|Institutional Source||Beutler Lab|
|Gene Name||ATPase, Ca++ transporting, plasma membrane 1|
|Synonyms||PMCA1, 2810442I22Rik, E130111D10Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R3762 (G1)|
|Chromosomal Location||98914406-99026143 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 99009489 bp|
|Amino Acid Change||Isoleucine to Threonine at position 718 (I718T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000020107 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020107]|
|Predicted Effect||probably damaging
AA Change: I718T
PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
AA Change: I718T
AA Change: I137T
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enzymes remove bivalent calcium ions from eukaryotic cells against very large concentration gradients and play a critical role in intracellular calcium homeostasis. The mammalian plasma membrane calcium ATPase isoforms are encoded by at least four separate genes and the diversity of these enzymes is further increased by alternative splicing of transcripts. The expression of different isoforms and splice variants is regulated in a developmental, tissue- and cell type-specific manner, suggesting that these pumps are functionally adapted to the physiological needs of particular cells and tissues. This gene encodes the plasma membrane calcium ATPase isoform 1. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display embryonic lethality. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp2b1||
(F):5'- TGGACATCTTGAGATCAATGTGTC -3'
(R):5'- GAGGCATGGACCCTAACAAC -3'
(F):5'- CATCTTGAGATCAATGTGTCAGTTG -3'
(R):5'- GAGGCATGGACCCTAACAACAAATG -3'