R):5'- TCTCTGTACTCTTGAGAATGACTG -3'
Sequencing Primer
(F):5'- TCAGGGTTTTGGCTATATAATATGC -3'
(R):5'- CTTGAGAATGACTGTCAGCCTCAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation