Abcg2 - SNV Details



 Gene Information 
Gene Name Abcg2
Old Gene Names for Abcg2 Ai428558
Gene Description ATP-binding cassette, sub-family G (WHITE), member 2 [Source:MGI Symbol;Acc:MGI:1347061]
MGI phenotype Homozygous null mice exhibit extreme sensitivity to the dietary chlorophyll-catabolite pheophorbide a, resulting in severe phototoxic skin lesions upon light exposure. Mutants show a novel form of protoporphyria, associated with a 10-fold increase in erythrocyte levels of protoporphyrin IX.
Uniprot Name
CCDS Name
Gene GO
ATPase activity; membrane; integral to membrane; apical plasma membrane; embryonic process involved in female pregnancy; response to folic acid; drug transmembrane transport; drug transport; nucleoside-triphosphatase activity; response to glucocorticoid stimulus; xenobiotic-transporting ATPase activity; nucleus; protein dimerization activity; drug export; nucleotide binding; ATP binding; plasma membrane; drug transmembrane transporter activity
Homolog in other species ABCG2
Omim http://omim.org/entry/603756
Immgen Expression
MEDIAN(HIGH IN TGD GROUP, NK GROUP, T.8EFF.SP.OT1.D6.VSVOVA, T.4MEM.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN KIDNEY, LIVER, BLASTOCYSTS, GI GROUP)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000029802
Chromosome 6
Coordinate 58,683,321     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 57
Allele Frequency
T:R0.54
A:V0.46
Amino Acid Change Disrupted splicing
Splice Position 2
Sample ID IGL01654
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 36 Other Mutations

 Predictions 
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved