Rims2 - SNV Details



 Gene Information 
Gene Name Rims2
Old Gene Names for Rims2 2810036i15rik , Aw048769 , Syt3-rs
Gene Description regulating synaptic membrane exocytosis 2 [Source:MGI Symbol;Acc:MGI:2152972]
MGI 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.
Uniprot Name
CCDS Name
Gene GO
calcium ion-dependent exocytosis of neurotransmitter; metal ion binding; protein complex; protein binding; synapse; ion channel binding; intracellular protein transport; cell junction; cAMP-mediated signaling; protein domain specific binding; insulin secretion; regulation of exocytosis; calcium ion-dependent exocytosis; Rab GTPase binding; neuron projection; regulation of membrane potential; protein heterodimerization activity
Homolog in other species RIMS2
Omim http://omim.org/entry/606630
Immgen Expression
LOW
Gnf Expression
MEDIAN
MEDIAN(HIGH IN CEREBELLUM)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037386
Chromosome 15
Coordinate 39,535,903     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 29
Allele Frequency
A:R0.66
G:V0.31
Amino Acid Change S->G (Serine -> Glycine)
Sample ID IGL03080
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability