Incidental Mutation 'IGL01064:Abcb1a'

• ID: 51018
• Institutional Source: Australian Phenomics Network
• Gene Symbol: Abcb1a
• Ensembl Gene: ENSMUSG00000040584
• Gene Name: ATP-binding cassette, sub-family B (MDR/TAP), member 1A
• Synonyms: Pgp, mdr-3, Pgy-3, MDR3, P-glycoprotein, Evi32, P-gp, Mdr1a, Pgy3, multiple drug resistant 1a
• Essential gene?: Probably non essential (E-score: 0.141)
• Stock #: IGL01064
• Chromosome: 5
• Chromosomal Location: 8660077-8748575 bp(+) (GRCm38)
• Type of Mutation: missense
• DNA Base Change (assembly): T to C at 8732388 bp (GRCm38)
• Zygosity: Heterozygous
• Amino Acid Change: Tyrosine to Histidine at position 924 (Y924H)
• Ref Sequence: ENSEMBL: ENSMUSP00000041204
• Gene Model: predicted gene model for transcript(s): [ENSMUST00000047753]
• AlphaFold: P21447
• PDB Structure: Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION] ; Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION] ; Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION] ; Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION] ; Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION] ; Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION] ; Structure of Mouse P-Glycoprotein [X-RAY DIFFRACTION] ; Corrected Structure of Mouse P-glycoprotein [X-RAY DIFFRACTION] ; Corrected Structure of Mouse P-glycoprotein bound to QZ59-RRR [X-RAY DIFFRACTION] ; Corrected Structure of Mouse P-glycoprotein bound to QZ59-SSS [X-RAY DIFFRACTION] ; >> 5 additional structures at PDB <<
• Predicted Effect: possibly damaging; Transcript: ENSMUST00000047753; AA Change: Y924H; PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)
• SMART Domains: Protein: ENSMUSP00000041204; Gene: ENSMUSG00000040584; AA Change: Y924H

Domain	Start	End	E-Value	Type
low complexity region	16	30	N/A	INTRINSIC
Pfam:ABC_membrane	50	339	8.3e-97	PFAM
AAA	415	607	1.22e-20	SMART
Pfam:ABC_membrane	707	982	4.8e-79	PFAM
AAA	1058	1246	8.85e-18	SMART

• Predicted Effect: noncoding transcript; Transcript: ENSMUST00000126846
• Predicted Effect: noncoding transcript; Transcript: ENSMUST00000138138
• Predicted Effect: noncoding transcript; Transcript: ENSMUST00000199172
• MGI Phenotype: FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a p-glycoprotein which actively transports a variety of hydrophobic amphipathic drugs and plays a major role in the blood-brain barrier permeability of certain drugs. [provided by RefSeq, Jul 2008] ; PHENOTYPE: Mutations in this gene result in increased sensitivity to various drugs, including avermectins and vinblastine. Mice with a null allele develop spontanous colitis. [provided by MGI curators]
• Posted On: 2013-06-21