|Institutional Source||Beutler Lab|
|Gene Name||complexin 2|
|Is this an essential gene?||Probably non essential (E-score: 0.077)|
|Stock #||R6642 (G1)|
|Chromosomal Location||54371349-54383917 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to T at 54378923 bp|
|Amino Acid Change||Arginine to Leucine at position 48 (R48L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026985 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026985]|
|Predicted Effect||probably damaging
AA Change: R48L
PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: R48L
|Coding Region Coverage||
|Validation Efficiency||100% (35/35)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Proteins encoded by the complexin/synaphin gene family are cytosolic proteins that function in synaptic vesicle exocytosis. These proteins bind syntaxin, part of the SNAP receptor. The protein product of this gene binds to the SNAP receptor complex and disrupts it, allowing transmitter release. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a variety of neurological abnormalities related to coordination, learning, and social interaction. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Cplx2||
(F):5'- TCGTCATGAAGCAAGCCCTC -3'
(R):5'- TGCGAAGACACTTGTTTTCCTG -3'
(F):5'- AGGTGAGCCTGCCACCTTTC -3'
(R):5'- CGAAGACACTTGTTTTCCTGATGAG -3'