Sstr5 - SNV Details



 Human Rare Diseases 
Acromegaly

 Gene Information 
Gene Name Sstr5
Old Gene Names for Sstr5 Smstr5
Gene Description somatostatin receptor 5 [Source:MGI Symbol;Acc:MGI:894282]
MGI phenotype Homozygotes for one null allele display decreased numbers of insulin positive cells in the pancreas. Homozygotes for a second null allele have normal pancreatic islet morphology but increased insulin secretion, decreased blood insulin and glucose levels, and improved glucose tolerance.
Uniprot Name
CCDS Name
Gene GO
somatostatin receptor activity; integral to membrane; cytoplasm; protein binding; adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway; G-protein coupled receptor signaling pathway; cellular response to glucocorticoid stimulus; plasma membrane; regulation of insulin secretion; glucose homeostasis
Homolog in other species SSTR5
Omim http://omim.org/entry/182455
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000050824
Chromosome 17
Coordinate 25,491,673     (Assembly: GRCm38)    
Ref Base A
Codon Change cTg/cAg
Var Base T
Zygosity Heterozygous
Read Depth 42
Allele Frequency
A:R0.45
T:V0.55
Amino Acid Position 194
Amino Acid Change L->Q (Leucine -> Glutamine)
Sample ID IGL02212
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 72 Other Mutations

 Predictions 
Polyphen Score 0.13
Polyphen Prediction Benign
Sift Score 0.15
Sift Prediction tolerated
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved