|Institutional Source||Beutler Lab|
|Gene Name||prune exopolyphosphatase|
|Synonyms||9230112O05Rik, Prune-M1, Prune|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4050 (G1)|
|Chromosomal Location||95253674-95282076 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 95262231 bp|
|Amino Acid Change||Lysine to Arginine at position 220 (K220R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000015855 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000015855]|
|Predicted Effect||possibly damaging
AA Change: K220R
PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
AA Change: K220R
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.214|
|Coding Region Coverage||
|Validation Efficiency||97% (58/60)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DHH protein superfamily of phosphoesterases. This protein has been found to function as both a nucleotide phosphodiesterase and an exopolyphosphatase. This protein is believed to stimulate cancer progression and metastases through the induction of cell motility. A pseuodgene has been identified on chromosome 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit a flattened pancake appearance at E9. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prune1||
(F):5'- TCTCCTATCTAGTGAAAAGGGTTG -3'
(R):5'- TGGAGGGTTCACTCACACAC -3'
(F):5'- GGAGCAAAGACCGGCTATAATCC -3'
(R):5'- GAGGGTTCACTCACACACAGGAC -3'