Atp6v1c2 - SNV Details



 Gene Information 
Gene Name Atp6v1c2
Old Gene Names for Atp6v1c2 1110038g14rik
Gene Description ATPase, H+ transporting, lysosomal V1 subunit C2 [Source:MGI Symbol;Acc:MGI:1916025]
Uniprot Name
CCDS Name
Gene GO
hydrogen ion transmembrane transporter activity; lysosomal membrane; positive regulation of Wnt signaling pathway; proton-transporting V-type ATPase
V1 domain; hydrogen-exporting ATPase activity
phosphorylative mechanism; extracellular vesicular exosome; protein dimerization activity; ATP hydrolysis coupled proton transport
Homolog in other species ATP6V1C2
Immgen Expression
MEDIAN
Gnf Expression
LOW/MEDIAN(HIGH IN RETINA, KIDNEY, LIVER, SALIVARYGLAND, THYROID, GI GROUP, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN,SEPTUM..RESP.EPITH, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020566
Chromosome 12
Coordinate 17,289,121     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 21
Allele Frequency
C:R0.57
T:V0.43
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL03243
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0.66
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved