Incidental Mutation 'R2047:Nrp1'
| ID |
222121 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nrp1
|
| Ensembl Gene |
ENSMUSG00000025810 |
| Gene Name |
neuropilin 1 |
| Synonyms |
NP-1, Neuropilin-1, Npn1, NPN-1 |
| MMRRC Submission |
040054-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2047 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
129085085-129229844 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
G to A
at 129224577 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: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (57/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
A |
G |
7: 130,747,836 (GRCm39) |
F52S |
probably damaging |
Het |
| Acot12 |
T |
C |
13: 91,931,122 (GRCm39) |
S457P |
probably damaging |
Het |
| Adcy5 |
G |
A |
16: 35,110,478 (GRCm39) |
V882M |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,991,664 (GRCm39) |
D4316G |
possibly damaging |
Het |
| Aldh1l2 |
G |
A |
10: 83,342,607 (GRCm39) |
A401V |
probably damaging |
Het |
| Apol7e |
A |
G |
15: 77,601,810 (GRCm39) |
H136R |
probably benign |
Het |
| Arl5a |
A |
G |
2: 52,302,072 (GRCm39) |
|
probably null |
Het |
| Asns |
G |
T |
6: 7,680,093 (GRCm39) |
A341E |
probably damaging |
Het |
| C7 |
A |
G |
15: 5,075,143 (GRCm39) |
L183P |
probably damaging |
Het |
| Cacng2 |
C |
T |
15: 78,003,037 (GRCm39) |
A19T |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,575 (GRCm39) |
N374S |
probably benign |
Het |
| Ccr4 |
A |
G |
9: 114,321,633 (GRCm39) |
F144S |
probably damaging |
Het |
| Ckap2 |
A |
G |
8: 22,658,763 (GRCm39) |
V660A |
probably benign |
Het |
| Cramp1 |
A |
T |
17: 25,222,189 (GRCm39) |
Y176* |
probably null |
Het |
| Dgki |
A |
G |
6: 36,890,581 (GRCm39) |
S922P |
possibly damaging |
Het |
| Drd5 |
C |
T |
5: 38,477,679 (GRCm39) |
S224L |
probably damaging |
Het |
| Ei24 |
T |
C |
9: 36,691,459 (GRCm39) |
K341E |
probably benign |
Het |
| Eno2 |
A |
T |
6: 124,744,659 (GRCm39) |
|
probably benign |
Het |
| Epb41l4a |
T |
C |
18: 33,961,259 (GRCm39) |
N425S |
probably benign |
Het |
| F13b |
T |
G |
1: 139,435,961 (GRCm39) |
C256G |
probably damaging |
Het |
| Gp6 |
A |
T |
7: 4,376,270 (GRCm39) |
|
probably benign |
Het |
| H2-Q7 |
A |
T |
17: 35,659,123 (GRCm39) |
R191S |
probably damaging |
Het |
| Ivns1abp |
T |
A |
1: 151,227,382 (GRCm39) |
S63R |
possibly damaging |
Het |
| Kcnj16 |
A |
G |
11: 110,915,946 (GRCm39) |
|
probably null |
Het |
| Lpcat4 |
T |
C |
2: 112,075,142 (GRCm39) |
|
probably null |
Het |
| Lrrc14b |
T |
C |
13: 74,511,561 (GRCm39) |
K173R |
probably benign |
Het |
| Maml3 |
C |
A |
3: 51,597,866 (GRCm39) |
R939S |
probably damaging |
Het |
| Mrgpra2b |
C |
T |
7: 47,113,908 (GRCm39) |
V249I |
probably benign |
Het |
| Mrpl46 |
T |
A |
7: 78,431,312 (GRCm39) |
Y82F |
probably damaging |
Het |
| Mthfs |
T |
A |
9: 89,097,356 (GRCm39) |
I71N |
probably damaging |
Het |
| Nectin4 |
T |
C |
1: 171,212,720 (GRCm39) |
V351A |
possibly damaging |
Het |
| Npas3 |
T |
C |
12: 54,115,612 (GRCm39) |
F827L |
probably damaging |
Het |
| Ocln |
C |
A |
13: 100,671,632 (GRCm39) |
A242S |
probably damaging |
Het |
| Or10ad1c |
T |
A |
15: 98,084,920 (GRCm39) |
T253S |
probably damaging |
Het |
| Or13g1 |
G |
A |
7: 85,956,012 (GRCm39) |
T103I |
probably damaging |
Het |
| Or5d37 |
A |
T |
2: 87,924,237 (GRCm39) |
N14K |
probably benign |
Het |
| Pappa |
T |
C |
4: 65,149,378 (GRCm39) |
|
probably benign |
Het |
| Ptpn6 |
T |
C |
6: 124,698,752 (GRCm39) |
T480A |
probably benign |
Het |
| Pycr1 |
A |
T |
11: 120,532,512 (GRCm39) |
D168E |
possibly damaging |
Het |
| Rnf6 |
T |
C |
5: 146,148,674 (GRCm39) |
T126A |
probably damaging |
Het |
| Slc25a39 |
G |
A |
11: 102,296,657 (GRCm39) |
|
probably benign |
Het |
| Slc35f4 |
G |
T |
14: 49,541,029 (GRCm39) |
|
probably benign |
Het |
| Sppl2a |
C |
T |
2: 126,768,772 (GRCm39) |
A112T |
probably damaging |
Het |
| Sptbn1 |
A |
C |
11: 30,088,360 (GRCm39) |
|
probably benign |
Het |
| Sqle |
T |
C |
15: 59,197,907 (GRCm39) |
Y376H |
probably benign |
Het |
| Terb1 |
A |
T |
8: 105,212,094 (GRCm39) |
Y296N |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,579,397 (GRCm39) |
H506R |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,737,879 (GRCm39) |
D4220G |
probably benign |
Het |
| Tub |
A |
G |
7: 108,625,939 (GRCm39) |
D230G |
probably benign |
Het |
| Ube2d3 |
T |
A |
3: 135,170,967 (GRCm39) |
I137K |
probably benign |
Het |
| Vldlr |
G |
T |
19: 27,212,238 (GRCm39) |
C84F |
probably damaging |
Het |
| Vmn1r54 |
A |
T |
6: 90,246,970 (GRCm39) |
I295F |
probably damaging |
Het |
| Vmn2r56 |
A |
G |
7: 12,466,918 (GRCm39) |
S39P |
probably damaging |
Het |
| Zfp358 |
A |
G |
8: 3,545,934 (GRCm39) |
H172R |
probably damaging |
Het |
| Zfp619 |
T |
C |
7: 39,187,062 (GRCm39) |
C1031R |
probably damaging |
Het |
| Zfp777 |
A |
G |
6: 48,021,280 (GRCm39) |
I114T |
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 |
|
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'- TGGTATCACATGTCCGGCTC -3'
(R):5'- TGGTAGAGATGATTCAAACATGCAG -3'
Sequencing Primer
(F):5'- ACATGTCCGGCTCTCATGTGG -3'
(R):5'- CAAAAGGGATGCTATCTATGACATC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation