|Institutional Source||Beutler Lab|
|Gene Name||acylphosphatase 2, muscle type|
|Is this an essential gene?||Probably non essential (E-score: 0.199)|
|Stock #||R5389 (G1)|
|Chromosomal Location||30505991-30649587 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 30506354 bp|
|Amino Acid Change||Glutamic Acid to Lysine at position 98 (E98K)|
|Ref Sequence||ENSEMBL: ENSMUSP00000074195 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000074613]|
|Predicted Effect||possibly damaging
AA Change: E98K
PolyPhen 2 Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: E98K
|Meta Mutation Damage Score||0.1234|
|Coding Region Coverage||
|Validation Efficiency||98% (65/66)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acylphosphatase can hydrolyze the phosphoenzyme intermediate of different membrane pumps, particularly the Ca2+/Mg2+-ATPase from sarcoplasmic reticulum of skeletal muscle. Two isoenzymes have been isolated, called muscle acylphosphatase and erythrocyte acylphosphatase on the basis of their tissue localization. This gene encodes the muscle-type isoform (MT). An increase of the MT isoform is associated with muscle differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Acyp2||
(F):5'- TTCTGCTTGCTAAAACATAGGTGAG -3'
(R):5'- AGCAAGGTAATACTGACCTTGAAG -3'
(F):5'- AGGTGAGTAAATGTTTTCAGTTTCAG -3'
(R):5'- GGTAATACTGACCTTGAAGAGTTTG -3'