|Institutional Source||Beutler Lab|
|Gene Name||ATPase, Ca++ transporting, cardiac muscle, fast twitch 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R0121 (G1)|
|Chromosomal Location||126445858-126463108 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 126457944 bp|
|Amino Acid Change||Serine to Proline at position 170 (S170P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000032974 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000032974]|
|Predicted Effect||probably damaging
AA Change: S170P
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: S170P
|Meta Mutation Damage Score||0.6447|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Oct 2013]
PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality. Mutant neonates display respiratory distress, progressive cyanosis, and die within 30 minutes-2 hours after birth. Lung tissues and the diaphragm muscle show aberrant morphology. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Atp2a1||
(F):5'- GCCATGCCACACTGATAATGCTACC -3'
(R):5'- CAGCCAGTGGGAAGAGACACATTC -3'
(F):5'- CACTGATAATGCTACCTTAGAAGCAG -3'
(R):5'- CACATTCAATGTCGGACAATGG -3'