Incidental Mutation 'R1719:Nrp1'
ID |
191296 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrp1
|
Ensembl Gene |
ENSMUSG00000025810 |
Gene Name |
neuropilin 1 |
Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1719 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 129152366 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 192
(F192L)
|
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: F192L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000026917 Gene: ENSMUSG00000025810 AA Change: F192L
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: ENSMUST00000212746
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212933
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.3%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1cf |
A |
T |
19: 31,904,526 (GRCm39) |
K263M |
probably damaging |
Het |
Adam26a |
G |
A |
8: 44,023,073 (GRCm39) |
T139M |
possibly damaging |
Het |
Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
Akap9 |
C |
T |
5: 4,007,645 (GRCm39) |
Q238* |
probably null |
Het |
Ankrd6 |
A |
T |
4: 32,828,774 (GRCm39) |
V85E |
probably damaging |
Het |
Ap2b1 |
C |
A |
11: 83,215,430 (GRCm39) |
P125T |
probably damaging |
Het |
Arhgef7 |
C |
A |
8: 11,858,713 (GRCm39) |
|
probably null |
Het |
Cblc |
A |
T |
7: 19,524,399 (GRCm39) |
D280E |
probably benign |
Het |
Cdk11b |
T |
C |
4: 155,732,854 (GRCm39) |
|
probably benign |
Het |
Cela2a |
G |
T |
4: 141,545,257 (GRCm39) |
F239L |
probably damaging |
Het |
Cfap57 |
A |
T |
4: 118,463,828 (GRCm39) |
C342S |
probably benign |
Het |
Clca4a |
C |
A |
3: 144,669,516 (GRCm39) |
W345L |
probably damaging |
Het |
Col6a5 |
T |
C |
9: 105,808,492 (GRCm39) |
D852G |
unknown |
Het |
Cyp4a32 |
T |
C |
4: 115,468,505 (GRCm39) |
V329A |
possibly damaging |
Het |
Dcaf8 |
C |
T |
1: 172,003,062 (GRCm39) |
P287S |
probably damaging |
Het |
Dmxl1 |
T |
A |
18: 50,067,704 (GRCm39) |
D2654E |
probably damaging |
Het |
Dpep1 |
A |
T |
8: 123,927,486 (GRCm39) |
I347F |
possibly damaging |
Het |
Dtnb |
T |
A |
12: 3,693,936 (GRCm39) |
Y56* |
probably null |
Het |
Duox1 |
T |
C |
2: 122,169,125 (GRCm39) |
Y1182H |
possibly damaging |
Het |
Dusp10 |
T |
A |
1: 183,769,422 (GRCm39) |
S129R |
probably benign |
Het |
Dync2i1 |
T |
C |
12: 116,219,532 (GRCm39) |
I137V |
probably benign |
Het |
Epcam |
G |
A |
17: 87,949,556 (GRCm39) |
R173Q |
probably damaging |
Het |
Ephb3 |
A |
G |
16: 21,039,400 (GRCm39) |
E384G |
probably damaging |
Het |
Exosc10 |
A |
T |
4: 148,652,960 (GRCm39) |
D525V |
probably damaging |
Het |
Fam186a |
T |
A |
15: 99,840,227 (GRCm39) |
T2006S |
possibly damaging |
Het |
Fbxw21 |
T |
A |
9: 108,977,242 (GRCm39) |
T156S |
possibly damaging |
Het |
Fcrl5 |
A |
G |
3: 87,364,704 (GRCm39) |
E568G |
probably damaging |
Het |
Fmn2 |
C |
T |
1: 174,436,024 (GRCm39) |
|
probably benign |
Het |
Fut9 |
A |
G |
4: 25,619,744 (GRCm39) |
F357L |
possibly damaging |
Het |
Garre1 |
A |
T |
7: 33,947,631 (GRCm39) |
M459K |
probably damaging |
Het |
Gas2l1 |
G |
A |
11: 5,014,266 (GRCm39) |
H65Y |
probably damaging |
Het |
Gjd2 |
A |
T |
2: 113,843,614 (GRCm39) |
M1K |
probably null |
Het |
Hdgfl3 |
T |
C |
7: 81,549,432 (GRCm39) |
Y149C |
probably damaging |
Het |
Hmcn2 |
T |
C |
2: 31,244,733 (GRCm39) |
V730A |
probably damaging |
Het |
Inpp4a |
A |
T |
1: 37,437,880 (GRCm39) |
S223C |
probably damaging |
Het |
Ip6k1 |
G |
A |
9: 107,918,195 (GRCm39) |
E77K |
possibly damaging |
Het |
Knl1 |
T |
A |
2: 118,902,219 (GRCm39) |
W1307R |
probably benign |
Het |
Kpna3 |
A |
G |
14: 61,624,926 (GRCm39) |
L139P |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,612,929 (GRCm39) |
|
probably null |
Het |
Lin54 |
G |
A |
5: 100,633,108 (GRCm39) |
P192L |
possibly damaging |
Het |
Lpo |
T |
A |
11: 87,700,018 (GRCm39) |
|
probably null |
Het |
Lrrc37 |
T |
A |
11: 103,507,897 (GRCm39) |
|
probably benign |
Het |
Lrrd1 |
T |
G |
5: 3,900,483 (GRCm39) |
|
probably null |
Het |
Nbas |
T |
A |
12: 13,610,978 (GRCm39) |
|
probably null |
Het |
Nemp1 |
G |
A |
10: 127,532,117 (GRCm39) |
G341D |
probably damaging |
Het |
Nufip2 |
T |
A |
11: 77,583,916 (GRCm39) |
V610E |
probably damaging |
Het |
Nup160 |
T |
G |
2: 90,530,780 (GRCm39) |
Y479* |
probably null |
Het |
Oas1d |
A |
T |
5: 121,058,025 (GRCm39) |
D323V |
possibly damaging |
Het |
Or10ak14 |
A |
G |
4: 118,610,797 (GRCm39) |
W315R |
possibly damaging |
Het |
Or14j1 |
A |
G |
17: 38,146,244 (GRCm39) |
D118G |
possibly damaging |
Het |
Or4c3d |
T |
C |
2: 89,882,128 (GRCm39) |
Y180C |
probably damaging |
Het |
Or52e4 |
C |
A |
7: 104,706,001 (GRCm39) |
H183N |
probably damaging |
Het |
Or5ac22 |
T |
A |
16: 59,135,069 (GRCm39) |
R234* |
probably null |
Het |
Or8b3 |
G |
A |
9: 38,314,550 (GRCm39) |
V127M |
possibly damaging |
Het |
Or8c9 |
A |
T |
9: 38,241,803 (GRCm39) |
T307S |
probably benign |
Het |
Pcm1 |
T |
A |
8: 41,766,396 (GRCm39) |
M1567K |
possibly damaging |
Het |
Pdxk |
A |
G |
10: 78,279,730 (GRCm39) |
V215A |
probably benign |
Het |
Phf12 |
T |
A |
11: 77,914,427 (GRCm39) |
L74Q |
probably damaging |
Het |
Plcg1 |
A |
G |
2: 160,595,663 (GRCm39) |
E537G |
probably null |
Het |
Plxna2 |
C |
T |
1: 194,326,678 (GRCm39) |
P204L |
possibly damaging |
Het |
Ppp3cb |
T |
G |
14: 20,574,131 (GRCm39) |
M236L |
probably benign |
Het |
Qrsl1 |
A |
T |
10: 43,772,026 (GRCm39) |
S55T |
probably damaging |
Het |
Rbm5 |
T |
C |
9: 107,621,112 (GRCm39) |
|
probably null |
Het |
Sipa1l2 |
A |
G |
8: 126,171,274 (GRCm39) |
S1403P |
probably damaging |
Het |
Sis |
C |
T |
3: 72,872,937 (GRCm39) |
C67Y |
probably damaging |
Het |
Specc1 |
A |
G |
11: 62,019,218 (GRCm39) |
I686V |
possibly damaging |
Het |
Speg |
G |
A |
1: 75,394,507 (GRCm39) |
E1739K |
probably benign |
Het |
Sprtn |
C |
A |
8: 125,628,372 (GRCm39) |
H154Q |
probably damaging |
Het |
St7l |
A |
G |
3: 104,778,303 (GRCm39) |
T147A |
probably benign |
Het |
Stab1 |
G |
A |
14: 30,867,985 (GRCm39) |
Q1630* |
probably null |
Het |
Stpg2 |
A |
G |
3: 138,937,960 (GRCm39) |
D173G |
probably benign |
Het |
Tcf20 |
G |
A |
15: 82,736,978 (GRCm39) |
T1491I |
probably benign |
Het |
Themis2 |
A |
T |
4: 132,516,960 (GRCm39) |
I180N |
possibly damaging |
Het |
Timd5 |
T |
C |
11: 46,417,121 (GRCm39) |
L13P |
probably damaging |
Het |
Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,638,340 (GRCm39) |
V13980A |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,575,978 (GRCm39) |
V24972M |
probably damaging |
Het |
Usp5 |
A |
T |
6: 124,800,423 (GRCm39) |
M286K |
possibly damaging |
Het |
Vmn2r22 |
G |
A |
6: 123,614,802 (GRCm39) |
R263C |
possibly damaging |
Het |
Vmn2r71 |
T |
G |
7: 85,270,435 (GRCm39) |
C534G |
probably damaging |
Het |
Wnk2 |
C |
T |
13: 49,214,202 (GRCm39) |
S1460N |
possibly damaging |
Het |
Zfp445 |
G |
A |
9: 122,681,707 (GRCm39) |
P745S |
probably damaging |
Het |
Zfp957 |
C |
T |
14: 79,451,436 (GRCm39) |
G121D |
probably damaging |
Het |
Zscan4f |
A |
G |
7: 11,135,254 (GRCm39) |
E220G |
possibly damaging |
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 |
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'- CCTGCAACATCAGATGCCTTTCAAGTA -3'
(R):5'- GGAGCCGTAGTTGGGAAAGCCT -3'
Sequencing Primer
(F):5'- CCCATACTTCTTGTGAAGTTGAG -3'
(R):5'- CCGTAGTTGGGAAAGCCTTTTTAATC -3'
|
Posted On |
2014-05-14 |