Incidental Mutation 'R8193:Nrp1'
| ID |
635297 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
067616-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8193 (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 T
at 129187187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 411
(W411L)
|
| 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: W411L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: W411L
| 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: 99.5%
- 20x: 98.4%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700006A11Rik |
A |
T |
3: 124,213,517 (GRCm39) |
V48E |
possibly damaging |
Het |
| 4930522H14Rik |
A |
G |
4: 109,381,529 (GRCm39) |
L83S |
probably benign |
Het |
| Abhd18 |
C |
A |
3: 40,884,660 (GRCm39) |
T233K |
probably benign |
Het |
| Adam26a |
A |
T |
8: 44,022,273 (GRCm39) |
C406S |
probably damaging |
Het |
| Anp32e |
G |
A |
3: 95,836,710 (GRCm39) |
|
probably benign |
Het |
| Cd33 |
C |
T |
7: 43,181,696 (GRCm39) |
A155T |
possibly damaging |
Het |
| Cdc25c |
A |
T |
18: 34,882,675 (GRCm39) |
|
probably null |
Het |
| Cep350 |
A |
G |
1: 155,737,825 (GRCm39) |
S2673P |
probably benign |
Het |
| Chodl |
T |
C |
16: 78,738,412 (GRCm39) |
S127P |
probably damaging |
Het |
| Clstn2 |
A |
G |
9: 97,465,683 (GRCm39) |
S103P |
probably damaging |
Het |
| Crocc2 |
T |
A |
1: 93,117,888 (GRCm39) |
|
probably null |
Het |
| Cyp24a1 |
A |
G |
2: 170,327,622 (GRCm39) |
L507P |
probably damaging |
Het |
| Dcbld2 |
T |
A |
16: 58,284,373 (GRCm39) |
|
probably null |
Het |
| Dnah14 |
T |
C |
1: 181,515,770 (GRCm39) |
Y1991H |
probably damaging |
Het |
| Dnajb8 |
C |
T |
6: 88,199,940 (GRCm39) |
R159C |
possibly damaging |
Het |
| Edrf1 |
C |
T |
7: 133,263,606 (GRCm39) |
T971I |
possibly damaging |
Het |
| Ermap |
A |
G |
4: 119,041,140 (GRCm39) |
I290T |
possibly damaging |
Het |
| Eva1a |
A |
T |
6: 82,068,921 (GRCm39) |
S83C |
probably benign |
Het |
| Fcgbp |
A |
T |
7: 27,804,276 (GRCm39) |
N1795Y |
probably damaging |
Het |
| Foxg1 |
A |
G |
12: 49,432,377 (GRCm39) |
H370R |
possibly damaging |
Het |
| Gabra1 |
A |
G |
11: 42,037,968 (GRCm39) |
Y217H |
probably damaging |
Het |
| Gm3086 |
A |
G |
12: 70,016,264 (GRCm39) |
N62S |
noncoding transcript |
Het |
| Hmcn1 |
A |
T |
1: 150,453,228 (GRCm39) |
Y5362* |
probably null |
Het |
| Igkv5-37 |
C |
A |
6: 69,940,796 (GRCm39) |
|
probably benign |
Het |
| Ints3 |
A |
G |
3: 90,307,929 (GRCm39) |
V647A |
possibly damaging |
Het |
| Itga1 |
A |
G |
13: 115,104,991 (GRCm39) |
|
probably null |
Het |
| Limk2 |
T |
C |
11: 3,297,691 (GRCm39) |
K481E |
possibly damaging |
Het |
| Lonp2 |
G |
T |
8: 87,358,091 (GRCm39) |
G104V |
probably damaging |
Het |
| Lpar5 |
T |
C |
6: 125,058,302 (GRCm39) |
S8P |
probably benign |
Het |
| Map2k7 |
T |
C |
8: 4,294,059 (GRCm39) |
F202L |
probably benign |
Het |
| Mark1 |
T |
G |
1: 184,660,249 (GRCm39) |
M136L |
probably damaging |
Het |
| Myo15b |
T |
C |
11: 115,775,973 (GRCm39) |
S590P |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,483,010 (GRCm39) |
V1429A |
probably damaging |
Het |
| Nbeal1 |
T |
A |
1: 60,292,640 (GRCm39) |
Y1097* |
probably null |
Het |
| Ncf4 |
T |
C |
15: 78,146,466 (GRCm39) |
S299P |
probably damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,642,214 (GRCm39) |
D68G |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,692,037 (GRCm39) |
S154P |
possibly damaging |
Het |
| Or10d1b |
T |
C |
9: 39,613,498 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or4c105 |
T |
A |
2: 88,647,803 (GRCm39) |
M96K |
probably damaging |
Het |
| Or5t18 |
T |
G |
2: 86,637,209 (GRCm39) |
I45L |
noncoding transcript |
Het |
| Or8g2b |
T |
C |
9: 39,750,757 (GRCm39) |
I9T |
probably benign |
Het |
| Or9g4b |
T |
C |
2: 85,616,305 (GRCm39) |
V150A |
probably benign |
Het |
| Pcsk5 |
A |
G |
19: 17,563,415 (GRCm39) |
V574A |
possibly damaging |
Het |
| Prex1 |
C |
A |
2: 166,435,780 (GRCm39) |
R589L |
possibly damaging |
Het |
| Prl7d1 |
A |
G |
13: 27,893,230 (GRCm39) |
V227A |
|
Het |
| Prpf40b |
T |
A |
15: 99,201,949 (GRCm39) |
F16I |
unknown |
Het |
| Rasa2 |
G |
A |
9: 96,484,791 (GRCm39) |
P141L |
probably damaging |
Het |
| Rtl1 |
A |
G |
12: 109,558,650 (GRCm39) |
V1063A |
probably benign |
Het |
| Sema4d |
A |
T |
13: 51,859,192 (GRCm39) |
C512* |
probably null |
Het |
| Slc19a2 |
A |
G |
1: 164,084,794 (GRCm39) |
N228S |
probably benign |
Het |
| Tcf4 |
A |
T |
18: 69,633,994 (GRCm39) |
|
probably benign |
Het |
| Tnks2 |
T |
C |
19: 36,832,353 (GRCm39) |
V264A |
possibly damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
| Usp53 |
T |
C |
3: 122,741,012 (GRCm39) |
E746G |
probably benign |
Het |
| Utp18 |
T |
C |
11: 93,766,903 (GRCm39) |
D268G |
probably damaging |
Het |
| Vmn1r172 |
T |
A |
7: 23,359,752 (GRCm39) |
Y212* |
probably null |
Het |
| Vmn2r100 |
T |
A |
17: 19,725,102 (GRCm39) |
C10* |
probably null |
Het |
| Vmn2r113 |
G |
T |
17: 23,164,501 (GRCm39) |
V135F |
probably benign |
Het |
| Vps54 |
T |
C |
11: 21,242,045 (GRCm39) |
F387L |
probably benign |
Het |
| Xab2 |
A |
C |
8: 3,663,389 (GRCm39) |
D450E |
probably benign |
Het |
| Zfp408 |
G |
T |
2: 91,475,361 (GRCm39) |
R598S |
probably benign |
Het |
| Zfp788 |
T |
A |
7: 41,298,038 (GRCm39) |
C225S |
probably benign |
Het |
| Zfp944 |
T |
A |
17: 22,558,861 (GRCm39) |
K129* |
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 |
|
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 |
|
|
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'- GTTACGAGCATTTGTGGACAG -3'
(R):5'- ACATTCAGTGTACAGGCCC -3'
Sequencing Primer
(F):5'- CGAGCATTTGTGGACAGCTTCAG -3'
(R):5'- TGTGAAATGTTCCCCACAGG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation