|Institutional Source||Beutler Lab|
|Gene Name||plexin A2|
|Synonyms||2810428A13Rik, OCT, PlexA2, Plxn2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R4855 (G1)|
|Chromosomal Location||194618218-194816869 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 194797732 bp|
|Amino Acid Change||Valine to Isoleucine at position 1404 (V1404I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027952 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027952]|
|Predicted Effect||probably benign
AA Change: V1404I
PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: V1404I
|Meta Mutation Damage Score||0.1252|
|Coding Region Coverage||
|Validation Efficiency||98% (93/95)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plexin-A family of semaphorin co-receptors. Semaphorins are a large family of secreted or membrane-bound proteins that mediate repulsive effects on axon pathfinding during nervous system development. A subset of semaphorins are recognized by plexin-A/neuropilin transmembrane receptor complexes, triggering a cellular signal transduction cascade that leads to axon repulsion. This plexin-A family member is thought to transduce signals from semaphorin-3A and -3C. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show abnormal granule cell migration in the adult cerebellum and aberrant projection of mossy fibers in hippocampal slices. Mice homozygous for an ENU-induced allele are smaller and show granule cell migration defects and mild ataxia with incomplete penetrance. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plxna2||
(F):5'- TGGAGAAAGCCCTGAAACTC -3'
(R):5'- TTTCCCAGGACCAGCAAAAG -3'
(F):5'- GAGAAAGCCCTGAAACTCTTCGC -3'
(R):5'- CCATCCTGGGCTGGTATAAAATC -3'