Incidental Mutation 'R9607:Nrp1'
| ID |
723943 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9607 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129152262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 157
(V157A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026917
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026917]
|
| AlphaFold |
P97333 |
| PDB Structure |
Mouse Neuropilin-1, extracellular domains 1-4 (a1a2b1b2) [X-RAY DIFFRACTION]
Complex of mouse Plexin A2 - Semaphorin 3A - Neuropilin-1 [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026917
AA Change: V157A
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: V157A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
CUB
|
27 |
141 |
1.44e-43 |
SMART |
|
CUB
|
147 |
265 |
9.19e-42 |
SMART |
|
FA58C
|
274 |
424 |
5.21e-44 |
SMART |
|
FA58C
|
430 |
583 |
4.15e-20 |
SMART |
|
low complexity region
|
587 |
599 |
N/A |
INTRINSIC |
|
MAM
|
645 |
811 |
4.94e-69 |
SMART |
|
Pfam:DUF3481
|
837 |
920 |
3.5e-31 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of two neuropilins, which contain specific protein domains which allow them to participate in several different types of signaling pathways that control cell migration. Neuropilins contain a large N-terminal extracellular domain, made up of complement-binding, coagulation factor V/VIII, and meprin domains. These proteins also contains a short membrane-spanning domain and a small cytoplasmic domain. Neuropilins bind many ligands and various types of co-receptors; they affect cell survival, migration, and attraction. Some of the ligands and co-receptors bound by neuropilins are vascular endothelial growth factor (VEGF) and semaphorin family members. Several alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Homozygous null mice show embryonic death, impaired neuronal migration and axon guidance, and vascular defects including a disorganized yolk sac vascular plexus, and malformed brachial arch arteries and great vessels. Mice lacking the cytoplasmic domain show altered retinal arteriovenous patterning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,914,068 (GRCm39) |
|
probably null |
Het |
| Atp8a1 |
T |
C |
5: 67,817,250 (GRCm39) |
Y927C |
|
Het |
| Bckdhb |
A |
G |
9: 83,871,344 (GRCm39) |
I208V |
probably benign |
Het |
| Cacna1g |
T |
C |
11: 94,356,714 (GRCm39) |
I141V |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,915,229 (GRCm39) |
S915P |
|
Het |
| Celsr3 |
G |
A |
9: 108,717,701 (GRCm39) |
|
probably null |
Het |
| Cep295 |
A |
T |
9: 15,234,009 (GRCm39) |
D2262E |
probably damaging |
Het |
| Chil3 |
T |
C |
3: 106,067,685 (GRCm39) |
K160R |
probably null |
Het |
| Cmtr1 |
G |
T |
17: 29,893,196 (GRCm39) |
A72S |
probably benign |
Het |
| Cpa5 |
T |
C |
6: 30,626,338 (GRCm39) |
F233S |
probably damaging |
Het |
| Creb3l3 |
G |
A |
10: 80,920,735 (GRCm39) |
R432W |
probably damaging |
Het |
| Csdc2 |
A |
G |
15: 81,831,088 (GRCm39) |
D45G |
possibly damaging |
Het |
| Csmd3 |
G |
T |
15: 47,618,811 (GRCm39) |
T1859K |
probably damaging |
Het |
| Cxxc1 |
T |
C |
18: 74,353,479 (GRCm39) |
|
probably null |
Het |
| Dcc |
A |
G |
18: 71,721,072 (GRCm39) |
S430P |
probably damaging |
Het |
| Dera |
T |
G |
6: 137,833,732 (GRCm39) |
S270A |
unknown |
Het |
| Dnaaf1 |
A |
G |
8: 120,309,350 (GRCm39) |
E146G |
possibly damaging |
Het |
| Dsg4 |
A |
T |
18: 20,586,047 (GRCm39) |
