Incidental Mutation 'R9253:Nrp1'
| ID |
701661 |
| 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 # |
R9253 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 129229144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 874
(V874A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000026917
AA Change: V874A
PolyPhen 2
Score 0.471 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: V874A
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (63/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
A |
G |
18: 59,103,013 (GRCm39) |
N685D |
probably damaging |
Het |
| Adh4 |
A |
T |
3: 138,129,860 (GRCm39) |
I229F |
probably damaging |
Het |
| Ajm1 |
T |
C |
2: 25,467,172 (GRCm39) |
H913R |
possibly damaging |
Het |
| Aldh3b1 |
T |
A |
19: 3,965,315 (GRCm39) |
S399C |
probably damaging |
Het |
| Arhgef28 |
C |
T |
13: 98,124,779 (GRCm39) |
G501D |
probably benign |
Het |
| Asb1 |
C |
A |
1: 91,468,551 (GRCm39) |
T6N |
unknown |
Het |
| Asb18 |
C |
T |
1: 89,882,185 (GRCm39) |
V382I |
probably benign |
Het |
| AU041133 |
T |
C |
10: 81,987,220 (GRCm39) |
I291T |
probably benign |
Het |
| B4galnt2 |
C |
T |
11: 95,759,176 (GRCm39) |
|
silent |
Het |
| Bcl7c |
T |
C |
7: 127,306,403 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,711,083 (GRCm39) |
N375S |
possibly damaging |
Het |
| C6 |
A |
G |
15: 4,764,679 (GRCm39) |
Q125R |
probably benign |
Het |
| Card14 |
T |
C |
11: 119,212,759 (GRCm39) |
S108P |
probably benign |
Het |
| Clec4a2 |
C |
A |
6: 123,100,608 (GRCm39) |
T21N |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,978,112 (GRCm39) |
L256F |
probably benign |
Het |
| Cobll1 |
G |
A |
2: 64,981,503 (GRCm39) |
T29I |
probably benign |
Het |
| Coq4 |
A |
T |
2: 29,685,433 (GRCm39) |
D149V |
probably damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,769,698 (GRCm39) |
L91S |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,397 (GRCm39) |
D559V |
probably damaging |
Het |
| Gm4779 |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
TGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAGAGGCAG |
X: 100,836,917 (GRCm39) |
|
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,676,407 (GRCm39) |
V12E |
probably damaging |
Het |
| H2-Ab1 |
T |
C |
17: 34,486,378 (GRCm39) |
S146P |
probably damaging |
Het |
| Heatr5b |
A |
G |
17: 79,135,423 (GRCm39) |
V236A |
probably benign |
Het |
| Hjv |
T |
C |
3: 96,435,710 (GRCm39) |
S323P |
probably benign |
Het |
| Hmgcr |
C |
T |
13: 96,796,645 (GRCm39) |
C215Y |
probably damaging |
Het |
| L3mbtl1 |
G |
T |
2: 162,789,632 (GRCm39) |
A57S |
probably benign |
Het |
| Lilrb4b |
G |
A |
10: 51,357,863 (GRCm39) |
V186I |
probably damaging |
Het |
| Map1a |
T |
C |
2: 121,132,823 (GRCm39) |
V1213A |
probably benign |
Het |
| Marf1 |
T |
C |
16: 13,935,172 (GRCm39) |
E1532G |
probably damaging |
Het |
| Mcm6 |
T |
C |
1: 128,279,264 (GRCm39) |
Y174C |
probably damaging |
Het |
| Miga2 |
T |
A |
2: 30,261,239 (GRCm39) |
V178E |
probably benign |
Het |
| Myh11 |
T |
A |
16: 14,074,359 (GRCm39) |
I174F |
|
Het |
| Ndufv1 |
G |
T |
19: 4,059,412 (GRCm39) |
A211E |
probably damaging |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nlgn3 |
T |
C |
X: 100,352,390 (GRCm39) |
V179A |
probably damaging |
Het |
| Nsf |
C |
T |
11: 103,804,142 (GRCm39) |
G197S |
probably null |
Het |
| Or10al2 |
A |
T |
17: 37,983,637 (GRCm39) |
H241L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,822 (GRCm39) |
M246T |
probably damaging |
Het |
| Pacs2 |
A |
G |
12: 113,014,137 (GRCm39) |
D196G |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,351,012 (GRCm39) |
D118G |
probably benign |
Het |
| Pcdhb11 |
A |
T |
18: 37,554,529 (GRCm39) |
|
probably benign |
Het |
| Pgk2 |
C |
T |
17: 40,519,233 (GRCm39) |
G65D |
probably damaging |
Het |
| Plcd3 |
T |
C |
11: 102,970,460 (GRCm39) |
D193G |
probably benign |
Het |
| Plcl2 |
T |
G |
17: 50,915,127 (GRCm39) |
M712R |
probably damaging |
Het |
| Plxna1 |
G |
A |
6: 89,334,522 (GRCm39) |
Q36* |
probably null |
Het |
| Plxnb2 |
A |
G |
15: 89,052,015 (GRCm39) |
V68A |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,493,224 (GRCm39) |
I1069V |
probably benign |
Het |
| Rbfox1 |
A |
G |
16: 7,111,973 (GRCm39) |
T200A |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,349,621 (GRCm39) |
V3D |
probably damaging |
Het |
| Serpinb6d |
T |
C |
13: 33,855,205 (GRCm39) |
M293T |
probably damaging |
Het |
| Slc4a8 |
A |
G |
15: 100,680,913 (GRCm39) |
R72G |
probably benign |
Het |
| Smarca5 |
A |
C |
8: 81,446,344 (GRCm39) |
L452W |
probably damaging |
Het |
| Srcin1 |
T |
C |
11: 97,416,377 (GRCm39) |
K952E |
probably damaging |
Het |
| Synpo2l |
G |
T |
14: 20,716,738 (GRCm39) |
Q79K |
possibly damaging |
Het |
| Tmem174 |
T |
C |
13: 98,773,803 (GRCm39) |
E9G |
possibly damaging |
Het |
| Tmem270 |
T |
C |
5: 134,930,644 (GRCm39) |
T206A |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,562,951 (GRCm39) |
T28668S |
possibly damaging |
Het |
| Vmn1r118 |
A |
T |
7: 20,645,817 (GRCm39) |
S152R |
possibly damaging |
Het |
| Vmn2r25 |
T |
A |
6: 123,816,960 (GRCm39) |
Q207L |
probably damaging |
Het |
| Vmn2r81 |
T |
A |
10: 79,129,582 (GRCm39) |
S824R |
probably damaging |
Het |
| Vps54 |
G |
A |
11: 21,258,771 (GRCm39) |
V733I |
probably benign |
Het |
| Zfp518b |
G |
T |
5: 38,829,601 (GRCm39) |
D801E |
probably benign |
Het |
| Zgrf1 |
C |
A |
3: 127,392,428 (GRCm39) |
P1316Q |
probably damaging |
Het |
| Zzef1 |
C |
A |
11: 72,739,463 (GRCm39) |
|
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 |
|
|
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 |
|
R9607:Nrp1
|
UTSW |
8 |
129,152,262 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CCTCTCGGTGTTCATGAGTC -3'
(R):5'- GAGTAACAGAGTCCCCATGC -3'
Sequencing Primer
(F):5'- CAATATTGTCTCCTTCCTTAGGGAG -3'
(R):5'- GAGTCCCCATGCCTCCAC -3'
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| Posted On |
2022-03-25 |
Incidental Mutation