|Institutional Source||Beutler Lab|
|Gene Name||prune homolog 2|
|Synonyms||A230083H22Rik, 6330414G02Rik, A330102H22Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R3086 (G1)|
|Chromosomal Location||16956118-17223932 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 17121413 bp|
|Amino Acid Change||Aspartic acid to Valine at position 1427 (D1427V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000084977 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000087689]|
|Predicted Effect||possibly damaging
AA Change: D1427V
PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: D1427V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||100% (42/42)|
|MGI Phenotype||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 B-cell CLL/lymphoma 2 and adenovirus E1B 19 kDa interacting family, whose members play roles in many cellular processes including apotosis, cell transformation, and synaptic function. Several functions for this protein have been demonstrated including suppression of Ras homolog family member A activity, which results in reduced stress fiber formation and suppression of oncogenic cellular transformation. A high molecular weight isoform of this protein has also been shown to colocalize with Adaptor protein complex 2, beta-Adaptin and endodermal markers, suggesting an involvement in post-endocytic trafficking. In prostate cancer cells, this gene acts as a tumor suppressor and its expression is regulated by prostate cancer antigen 3, a non-protein coding gene on the opposite DNA strand in an intron of this gene. Prostate cancer antigen 3 regulates levels of this gene through formation of a double-stranded RNA that undergoes adenosine deaminase actin on RNA-dependent adenosine-to-inosine RNA editing. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Prune2||
(F):5'- TCTTCTTCAGATGCATTTGAACACC -3'
(R):5'- TCACTATCCATCGGGCCATC -3'
(F):5'- GACATCTCCAGTGCATCAGG -3'
(R):5'- TCCCAAACACCAAAGTCTTGAGAAG -3'