Incidental Mutation 'R0046:Nrp1'
| ID |
43716 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
038340-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0046 (G1)
|
| Quality Score |
142 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 129227089 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
100% (83/83) |
| 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: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl7a |
A |
T |
4: 56,743,877 (GRCm39) |
K135* |
probably null |
Het |
| Adamts16 |
A |
G |
13: 70,911,579 (GRCm39) |
S871P |
probably benign |
Het |
| Adcy10 |
A |
T |
1: 165,367,403 (GRCm39) |
I558F |
probably damaging |
Het |
| Adsl |
T |
G |
15: 80,846,989 (GRCm39) |
|
probably null |
Het |
| Aldob |
T |
C |
4: 49,543,842 (GRCm39) |
I47V |
possibly damaging |
Het |
| Alkbh8 |
A |
G |
9: 3,343,247 (GRCm39) |
E46G |
probably damaging |
Het |
| Ankrd33b |
G |
A |
15: 31,367,483 (GRCm39) |
P19L |
probably damaging |
Het |
| Apoa5 |
T |
C |
9: 46,181,296 (GRCm39) |
L124S |
probably damaging |
Het |
| Atp1a4 |
A |
T |
1: 172,067,664 (GRCm39) |
L533Q |
probably benign |
Het |
| Atp7b |
T |
C |
8: 22,550,011 (GRCm39) |
T9A |
probably benign |
Het |
| Auh |
G |
A |
13: 53,083,421 (GRCm39) |
|
probably benign |
Het |
| B3gnt3 |
T |
C |
8: 72,145,567 (GRCm39) |
Y267C |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,894,279 (GRCm39) |
T117A |
possibly damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,898,301 (GRCm39) |
F15L |
possibly damaging |
Het |
| Chtf18 |
C |
T |
17: 25,942,434 (GRCm39) |
R468Q |
probably benign |
Het |
| Cntnap5c |
T |
G |
17: 58,666,295 (GRCm39) |
D1108E |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,272,359 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
C |
T |
9: 105,626,047 (GRCm39) |
|
probably benign |
Het |
| Col9a3 |
G |
A |
2: 180,251,280 (GRCm39) |
A317T |
possibly damaging |
Het |
| Cpt1c |
A |
T |
7: 44,609,256 (GRCm39) |
|
probably benign |
Het |
| Cpt2 |
A |
G |
4: 107,761,559 (GRCm39) |
|
probably null |
Het |
| Crebrf |
T |
A |
17: 26,982,308 (GRCm39) |
L565M |
probably damaging |
Het |
| Cyp2d41-ps |
T |
A |
15: 82,666,236 (GRCm39) |
|
noncoding transcript |
Het |
| Dhx9 |
C |
T |
1: 153,348,453 (GRCm39) |
V291M |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 50,011,149 (GRCm39) |
V1102E |
probably benign |
Het |
| Dnah7a |
A |
T |
1: 53,496,033 (GRCm39) |
|
probably null |
Het |
| Dock4 |
G |
A |
12: 40,787,359 (GRCm39) |
|
probably benign |
Het |
| Dpp3 |
G |
T |
19: 4,964,671 (GRCm39) |
N545K |
probably damaging |
Het |
| Elmo2 |
T |
A |
2: 165,140,646 (GRCm39) |
N275I |
probably damaging |
Het |
| Farp1 |
A |
G |
14: 121,492,925 (GRCm39) |
K509R |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,877,275 (GRCm39) |
Y3446C |
possibly damaging |
Het |
| Fgd2 |
T |
A |
17: 29,593,964 (GRCm39) |
|
probably benign |
Het |
| Flg |
T |
A |
3: 93,185,028 (GRCm39) |
|
probably benign |
Het |
| Gas2l2 |
A |
T |
11: 83,312,736 (GRCm39) |
W859R |
probably damaging |
Het |
| Gatm |
T |
C |
2: 122,431,225 (GRCm39) |
D254G |
probably damaging |
Het |
| Gjd4 |
T |
A |
18: 9,280,998 (GRCm39) |
I27F |
probably damaging |
Het |
| Gsdmc2 |
C |
A |
15: 63,699,604 (GRCm39) |
|
probably benign |
Het |
| Haus5 |
C |
T |
7: 30,353,605 (GRCm39) |
V591I |
probably benign |
Het |
| Kcnab3 |
G |
A |
11: 69,221,053 (GRCm39) |
|
probably null |
Het |
| Khdrbs2 |
A |
G |
