|Institutional Source||Beutler Lab|
|Gene Name||regulating synaptic membrane exocytosis 2|
|Synonyms||2810036I15Rik, Syt3-rs, RIM2|
|Essential gene?||Possibly essential (E-score: 0.626)|
|Stock #||R5054 (G1)|
|Chromosomal Location||39198261-39684372 bp(+) (GRCm38)|
|Type of Mutation||splice site (6495 bp from exon)|
|DNA Base Change (assembly)||A to T at 39517869 bp (GRCm38)|
|Amino Acid Change|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000042917] [ENSMUST00000082054] [ENSMUST00000227243]|
|Meta Mutation Damage Score||0.9755|
|Coding Region Coverage||
|Validation Efficiency||94% (67/71)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a presynaptic protein that interacts with RAB3, a protein important for normal neurotransmitter release. The encoded protein can also bind several other synaptic proteins, including UNC-13 homolog B, ELKS/Rab6-interacting/CAST family member 1, and synaptotagmin 1. This protein is involved in synaptic membrane exocytosis. Polymorphisms in this gene have been associated with degenerative lumbar scoliosis. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a knock-out allele show reduced body size, aberrant insulin granule exocytosis, and impaired secretion of hormones associated with glucose homeostasis. Mice homozygous for another knock-out allele show a slightly reduced body size, abnormal maternal behavior and premature death. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rims2||
(F):5'- GCCAAGATTTTCCAGTAGCAG -3'
(R):5'- TGATGGCATCTGTAATAGCTCTC -3'
(F):5'- GCCAAGATTTTCCAGTAGCAGTTTTC -3'
(R):5'- GATTCTAGTCCATCAAACAGA -3'