|Institutional Source||Beutler Lab|
|Gene Name||argonaute RISC catalytic subunit 2|
|Synonyms||2310051F07Rik, argonaute 2, Eif2c2, 1110029L17Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5101 (G1)|
|Chromosomal Location||73095844-73184935 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 73119490 bp|
|Amino Acid Change||Valine to Alanine at position 533 (V533A)|
|Ref Sequence||ENSEMBL: ENSMUSP00000042207 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000044113]|
|Predicted Effect||probably damaging
AA Change: V533A
PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
AA Change: V533A
|Meta Mutation Damage Score||0.8956|
|Coding Region Coverage||
|Validation Efficiency||100% (57/57)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Argonaute family of proteins which play a role in RNA interference. The encoded protein is highly basic, and contains a PAZ domain and a PIWI domain. It may interact with dicer1 and play a role in short-interfering-RNA-mediated gene silencing. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygous null mice display embryonic lethality with neural tube defects, abnormal forebrain patterning, enlarged hearts, pericardial swelling, delayed development, and defects in the yolk sac and placenta. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Ago2||
(F):5'- TTAAGCCAGCTGGTGTATGC -3'
(R):5'- TGAGATGTGCTTCCCGGTTC -3'
(F):5'- CCAGCTGGTGTATGCATGGG -3'
(R):5'- TGCCTGGCAGTGCTAAAG -3'