1: 32,658,283 (GRCm39) |
D281G |
possibly damaging |
Het |
| Krt86 |
A |
T |
15: 101,375,283 (GRCm39) |
M393L |
probably benign |
Het |
| Limk1 |
T |
C |
5: 134,701,615 (GRCm39) |
Y96C |
probably damaging |
Het |
| Lrp2bp |
T |
A |
8: 46,466,192 (GRCm39) |
Y100* |
probably null |
Het |
| Mamstr |
T |
G |
7: 45,291,194 (GRCm39) |
|
probably benign |
Het |
| Man1a |
A |
G |
10: 53,795,283 (GRCm39) |
Y657H |
probably damaging |
Het |
| Marf1 |
G |
A |
16: 13,929,591 (GRCm39) |
P1672S |
possibly damaging |
Het |
| Mboat7 |
T |
C |
7: 3,686,817 (GRCm39) |
Y341C |
probably damaging |
Het |
| Nhsl1 |
A |
T |
10: 18,401,417 (GRCm39) |
N881I |
probably damaging |
Het |
| Nox3 |
T |
C |
17: 3,733,236 (GRCm39) |
Y225C |
probably benign |
Het |
| Or11g26 |
T |
A |
14: 50,753,596 (GRCm39) |
*312K |
probably null |
Het |
| Or4c109 |
C |
T |
2: 88,817,693 (GRCm39) |
M284I |
probably benign |
Het |
| Or4c35 |
C |
T |
2: 89,808,851 (GRCm39) |
T243I |
probably damaging |
Het |
| Or5b105 |
G |
A |
19: 13,080,642 (GRCm39) |
R3C |
possibly damaging |
Het |
| Or8k33 |
A |
G |
2: 86,383,976 (GRCm39) |
F164S |
probably damaging |
Het |
| Pcdhb13 |
A |
T |
18: 37,577,310 (GRCm39) |
M563L |
probably benign |
Het |
| Pclo |
C |
T |
5: 14,590,493 (GRCm39) |
T931M |
unknown |
Het |
| Peli2 |
C |
T |
14: 48,358,659 (GRCm39) |
P16S |
possibly damaging |
Het |
| Pfas |
G |
T |
11: 68,881,293 (GRCm39) |
R1025S |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,953,307 (GRCm39) |
I1196N |
probably damaging |
Het |
| Pmfbp1 |
A |
T |
8: 110,262,617 (GRCm39) |
|
probably benign |
Het |
| Prg4 |
T |
C |
1: 150,331,837 (GRCm39) |
T279A |
possibly damaging |
Het |
| Psma1 |
A |
T |
7: 113,866,440 (GRCm39) |
|
probably benign |
Het |
| Rab11fip1 |
A |
G |
8: 27,643,149 (GRCm39) |
L550P |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,122,664 (GRCm39) |
I149N |
probably damaging |
Het |
| Rmnd5a |
T |
C |
6: 71,376,215 (GRCm39) |
H195R |
probably damaging |
Het |
| Rnf17 |
T |
C |
14: 56,708,830 (GRCm39) |
L750P |
probably damaging |
Het |
| Rtcb |
T |
C |
10: 85,793,520 (GRCm39) |
N18D |
probably benign |
Het |
| Seh1l |
T |
C |
18: 67,925,086 (GRCm39) |
|
probably null |
Het |
| Sis |
T |
G |
3: 72,839,427 (GRCm39) |
N813T |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,795,405 (GRCm39) |
|
probably benign |
Het |
| Stag3 |
C |
T |
5: 138,281,285 (GRCm39) |
|
probably benign |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Taok3 |
C |
T |
5: 117,410,294 (GRCm39) |
Q829* |
probably null |
Het |
| Tnfrsf21 |
C |
T |
17: 43,349,104 (GRCm39) |
H239Y |
probably benign |
Het |
| Tsbp1 |
T |
C |
17: 34,679,095 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,781,886 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,091,940 (GRCm39) |
E1756G |
probably damaging |
Het |
| Usp35 |
A |
T |
7: 96,962,804 (GRCm39) |
|
probably null |
Het |
| Vmn2r111 |
A |
G |
17: 22,766,990 (GRCm39) |
F836L |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,451,146 (GRCm39) |
D344G |
possibly damaging |
Het |
| Zbtb40 |
A |
G |
4: 136,714,589 (GRCm39) |
C1067R |
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 |
|
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCCAACCCCAAAGAGTCATTGTG -3'
(R):5'- TTTTATCTGAACTGCCTGGAGGCAC -3'
Sequencing Primer
(F):5'- ACACCCTCATAGTGATGGGTC -3'
(R):5'- CTGGAGGCACTAGTGTATTTAGGA -3'
|
| Posted On |
2013-05-29 |
Incidental Mutation