|Institutional Source||Beutler Lab|
|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|
|Is this an essential gene?||Probably non essential (E-score: 0.141)|
|Stock #||R1292 (G1)|
|Chromosomal Location||8660077-8748575 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 8713343 bp|
|Amino Acid Change||Threonine to Serine at position 624 (T624S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000041204 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047753]|
|Predicted Effect||probably benign
AA Change: T624S
PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
AA Change: T624S
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||97% (31/32)|
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]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcb1a||
(F):5'- AAGGCCGGACCACCATTGTGATAG -3'
(R):5'- TGCAGCAGTCCTCTGATGAGTCTC -3'
(F):5'- GACCACCATTGTGATAGCTCATC -3'
(R):5'- TCAAGTCACGGTACAGAGCTTC -3'