|Institutional Source||Beutler Lab|
|Gene Name||synaptosomal-associated protein 25|
|Synonyms||Bdr, SNAP-25, GENA 70, sp|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4808 (G1)|
|Chromosomal Location||136713453-136782428 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 136770102 bp|
|Amino Acid Change||Aspartic acid to Glycine at position 70 (D70G)|
|Ref Sequence||ENSEMBL: ENSMUSP00000028727 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000028727] [ENSMUST00000110098]|
|Predicted Effect||probably damaging
AA Change: D70G
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D70G
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.34|
|Coding Region Coverage||
|Validation Efficiency||99% (71/72)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Synaptic vesicle membrane docking and fusion is mediated by SNAREs (soluble N-ethylmaleimide-sensitive factor attachment protein receptors) located on the vesicle membrane (v-SNAREs) and the target membrane (t-SNAREs). The assembled v-SNARE/t-SNARE complex consists of a bundle of four helices, one of which is supplied by v-SNARE and the other three by t-SNARE. For t-SNAREs on the plasma membrane, the protein syntaxin supplies one helix and the protein encoded by this gene contributes the other two. Therefore, this gene product is a presynaptic plasma membrane protein involved in the regulation of neurotransmitter release. Two alternative transcript variants encoding different protein isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation are small size, blotchy in appearance, have dilated vascular channels, and brain defects, lack spontaneous or reflexive movement and evoked neurotransmitter release at E18.5, and die at birth. An ENU-induced mutant displays neurological abnormalities. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Snap25||
(F):5'- GTACCAGCTCTAATCTGTGGC -3'
(R):5'- ATGCCACATGCTCATCCTG -3'
(F):5'- AGCTCTAATCTGTGGCGTCCAG -3'
(R):5'- TGCCTATGAGCCTGCAGGAATG -3'