Incidental Mutation 'R9691:Nrp1'
| ID |
729165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9691 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 129202650 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 545
(N545I)
|
| 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: N545I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000026917
Gene: ENSMUSG00000025810
AA Change: N545I
| 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: 99.7%
- 20x: 99.0%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahnak |
T |
C |
19: 8,989,090 (GRCm39) |
M3458T |
possibly damaging |
Het |
| Akap9 |
T |
G |
5: 4,010,491 (GRCm39) |
L398R |
probably damaging |
Het |
| Anks3 |
A |
T |
16: 4,759,840 (GRCm39) |
C635S |
probably benign |
Het |
| Ankzf1 |
C |
A |
1: 75,175,196 (GRCm39) |
Q649K |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,245,829 (GRCm39) |
E621G |
probably damaging |
Het |
| Bscl2 |
A |
G |
19: 8,817,110 (GRCm39) |
T13A |
probably benign |
Het |
| Cd109 |
T |
C |
9: 78,611,074 (GRCm39) |
L1230P |
possibly damaging |
Het |
| Celsr2 |
T |
A |
3: 108,301,551 (GRCm39) |
S2678C |
probably damaging |
Het |
| Cnot10 |
A |
G |
9: 114,420,715 (GRCm39) |
L709P |
probably damaging |
Het |
| Col5a1 |
G |
A |
2: 27,842,994 (GRCm39) |
R449Q |
unknown |
Het |
| Cyp3a25 |
T |
A |
5: 145,931,732 (GRCm39) |
E125D |
probably benign |
Het |
| Ddx50 |
T |
G |
10: 62,476,524 (GRCm39) |
I250L |
probably benign |
Het |
| Dnah10 |
A |
G |
5: 124,852,249 (GRCm39) |
N1859S |
probably damaging |
Het |
| Dnajc13 |
A |
G |
9: 104,042,211 (GRCm39) |
L2008P |
probably damaging |
Het |
| Dock4 |
C |
T |
12: 40,686,097 (GRCm39) |
L111F |
probably damaging |
Het |
| Ffar3 |
C |
G |
7: 30,555,119 (GRCm39) |
R67P |
probably damaging |
Het |
| Gdap2 |
C |
T |
3: 100,109,441 (GRCm39) |
A486V |
probably benign |
Het |
| Gm45871 |
G |
A |
18: 90,610,111 (GRCm39) |
V450M |
possibly damaging |
Het |
| Golgb1 |
T |
A |
16: 36,718,996 (GRCm39) |
S342T |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Grm5 |
T |
C |
7: 87,723,903 (GRCm39) |
I731T |
probably damaging |
Het |
| Gxylt2 |
A |
T |
6: 100,760,109 (GRCm39) |
T215S |
probably damaging |
Het |
| Jakmip2 |
A |
T |
18: 43,673,685 (GRCm39) |
I793N |
probably damaging |
Het |
| Kcnc1 |
C |
A |
7: 46,076,955 (GRCm39) |
C252* |
probably null |
Het |
| Kdr |
T |
A |
5: 76,129,521 (GRCm39) |
D122V |
probably damaging |
Het |
| Kmt2a |
G |
A |
9: 44,731,557 (GRCm39) |
P2920L |
unknown |
Het |
| Lrrc31 |
T |
C |
3: 30,741,617 (GRCm39) |
E264G |
probably damaging |
Het |
| Mbnl1 |
A |
G |
3: 60,529,614 (GRCm39) |
T256A |
probably benign |
Het |
| Myh3 |
A |
G |
11: 66,991,921 (GRCm39) |
E1822G |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,518,344 (GRCm39) |
N155S |
unknown |
Het |
| Negr1 |
T |
C |
3: 156,267,898 (GRCm39) |
C23R |
probably damaging |
Het |
| Nfia |
T |
A |
4: 97,671,465 (GRCm39) |
D58E |
probably damaging |
Het |
| Nrtn |
T |
A |
17: 57,059,480 (GRCm39) |
|
probably benign |
Het |
| Or2a14 |
A |
G |
6: 43,130,629 (GRCm39) |
H130R |
probably benign |
Het |
| Or4c100 |
T |
C |
2: 88,356,421 (GRCm39) |
F165L |
probably benign |
Het |
| Or5an11 |
C |
T |
19: 12,246,379 (GRCm39) |
R262* |
probably null |
Het |
| Pclo |
G |
A |
5: 14,727,558 (GRCm39) |
D2139N |
unknown |
Het |
| Phlpp1 |
C |
T |
1: 106,246,699 (GRCm39) |
Q630* |
probably null |
Het |
| Pkd1 |
T |
C |
17: 24,796,812 (GRCm39) |
V2429A |
possibly damaging |
Het |
| Pramel20 |
T |
A |
4: 143,299,328 (GRCm39) |
H330Q |
probably benign |
Het |
| Pramel30 |
T |
C |
4: 144,056,844 (GRCm39) |
L9P |
probably damaging |
Het |
| Prkch |
A |
G |
12: 73,805,730 (GRCm39) |
K502E |
probably damaging |
Het |
| Rad51ap2 |
A |
G |
12: 11,509,413 (GRCm39) |
K930E |
possibly damaging |
Het |
| Reep4 |
T |
A |
14: 70,785,683 (GRCm39) |
N204K |
probably benign |
Het |
| Rin2 |
T |
C |
2: 145,690,764 (GRCm39) |
L144P |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,691,611 (GRCm39) |
S224G |
possibly damaging |
Het |
| Srprb |
A |
G |
9: 103,069,481 (GRCm39) |
Y158H |
probably damaging |
Het |
| Thbs4 |
T |
A |
13: 92,890,896 (GRCm39) |
H857L |
probably damaging |
Het |
| Tmem184a |
A |
G |
5: 139,798,790 (GRCm39) |
L77P |
possibly damaging |
Het |
| Trbv26 |
G |
T |
6: 41,204,478 (GRCm39) |
C7F |
probably benign |
Het |
| Trip11 |
A |
G |
12: 101,850,123 (GRCm39) |
S1314P |
probably benign |
Het |
| Ttc28 |
A |
T |
5: 111,431,879 (GRCm39) |
T1951S |
probably benign |
Het |
| Ttc29 |
A |
C |
8: 78,972,895 (GRCm39) |
D115A |
possibly damaging |
Het |
| Upf2 |
G |
A |
2: 6,032,024 (GRCm39) |
V857I |
unknown |
Het |
| Vmn2r43 |
A |
G |
7: 8,247,787 (GRCm39) |
V792A |
probably damaging |
Het |
| Washc5 |
A |
T |
15: 59,218,706 (GRCm39) |
I687N |
probably damaging |
Het |
| Wwc2 |
G |
A |
8: 48,281,799 (GRCm39) |
|
probably benign |
Het |
| Xirp2 |
G |
A |
2: 67,340,539 (GRCm39) |
E927K |
possibly damaging |
Het |
| Zc3hav1l |
A |
G |
6: 38,276,112 (GRCm39) |
F22L |
probably benign |
Het |
| Zfp407 |
C |
T |
18: 84,578,312 (GRCm39) |
A934T |
probably benign |
Het |
| Zfp986 |
T |
A |
4: 145,626,070 (GRCm39) |
S243R |
probably benign |
Het |
| Zfyve9 |
T |
C |
4: 108,576,305 (GRCm39) |
T259A |
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 |
|
|
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 |
|
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'- GCATACCACCATTCCCAACTTT -3'
(R):5'- GGAAAGGGTGGCAGTTTTACC -3'
Sequencing Primer
(F):5'- AACTTTCTTTTACCTGTATTCTGGAG -3'
(R):5'- GGCAGTTTTACCACAGTACAGTCAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation