|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family C (CFTR/MRP), member 6|
|Synonyms||Mrp6, DCC, Dyscalc1|
|Essential gene?||Probably essential (E-score: 0.773)|
|Stock #||R7718 (G1)|
|Chromosomal Location||45967555-46030302 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 45977392 bp (GRCm38)|
|Amino Acid Change||Lysine to Glutamic Acid at position 1414 (K1414E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000002850 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000002850]|
AA Change: K1414E
PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: K1414E
|Meta Mutation Damage Score||0.1111|
|Coding Region Coverage||
|Validation Efficiency||99% (77/78)|
FUNCTION: The 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. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abcc6||
(F):5'- ACTTGCACACGTTCCATGTC -3'
(R):5'- GAAGACTTGGGTCCTCATGG -3'
(F):5'- CCCTGTGCACCACTGTCAG -3'
(R):5'- CTCATGGTGGGATGGGGAC -3'