T246S |
probably benign |
Het |
| Eif4g3 |
A |
G |
4: 137,893,045 (GRCm39) |
E766G |
probably benign |
Het |
| Ep400 |
A |
C |
5: 110,831,805 (GRCm39) |
C2146G |
unknown |
Het |
| Epas1 |
A |
T |
17: 87,134,038 (GRCm39) |
T516S |
probably benign |
Het |
| Espn |
A |
G |
4: 152,219,939 (GRCm39) |
S395P |
probably benign |
Het |
| Fam124b |
T |
A |
1: 80,190,813 (GRCm39) |
Q190L |
probably damaging |
Het |
| Filip1 |
T |
A |
9: 79,726,402 (GRCm39) |
D739V |
probably damaging |
Het |
| Flg2 |
A |
G |
3: 93,108,719 (GRCm39) |
Y249C |
probably damaging |
Het |
| Gon4l |
T |
A |
3: 88,765,751 (GRCm39) |
S391T |
probably damaging |
Het |
| Hoxa5 |
G |
T |
6: 52,181,196 (GRCm39) |
Y45* |
probably null |
Het |
| Ift172 |
A |
G |
5: 31,410,913 (GRCm39) |
F1715S |
|
Het |
| Klhdc9 |
T |
A |
1: 171,187,124 (GRCm39) |
H262L |
probably damaging |
Het |
| Krt16 |
C |
A |
11: 100,138,453 (GRCm39) |
D232Y |
probably damaging |
Het |
| Lrrd1 |
A |
G |
5: 3,901,561 (GRCm39) |
E622G |
probably damaging |
Het |
| Mars1 |
A |
T |
10: 127,144,493 (GRCm39) |
C182* |
probably null |
Het |
| Mcm5 |
C |
T |
8: 75,844,168 (GRCm39) |
S313F |
probably benign |
Het |
| Msrb2 |
C |
A |
2: 19,399,130 (GRCm39) |
N164K |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,869,488 (GRCm39) |
E1049A |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,305,190 (GRCm39) |
C604S |
|
Het |
| Mup17 |
T |
C |
4: 61,511,903 (GRCm39) |
I124V |
probably benign |
Het |
| Myo18b |
T |
C |
5: 113,022,544 (GRCm39) |
M283V |
unknown |
Het |
| Ndn |
C |
T |
7: 61,998,337 (GRCm39) |
P61L |
possibly damaging |
Het |
| Nepro |
T |
C |
16: 44,551,832 (GRCm39) |
L230P |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,883,513 (GRCm39) |
N591D |
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,326,066 (GRCm39) |
S1170P |
possibly damaging |
Het |
| Nphs1 |
A |
T |
7: 30,163,012 (GRCm39) |
T430S |
probably damaging |
Het |
| Nup188 |
T |
A |
2: 30,197,724 (GRCm39) |
D259E |
probably benign |
Het |
| Or52n5 |
T |
C |
7: 104,588,207 (GRCm39) |
M158T |
probably benign |
Het |
| Or5b109 |
A |
T |
19: 13,211,953 (GRCm39) |
N113I |
|
Het |
| Or8b1c |
A |
G |
9: 38,384,913 (GRCm39) |
Y290C |
probably damaging |
Het |
| Or9s18 |
G |
T |
13: 65,300,885 (GRCm39) |
M282I |
probably benign |
Het |
| Pcdha8 |
T |
A |
18: 37,126,217 (GRCm39) |
L233Q |
probably damaging |
Het |
| Pcdhga12 |
T |
A |
18: 37,901,389 (GRCm39) |
F740L |
probably damaging |
Het |
| Pglyrp4 |
G |
A |
3: 90,638,151 (GRCm39) |
G155D |
probably damaging |
Het |
| Piezo2 |
G |
A |
18: 63,519,347 (GRCm39) |
|
probably benign |
Het |
| Pirb |
G |
A |
7: 3,720,617 (GRCm39) |
R294C |
possibly damaging |
Het |
| Ppil1 |
A |
T |
17: 29,470,481 (GRCm39) |
*167K |
probably null |
Het |
| Prdm10 |
G |
T |
9: 31,260,486 (GRCm39) |
D647Y |
probably damaging |
Het |
| Prkn |
A |
G |
17: 12,222,963 (GRCm39) |
Y371C |
probably damaging |
Het |
| Prrc2b |
T |
A |
2: 32,098,794 (GRCm39) |
I702N |
probably damaging |
Het |
| Rnf26rt |
A |
T |
6: 76,473,923 (GRCm39) |
L231* |
probably null |
Het |
| Rtp4 |
T |
A |
16: 23,339,226 (GRCm39) |
|
probably null |
Het |
| Sema6c |
A |
G |
3: 95,076,545 (GRCm39) |
H277R |
probably benign |
Het |
| Slc14a1 |
C |
A |
18: 78,152,807 (GRCm39) |
A367S |
probably damaging |
Het |
| Slc41a2 |
A |
G |
10: 83,119,631 (GRCm39) |
L377P |
probably damaging |
Het |
| Svil |
T |
C |
18: 5,058,126 (GRCm39) |
Y630H |
possibly damaging |
Het |
| Tbata |
A |
G |
10: 61,011,626 (GRCm39) |
H54R |
probably benign |
Het |
| Tnfaip2 |
C |
A |
12: 111,412,069 (GRCm39) |
Q157K |
possibly damaging |
Het |
| Trappc14 |
T |
C |
5: 138,259,862 (GRCm39) |
D398G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Vmn2r74 |
T |
A |
7: 85,610,619 (GRCm39) |
R24S |
probably benign |
Het |
| Vmn2r90 |
G |
A |
17: 17,953,638 (GRCm39) |
V601M |
possibly damaging |
Het |
| Vmn2r-ps117 |
A |
G |
17: 19,043,940 (GRCm39) |
T339A |
probably benign |
Het |
| Xirp2 |
C |
T |
2: 67,341,106 (GRCm39) |
H1116Y |
possibly damaging |
Het |
| Xrcc1 |
A |
G |
7: 24,265,690 (GRCm39) |
D156G |
probably benign |
Het |
|
| Other mutations in Nrp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00911:Nrp1
|
APN |
8 |
129,202,688 (GRCm39) |
missense |
probably benign |
|
|
IGL01412:Nrp1
|
APN |
8 |
129,145,188 (GRCm39) |
splice site |
probably benign |
|
|
IGL01586:Nrp1
|
APN |
8 |
129,158,513 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02307:Nrp1
|
APN |
8 |
129,229,201 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02500:Nrp1
|
APN |
8 |
129,152,280 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02547:Nrp1
|
APN |
8 |
129,219,512 (GRCm39) |
missense |
probably benign |
|
|
R0046:Nrp1
|
UTSW |
8 |
129,227,089 (GRCm39) |
splice site |
probably benign |
|
|
R0281:Nrp1
|
UTSW |
8 |
129,187,164 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0403:Nrp1
|
UTSW |
8 |
129,184,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0610:Nrp1
|
UTSW |
8 |
129,229,099 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1055:Nrp1
|
UTSW |
8 |
129,195,079 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R1229:Nrp1
|
UTSW |
8 |
129,145,197 (GRCm39) |
nonsense |
probably null |
|
|
R1263:Nrp1
|
UTSW |
8 |
129,194,870 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1340:Nrp1
|
UTSW |
8 |
129,160,836 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1397:Nrp1
|
UTSW |
8 |
129,145,197 (GRCm39) |
nonsense |
probably null |
|
|
R1462:Nrp1
|
UTSW |
8 |
129,229,279 (GRCm39) |
missense |
probably benign |
|
|
R1462:Nrp1
|
UTSW |
8 |
129,229,279 (GRCm39) |
missense |
probably benign |
|
|
R1531:Nrp1
|
UTSW |
8 |
129,152,450 (GRCm39) |
missense |
probably null |
0.19 |
|
R1587:Nrp1
|
UTSW |
8 |
129,202,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Nrp1
|
UTSW |
8 |
129,152,366 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1733:Nrp1
|
UTSW |
8 |
129,194,974 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1785:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1786:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2047:Nrp1
|
UTSW |
8 |
129,224,577 (GRCm39) |
splice site |
probably benign |
|
|
R2130:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2132:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2133:Nrp1
|
UTSW |
8 |
129,224,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2163:Nrp1
|
UTSW |
8 |
129,224,352 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2338:Nrp1
|
UTSW |
8 |
129,224,385 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2407:Nrp1
|
UTSW |
8 |
129,158,426 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3405:Nrp1
|
UTSW |
8 |
129,224,569 (GRCm39) |
nonsense |
probably null |
|
|
R3748:Nrp1
|
UTSW |
8 |
129,184,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4347:Nrp1
|
UTSW |
8 |
129,207,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4379:Nrp1
|
UTSW |
8 |
129,194,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4646:Nrp1
|
UTSW |
8 |
129,184,425 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4688:Nrp1
|
UTSW |
8 |
129,229,047 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4916:Nrp1
|
UTSW |
8 |
129,229,285 (GRCm39) |
nonsense |
probably null |
|
|
R5077:Nrp1
|
UTSW |
8 |
129,227,154 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5301:Nrp1
|
UTSW |
8 |
129,160,678 (GRCm39) |
splice site |
probably null |
|
|
R5509:Nrp1
|
UTSW |
8 |
129,152,396 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R5745:Nrp1
|
UTSW |
8 |
129,194,929 (GRCm39) |
missense |
probably benign |
0.22 |
|
R5873:Nrp1
|
UTSW |
8 |
129,194,858 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5987:Nrp1
|
UTSW |
8 |
129,202,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6060:Nrp1
|
UTSW |
8 |
129,224,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6757:Nrp1
|
UTSW |
8 |
129,152,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6889:Nrp1
|
UTSW |
8 |
129,219,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7025:Nrp1
|
UTSW |
8 |
129,207,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7065:Nrp1
|
UTSW |
8 |
129,187,193 (GRCm39) |
missense |
probably benign |
|
|
R7290:Nrp1
|
UTSW |
8 |
129,202,777 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7369:Nrp1
|
UTSW |
8 |
129,158,396 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7553:Nrp1
|
UTSW |
8 |
129,158,468 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7650:Nrp1
|
UTSW |
8 |
129,224,495 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R8043:Nrp1
|
UTSW |
8 |
129,158,504 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8088:Nrp1
|
UTSW |
8 |
129,194,997 (GRCm39) |
nonsense |
probably null |
|
|
R8193:Nrp1
|
UTSW |
8 |
129,187,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8206:Nrp1
|
UTSW |
8 |
129,184,438 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8245:Nrp1
|
UTSW |
8 |
129,214,434 (GRCm39) |
missense |
probably benign |
|
|
R8684:Nrp1
|
UTSW |
8 |
129,085,885 (GRCm39) |
start gained |
probably benign |
|
|
R8734:Nrp1
|
UTSW |
8 |
129,207,420 (GRCm39) |
missense |
probably benign |
0.23 |
|
R8875:Nrp1
|
UTSW |
8 |
129,207,472 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9054:Nrp1
|
UTSW |
8 |
129,214,389 (GRCm39) |
missense |
probably benign |
|
|
R9253:Nrp1
|
UTSW |
8 |
129,229,144 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R9301:Nrp1
|
UTSW |
8 |
129,089,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9437:Nrp1
|
UTSW |
8 |
129,187,108 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9606:Nrp1
|
UTSW |
8 |
129,229,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9691:Nrp1
|
UTSW |
8 |
129,202,650 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Nrp1
|
UTSW |
8 |
129,187,126 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Z1186:Nrp1
|
UTSW |
8 |
129,224,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1189:Nrp1
|
UTSW |
8 |
129,224,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1192:Nrp1
|
UTSW |
8 |
129,224,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCGACTTTACCATGTAGG -3'
(R):5'- CTGCTCTTAGATGTTACCTTCAGGG -3'
Sequencing Primer
(F):5'- GTTAAGCAGTGACTGGAG -3'
(R):5'- GATGTTACCTTCAGGGAATCCATC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation