|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family C (CFTR/MRP), member 2|
|Synonyms||multidrug resistance protein 2, Cmoat, Mrp2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6014 (G1)|
|Chromosomal Location||43782192-43840740 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 43826735 bp|
|Amino Acid Change||Glutamine to Leucine at position 1187 (Q1187L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000026208 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000026208]|
|Predicted Effect||probably benign
AA Change: Q1187L
PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
AA Change: Q1187L
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (67/67)|
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 MRP subfamily which is involved in multi-drug resistance. This protein functions in the canalicular surface of the hepatocyte and in biliary transport, and appears to contribute to drug resistance in mammalian cells. Several different mutations in the human gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. Alternative splice variants have been observed for this gene; however, they have not been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcc2||
(F):5'- GAAGGGGACTGTCACTAACTG -3'
(R):5'- TCTGTAACTCCAAAGTCCGTAC -3'
(F):5'- CACTAACTGACTCTTGGTTTTTGAG -3'
(R):5'- CTATTTACATAGCTTGATAGGTCGTG -3'