Incidental Mutation 'R1055:Nrp1'
ID |
94279 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nrp1
|
Ensembl Gene |
ENSMUSG00000025810 |
Gene Name |
neuropilin 1 |
Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
MMRRC Submission |
039145-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1055 (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 129195079 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 512
(M512V)
|
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 |
possibly damaging
Transcript: ENSMUST00000026917
AA Change: M512V
PolyPhen 2
Score 0.684 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000026917 Gene: ENSMUSG00000025810 AA Change: M512V
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 |
0.1020 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.3%
- 20x: 87.5%
|
Validation Efficiency |
100% (58/58) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930578I06Rik |
A |
G |
14: 64,210,724 (GRCm39) |
V168A |
possibly damaging |
Het |
A1cf |
C |
A |
19: 31,909,919 (GRCm39) |
T237N |
probably benign |
Het |
Actl10 |
A |
T |
2: 154,394,588 (GRCm39) |
Q180L |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,059,075 (GRCm39) |
L327P |
probably damaging |
Het |
Adcy7 |
T |
C |
8: 89,044,685 (GRCm39) |
|
probably benign |
Het |
Ahctf1 |
G |
A |
1: 179,591,051 (GRCm39) |
T1243I |
possibly damaging |
Het |
Akap6 |
C |
T |
12: 52,927,455 (GRCm39) |
Q122* |
probably null |
Het |
Apob |
G |
A |
12: 8,044,963 (GRCm39) |
G861D |
probably damaging |
Het |
Arhgef11 |
A |
C |
3: 87,624,425 (GRCm39) |
T539P |
probably benign |
Het |
Cd244a |
T |
A |
1: 171,404,844 (GRCm39) |
V232E |
probably damaging |
Het |
Chia1 |
A |
C |
3: 106,038,199 (GRCm39) |
D365A |
probably damaging |
Het |
Clpsl2 |
C |
T |
17: 28,768,500 (GRCm39) |
Q5* |
probably null |
Het |
Clrn1 |
T |
A |
3: 58,772,531 (GRCm39) |
I117F |
probably benign |
Het |
Csmd3 |
A |
G |
15: 47,744,933 (GRCm39) |
L1354P |
probably damaging |
Het |
Csn2 |
G |
A |
5: 87,842,596 (GRCm39) |
P144S |
possibly damaging |
Het |
Dcdc2a |
T |
A |
13: 25,286,593 (GRCm39) |
M172K |
probably damaging |
Het |
Dnah9 |
A |
T |
11: 66,050,837 (GRCm39) |
W152R |
probably damaging |
Het |
Dnmt3a |
T |
A |
12: 3,922,864 (GRCm39) |
S82T |
probably benign |
Het |
Ebf1 |
A |
G |
11: 44,523,602 (GRCm39) |
K146E |
probably damaging |
Het |
Gfpt2 |
A |
C |
11: 49,718,038 (GRCm39) |
R504S |
probably damaging |
Het |
Gpank1 |
T |
A |
17: 35,343,284 (GRCm39) |
S255T |
probably damaging |
Het |
Greb1 |
T |
C |
12: 16,732,252 (GRCm39) |
M1570V |
probably damaging |
Het |
Gtf2i |
A |
T |
5: 134,292,478 (GRCm39) |
I403K |
probably damaging |
Het |
Hoxc11 |
T |
A |
15: 102,863,270 (GRCm39) |
C104S |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Ilrun |
T |
C |
17: 27,986,910 (GRCm39) |
N272S |
probably damaging |
Het |
Khdrbs2 |
A |
T |
1: 32,683,238 (GRCm39) |
|
probably benign |
Het |
Lix1l |
G |
T |
3: 96,528,626 (GRCm39) |
G200V |
probably damaging |
Het |
Lrrc23 |
T |
C |
6: 124,755,114 (GRCm39) |
N141S |
probably damaging |
Het |
Marchf11 |
A |
T |
15: 26,309,748 (GRCm39) |
D134V |
probably damaging |
Het |
Myo9a |
A |
T |
9: 59,762,653 (GRCm39) |
T795S |
probably benign |
Het |
Nhsl1 |
T |
A |
10: 18,401,223 (GRCm39) |
D782E |
probably benign |
Het |
Nptxr |
T |
C |
15: 79,674,456 (GRCm39) |
|
probably benign |
Het |
Ofcc1 |
C |
T |
13: 40,362,305 (GRCm39) |
G206R |
probably benign |
Het |
Or12e7 |
ATTGCTACTC |
A |
2: 87,287,781 (GRCm39) |
|
probably benign |
Het |
Or5b3 |
G |
A |
19: 13,388,754 (GRCm39) |
A274T |
probably benign |
Het |
Pard3 |
T |
C |
8: 128,104,761 (GRCm39) |
F267S |
probably benign |
Het |
Pomt2 |
G |
A |
12: 87,194,254 (GRCm39) |
T50M |
possibly damaging |
Het |
Qsox2 |
A |
G |
2: 26,104,137 (GRCm39) |
Y298H |
probably damaging |
Het |
Rabgap1 |
A |
G |
2: 37,382,080 (GRCm39) |
K450E |
possibly damaging |
Het |
Rpa1 |
A |
T |
11: 75,193,558 (GRCm39) |
V591D |
probably damaging |
Het |
Sall3 |
A |
C |
18: 81,013,007 (GRCm39) |
M1143R |
probably benign |
Het |
Scgb1b19 |
G |
T |
7: 32,986,768 (GRCm39) |
A13S |
unknown |
Het |
Scn1a |
T |
C |
2: 66,168,340 (GRCm39) |
T89A |
probably benign |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sdr42e1 |
T |
G |
8: 118,390,323 (GRCm39) |
N106T |
probably damaging |
Het |
Shpk |
A |
T |
11: 73,105,945 (GRCm39) |
M266L |
probably benign |
Het |
Slc34a1 |
G |
T |
13: 55,550,846 (GRCm39) |
R139L |
probably benign |
Het |
Smbd1 |
C |
A |
16: 32,627,088 (GRCm39) |
D67Y |
probably damaging |
Het |
Srd5a3 |
A |
G |
5: 76,301,485 (GRCm39) |
N238S |
probably benign |
Het |
Tmprss2 |
T |
C |
16: 97,377,462 (GRCm39) |
N212D |
probably damaging |
Het |
Uap1 |
G |
T |
1: 169,984,480 (GRCm39) |
|
probably benign |
Het |
Ugt1a6a |
A |
G |
1: 88,066,736 (GRCm39) |
M181V |
probably benign |
Het |
Vmn2r32 |
C |
T |
7: 7,477,326 (GRCm39) |
W355* |
probably null |
Het |
Vmn2r86 |
T |
A |
10: 130,282,226 (GRCm39) |
S797C |
probably damaging |
Het |
Wiz |
A |
G |
17: 32,606,616 (GRCm39) |
S40P |
probably damaging |
Het |
Zfand6 |
A |
G |
7: 84,265,181 (GRCm39) |
|
probably benign |
Het |
Zfp280d |
G |
A |
9: 72,236,449 (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 |
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 |
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'- AAAACATCCGTCTGGTGACCAGTC -3'
(R):5'- CTGTGCTTCCCTGGGAAATCTGAC -3'
Sequencing Primer
(F):5'- GGTGACCAGTCGTACCG -3'
(R):5'- gagaaagagagagagagaaagagag -3'
|
Posted On |
2014-01-05 |