Incidental Mutation 'R4846:Nostrin'
| ID |
372148 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nostrin
|
| Ensembl Gene |
ENSMUSG00000034738 |
| Gene Name |
nitric oxide synthase trafficker |
| Synonyms |
mDaIP2 |
| MMRRC Submission |
042459-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
R4846 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
69135800-69189330 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 69175579 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 235
(S235P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000036923
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041865]
|
| AlphaFold |
Q6WKZ7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041865
AA Change: S235P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000036923
Gene: ENSMUSG00000034738
AA Change: S235P
| 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 |
0.2097 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
100% (60/60) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700014D04Rik |
T |
C |
13: 59,742,233 (GRCm38) |
D591G |
probably benign |
Het |
| 9930012K11Rik |
T |
A |
14: 70,155,943 (GRCm38) |
H299L |
probably damaging |
Het |
| Abcb4 |
C |
T |
5: 8,935,180 (GRCm38) |
A687V |
probably benign |
Het |
| Adam20 |
A |
G |
8: 40,795,011 (GRCm38) |
T53A |
probably benign |
Het |
| Afg1l |
G |
A |
10: 42,454,494 (GRCm38) |
T59I |
probably benign |
Het |
| AI837181 |
A |
G |
19: 5,426,301 (GRCm38) |
Q164R |
probably benign |
Het |
| Anapc15 |
T |
A |
7: 101,897,767 (GRCm38) |
I12N |
probably benign |
Het |
| Ankrd55 |
A |
C |
13: 112,363,454 (GRCm38) |
E278D |
probably benign |
Het |
| Axin2 |
A |
G |
11: 108,942,299 (GRCm38) |
T437A |
probably benign |
Het |
| BC051665 |
T |
C |
13: 60,784,081 (GRCm38) |
D168G |
probably damaging |
Het |
| Btbd11 |
A |
G |
10: 85,629,266 (GRCm38) |
T657A |
probably damaging |
Het |
| Cd200 |
C |
T |
16: 45,392,301 (GRCm38) |
R261H |
probably benign |
Het |
| Clk1 |
G |
A |
1: 58,421,102 (GRCm38) |
S123L |
probably benign |
Het |
| Csrnp2 |
A |
T |
15: 100,484,690 (GRCm38) |
D156E |
probably damaging |
Het |
| Ctss |
C |
T |
3: 95,545,384 (GRCm38) |
Q159* |
probably null |
Het |
| Dip2a |
A |
G |
10: 76,321,493 (GRCm38) |
S93P |
probably damaging |
Het |
| Dnase1l1 |
C |
T |
X: 74,277,038 (GRCm38) |
|
probably null |
Het |
| Dync1h1 |
C |
A |
12: 110,658,126 (GRCm38) |
T3700N |
probably damaging |
Het |
| Ephb6 |
G |
A |
6: 41,616,809 (GRCm38) |
R542Q |
probably benign |
Het |
| Fmo3 |
T |
C |
1: 162,954,311 (GRCm38) |
D491G |
possibly damaging |
Het |
| Galnt14 |
A |
T |
17: 73,536,893 (GRCm38) |
M140K |
probably benign |
Het |
| Ghsr |
T |
C |
3: 27,371,837 (GRCm38) |
V14A |
probably benign |
Het |
| Gm17546 |
C |
A |
15: 95,829,962 (GRCm38) |
|
probably benign |
Het |
| Gprc5c |
G |
T |
11: 114,864,267 (GRCm38) |
V257L |
possibly damaging |
Het |
| Hc |
A |
G |
2: 35,019,670 (GRCm38) |
V866A |
probably benign |
Het |
| Hoxb6 |
G |
A |
11: 96,299,522 (GRCm38) |
G116R |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,920,606 (GRCm38) |
Y43C |
probably damaging |
Het |
| Jade2 |
T |
C |
11: 51,821,148 (GRCm38) |
T495A |
probably benign |
Het |
| Kansl1 |
A |
T |
11: 104,342,972 (GRCm38) |
V755E |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,479,113 (GRCm38) |
D2814V |
probably damaging |
Het |
| Mbd5 |
T |
A |
2: 49,256,997 (GRCm38) |
N406K |
probably damaging |
Het |
| Met |
A |
T |
6: 17,491,929 (GRCm38) |
D230V |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,482,836 (GRCm38) |
V78D |
probably damaging |
Het |
| Mrpl20 |
A |
G |
4: 155,808,536 (GRCm38) |
T112A |
possibly damaging |
Het |
| Nek11 |
T |
A |
9: 105,163,163 (GRCm38) |
E566D |
probably damaging |
Het |
| Npas4 |
C |
A |
19: 4,986,777 (GRCm38) |
S453I |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,862,403 (GRCm38) |
S113L |
probably damaging |
Het |
| Psg18 |
A |
T |
7: 18,350,786 (GRCm38) |
Y128* |
probably null |
Het |
| Ptges3l |
A |
T |
11: 101,419,184 (GRCm38) |
|
probably benign |
Het |
| Pus1 |
T |
C |
5: 110,779,930 (GRCm38) |
|
probably benign |
Het |
| Raf1 |
T |
A |
6: 115,644,583 (GRCm38) |
S12C |
possibly damaging |
Het |
| Rps6-ps2 |
T |
G |
8: 88,806,578 (GRCm38) |
|
noncoding transcript |
Het |
| Slc5a4b |
A |
G |
10: 76,062,239 (GRCm38) |
L547P |
probably damaging |
Het |
| Socs3 |
A |
G |
11: 117,967,828 (GRCm38) |
S135P |
probably benign |
Het |
| St5 |
C |
A |
7: 109,556,836 (GRCm38) |
E236* |
probably null |
Het |
| Stra6l |
G |
A |
4: 45,873,682 (GRCm38) |
V281M |
possibly damaging |
Het |
| Suco |
G |
A |
1: 161,834,408 (GRCm38) |
T818I |
possibly damaging |
Het |
| Syde1 |
A |
T |
10: 78,588,897 (GRCm38) |
V367D |
probably damaging |
Het |
| Tet3 |
A |
T |
6: 83,376,883 (GRCm38) |
L932* |
probably null |
Het |
| Trpm7 |
G |
A |
2: 126,813,185 (GRCm38) |
L1278F |
possibly damaging |
Het |
| Vmn1r168 |
A |
T |
7: 23,541,065 (GRCm38) |
T116S |
probably damaging |
Het |
| Wfdc6b |
A |
G |
2: 164,617,294 (GRCm38) |
Q92R |
possibly damaging |
Het |
|
| Other mutations in Nostrin |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Nostrin
|
APN |
2 |
69,185,554 (GRCm38) |
splice site |
probably benign |
|
|
IGL00502:Nostrin
|
APN |
2 |
69,183,992 (GRCm38) |
missense |
probably benign |
|
|
IGL00767:Nostrin
|
APN |
2 |
69,175,775 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00846:Nostrin
|
APN |
2 |
69,185,555 (GRCm38) |
splice site |
probably benign |
|
|
IGL00912:Nostrin
|
APN |
2 |
69,182,819 (GRCm38) |
splice site |
probably benign |
|
|
IGL02123:Nostrin
|
APN |
2 |
69,156,109 (GRCm38) |
splice site |
probably benign |
|
|
IGL02213:Nostrin
|
APN |
2 |
69,183,918 (GRCm38) |
missense |
probably benign |
0.25 |
|
R0295:Nostrin
|
UTSW |
2 |
69,179,416 (GRCm38) |
missense |
probably benign |
0.19 |
|
R0543:Nostrin
|
UTSW |
2 |
69,189,131 (GRCm38) |
makesense |
probably null |
|
|
R1384:Nostrin
|
UTSW |
2 |
69,189,062 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1501:Nostrin
|
UTSW |
2 |
69,158,785 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1632:Nostrin
|
UTSW |
2 |
69,175,734 (GRCm38) |
missense |
probably benign |
0.21 |
|
R2012:Nostrin
|
UTSW |
2 |
69,144,767 (GRCm38) |
splice site |
probably null |
|
|
R2140:Nostrin
|
UTSW |
2 |
69,166,003 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2159:Nostrin
|
UTSW |
2 |
69,180,922 (GRCm38) |
splice site |
probably null |
|
|
R2329:Nostrin
|
UTSW |
2 |
69,161,094 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2890:Nostrin
|
UTSW |
2 |
69,180,905 (GRCm38) |
missense |
probably benign |
|
|
R4469:Nostrin
|
UTSW |
2 |
69,175,717 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4607:Nostrin
|
UTSW |
2 |
69,183,899 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4608:Nostrin
|
UTSW |
2 |
69,183,899 (GRCm38) |
missense |
possibly damaging |
0.89 |
|
R4684:Nostrin
|
UTSW |
2 |
69,183,924 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4719:Nostrin
|
UTSW |
2 |
69,144,812 (GRCm38) |
nonsense |
probably null |
|
|
R4911:Nostrin
|
UTSW |
2 |
69,161,142 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R4987:Nostrin
|
UTSW |
2 |
69,156,431 (GRCm38) |
missense |
probably benign |
|
|
R5054:Nostrin
|
UTSW |
2 |
69,175,713 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5177:Nostrin
|
UTSW |
2 |
69,175,754 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6561:Nostrin
|
UTSW |
2 |
69,180,857 (GRCm38) |
missense |
probably benign |
|
|
R6785:Nostrin
|
UTSW |
2 |
69,183,927 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6789:Nostrin
|
UTSW |
2 |
69,175,512 (GRCm38) |
missense |
probably benign |
|
|
R7453:Nostrin
|
UTSW |
2 |
69,183,896 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7465:Nostrin
|
UTSW |
2 |
69,185,507 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R7570:Nostrin
|
UTSW |
2 |
69,175,806 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7761:Nostrin
|
UTSW |
2 |
69,161,122 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R7802:Nostrin
|
UTSW |
2 |
69,189,012 (GRCm38) |
missense |
probably benign |
0.18 |
|
R8115:Nostrin
|
UTSW |
2 |
69,180,920 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8160:Nostrin
|
UTSW |
2 |
69,179,466 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8844:Nostrin
|
UTSW |
2 |
69,175,716 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R9046:Nostrin
|
UTSW |
2 |
69,144,779 (GRCm38) |
missense |
probably benign |
|
|
X0021:Nostrin
|
UTSW |
2 |
69,144,792 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATCCTTGCCCTGGGAATCC -3'
(R):5'- AGTTTCTTCCATTAGAGCCTGGATATC -3'
Sequencing Primer
(F):5'- GGAATCCCCCTGTACTGCAC -3'
(R):5'- GAGCCTGGATATCTTTTTCAACATC -3'
|
| Posted On |
2016-03-01 |
Incidental Mutation