Incidental Mutation 'IGL01412:Nrp1'
| ID |
80107 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01412
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 129145188 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 benign
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: ENSMUST00000212746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212933
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6030458C11Rik |
G |
A |
15: 12,815,958 (GRCm39) |
Q222* |
probably null |
Het |
| Adamts2 |
A |
G |
11: 50,686,230 (GRCm39) |
E1016G |
probably benign |
Het |
| Agmo |
G |
A |
12: 37,452,140 (GRCm39) |
E269K |
possibly damaging |
Het |
| Agrn |
A |
T |
4: 156,255,491 (GRCm39) |
|
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,473,621 (GRCm39) |
L794Q |
possibly damaging |
Het |
| Asb14 |
T |
A |
14: 26,637,022 (GRCm39) |
L588H |
probably damaging |
Het |
| Btbd16 |
A |
T |
7: 130,407,549 (GRCm39) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,610,924 (GRCm39) |
K625E |
probably benign |
Het |
| Cdh23 |
T |
C |
10: 60,150,473 (GRCm39) |
D2499G |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,873,707 (GRCm39) |
D687V |
probably damaging |
Het |
| Cops8 |
G |
T |
1: 90,532,153 (GRCm39) |
L45F |
possibly damaging |
Het |
| D130043K22Rik |
A |
G |
13: 25,071,843 (GRCm39) |
H929R |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,492,962 (GRCm39) |
E1241G |
probably damaging |
Het |
| Dock4 |
T |
A |
12: 40,780,040 (GRCm39) |
|
probably benign |
Het |
| Dsg1c |
A |
G |
18: 20,380,518 (GRCm39) |
I8V |
probably benign |
Het |
| Dst |
T |
C |
1: 34,281,701 (GRCm39) |
V5435A |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,945,330 (GRCm39) |
I1408V |
probably benign |
Het |
| Fhit |
G |
T |
14: 9,870,065 (GRCm38) |
H72N |
probably damaging |
Het |
| Foxp2 |
C |
A |
6: 15,376,757 (GRCm39) |
|
probably benign |
Het |
| Fpgt |
T |
C |
3: 154,792,359 (GRCm39) |
Q556R |
probably benign |
Het |
| Galntl6 |
T |
A |
8: 58,230,328 (GRCm39) |
E30V |
probably damaging |
Het |
| Gemin4 |
A |
T |
11: 76,104,311 (GRCm39) |
V150D |
probably benign |
Het |
| Grm8 |
C |
T |
6: 27,762,460 (GRCm39) |
R255H |
probably damaging |
Het |
| Hapln3 |
G |
A |
7: 78,767,184 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 35,055,916 (GRCm39) |
L2609Q |
probably damaging |
Het |
| Igdcc4 |
A |
G |
9: 65,021,731 (GRCm39) |
|
probably benign |
Het |
| Isx |
T |
C |
8: 75,619,306 (GRCm39) |
L166P |
probably benign |
Het |
| Kcnt2 |
G |
A |
1: 140,498,155 (GRCm39) |
M884I |
probably benign |
Het |
| Leo1 |
A |
G |
9: 75,373,524 (GRCm39) |
N650D |
probably benign |
Het |
| Man1a |
A |
G |
10: 53,950,810 (GRCm39) |
V195A |
probably benign |
Het |
| Map2k5 |
A |
T |
9: 63,200,988 (GRCm39) |
I215N |
probably damaging |
Het |
| Mier2 |
A |
G |
10: 79,377,014 (GRCm39) |
*542R |
probably null |
Het |
| Mrgbp |
T |
A |
2: 180,225,209 (GRCm39) |
F55Y |
probably damaging |
Het |
| Nadsyn1 |
A |
T |
7: 143,362,527 (GRCm39) |
|
probably null |
Het |
| Nedd9 |
A |
T |
13: 41,469,262 (GRCm39) |
Y630* |
probably null |
Het |
| Or4k15b |
A |
G |
14: 50,272,770 (GRCm39) |
I30T |
probably benign |
Het |
| Or51q1c |
T |
A |
7: 103,652,842 (GRCm39) |
M120K |
probably damaging |
Het |
| Or52z12 |
A |
G |
7: 103,234,114 (GRCm39) |
N295S |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,461 (GRCm39) |
L292Q |
probably damaging |
Het |
| Or7g21 |
T |
A |
9: 19,032,895 (GRCm39) |
C212S |
probably benign |
Het |
| Pcnx1 |
A |
T |
12: 81,953,239 (GRCm39) |
I127F |
probably damaging |
Het |
| Pik3ap1 |
T |
C |
19: 41,364,329 (GRCm39) |
E130G |
possibly damaging |
Het |
| Pkd1l1 |
G |
T |
11: 8,900,409 (GRCm39) |
T44N |
possibly damaging |
Het |
| Polr1c |
A |
G |
17: 46,555,135 (GRCm39) |
S226P |
probably damaging |
Het |
| Pramel28 |
A |
C |
4: 143,691,565 (GRCm39) |
V386G |
probably damaging |
Het |
| Prep |
A |
G |
10: 45,029,208 (GRCm39) |
Y536C |
probably damaging |
Het |
| Ptprb |
A |
G |
10: 116,179,820 (GRCm39) |
T1413A |
probably benign |
Het |
| Pwwp3a |
T |
A |
10: 80,070,163 (GRCm39) |
|
probably null |
Het |
| Ryr2 |
T |
A |
13: 11,756,922 (GRCm39) |
K1577N |
probably benign |
Het |
| Selplg |
G |
T |
5: 113,957,529 (GRCm39) |
T33K |
probably damaging |
Het |
| Slc26a5 |
T |
A |
5: 22,020,734 (GRCm39) |
I505L |
probably damaging |
Het |
| Slc39a6 |
T |
C |
18: 24,718,413 (GRCm39) |
N548S |
probably damaging |
Het |
| Sp7 |
T |
C |
15: 102,267,798 (GRCm39) |
T3A |
possibly damaging |
Het |
| Tango6 |
T |
C |
8: 107,545,131 (GRCm39) |
V998A |
probably benign |
Het |
| Tas2r130 |
A |
T |
6: 131,607,473 (GRCm39) |
Y107* |
probably null |
Het |
| Tjp2 |
T |
C |
19: 24,078,139 (GRCm39) |
E918G |
probably damaging |
Het |
| Trim12a |
C |
T |
7: 103,956,202 (GRCm39) |
A113T |
probably benign |
Het |
| Zan |
T |
A |
5: 137,391,294 (GRCm39) |
D4730V |
unknown |
Het |
| Zfp607a |
A |
T |
7: 27,578,109 (GRCm39) |
D393V |
probably damaging |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2013-11-05 |
Incidental Mutation