|Institutional Source||Beutler Lab|
|Gene Name||synapsin II|
|Synonyms||Synapsin IIb, 2900074L19Rik, Synapsin IIa|
|Is this an essential gene?||Probably non essential (E-score: 0.213)|
|Stock #||R8671 (G1)|
|Chromosomal Location||115134902-115282006 bp(+) (GRCm38)|
|Type of Mutation||nonsense|
|DNA Base Change (assembly)||C to A at 115278167 bp (GRCm38)|
|Amino Acid Change||Serine to Stop codon at position 480 (S480*)|
|Ref Sequence||ENSEMBL: ENSMUSP00000009538 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000009538] [ENSMUST00000169345] [ENSMUST00000203450]|
AA Change: S480*
AA Change: S480*
|Meta Mutation Damage Score||0.9756|
|Coding Region Coverage||
|Validation Efficiency||100% (48/48)|
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. This member of the synapsin family encodes a neuron-specific phosphoprotein that selectively binds to small synaptic vesicles in the presynaptic nerve terminal. Polymorphisms in this gene are associated with abnormal presynaptic function and related neuronal disorders, including autism, epilepsy, bipolar disorder and schizophrenia. Alternative splicing of this gene results in multiple transcript variants. The tissue inhibitor of metalloproteinase 4 gene is located within an intron of this gene and is transcribed in the opposite direction. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygous mutation of this gene results in central nervous system abnormalities. One model showed delayed synapse formation and decreased brain weight while another allele showed decreased post-tetanic potentiation and increased synaptic depression and development of convulsive seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Syn2||
(F):5'- AGCCTTGGGTAGCTACGTAC -3'
(R):5'- GAAGGAGCTGCTGGGTTATC -3'
(F):5'- GCCTTGGGTAGCTACGTACAATATC -3'
(R):5'- AGCTGCTGGGTTATCTTACTTGAGC -3'