|Institutional Source||Beutler Lab|
|Gene Name||pyrophosphatase (inorganic) 1|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R2394 (G1)|
|Chromosomal Location||61648552-61674168 bp(+) (GRCm38)|
|Type of Mutation||splice site|
|DNA Base Change (assembly)||A to G at 61672384 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000020286 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000020286]|
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.0898|
|Coding Region Coverage||
|Validation Efficiency||100% (41/41)|
|MGI Phenotype||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 inorganic pyrophosphatase (PPase) family. PPases catalyze the hydrolysis of pyrophosphate to inorganic phosphate, which is important for the phosphate metabolism of cells. Studies of a similar protein in bovine suggested a cytoplasmic localization of this enzyme. [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ppa1||
(F):5'- TCCCTAAGAGGCTCGAATCCA -3'
(R):5'- CACATCTACATCAATCTACCCTCCTG -3'
(F):5'- TGTACGTGGTGCACATACAC -3'
(R):5'- TGTGAGGGGATACATTTCCTAAC -3'