|Institutional Source||Beutler Lab|
|Gene Name||plexin C1|
|Synonyms||CD232, vespr, 2510048K12Rik|
|Is this an essential gene?||Possibly non essential (E-score: 0.332)|
|Stock #||R6052 (G1)|
|Chromosomal Location||94790866-94944835 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 94943773 bp|
|Amino Acid Change||Glutamine to Leucine at position 269 (Q269L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000096939 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000099337]|
|Predicted Effect||probably benign
AA Change: Q269L
PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
AA Change: Q269L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0667|
|Coding Region Coverage||
|Validation Efficiency||96% (80/83)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the plexin family. Plexins are transmembrane receptors for semaphorins, a large family of proteins that regulate axon guidance, cell motility and migration, and the immune response. The encoded protein and its ligand regulate melanocyte adhesion, and viral semaphorins may modulate the immune response by binding to this receptor. The encoded protein may be a tumor suppressor protein for melanoma. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal neuron morphology and migration. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Plxnc1||
(F):5'- TGGATCTCACTCATCCTGAAGAG -3'
(R):5'- GCTATCGCGCTCAAGAACAC -3'
(F):5'- TCACTCATCCTGAAGAGGCAGAG -3'
(R):5'- CGCTCAAGAACACGGAGG -3'