|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family B (MDR/TAP), member 4|
|Synonyms||Pgy-2, Mdr2, Pgy2, mdr-2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6006 (G1)|
|Chromosomal Location||8893717-8959231 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 8946026 bp|
|Amino Acid Change||Threonine to Lysine at position 894 (T894K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000003717 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000003717] [ENSMUST00000196067]|
|Predicted Effect||probably damaging
AA Change: T894K
PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
AA Change: T894K
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||Strain: 1857236
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcb4||
(F):5'- GTATTCGCTTCCATGAGCACC -3'
(R):5'- TTCCGAGCAGACACGTCTAAATG -3'
(F):5'- AGAGACTTAGCTACTCTACTGTGC -3'
(R):5'- TGCTCTCAAGGAACAGTAGC -3'