|Institutional Source||Beutler Lab|
|Gene Name||synapsin III|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R8248 (G1)|
|Chromosomal Location||86055125-86498896 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 86135021 bp|
|Amino Acid Change||Isoleucine to Phenylalanine at position 246 (I246F)|
|Ref Sequence||ENSEMBL: ENSMUSP00000113720 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000120638]|
|Predicted Effect||probably benign
AA Change: I246F
PolyPhen 2 Score 0.133 (Sensitivity: 0.92; Specificity: 0.86)
AA Change: I246F
|Coding Region Coverage||
|Validation Efficiency||100% (60/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the synapsin gene family. Synapsins encode neuronal phosphoproteins which associate with the cytoplasmic surface of synaptic vesicles. Family members are characterized by common protein domains, and they are implicated in synaptogenesis and the modulation of neurotransmitter release, suggesting a potential role in several neuropsychiatric diseases. The protein encoded by this gene shares the synapsin family domain model, with domains A, C, and E exhibiting the highest degree of conservation. The protein contains a unique domain J, located between domains C and E. Based on this gene's localization to 22q12.3, a possible schizophrenia susceptibility locus, and the established neurobiological roles of the synapsins, this family member may represent a candidate gene for schizophrenia. The TIMP3 gene is located within an intron of this gene and is transcribed in the opposite direction. Alternative splicing of this gene results in multiple splice variants that encode different isoforms. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display altered neurotransmitter release, reduced synaptic depression, and a specific delay in early axon outgrowth in cultured hippocampal neurons. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Syn3||
(F):5'- ATTCAAGGTGATGTCCAGAGC -3'
(R):5'- ATAGCAGAGTGGCCTCCTAC -3'
(F):5'- CATGCGTGCAAGCTTACAG -3'
(R):5'- CTCCTACAGAGGGGGATCC -3'