|Institutional Source||Beutler Lab|
|Gene Name||poly(A)-specific ribonuclease (deadenylation nuclease)|
|Is this an essential gene?||Probably essential (E-score: 0.966)|
|Stock #||R2067 (G1)|
|Chromosomal Location||13537960-13668170 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 13603069 bp|
|Amino Acid Change||Serine to Leucine at position 473 (S473L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000055969 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000058884] [ENSMUST00000231003]|
|Predicted Effect||probably damaging
AA Change: S473L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: S473L
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.8538|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
|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 3'-exoribonuclease, with similarity to the RNase D family of 3'-exonucleases. It prefers poly(A) as the substrate, hence, efficiently degrades poly(A) tails of mRNAs. Exonucleolytic degradation of the poly(A) tail is often the first step in the decay of eukaryotic mRNAs. This protein is also involved in silencing of certain maternal mRNAs during oocyte maturation and early embryonic development, as well as in nonsense-mediated decay (NMD) of mRNAs that contain premature stop codons. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Parn||
(F):5'- AGACTAATGAATCAAAAGCTCATCTT -3'
(R):5'- GCCGGTCTTGAAGTTTTAACAGAA -3'
(F):5'- GCTGTCATAAAGGTGACC -3'
(R):5'- AAAGTTTTTGGTAAGTTGGGTAGTGC -3'