Incidental Mutation 'R8206:Nrp1'
ID |
635919 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrp1
|
Ensembl Gene |
ENSMUSG00000025810 |
Gene Name |
neuropilin 1 |
Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
MMRRC Submission |
067629-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8206 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 129184438 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 361
(D361G)
|
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: D361G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000026917 Gene: ENSMUSG00000025810 AA Change: D361G
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (50/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ano4 |
A |
G |
10: 88,860,958 (GRCm39) |
Y342H |
probably damaging |
Het |
Aqp4 |
T |
A |
18: 15,526,716 (GRCm39) |
D255V |
possibly damaging |
Het |
Arhgap26 |
C |
A |
18: 39,439,803 (GRCm39) |
S247* |
probably null |
Het |
Arid4a |
A |
G |
12: 71,133,361 (GRCm39) |
D1154G |
probably damaging |
Het |
Atpaf2 |
A |
G |
11: 60,295,304 (GRCm39) |
I182T |
probably damaging |
Het |
Cacna1i |
C |
A |
15: 80,274,016 (GRCm39) |
|
probably null |
Het |
Ccdc38 |
A |
G |
10: 93,399,146 (GRCm39) |
S205G |
probably damaging |
Het |
Cep63 |
A |
G |
9: 102,498,470 (GRCm39) |
|
probably benign |
Het |
Cripto |
G |
A |
9: 110,773,352 (GRCm39) |
|
probably benign |
Het |
Cyp24a1 |
T |
C |
2: 170,333,589 (GRCm39) |
T255A |
possibly damaging |
Het |
Dlg5 |
A |
G |
14: 24,210,336 (GRCm39) |
S787P |
possibly damaging |
Het |
Dnah6 |
A |
T |
6: 73,014,549 (GRCm39) |
C3679* |
probably null |
Het |
Dpy19l3 |
T |
C |
7: 35,429,155 (GRCm39) |
Y95C |
probably damaging |
Het |
Erc2 |
G |
A |
14: 28,024,972 (GRCm39) |
|
probably null |
Het |
Ezh2 |
A |
T |
6: 47,509,834 (GRCm39) |
|
probably null |
Het |
Fgfr1 |
A |
G |
8: 26,060,258 (GRCm39) |
T463A |
probably damaging |
Het |
Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
Fsip2 |
T |
C |
2: 82,820,808 (GRCm39) |
S5514P |
possibly damaging |
Het |
Glrb |
A |
G |
3: 80,758,373 (GRCm39) |
Y347H |
probably damaging |
Het |
Gm14325 |
C |
A |
2: 177,474,767 (GRCm39) |
C105F |
probably damaging |
Het |
Hgsnat |
T |
C |
8: 26,444,665 (GRCm39) |
T428A |
probably damaging |
Het |
Ighv1-76 |
T |
C |
12: 115,811,934 (GRCm39) |
M1V |
probably null |
Het |
Inppl1 |
A |
G |
7: 101,472,783 (GRCm39) |
I1207T |
possibly damaging |
Het |
Kmt2c |
T |
A |
5: 25,519,537 (GRCm39) |
Q2191L |
probably damaging |
Het |
Krt79 |
T |
A |
15: 101,848,705 (GRCm39) |
|
probably null |
Het |
Mast4 |
G |
A |
13: 102,872,247 (GRCm39) |
L2374F |
probably damaging |
Het |
Mgam |
A |
G |
6: 40,657,169 (GRCm39) |
N951S |
probably benign |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,431,344 (GRCm39) |
C1164* |
probably null |
Het |
Nfatc2ip |
G |
T |
7: 125,989,906 (GRCm39) |
D189E |
probably damaging |
Het |
Nrp2 |
T |
C |
1: 62,786,374 (GRCm39) |
I293T |
probably damaging |
Het |
Pate5 |
A |
T |
9: 35,750,719 (GRCm39) |
F34L |
possibly damaging |
Het |
Pde3a |
T |
C |
6: 141,433,611 (GRCm39) |
V831A |
probably damaging |
Het |
Pirb |
A |
G |
7: 3,715,905 (GRCm39) |
|
probably null |
Het |
Plch1 |
G |
T |
3: 63,610,047 (GRCm39) |
|
probably null |
Het |
Plekhh2 |
A |
G |
17: 84,898,277 (GRCm39) |
T973A |
possibly damaging |
Het |
Ppp1r35 |
T |
A |
5: 137,778,296 (GRCm39) |
I97K |
unknown |
Het |
Ppp1r3c |
C |
T |
19: 36,710,846 (GRCm39) |
G308E |
probably benign |
Het |
Prss12 |
G |
A |
3: 123,258,611 (GRCm39) |
|
probably null |
Het |
Rad51b |
A |
G |
12: 79,361,715 (GRCm39) |
D142G |
probably damaging |
Het |
Slc13a3 |
C |
T |
2: 165,248,745 (GRCm39) |
G553D |
probably damaging |
Het |
Spata31d1d |
A |
C |
13: 59,879,344 (GRCm39) |
V64G |
probably benign |
Het |
Srp68 |
G |
A |
11: 116,164,809 (GRCm39) |
R42C |
probably damaging |
Het |
Syne2 |
T |
C |
12: 76,062,365 (GRCm39) |
V4229A |
probably benign |
Het |
Tas2r144 |
G |
A |
6: 42,192,325 (GRCm39) |
V22M |
probably damaging |
Het |
Tcf7l1 |
A |
G |
6: 72,604,395 (GRCm39) |
L583P |
probably damaging |
Het |
Tdrd3 |
A |
G |
14: 87,749,214 (GRCm39) |
D708G |
probably benign |
Het |
Tns4 |
A |
T |
11: 98,976,627 (GRCm39) |
L98Q |
probably damaging |
Het |
Zfp677 |
T |
A |
17: 21,612,717 (GRCm39) |
|
probably null |
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 |
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'- GCAGGAAAAGCTGTTTAGGTC -3'
(R):5'- CGGATCTGGGAACATGAGACTC -3'
Sequencing Primer
(F):5'- AGGTCACAGCTGTGCTTG -3'
(R):5'- CTGGGAACATGAGACTCTTTAAACC -3'
|
Posted On |
2020-07-13 |