Incidental Mutation 'R1462:Nrp1'
| ID |
186323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
039516-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1462 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 129229279 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 919
(N919S)
|
| 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: N919S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: N919S
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 92.0%
|
| Validation Efficiency |
99% (83/84) |
| 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: 83 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
C |
A |
7: 40,642,370 (GRCm39) |
S104* |
probably null |
Het |
| A430093F15Rik |
A |
T |
19: 10,762,845 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
T |
A |
11: 9,433,924 (GRCm39) |
|
probably benign |
Het |
| Abca9 |
T |
C |
11: 110,051,342 (GRCm39) |
D118G |
probably benign |
Het |
| Adamts16 |
A |
G |
13: 70,984,253 (GRCm39) |
F137L |
probably benign |
Het |
| Adamts3 |
T |
C |
5: 90,009,208 (GRCm39) |
I152V |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,015,765 (GRCm39) |
E441D |
possibly damaging |
Het |
| Adgra1 |
T |
A |
7: 139,455,745 (GRCm39) |
Y458N |
probably damaging |
Het |
| Atpaf1 |
C |
T |
4: 115,642,150 (GRCm39) |
|
probably benign |
Het |
| Bhlhe22 |
C |
G |
3: 18,109,946 (GRCm39) |
S332C |
probably damaging |
Het |
| Card19 |
T |
A |
13: 49,358,760 (GRCm39) |
Q71L |
probably benign |
Het |
| Ccdc12 |
T |
C |
9: 110,485,662 (GRCm39) |
L11P |
probably damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,813,307 (GRCm39) |
Y367H |
probably damaging |
Het |
| Cdc5l |
G |
T |
17: 45,719,288 (GRCm39) |
Q542K |
possibly damaging |
Het |
| Ceacam23 |
T |
G |
7: 17,649,516 (GRCm39) |
|
noncoding transcript |
Het |
| Cep170 |
T |
C |
1: 176,584,211 (GRCm39) |
K723E |
possibly damaging |
Het |
| Cep70 |
A |
G |
9: 99,145,773 (GRCm39) |
I147V |
probably benign |
Het |
| Cfap58 |
A |
T |
19: 47,950,869 (GRCm39) |
H410L |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,142,735 (GRCm39) |
K418R |
probably damaging |
Het |
| Cic |
T |
G |
7: 24,971,032 (GRCm39) |
D254E |
probably damaging |
Het |
| Ckap4 |
T |
C |
10: 84,363,431 (GRCm39) |
E544G |
probably damaging |
Het |
| Crnkl1 |
C |
T |
2: 145,763,739 (GRCm39) |
A500T |
probably damaging |
Het |
| Cyp2c38 |
T |
C |
19: 39,380,632 (GRCm39) |
N418D |
probably damaging |
Het |
| Daam1 |
A |
T |
12: 71,990,916 (GRCm39) |
I177L |
unknown |
Het |
| Dnah1 |
T |
C |
14: 30,990,738 (GRCm39) |
|
probably benign |
Het |
| Ercc5 |
A |
G |
1: 44,219,784 (GRCm39) |
T1019A |
probably damaging |
Het |
| F13b |
T |
A |
1: 139,435,374 (GRCm39) |
V173E |
probably damaging |
Het |
| Fam135b |
A |
G |
15: 71,493,845 (GRCm39) |
|
probably benign |
Het |
| Fam20a |
A |
C |
11: 109,568,143 (GRCm39) |
F316V |
probably damaging |
Het |
| Flrt2 |
T |
C |
12: 95,746,112 (GRCm39) |
V150A |
probably damaging |
Het |
| Fnta |
A |
C |
8: 26,489,599 (GRCm39) |
|
probably null |
Het |
| Ghsr |
A |
G |
3: 27,426,025 (GRCm39) |
D27G |
probably benign |
Het |
| Glis3 |
G |
T |
19: 28,239,918 (GRCm39) |
|
probably benign |
Het |
| Gtpbp1 |
A |
G |
15: 79,592,086 (GRCm39) |
N96D |
probably damaging |
Het |
| H1f7 |
A |
T |
15: 98,154,454 (GRCm39) |
W232R |
unknown |
Het |
| Hycc1 |
A |
G |
5: 24,190,730 (GRCm39) |
|
probably benign |
Het |
| Ibtk |
A |
T |
9: 85,606,198 (GRCm39) |
I443N |
probably damaging |
Het |
| Ifi207 |
T |
C |
1: 173,552,513 (GRCm39) |
H968R |
probably damaging |
Het |
| Ifit2 |
A |
G |
19: 34,550,586 (GRCm39) |
D42G |
probably null |
Het |
| Il17rc |
A |
T |
6: 113,455,950 (GRCm39) |
D265V |
probably damaging |
Het |
| Ints10 |
G |
A |
8: 69,260,296 (GRCm39) |
|
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,401,691 (GRCm39) |
D29G |
probably damaging |
Het |
| Itprid1 |
A |
G |
6: 55,952,649 (GRCm39) |
H864R |
probably damaging |
Het |
| Kcng3 |
A |
T |
17: 83,938,492 (GRCm39) |
C186S |
probably damaging |
Het |
| Lrrc1 |
A |
G |
9: 77,349,547 (GRCm39) |
F295L |
probably benign |
Het |
| Mrps28 |
T |
A |
3: 8,965,184 (GRCm39) |
H85L |
possibly damaging |
Het |
| Mtpn |
T |
A |
6: 35,499,693 (GRCm39) |
K37M |
possibly damaging |
Het |
| Mug1 |
C |
T |
6: 121,859,588 (GRCm39) |
H1196Y |
probably benign |
Het |
| Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
| Musk |
A |
G |
4: 58,286,204 (GRCm39) |
|
probably benign |
Het |
| Mybl2 |
T |
C |
2: 162,914,628 (GRCm39) |
S249P |
probably benign |
Het |
| Naip6 |
A |
G |
13: 100,436,748 (GRCm39) |
Y592H |
possibly damaging |
Het |
| Nudt9 |
C |
T |
5: 104,212,904 (GRCm39) |
Q326* |
probably null |
Het |
| Or5w13 |
A |
T |
2: 87,523,720 (GRCm39) |
C169S |
probably damaging |
Het |
| Or6c76b |
A |
G |
10: 129,693,100 (GRCm39) |
T238A |
probably damaging |
Het |
| Or7g17 |
T |
A |
9: 18,768,407 (GRCm39) |
M162K |
probably benign |
Het |
| Or9k7 |
T |
A |
10: 130,046,592 (GRCm39) |
I136F |
probably benign |
Het |
| Pcsk4 |
T |
C |
10: 80,161,815 (GRCm39) |
E142G |
probably damaging |
Het |
| Pde3a |
C |
A |
6: 141,405,560 (GRCm39) |
P471T |
probably benign |
Het |
| Pign |
A |
T |
1: 105,512,727 (GRCm39) |
V652E |
possibly damaging |
Het |
| Prkcb |
T |
A |
7: 122,181,672 (GRCm39) |
M420K |
probably damaging |
Het |
| Prr14 |
T |
A |
7: 127,073,160 (GRCm39) |
|
probably null |
Het |
| Rchy1 |
T |
A |
5: 92,105,741 (GRCm39) |
Q69L |
probably damaging |
Het |
| Sccpdh |
A |
C |
1: 179,509,125 (GRCm39) |
|
probably benign |
Het |
| Sec23ip |
T |
G |
7: 128,367,862 (GRCm39) |
S625A |
probably benign |
Het |
| Smpdl3b |
A |
G |
4: 132,473,925 (GRCm39) |
S47P |
probably damaging |
Het |
| Speer4a3 |
T |
A |
5: 26,156,623 (GRCm39) |
I119F |
possibly damaging |
Het |
| Stil |
G |
A |
4: 114,881,161 (GRCm39) |
M568I |
probably benign |
Het |
| Syt3 |
T |
A |
7: 44,045,434 (GRCm39) |
V558E |
probably damaging |
Het |
| Sytl3 |
A |
G |
17: 6,973,430 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
G |
4: 118,231,164 (GRCm39) |
V2533A |
unknown |
Het |
| Tenm4 |
A |
G |
7: 96,353,360 (GRCm39) |
Y384C |
probably damaging |
Het |
| Tfam |
T |
C |
10: 71,071,380 (GRCm39) |
E94G |
probably damaging |
Het |
| Tmbim7 |
A |
G |
5: 3,714,304 (GRCm39) |
T14A |
probably damaging |
Het |
| Tmtc2 |
A |
T |
10: 105,409,566 (GRCm39) |
Y15* |
probably null |
Het |
| Uhrf1 |
C |
T |
17: 56,625,035 (GRCm39) |
A526V |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,805,046 (GRCm39) |
D22G |
probably benign |
Het |
| Vmn2r96 |
A |
G |
17: 18,817,660 (GRCm39) |
I412M |
possibly damaging |
Het |
| Vmn2r-ps69 |
T |
A |
7: 84,959,560 (GRCm39) |
|
noncoding transcript |
Het |
| Wdr17 |
A |
T |
8: 55,123,363 (GRCm39) |
I479K |
probably damaging |
Het |
| Wt1 |
T |
C |
2: 104,997,176 (GRCm39) |
V371A |
probably damaging |
Het |
| Zfp536 |
G |
T |
7: 37,178,735 (GRCm39) |
S226Y |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,803,108 (GRCm39) |
V560A |
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 |
|
|
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'- TCACCATCATAGCCATGAGTGCCC -3'
(R):5'- TGATTCCTGTTGTTACCGCAGTCAC -3'
Sequencing Primer
(F):5'- CCATGAGTGCCCTGGGAG -3'
(R):5'- AGGTGACGCTCATTGAAGCTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation