|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family B (MDR/TAP), member 1B|
|Synonyms||Pgy-1, Abcb1, Mdr1, mdr, Pgy1, Mdr1b|
|Is this an essential gene?||Possibly non essential (E-score: 0.389)|
|Stock #||R8387 (G1)|
|Chromosomal Location||8798147-8866315 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 8824698 bp|
|Amino Acid Change||Aspartic acid to Asparagine at position 453 (D453N)|
|Ref Sequence||ENSEMBL: ENSMUSP00000009058 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000009058] [ENSMUST00000199955]|
|Predicted Effect||probably damaging
AA Change: D453N
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: D453N
|Predicted Effect||noncoding transcript
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.3906|
|Coding Region Coverage||
|Validation Efficiency||98% (46/47)|
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. This gene encodes a membrane glycoprotein which confers a multidrug-resistance phenotype. The protein encoded by the human gene is an ATP-dependent drug efflux pump for xenobiotic compounds which is responsible for decreased drug accumulation in multidrug-resistant cells and mediates the development of resistance to anticancer drugs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are hypersensitive to effects of drugs transported by phosphoglycoproteins. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcb1b||
(F):5'- GAAGGGCCTCAATCTGAAGG -3'
(R):5'- TGATGAAGTCATAGGCATTGGC -3'
(F):5'- CCTCAATCTGAAGGTGAAGAGC -3'
(R):5'- CATAGGCATTGGCTTCCTTGACAG -3'