Ager - SNV Details



 Gene Information 
Gene Name Ager
Gene Description advanced glycosylation end product-specific receptor [Source:MGI Symbol;Acc:MGI:893592]
MGI phenotype Mice homozygous for one knock-out allele exhibit abnormal skeleton morphology and physiology with abnormal blood vessel healing. Mice homozygous for another knock-out allele exhibit increased susceptibillity to STZ-induced diabetes.
Uniprot Name
CCDS Name
Gene GO
JAK-STAT cascade; positive regulation of inflammatory response; S100 protein binding; membrane; positive regulation of fibroblast migration; cytoplasm; positive regulation of apoptotic process; positive regulation of smooth muscle cell proliferation; positive regulation of NF-kappaB transcription factor activity; advanced glycation end-product receptor activity; response to hyperoxia; induction of positive chemotaxis; protein binding; neuronal cell body; neuron projection development; axon; lung development; basal plasma membrane; calcium ion homeostasis; extracellular space; brain development
Homolog in other species AGER
Omim http://omim.org/entry/600214
Immgen Expression
MEDIAN
Gnf Expression
MEDIAN(HIGH IN UMBLICALCORD, PLACENTA, LUNG)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000015452
Chromosome 17
Coordinate 34,599,118     (Assembly: GRCm38)    
Ref Base G
Codon Change gGa/gAa
Var Base A
Zygosity Heterozygous
Read Depth 19
Allele Frequency
G:R0.42
A:V0.58
Amino Acid Position 183
Amino Acid Change G->E (Glycine -> Glutamic acid)
Sample ID IGL02143
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 53 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved