Incidental Mutation 'R5301:Nrp1'
| ID |
404248 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
042884-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5301 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to G
at 129160678 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000026917
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
| 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: ENSMUST00000212933
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
93% (52/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca4 |
T |
C |
3: 121,896,502 (GRCm39) |
V578A |
probably damaging |
Het |
| Abcb11 |
T |
C |
2: 69,117,191 (GRCm39) |
I486V |
probably damaging |
Het |
| Abcc9 |
G |
A |
6: 142,536,207 (GRCm39) |
T1509I |
probably benign |
Het |
| Akr1c20 |
T |
A |
13: 4,573,279 (GRCm39) |
D12V |
probably damaging |
Het |
| Asb1 |
A |
G |
1: 91,482,475 (GRCm39) |
Y66C |
probably damaging |
Het |
| Atg14 |
G |
A |
14: 47,805,656 (GRCm39) |
R70C |
probably damaging |
Het |
| Bcl10 |
A |
G |
3: 145,636,342 (GRCm39) |
D80G |
probably damaging |
Het |
| Bdnf |
T |
C |
2: 109,553,884 (GRCm39) |
V46A |
probably benign |
Het |
| Cyp11a1 |
A |
G |
9: 57,926,544 (GRCm39) |
|
probably benign |
Het |
| Cyp3a44 |
A |
G |
5: 145,725,326 (GRCm39) |
S292P |
probably damaging |
Het |
| Desi2 |
A |
G |
1: 178,071,952 (GRCm39) |
I85M |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Dock10 |
T |
C |
1: 80,625,973 (GRCm39) |
D49G |
probably benign |
Het |
| Epcam |
T |
A |
17: 87,944,305 (GRCm39) |
L20Q |
possibly damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,550 (GRCm39) |
V589A |
probably damaging |
Het |
| Fcgbp |
A |
T |
7: 27,793,099 (GRCm39) |
K1034N |
possibly damaging |
Het |
| Fras1 |
C |
T |
5: 96,805,125 (GRCm39) |
L1256F |
possibly damaging |
Het |
| Gata5 |
T |
C |
2: 179,975,786 (GRCm39) |
Y126C |
probably damaging |
Het |
| Gja1 |
T |
C |
10: 56,264,475 (GRCm39) |
L278P |
probably damaging |
Het |
| Gm11596 |
C |
A |
11: 99,683,847 (GRCm39) |
R91L |
unknown |
Het |
| Gm29125 |
A |
T |
1: 80,362,154 (GRCm39) |
|
noncoding transcript |
Het |
| Hcrtr1 |
G |
T |
4: 130,031,463 (GRCm39) |
|
probably null |
Het |
| Ifi207 |
G |
A |
1: 173,556,977 (GRCm39) |
S587L |
possibly damaging |
Het |
| Ino80d |
T |
C |
1: 63,113,578 (GRCm39) |
T291A |
probably benign |
Het |
| Itgb3 |
A |
G |
11: 104,524,480 (GRCm39) |
|
probably null |
Het |
| Kif26b |
A |
G |
1: 178,358,233 (GRCm39) |
S115G |
unknown |
Het |
| Klc3 |
T |
C |
7: 19,130,274 (GRCm39) |
Y301C |
probably damaging |
Het |
| Klhl18 |
G |
C |
9: 110,265,195 (GRCm39) |
N335K |
possibly damaging |
Het |
| Meioc |
A |
T |
11: 102,570,871 (GRCm39) |
R867S |
probably damaging |
Het |
| Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Mthfd2 |
C |
A |
6: 83,287,465 (GRCm39) |
G200V |
probably damaging |
Het |
| Nrap |
A |
G |
19: 56,367,541 (GRCm39) |
I312T |
probably damaging |
Het |
| Obscn |
A |
G |
11: 59,026,234 (GRCm39) |
L323P |
probably damaging |
Het |
| Or11g1 |
T |
C |
14: 50,651,030 (GRCm39) |
S10P |
probably benign |
Het |
| Or1b1 |
C |
T |
2: 36,995,210 (GRCm39) |
V151M |
probably benign |
Het |
| Or9i14 |
G |
A |
19: 13,792,933 (GRCm39) |
T7I |
probably damaging |
Het |
| Pkn2 |
A |
C |
3: 142,544,967 (GRCm39) |
|
probably null |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,237 (GRCm39) |
R371G |
probably benign |
Het |
| Prkar2b |
A |
C |
12: 32,025,927 (GRCm39) |
V31G |
probably damaging |
Het |
| Reg3b |
T |
A |
6: 78,348,243 (GRCm39) |
M19K |
probably damaging |
Het |
| Sec14l2 |
G |
A |
11: 4,068,727 (GRCm39) |
|
probably benign |
Het |
| Sgca |
C |
T |
11: 94,854,157 (GRCm39) |
R104Q |
probably damaging |
Het |
| Slc17a6 |
A |
G |
7: 51,308,519 (GRCm39) |
Y281C |
probably damaging |
Het |
| Sorcs2 |
A |
G |
5: 36,196,734 (GRCm39) |
V637A |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,002,963 (GRCm39) |
|
probably null |
Het |
| Tmem181a |
T |
C |
17: 6,346,070 (GRCm39) |
I229T |
possibly damaging |
Het |
| Tmpo |
A |
T |
10: 90,985,650 (GRCm39) |
|
probably benign |
Het |
| Ttc41 |
T |
C |
10: 86,555,384 (GRCm39) |
V280A |
probably benign |
Het |
| Vmn1r234 |
G |
T |
17: 21,449,589 (GRCm39) |
V168F |
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,817,950 (GRCm39) |
I701N |
probably damaging |
Het |
| Wnt16 |
T |
A |
6: 22,297,848 (GRCm39) |
M238K |
probably damaging |
Het |
| Zfp607b |
A |
G |
7: 27,403,172 (GRCm39) |
T543A |
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 |
|
|
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 |
|
|
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'- CCTGGGGTGTACATAAAGCTG -3'
(R):5'- CATATGTCTCAACTGTGCCCAGC -3'
Sequencing Primer
(F):5'- GACTAGAGCTTATGTGCTAGCTAGAC -3'
(R):5'- AACTGTGCCCAGCCTTGTG -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation