Incidental Mutation 'R7553:Nrp1'
| ID |
584561 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
045622-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 129158468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 252
(A252T)
|
| 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: A252T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: A252T
| 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: 99.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
A |
G |
7: 45,648,545 (GRCm39) |
L649P |
probably damaging |
Het |
| Acad10 |
T |
C |
5: 121,777,318 (GRCm39) |
Y371C |
probably damaging |
Het |
| Avp |
A |
G |
2: 130,423,098 (GRCm39) |
V71A |
probably damaging |
Het |
| Bhmt |
C |
T |
13: 93,756,589 (GRCm39) |
|
probably null |
Het |
| Capn15 |
T |
C |
17: 26,179,738 (GRCm39) |
E874G |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,773,231 (GRCm39) |
F591S |
probably damaging |
Het |
| Ccne2 |
A |
T |
4: 11,201,348 (GRCm39) |
Q292L |
probably benign |
Het |
| Cd96 |
T |
G |
16: 45,872,384 (GRCm39) |
T406P |
probably damaging |
Het |
| Csnk1e |
G |
A |
15: 79,310,566 (GRCm39) |
A153V |
probably damaging |
Het |
| Dlk1 |
G |
A |
12: 109,420,889 (GRCm39) |
V15I |
unknown |
Het |
| Dmbt1 |
A |
G |
7: 130,706,597 (GRCm39) |
N1372S |
unknown |
Het |
| Dntt |
A |
T |
19: 41,017,926 (GRCm39) |
R17W |
probably damaging |
Het |
| Erich3 |
G |
T |
3: 154,439,137 (GRCm39) |
A260S |
probably benign |
Het |
| Foxp2 |
C |
T |
6: 15,437,881 (GRCm39) |
S669L |
unknown |
Het |
| Gm40460 |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG |
7: 141,794,450 (GRCm39) |
|
probably benign |
Het |
| Grid2 |
A |
G |
6: 64,053,925 (GRCm39) |
K375E |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,749,394 (GRCm39) |
G603S |
possibly damaging |
Het |
| Hexb |
C |
T |
13: 97,334,681 (GRCm39) |
R30Q |
probably benign |
Het |
| Homer3 |
A |
T |
8: 70,742,774 (GRCm39) |
T162S |
probably benign |
Het |
| L3mbtl1 |
A |
G |
2: 162,790,151 (GRCm39) |
E15G |
probably benign |
Het |
| Manea |
A |
T |
4: 26,327,986 (GRCm39) |
F352I |
probably damaging |
Het |
| Mcf2l |
T |
A |
8: 13,047,268 (GRCm39) |
M210K |
probably benign |
Het |
| Morc3 |
T |
C |
16: 93,667,824 (GRCm39) |
L734P |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,155,571 (GRCm39) |
V894A |
possibly damaging |
Het |
| Myh4 |
T |
A |
11: 67,147,221 (GRCm39) |
M1622K |
probably damaging |
Het |
| Myrf |
A |
G |
19: 10,206,240 (GRCm39) |
F59L |
probably benign |
Het |
| Ndst3 |
G |
T |
3: 123,350,709 (GRCm39) |
|
probably null |
Het |
| Nln |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
TGGTCCAGGTAAAACTGCCCCAGCCAATCAGGTACCTTGGATAGAGGTCCAGGTAGAACTGCCCCAGC |
13: 104,186,924 (GRCm39) |
|
probably null |
Het |
| Nos3 |
A |
T |
5: 24,586,715 (GRCm39) |
D986V |
possibly damaging |
Het |
| Nup205 |
G |
T |
6: 35,178,934 (GRCm39) |
R668L |
probably damaging |
Het |
| Or51aa2 |
T |
C |
7: 103,188,363 (GRCm39) |
Y26C |
probably damaging |
Het |
| Or5af2 |
T |
A |
11: 58,707,886 (GRCm39) |
D17E |
probably benign |
Het |
| Or5p56 |
G |
A |
7: 107,589,682 (GRCm39) |
V37I |
probably benign |
Het |
| Pcdhga1 |
T |
A |
18: 37,882,735 (GRCm39) |
|
probably null |
Het |
| Pck1 |
A |
G |
2: 172,998,860 (GRCm39) |
I373V |
probably benign |
Het |
| Pde8b |
T |
C |
13: 95,223,258 (GRCm39) |
N227S |
probably benign |
Het |
| Pianp |
T |
G |
6: 124,976,214 (GRCm39) |
S8A |
unknown |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
| Pla2r1 |
A |
T |
2: 60,353,243 (GRCm39) |
N239K |
possibly damaging |
Het |
| Pls1 |
T |
A |
9: 95,669,140 (GRCm39) |
N27I |
probably damaging |
Het |
| Prep |
T |
C |
10: 45,034,620 (GRCm39) |
*711Q |
probably null |
Het |
| Prkag3 |
A |
G |
1: 74,783,894 (GRCm39) |
F330L |
probably damaging |
Het |
| Prss56 |
A |
G |
1: 87,111,261 (GRCm39) |
D16G |
probably benign |
Het |
| Rad17 |
A |
T |
13: 100,769,794 (GRCm39) |
F255Y |
probably damaging |
Het |
| Rap1gap2 |
T |
C |
11: 74,326,548 (GRCm39) |
E173G |
probably damaging |
Het |
| Retreg3 |
C |
T |
11: 100,997,216 (GRCm39) |
R88H |
possibly damaging |
Het |
| Rhag |
G |
A |
17: 41,139,286 (GRCm39) |
G74R |
probably damaging |
Het |
| Rybp |
A |
G |
6: 100,209,220 (GRCm39) |
S201P |
possibly damaging |
Het |
| S100a10 |
G |
A |
3: 93,471,602 (GRCm39) |
C62Y |
probably benign |
Het |
| Scgb2b3 |
T |
A |
7: 31,059,673 (GRCm39) |
S34C |
possibly damaging |
Het |
| Serpind1 |
A |
G |
16: 17,154,539 (GRCm39) |
D122G |
probably benign |
Het |
| Setdb1 |
A |
G |
3: 95,254,076 (GRCm39) |
L242P |
probably damaging |
Het |
| Slc14a2 |
T |
A |
18: 78,198,803 (GRCm39) |
I776F |
probably damaging |
Het |
| Slc9a1 |
A |
G |
4: 133,139,580 (GRCm39) |
E266G |
probably damaging |
Het |
| Stard9 |
A |
T |
2: 120,524,289 (GRCm39) |
|
probably null |
Het |
| Stpg2 |
A |
G |
3: 138,924,098 (GRCm39) |
Y167C |
probably damaging |
Het |
| Tex264 |
T |
C |
9: 106,536,335 (GRCm39) |
E274G |
probably damaging |
Het |
| Tigd2 |
G |
A |
6: 59,188,564 (GRCm39) |
S477N |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,589,752 (GRCm39) |
L343P |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,975,680 (GRCm39) |
C246S |
possibly damaging |
Het |
| Vil1 |
G |
A |
1: 74,465,891 (GRCm39) |
|
probably null |
Het |
| Vmn2r61 |
C |
G |
7: 41,916,205 (GRCm39) |
L273V |
not run |
Het |
| Vmn2r-ps158 |
T |
G |
7: 42,697,447 (GRCm39) |
C835G |
probably damaging |
Het |
| Zfp37 |
C |
A |
4: 62,110,236 (GRCm39) |
G317V |
probably damaging |
Het |
| Zfp760 |
A |
G |
17: 21,941,872 (GRCm39) |
K349R |
possibly damaging |
Het |
| Zyx |
A |
T |
6: 42,327,408 (GRCm39) |
E69V |
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 |
|
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'- AGGTGACAGCCATCCTTGTG -3'
(R):5'- GCAGTGTGCAGACCTTTTCC -3'
Sequencing Primer
(F):5'- GTGTTCCTCCGAGACTTGTC -3'
(R):5'- CCAATTGACACCCACGTTTG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation