|Institutional Source||Beutler Lab|
|Synonyms||presynaptic cytomatrix protein|
|Is this an essential gene?||Possibly non essential (E-score: 0.401)|
|Stock #||R5796 (G1)|
|Chromosomal Location||108096022-108190384 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 108126024 bp|
|Amino Acid Change||Glycine to Aspartic acid at position 394 (G394D)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035208 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000035208]|
|Predicted Effect||probably damaging
AA Change: G394D
PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
AA Change: G394D
|Meta Mutation Damage Score||0.0748|
|Coding Region Coverage||
|Validation Efficiency||93% (51/55)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Neurotransmitters are released from a specific site in the axon terminal called the active zone, which is composed of synaptic vesicles and a meshwork of cytoskeleton underlying the plasma membrane. The protein encoded by this gene is thought to be a scaffolding protein involved in organizing the presynaptic cytoskeleton. The gene is expressed primarily in neurons in the brain. A similar gene product in rodents is concentrated in the active zone of axon terminals and tightly associated with cytoskeletal structures, and is essential for regulating neurotransmitter release from a subset of synapses. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants lacking functional protein exhibit impaired hippocampal and photoreceptor synaptic transmission, aberrant photoreceptor ribbon synapse formation, and spontaneous epileptic seizures. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Bsn||
(F):5'- TGCTACCCATGTTGAGCTC -3'
(R):5'- GCAAAAGTGCCACCACAGTG -3'
(F):5'- TACCCATGTTGAGCTCGGCTTG -3'
(R):5'- ACCACAGTGCCCTCTGG -3'