Incidental Mutation 'R7802:Nostrin'
ID |
600560 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nostrin
|
Ensembl Gene |
ENSMUSG00000034738 |
Gene Name |
nitric oxide synthase trafficker |
Synonyms |
mDaIP2 |
MMRRC Submission |
045857-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.362)
|
Stock # |
R7802 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
68966144-69019674 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 69019356 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 467
(V467A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000036923
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000005365]
[ENSMUST00000041865]
[ENSMUST00000112320]
[ENSMUST00000127243]
[ENSMUST00000167875]
|
AlphaFold |
Q6WKZ7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000005365
|
SMART Domains |
Protein: ENSMUSP00000005365 Gene: ENSMUSG00000005233
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
Pfam:Spindle_Spc25
|
148 |
222 |
6.3e-27 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000041865
AA Change: V467A
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000036923 Gene: ENSMUSG00000034738 AA Change: V467A
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 |
probably benign
Transcript: ENSMUST00000112320
|
SMART Domains |
Protein: ENSMUSP00000107939 Gene: ENSMUSG00000005233
Domain | Start | End | E-Value | Type |
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
Pfam:Spindle_Spc25
|
150 |
221 |
1.3e-23 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000127243
|
SMART Domains |
Protein: ENSMUSP00000120142 Gene: ENSMUSG00000005233
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
coiled coil region
|
57 |
113 |
N/A |
INTRINSIC |
Pfam:Spindle_Spc25
|
133 |
207 |
4.5e-24 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167875
|
SMART Domains |
Protein: ENSMUSP00000128039 Gene: ENSMUSG00000005233
Domain | Start | End | E-Value | Type |
Pfam:Spindle_Spc25
|
100 |
174 |
1.7e-27 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
97% (35/36) |
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 |
Abl1 |
T |
C |
2: 31,650,438 (GRCm39) |
V12A |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,165,518 (GRCm39) |
F983S |
probably benign |
Het |
Cecr2 |
T |
C |
6: 120,720,808 (GRCm39) |
I312T |
probably benign |
Het |
Col6a2 |
A |
T |
10: 76,439,632 (GRCm39) |
W711R |
probably damaging |
Het |
Epb41l4a |
A |
G |
18: 33,961,227 (GRCm39) |
F436L |
probably benign |
Het |
Epha1 |
C |
T |
6: 42,338,875 (GRCm39) |
R641Q |
possibly damaging |
Het |
Ercc6 |
C |
A |
14: 32,239,260 (GRCm39) |
A116E |
probably damaging |
Het |
Ermard |
A |
G |
17: 15,281,423 (GRCm39) |
E611G |
probably benign |
Het |
Galnt16 |
T |
G |
12: 80,628,021 (GRCm39) |
I239S |
probably damaging |
Het |
Gna15 |
T |
C |
10: 81,350,175 (GRCm39) |
R76G |
probably benign |
Het |
Herc2 |
A |
G |
7: 55,813,838 (GRCm39) |
Y2657C |
probably damaging |
Het |
Mapkapk2 |
T |
C |
1: 130,984,639 (GRCm39) |
I238V |
possibly damaging |
Het |
Med13l |
T |
C |
5: 118,866,655 (GRCm39) |
S570P |
probably benign |
Het |
Mrap |
C |
T |
16: 90,546,247 (GRCm39) |
T112M |
probably benign |
Het |
Nadsyn1 |
T |
C |
7: 143,359,763 (GRCm39) |
Q403R |
probably benign |
Het |
Palb2 |
A |
T |
7: 121,710,119 (GRCm39) |
|
probably null |
Het |
Parp16 |
A |
G |
9: 65,137,179 (GRCm39) |
N135S |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,211,137 (GRCm39) |
|
probably null |
Het |
Pde8b |
T |
C |
13: 95,237,446 (GRCm39) |
D116G |
probably damaging |
Het |
Pierce1 |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC |
2: 28,356,122 (GRCm39) |
|
probably benign |
Het |
Psmc5 |
T |
C |
11: 106,152,538 (GRCm39) |
|
probably null |
Het |
Rsf1 |
G |
T |
7: 97,310,979 (GRCm39) |
V570F |
|
Het |
Rundc3a |
A |
G |
11: 102,290,835 (GRCm39) |
E306G |
probably benign |
Het |
Serpinb6b |
C |
T |
13: 33,155,579 (GRCm39) |
|
|
Het |
Setx |
A |
G |
2: 29,037,033 (GRCm39) |
T1173A |
probably benign |
Het |
Slamf8 |
A |
G |
1: 172,415,677 (GRCm39) |
S54P |
probably damaging |
Het |
Slc5a2 |
A |
C |
7: 127,870,970 (GRCm39) |
D570A |
possibly damaging |
Het |
Slco5a1 |
T |
A |
1: 13,060,700 (GRCm39) |
Q7L |
possibly damaging |
Het |
Stt3b |
G |
T |
9: 115,105,949 (GRCm39) |
S175R |
probably damaging |
Het |
Taar6 |
T |
A |
10: 23,861,151 (GRCm39) |
I132F |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,689,500 (GRCm39) |
V2029A |
probably damaging |
Het |
Tgm4 |
A |
G |
9: 122,880,401 (GRCm39) |
|
probably benign |
Het |
Tmt1a |
A |
T |
15: 100,203,182 (GRCm39) |
N152I |
possibly damaging |
Het |
Togaram1 |
T |
A |
12: 65,013,758 (GRCm39) |
C336* |
probably null |
Het |
Ttn |
G |
A |
2: 76,768,015 (GRCm39) |
T3028M |
unknown |
Het |
Vmn2r25 |
A |
T |
6: 123,828,791 (GRCm39) |
I161N |
possibly damaging |
Het |
Vwf |
T |
C |
6: 125,643,640 (GRCm39) |
C2394R |
|
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 |
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 |
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'- AACTCTTAGCACAGCGCAGTC -3'
(R):5'- TGTTTACAGAATGTGCAAAGGCC -3'
Sequencing Primer
(F):5'- CCTGCTAGCATTCTCTGTATTGTGG -3'
(R):5'- AATGTGCAAAGGCCATTCTGTG -3'
|
Posted On |
2019-11-26 |