|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 #||R0940 (G1)|
|Chromosomal Location||194618218-194816869 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 194800555 bp|
|Amino Acid Change||Valine to Isoleucine at position 1519 (V1519I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000027952 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000027952]|
Plexin A2 / Semaphorin 6A complex [X-RAY DIFFRACTION]
Mouse Plexin A2 extracellular domain [X-RAY DIFFRACTION]
Mouse Plexin A2, extracellular domains 1-4 [X-RAY DIFFRACTION]
Plexin A2 in complex with Semaphorin 6A [X-RAY DIFFRACTION]
Complex of mouse Plexin A2 - Semaphorin 3A - Neuropilin-1 [X-RAY DIFFRACTION]
|Predicted Effect||probably benign
AA Change: V1519I
PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
AA Change: V1519I
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (68/68)|
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'- GCAAGTAAGGCCAGCACTTGACAC -3'
(R):5'- AGCTGTCTTGGAAGCCATGCTC -3'
(F):5'- GGCTTCAGCTCCTACAATAGATG -3'
(R):5'- GAAGCCATGCTCCCCTC -3'