Incidental Mutation 'R0316:Ago2'
ID 34220
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 038526-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0316 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 72967693-73056777 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 73002725 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 169 (H169R)
Ref Sequence ENSEMBL: ENSMUSP00000042207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044113]
AlphaFold Q8CJG0
Predicted Effect probably damaging
Transcript: ENSMUST00000044113
AA Change: H169R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: H169R

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
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 96.2%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,888,765 (GRCm39) F276I probably damaging Het
Ado A G 10: 67,384,548 (GRCm39) L19P possibly damaging Het
Asic1 G A 15: 99,569,819 (GRCm39) A47T probably benign Het
Atg16l2 A T 7: 100,942,603 (GRCm39) I364N probably damaging Het
C130050O18Rik G A 5: 139,400,313 (GRCm39) R122Q probably damaging Het
Capn7 T A 14: 31,069,766 (GRCm39) C197S probably benign Het
Casp16 T C 17: 23,771,066 (GRCm39) D113G probably damaging Het
Cdh18 T A 15: 23,366,999 (GRCm39) V235D probably damaging Het
Clca4a G T 3: 144,659,525 (GRCm39) T777K probably damaging Het
Col17a1 A G 19: 47,673,972 (GRCm39) probably null Het
Col5a3 C A 9: 20,686,621 (GRCm39) D1335Y unknown Het
Cpxm1 T C 2: 130,235,091 (GRCm39) E576G probably damaging Het
Dcbld2 T C 16: 58,253,808 (GRCm39) S182P probably damaging Het
Dclk1 C T 3: 55,410,313 (GRCm39) S616L probably damaging Het
Dll4 C A 2: 119,161,634 (GRCm39) D405E probably damaging Het
Dnah1 G A 14: 31,000,108 (GRCm39) R2462C probably benign Het
Dnah3 A T 7: 119,564,882 (GRCm39) Y2594N possibly damaging Het
Ess2 G A 16: 17,727,958 (GRCm39) P103S probably benign Het
Fam110a C A 2: 151,812,006 (GRCm39) A255S probably benign Het
Fbn2 G A 18: 58,246,397 (GRCm39) R502W probably damaging Het
Fgl2 A G 5: 21,580,521 (GRCm39) S288G possibly damaging Het
Gm1527 T C 3: 28,969,923 (GRCm39) S342P probably damaging Het
Gm19668 A T 10: 77,634,564 (GRCm39) probably benign Het
Gm5901 A T 7: 105,026,522 (GRCm39) T97S probably damaging Het
Greb1l A G 18: 10,547,420 (GRCm39) Y1546C probably damaging Het
Impg1 A T 9: 80,249,347 (GRCm39) S619T probably damaging Het
Itih2 C A 2: 10,110,057 (GRCm39) Q565H possibly damaging Het
Kbtbd6 T A 14: 79,690,464 (GRCm39) N386K probably benign Het
Lama3 T C 18: 12,652,934 (GRCm39) M218T probably benign Het
Lipg T C 18: 75,094,012 (GRCm39) S12G probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mex3d G T 10: 80,217,505 (GRCm39) P571T probably damaging Het
Neb A C 2: 52,085,482 (GRCm39) Y1538D possibly damaging Het
Nsd1 T C 13: 55,361,584 (GRCm39) I184T probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or5b99 T A 19: 12,976,766 (GRCm39) C139S probably damaging Het
Or5w18 T C 2: 87,633,525 (GRCm39) F264S probably damaging Het
Pacs1 T C 19: 5,185,149 (GRCm39) silent Het
Pdcd11 T C 19: 47,101,611 (GRCm39) V932A probably damaging Het
Pkd2 A G 5: 104,625,032 (GRCm39) D276G probably damaging Het
Pkia T A 3: 7,502,499 (GRCm39) D25E probably damaging Het
Plxna2 A C 1: 194,326,458 (GRCm39) S131R probably damaging Het
Prelid1 T C 13: 55,472,220 (GRCm39) V132A possibly damaging Het
Psma3 T C 12: 71,030,163 (GRCm39) Y59H probably benign Het
Ptchd3 A C 11: 121,732,916 (GRCm39) E602A possibly damaging Het
Ptpro T C 6: 137,353,987 (GRCm39) V121A possibly damaging Het
Ptprt A G 2: 161,449,239 (GRCm39) L878P probably damaging Het
Pxn G A 5: 115,692,027 (GRCm39) G370S probably damaging Het
Rcn2 G T 9: 55,949,453 (GRCm39) A40S probably benign Het
Rnf215 A G 11: 4,089,760 (GRCm39) N258D probably damaging Het
Rnpc3 T C 3: 113,423,622 (GRCm39) T28A probably damaging Het
Rtel1 T A 2: 180,997,795 (GRCm39) V1100E possibly damaging Het
Scn3a T A 2: 65,291,173 (GRCm39) I1858F probably damaging Het
Slc9c1 G A 16: 45,400,595 (GRCm39) R735Q possibly damaging Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Spata13 A G 14: 60,929,788 (GRCm39) T449A probably benign Het
Svep1 A G 4: 58,072,737 (GRCm39) W2191R probably damaging Het
Thbs1 G A 2: 117,948,055 (GRCm39) R405H probably damaging Het
Tnn A G 1: 159,948,137 (GRCm39) Y859H possibly damaging Het
Tonsl A G 15: 76,513,500 (GRCm39) S1245P possibly damaging Het
Tpcn1 G A 5: 120,677,324 (GRCm39) T661M probably damaging Het
Trap1 A G 16: 3,863,424 (GRCm39) F533L probably benign Het
Ttc23 T C 7: 67,328,821 (GRCm39) probably null Het
Vax2 T C 6: 83,688,426 (GRCm39) S50P possibly damaging Het
Vmn1r5 A C 6: 56,962,784 (GRCm39) E153A probably benign Het
Vmn2r14 G T 5: 109,366,762 (GRCm39) P486Q probably benign Het
Vmn2r96 T A 17: 18,802,827 (GRCm39) F246I probably damaging Het
Zc3h10 C A 10: 128,380,624 (GRCm39) E244D probably damaging Het
Zdhhc18 T A 4: 133,340,966 (GRCm39) K265* 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
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
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
Predicted Primers PCR Primer
(F):5'- TTTTACACCCAGGCAAGGCCAC -3'
(R):5'- TTGTGCTTTCTCAGGGATGATGACC -3'

Sequencing Primer
(F):5'- TGTGACTATCACCACTGACTCC -3'
(R):5'- CAGGGATGATGACCTCTGTGC -3'
Posted On 2013-05-09