Incidental Mutation 'R1340:Nrp1'
ID |
157005 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrp1
|
Ensembl Gene |
ENSMUSG00000025810 |
Gene Name |
neuropilin 1 |
Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
MMRRC Submission |
039405-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1340 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129160836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 321
(S321P)
|
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 damaging
Transcript: ENSMUST00000026917
AA Change: S321P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026917 Gene: ENSMUSG00000025810 AA Change: S321P
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212933
|
Meta Mutation Damage Score |
0.6748 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 89.9%
|
Validation Efficiency |
100% (52/52) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
T |
6: 142,628,581 (GRCm39) |
|
probably benign |
Het |
Acat3 |
C |
T |
17: 13,148,564 (GRCm39) |
|
probably benign |
Het |
Actn1 |
T |
C |
12: 80,219,918 (GRCm39) |
|
probably null |
Het |
Adam8 |
G |
A |
7: 139,571,290 (GRCm39) |
S38F |
probably damaging |
Het |
Aldh9a1 |
T |
G |
1: 167,184,913 (GRCm39) |
I275S |
probably benign |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Alms1 |
G |
A |
6: 85,644,939 (GRCm39) |
|
probably null |
Het |
Bltp3a |
A |
G |
17: 28,113,695 (GRCm39) |
N1289S |
probably benign |
Het |
Cacna1d |
A |
G |
14: 29,794,024 (GRCm39) |
V1539A |
probably damaging |
Het |
Cacna1e |
A |
G |
1: 154,348,403 (GRCm39) |
L724P |
probably damaging |
Het |
Ccdc110 |
A |
G |
8: 46,395,218 (GRCm39) |
T370A |
probably benign |
Het |
Ccdc9 |
G |
A |
7: 16,009,315 (GRCm39) |
|
probably benign |
Het |
Cep120 |
A |
T |
18: 53,857,463 (GRCm39) |
V334E |
probably damaging |
Het |
Ces3a |
C |
T |
8: 105,784,545 (GRCm39) |
P462L |
probably damaging |
Het |
Cgref1 |
A |
G |
5: 31,102,690 (GRCm39) |
|
probably benign |
Het |
Cndp1 |
G |
A |
18: 84,652,777 (GRCm39) |
|
probably benign |
Het |
Csrnp3 |
T |
A |
2: 65,832,740 (GRCm39) |
F81Y |
probably damaging |
Het |
Ddr2 |
T |
C |
1: 169,825,653 (GRCm39) |
T316A |
probably benign |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Epb41l5 |
A |
T |
1: 119,476,861 (GRCm39) |
*740R |
probably null |
Het |
Gfpt2 |
A |
G |
11: 49,723,688 (GRCm39) |
K559E |
probably damaging |
Het |
Gm2381 |
A |
G |
7: 42,469,828 (GRCm39) |
Y99H |
possibly damaging |
Het |
Gsdma2 |
T |
C |
11: 98,548,475 (GRCm39) |
V242A |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 40,592,806 (GRCm39) |
N3771S |
probably benign |
Het |
Lrriq4 |
A |
C |
3: 30,704,472 (GRCm39) |
T167P |
possibly damaging |
Het |
Mtarc2 |
T |
C |
1: 184,554,744 (GRCm39) |
T254A |
probably benign |
Het |
Naip2 |
G |
A |
13: 100,325,630 (GRCm39) |
L93F |
possibly damaging |
Het |
Nefh |
G |
GNNNNNNNNNNNNNNNNNN |
11: 4,891,002 (GRCm39) |
|
probably benign |
Het |
Nt5c1b |
T |
C |
12: 10,427,276 (GRCm39) |
V342A |
probably damaging |
Het |
Nt5c3 |
A |
G |
6: 56,860,018 (GRCm39) |
M273T |
probably benign |
Het |
Or12j2 |
A |
G |
7: 139,916,038 (GRCm39) |
T88A |
probably benign |
Het |
Or1l4b |
T |
G |
2: 37,036,769 (GRCm39) |
L182V |
probably benign |
Het |
Or6b1 |
G |
A |
6: 42,814,943 (GRCm39) |
V43M |
probably benign |
Het |
Polr3f |
A |
G |
2: 144,380,548 (GRCm39) |
H297R |
probably benign |
Het |
Ptgs2 |
T |
G |
1: 149,981,228 (GRCm39) |
F504V |
probably damaging |
Het |
Ptpro |
C |
T |
6: 137,418,079 (GRCm39) |
P142L |
possibly damaging |
Het |
Rps17 |
A |
G |
7: 80,993,481 (GRCm39) |
|
probably null |
Het |
Ryr1 |
A |
G |
7: 28,815,437 (GRCm39) |
S132P |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,441,958 (GRCm39) |
S1335P |
probably damaging |
Het |
Senp6 |
T |
C |
9: 80,029,305 (GRCm39) |
V383A |
possibly damaging |
Het |
Skint7 |
T |
C |
4: 111,837,416 (GRCm39) |
F65L |
probably damaging |
Het |
Slc35f1 |
T |
C |
10: 52,965,550 (GRCm39) |
Y322H |
probably damaging |
Het |
Slc38a4 |
C |
A |
15: 96,908,153 (GRCm39) |
|
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Sox15 |
T |
A |
11: 69,546,373 (GRCm39) |
S59T |
probably damaging |
Het |
Srcap |
T |
A |
7: 127,159,910 (GRCm39) |
|
probably benign |
Het |
Txlnb |
A |
T |
10: 17,718,488 (GRCm39) |
I440F |
probably damaging |
Het |
Vmn1r178 |
A |
G |
7: 23,593,281 (GRCm39) |
S37G |
probably benign |
Het |
Vmn2r75 |
T |
C |
7: 85,797,798 (GRCm39) |
T672A |
probably damaging |
Het |
Wscd1 |
T |
C |
11: 71,659,586 (GRCm39) |
V222A |
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 |
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 |
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'- TCTCCCCAGGCCATGAGTGAAATC -3'
(R):5'- ACCTGAGTCACCTCTGTATGTGAGTG -3'
Sequencing Primer
(F):5'- gccatgAGTGAAATCTATAGTTTCCC -3'
(R):5'- AGTCACCTCTGTATGTGAGTGTAATC -3'
|
Posted On |
2014-02-11 |