Incidental Mutation 'IGL02973:Ago2'
ID 365915
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ago2
Ensembl Gene ENSMUSG00000036698
Gene Name argonaute RISC catalytic subunit 2
Synonyms Eif2c2, 1110029L17Rik, argonaute 2, 2310051F07Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02973
Quality Score
Status
Chromosome 15
Chromosomal Location 72967693-73056777 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 72995314 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000042207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044113]
AlphaFold Q8CJG0
Predicted Effect probably benign
Transcript: ENSMUST00000044113
SMART Domains Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698

DomainStartEndE-ValueType
Pfam:ArgoN 29 167 1.7e-29 PFAM
DUF1785 176 228 2.98e-24 SMART
PAZ 236 371 3.11e-4 SMART
Pfam:ArgoL2 376 421 8.7e-16 PFAM
Pfam:ArgoMid 430 512 2.9e-35 PFAM
Piwi 518 819 1.36e-135 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230464
Coding Region Coverage
Validation Efficiency
MGI Phenotype 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
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,573,053 (GRCm39) L193P probably benign Het
Ankrd26 A G 6: 118,500,511 (GRCm39) S987P probably damaging Het
Ap2a2 T C 7: 141,211,277 (GRCm39) F938L possibly damaging Het
Arhgap35 A G 7: 16,296,803 (GRCm39) V754A possibly damaging Het
Atp10b A T 11: 43,088,336 (GRCm39) N314I probably damaging Het
Atp5f1a T C 18: 77,867,849 (GRCm39) V291A probably damaging Het
Ccm2 C A 11: 6,534,544 (GRCm39) P19T probably damaging Het
Cdc5l C A 17: 45,715,573 (GRCm39) A680S probably benign Het
Cds1 A G 5: 101,960,376 (GRCm39) T276A probably damaging Het
Cit A G 5: 116,144,058 (GRCm39) R1976G possibly damaging Het
Col6a5 T C 9: 105,803,020 (GRCm39) D1315G unknown Het
Emilin1 T G 5: 31,078,007 (GRCm39) L922R probably damaging Het
Fank1 T C 7: 133,478,578 (GRCm39) L213P probably damaging Het
Foxc2 T C 8: 121,844,788 (GRCm39) S479P probably benign Het
Golgb1 G A 16: 36,732,442 (GRCm39) R563H possibly damaging Het
Hoxb13 A G 11: 96,085,669 (GRCm39) Y134C probably damaging Het
Krtap4-16 A T 11: 99,742,167 (GRCm39) C78S possibly damaging Het
Lars1 C T 18: 42,347,824 (GRCm39) probably null Het
Lipe T C 7: 25,083,057 (GRCm39) N740S probably damaging Het
Mbd1 C T 18: 74,408,498 (GRCm39) probably benign Het
Mbd5 A G 2: 49,203,721 (GRCm39) D1700G probably damaging Het
Mpp7 A G 18: 7,403,297 (GRCm39) Y338H probably damaging Het
Pdgfrl A G 8: 41,438,631 (GRCm39) D189G probably damaging Het
Pira12 T C 7: 3,900,239 (GRCm39) Y121C probably damaging Het
Plxnc1 T C 10: 94,646,546 (GRCm39) N1293S probably damaging Het
Ppm1e C A 11: 87,131,488 (GRCm39) A302S probably damaging Het
Rassf8 A G 6: 145,762,916 (GRCm39) probably benign Het
Rttn T C 18: 88,990,618 (GRCm39) W52R probably damaging Het
Skint8 T C 4: 111,796,790 (GRCm39) V298A probably benign Het
Tulp1 A T 17: 28,577,516 (GRCm39) probably benign Het
Unc5c T A 3: 141,494,651 (GRCm39) D321E probably benign Het
Usp16 G A 16: 87,276,627 (GRCm39) C654Y probably damaging Het
Vwce G A 19: 10,632,764 (GRCm39) W575* probably null Het
Wdr89 T G 12: 75,679,873 (GRCm39) D127A probably damaging Het
Zc3h6 G A 2: 128,839,715 (GRCm39) R176Q probably damaging Het
Zfp942 A G 17: 22,151,972 (GRCm39) probably null Het
Other mutations in Ago2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ago2 APN 15 72,998,302 (GRCm39) missense probably benign 0.00
IGL01642:Ago2 APN 15 72,995,239 (GRCm39) missense probably benign 0.00
IGL02017:Ago2 APN 15 72,998,366 (GRCm39) missense probably benign 0.15
IGL02246:Ago2 APN 15 72,980,267 (GRCm39) missense probably damaging 1.00
IGL02434:Ago2 APN 15 72,992,930 (GRCm39) missense probably damaging 1.00
IGL02674:Ago2 APN 15 72,983,643 (GRCm39) missense probably damaging 1.00
IGL02686:Ago2 APN 15 72,985,591 (GRCm39) missense possibly damaging 0.95
IGL02716:Ago2 APN 15 72,983,576 (GRCm39) missense possibly damaging 0.94
IGL02751:Ago2 APN 15 73,002,746 (GRCm39) missense possibly damaging 0.76
IGL03188:Ago2 APN 15 72,995,182 (GRCm39) missense probably benign
PIT4791001:Ago2 UTSW 15 72,993,089 (GRCm39) missense possibly damaging 0.72
R0316:Ago2 UTSW 15 73,002,725 (GRCm39) missense probably damaging 0.99
R1382:Ago2 UTSW 15 72,998,889 (GRCm39) missense probably benign 0.35
R1509:Ago2 UTSW 15 72,988,213 (GRCm39) missense probably damaging 1.00
R1802:Ago2 UTSW 15 72,993,029 (GRCm39) missense probably damaging 1.00
R1848:Ago2 UTSW 15 72,995,814 (GRCm39) missense probably benign 0.02
R1930:Ago2 UTSW 15 72,991,204 (GRCm39) missense probably damaging 0.97
R2195:Ago2 UTSW 15 72,991,318 (GRCm39) missense probably benign 0.15
R2219:Ago2 UTSW 15 73,018,260 (GRCm39) missense probably benign
R2350:Ago2 UTSW 15 72,991,310 (GRCm39) missense probably benign 0.01
R2517:Ago2 UTSW 15 72,996,091 (GRCm39) missense possibly damaging 0.76
R3727:Ago2 UTSW 15 72,985,706 (GRCm39) missense probably damaging 1.00
R4614:Ago2 UTSW 15 73,002,816 (GRCm39) missense probably damaging 0.98
R4667:Ago2 UTSW 15 73,018,265 (GRCm39) missense probably damaging 1.00
R5101:Ago2 UTSW 15 72,991,339 (GRCm39) missense probably damaging 0.99
R5175:Ago2 UTSW 15 72,996,067 (GRCm39) missense possibly damaging 0.57
R5751:Ago2 UTSW 15 73,000,172 (GRCm39) critical splice donor site probably null
R5815:Ago2 UTSW 15 72,979,215 (GRCm39) critical splice acceptor site probably null
R6166:Ago2 UTSW 15 72,996,089 (GRCm39) missense probably benign 0.00
R6378:Ago2 UTSW 15 72,995,774 (GRCm39) missense probably benign
R6572:Ago2 UTSW 15 72,998,826 (GRCm39) missense probably benign 0.14
R6922:Ago2 UTSW 15 72,985,601 (GRCm39) missense probably benign 0.39
R7068:Ago2 UTSW 15 73,018,299 (GRCm39) missense probably damaging 1.00
R7447:Ago2 UTSW 15 73,009,881 (GRCm39) missense probably benign 0.35
R7449:Ago2 UTSW 15 73,018,348 (GRCm39) missense probably damaging 1.00
R7922:Ago2 UTSW 15 72,998,375 (GRCm39) missense possibly damaging 0.81
R8183:Ago2 UTSW 15 72,991,337 (GRCm39) nonsense probably null
R8271:Ago2 UTSW 15 72,991,315 (GRCm39) missense probably damaging 1.00
R8351:Ago2 UTSW 15 73,002,739 (GRCm39) missense probably damaging 1.00
R8451:Ago2 UTSW 15 73,002,739 (GRCm39) missense probably damaging 1.00
R9286:Ago2 UTSW 15 72,997,065 (GRCm39) missense probably damaging 1.00
R9726:Ago2 UTSW 15 72,998,919 (GRCm39) missense probably damaging 1.00
X0012:Ago2 UTSW 15 72,978,801 (GRCm39) missense probably benign 0.23
Posted On 2015-12-18