|Institutional Source||Beutler Lab|
|Gene Name||ATP-binding cassette, sub-family A (ABC1), member 2|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5837 (G1)|
|Chromosomal Location||25428703-25448540 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 25433359 bp|
|Amino Acid Change||Arginine to Glutamine at position 113 (R113Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000099983 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000102919]|
|Predicted Effect||probably benign
AA Change: R113Q
PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: R113Q
|Meta Mutation Damage Score||0.0976|
|Coding Region Coverage||
|Validation Efficiency||99% (72/73)|
|MGI Phenotype||Strain: 3697467; 3719855
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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure, [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Abca2||
(F):5'- TGGCTTCCTGCAATATGCCAAC -3'
(R):5'- GCCTCAAGCACACAGGTAAG -3'
(F):5'- TGCAATATGCCAACTCCACGTG -3'
(R):5'- CACAAGGTCCCAGAGTGATG -3'