Incidental Mutation 'R1509:Ago2'
ID 168174
Institutional Source Beutler Lab
Gene Symbol Ago2
Ensembl Gene ENSMUSG00000036698
Gene Name argonaute RISC catalytic subunit 2
Synonyms Eif2c2, 1110029L17Rik, argonaute 2, 2310051F07Rik
MMRRC Submission 039556-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1509 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 72967693-73056777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 72988213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 594 (F594S)
Ref Sequence ENSEMBL: ENSMUSP00000042207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044113]
AlphaFold Q8CJG0
Predicted Effect probably damaging
Transcript: ENSMUST00000044113
AA Change: F594S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: F594S

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: ENSMUST00000230158
Meta Mutation Damage Score 0.9667 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 99% (89/90)
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,340,766 (GRCm39) S132P probably benign Het
AC153895.1 T C 6: 50,020,451 (GRCm39) R54G unknown Het
Acot12 G A 13: 91,919,994 (GRCm39) probably null Het
Adhfe1 T A 1: 9,623,671 (GRCm39) D98E probably benign Het
Aldh18a1 A G 19: 40,545,927 (GRCm39) I620T probably damaging Het
Aspscr1 C A 11: 120,592,342 (GRCm39) A294D probably damaging Het
Bod1l C G 5: 41,976,883 (GRCm39) R1477T probably damaging Het
Ccdc18 C A 5: 108,336,844 (GRCm39) A741D possibly damaging Het
Ces4a G A 8: 105,864,729 (GRCm39) G69S probably damaging Het
Cfap52 C T 11: 67,829,819 (GRCm39) V317I probably benign Het
Cgn A T 3: 94,681,568 (GRCm39) L509Q probably benign Het
Crb2 A G 2: 37,676,631 (GRCm39) H204R probably benign Het
Cspg4b A G 13: 113,504,790 (GRCm39) N431S probably damaging Het
Ddx39a G A 8: 84,446,527 (GRCm39) V99M probably damaging Het
Dis3l2 T A 1: 86,948,808 (GRCm39) C582S possibly damaging Het
Dmbt1 G A 7: 130,676,061 (GRCm39) probably benign Het
Dnah6 T C 6: 73,004,425 (GRCm39) E3846G probably damaging Het
Dstyk A G 1: 132,384,084 (GRCm39) E655G probably damaging Het
Epha4 T C 1: 77,357,523 (GRCm39) Y825C probably damaging Het
Esp36 T A 17: 38,728,173 (GRCm39) N36I probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fem1c A G 18: 46,657,280 (GRCm39) S145P probably benign Het
Galnt13 T C 2: 54,623,094 (GRCm39) I80T probably damaging Het
Gm5698 T C 1: 31,016,728 (GRCm39) T108A probably benign Het
Hipk3 A G 2: 104,271,607 (GRCm39) S442P probably benign Het
Hmcn2 T A 2: 31,204,491 (GRCm39) V22D possibly damaging Het
Hspg2 C T 4: 137,238,552 (GRCm39) probably benign Het
Ide A G 19: 37,262,603 (GRCm39) probably null Het
Ifnar1 C A 16: 91,300,384 (GRCm39) P462Q probably damaging Het
Itgb2l T A 16: 96,228,049 (GRCm39) I485F probably benign Het
Jakmip3 C T 7: 138,629,505 (GRCm39) R549W possibly damaging Het
Lrrc36 A G 8: 106,187,761 (GRCm39) Q680R probably damaging Het
Lysmd3 T G 13: 81,817,390 (GRCm39) H122Q probably benign Het
Macf1 C A 4: 123,577,802 (GRCm39) V61L possibly damaging Het
Map1b T C 13: 99,568,036 (GRCm39) T1562A unknown Het
Map3k20 A T 2: 72,194,968 (GRCm39) probably benign Het
Mroh8 A G 2: 157,075,125 (GRCm39) V457A probably benign Het
Mrpl40 T A 16: 18,694,159 (GRCm39) probably null Het
Ms4a10 C T 19: 10,941,472 (GRCm39) V166I probably benign Het
Mycl A G 4: 122,894,100 (GRCm39) D300G probably damaging Het
Naca T A 10: 127,879,266 (GRCm39) probably benign Het
Ncoa4 T C 14: 31,895,391 (GRCm39) S172P probably damaging Het
Nfatc3 T C 8: 106,810,486 (GRCm39) F421L possibly damaging Het
Nucb1 C A 7: 45,144,649 (GRCm39) K301N probably benign Het
Or1af1 A G 2: 37,109,966 (GRCm39) H155R probably damaging Het
Or52ae9 A T 7: 103,390,243 (GRCm39) M68K probably benign Het
Or5b99 T A 19: 12,976,815 (GRCm39) I155N possibly damaging Het
Panx1 A T 9: 14,921,341 (GRCm39) V178E possibly damaging Het
Pkd1l3 G A 8: 110,367,402 (GRCm39) V1210I probably damaging Het
Polr2a A T 11: 69,638,039 (GRCm39) H143Q possibly damaging Het
Potefam1 A T 2: 111,048,972 (GRCm39) M269K probably benign Het
Prdm12 G A 2: 31,544,186 (GRCm39) R263H probably damaging Het
Prkdc A C 16: 15,549,430 (GRCm39) K1998T probably damaging Het
Rab11fip1 A T 8: 27,643,051 (GRCm39) S583T probably damaging Het
Rnf157 T A 11: 116,237,921 (GRCm39) T567S probably benign Het
Rp1 T C 1: 4,417,917 (GRCm39) K1065R probably damaging Het
Rp1 A G 1: 4,418,760 (GRCm39) I784T probably benign Het
Rps10 A C 17: 27,850,182 (GRCm39) F150V probably benign Het
Rrp12 A T 19: 41,870,639 (GRCm39) F499I probably damaging Het
Sez6l2 G A 7: 126,562,535 (GRCm39) R604H probably damaging Het
Slc25a21 G T 12: 56,904,864 (GRCm39) Q57K probably benign Het
Slc27a2 A G 2: 126,395,234 (GRCm39) T54A possibly damaging Het
Slc9a9 T A 9: 95,111,011 (GRCm39) S610T probably benign Het
Smc1b A T 15: 84,970,335 (GRCm39) S973T probably benign Het
Smc6 G A 12: 11,329,734 (GRCm39) S164N possibly damaging Het
Sp1 A G 15: 102,316,314 (GRCm39) T32A possibly damaging Het
Spen T C 4: 141,202,946 (GRCm39) I1894V probably benign Het
Spen T C 4: 141,203,011 (GRCm39) K1872R possibly damaging Het
Stab1 C A 14: 30,873,541 (GRCm39) probably benign Het
Taar7d T G 10: 23,904,102 (GRCm39) F328C probably damaging Het
Ticam1 A T 17: 56,578,113 (GRCm39) S327R probably benign Het
Tmem248 C T 5: 130,258,295 (GRCm39) probably benign Het
Tom1 T C 8: 75,781,259 (GRCm39) S83P probably damaging Het
Txk T A 5: 72,856,453 (GRCm39) Y446F probably damaging Het
Ubap1l T A 9: 65,279,237 (GRCm39) C179S probably benign Het
Utrn T C 10: 12,331,185 (GRCm39) E474G possibly damaging Het
Vmn2r14 T C 5: 109,363,862 (GRCm39) M685V probably benign Het
Vmn2r7 A T 3: 64,623,881 (GRCm39) Y146* probably null Het
Wdr1 G A 5: 38,697,905 (GRCm39) T220M probably damaging Het
Xpo7 T C 14: 70,915,582 (GRCm39) D726G probably damaging Het
Zbtb14 C G 17: 69,694,759 (GRCm39) I152M probably benign Het
Zbtb3 A G 19: 8,780,771 (GRCm39) D128G probably damaging Het
Zeb1os1 A G 18: 5,583,794 (GRCm39) noncoding transcript Het
Zfp462 T A 4: 55,007,667 (GRCm39) D35E probably damaging Het
Zfp467 A G 6: 48,415,621 (GRCm39) S344P possibly damaging Het
Zfpm1 A T 8: 123,034,285 (GRCm39) D73V possibly damaging 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
IGL02973:Ago2 APN 15 72,995,314 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TAGACCAGCCAAGCAAGTGGTGAC -3'
(R):5'- TCGGGCTCTTTCTCAAGTGCATAAC -3'

Sequencing Primer
(F):5'- AGCAAGTGGTGACTTCCATGTC -3'
(R):5'- gtctctcacttggtaaagaacttg -3'
Posted On 2014-04-13