Sytl2 - SNV Details



 Gene Information 
Gene Name Sytl2
Old Gene Names for Sytl2 Ai266830
Gene Description synaptotagmin-like 2 [Source:MGI Symbol;Acc:MGI:1933366]
MGI phenotype Mice homozygous for a null allele display abnormal gastric surface mucus cell morphology and reduced basal mucin secretion from gastric cells
Uniprot Name
CCDS Name
Gene GO
extrinsic to plasma membrane; melanosome; membrane; exocytic vesicle; cytoplasm; negative regulation of phosphatase activity; protein binding; phosphatase binding; intracellular protein transport; nucleus; phosphatidylserine binding; positive regulation of mucus secretion; melanosome membrane; vesicle docking involved in exocytosis; neurexin family protein binding; phosphatidylinositol-4
5-bisphosphate binding; Rab GTPase binding; plasma membrane; exocytosis; Golgi apparatus
Homolog in other species SYTL2
Omim http://omim.org/entry/612880
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, ABT GROUP, TACTIVATION GROUP, NK GROUP,MO.6C+II-.LN, B.FO.SP, B.MZ.SP, B1A.PC)
Gnf Expression
MEDIAN/HIGH(LOWER IN PANCREAS, KIDNEY, LIVER, BROWNFAT, SPLEEN, IMM.G2, THYROID, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000030616
Chromosome 7
Coordinate 90,401,410     (Assembly: GRCm38)    
Ref Base A
Codon Change Agg/Ggg
Var Base G
Zygosity Heterozygous
Read Depth 19
Allele Frequency
A:R0.53
G:V0.47
Amino Acid Position 706
Amino Acid Change R->G (Arginine -> Glycine)
Sample ID IGL00657
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 14 Other Mutations

 Predictions 
Polyphen Score 0.9
Polyphen Prediction Possibly damaging
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved