|Institutional Source||Beutler Lab|
|Gene Name||neuropilin 1|
|Synonyms||Neuropilin-1, NP-1, NPN-1, Npn1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2130 (G1)|
|Chromosomal Location||128358604-128503363 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 128498516 bp|
|Amino Acid Change||Glutamic Acid to Aspartic acid at position 782 (E782D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026917 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026917]|
|Predicted Effect||probably damaging
AA Change: E782D
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: E782D
|Meta Mutation Damage Score||0.0804|
|Coding Region Coverage||
|Validation Efficiency||94% (94/100)|
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||
|Other mutations in Nrp1||
(F):5'- TGCATGTTTGAATCATCTCTACCAC -3'
(R):5'- ATGAACTGACCTACATTTATCCCC -3'
(F):5'- CACTTCAACTGAGAGAGTG -3'
(R):5'- TTGAATTCTGGGCTAAATGACAAGGC -3'