|Institutional Source||Beutler Lab|
|Gene Name||ATPase, aminophospholipid transporter-like, class I, type 8A, member 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.411)|
|Stock #||R6912 (G1)|
|Chromosomal Location||59638540-60197179 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 60012410 bp|
|Amino Acid Change||Serine to Leucine at position 544 (S544L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000079238 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000080368]|
|Predicted Effect||probably benign
AA Change: S544L
PolyPhen 2 Score 0.329 (Sensitivity: 0.90; Specificity: 0.89)
AA Change: S544L
|Coding Region Coverage||
|Validation Efficiency||100% (79/79)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the P4 ATPase family of proteins, which are thought to be involved in a process called lipid flipping, whereby phospholipids are translocated inwards from the exoplasmic leaflet to the cytosolic leaflet of the cell membrane, which aids in generating and maintaining asymmetry in membrane lipids. This protein is predicted to contain an E1 E2 ATPase, a haloacid dehalogenase-like hydrolase (HAD) domain, and multiple transmembrane domains. Associations between this protein and cell cycle control protein 50A are important for translocation of phosphatidylserine across membranes. Mutations in this gene have been associated with cerebellar ataxia, mental retardation and disequilibrium syndrome (CAMRQ). In addition, a translocation breakpoint within this gene was observed in an individual with neurological dysfunction. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Mice homozygotes for spontaneous mutations have abnormal gait and tremors, with axonal degeneration in central and peripheral neurons. Symptoms progress to immobility and death by 1-month of age. Heterozygotes show subtle locomotor abnormalities and are hyporesponsive to tail pinching. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp8a2||
(F):5'- AACCTGTGTTCCTAGTGGCTTG -3'
(R):5'- AGGCATCTGTCCATTTGGTAG -3'
(F):5'- CTAGTGGCTTGCTAGGACTGTC -3'
(R):5'- GATGGGTAAACTCTACTGTTGAAGC -3'