Incidental Mutation 'IGL02674:Ago2'
ID303047
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ago2
Ensembl Gene ENSMUSG00000036698
Gene Nameargonaute RISC catalytic subunit 2
Synonyms2310051F07Rik, argonaute 2, Eif2c2, 1110029L17Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02674
Quality Score
Status
Chromosome15
Chromosomal Location73095844-73184935 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73111794 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 689 (R689G)
Ref Sequence ENSEMBL: ENSMUSP00000042207 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044113]
Predicted Effect probably damaging
Transcript: ENSMUST00000044113
AA Change: R689G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: R689G

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
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn C T 4: 156,174,561 probably benign Het
Akna A T 4: 63,370,944 C1247* probably null Het
Appl1 T G 14: 26,949,461 T345P possibly damaging Het
Ccdc129 A G 6: 55,897,928 T288A probably benign Het
Chga A G 12: 102,562,901 D379G probably damaging Het
Chrna6 C T 8: 27,406,851 A333T probably benign Het
Col14a1 G A 15: 55,418,782 G813E unknown Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnhd1 A G 7: 105,721,481 Q4656R probably benign Het
Dock9 A C 14: 121,595,611 probably null Het
Fat4 A G 3: 38,983,337 N3713D probably benign Het
Fsd1 A T 17: 55,996,483 T452S probably benign Het
G6pc2 A G 2: 69,226,566 probably null Het
Kcnh4 C A 11: 100,746,894 V646L possibly damaging Het
Kcnk1 T C 8: 126,025,014 Y120H probably damaging Het
L3mbtl3 C T 10: 26,282,813 E646K unknown Het
Lrrc4c T C 2: 97,629,775 W249R probably damaging Het
Meox1 A T 11: 101,893,941 L22H probably damaging Het
Mrgpra4 C T 7: 47,980,942 V304M probably benign Het
Ncaph T C 2: 127,113,576 Y554C probably damaging Het
Nfx1 T C 4: 40,999,717 probably null Het
Olfr796 A C 10: 129,608,070 M137R possibly damaging Het
Olfr970 A G 9: 39,819,638 probably null Het
Otol1 C T 3: 70,018,744 P84L probably benign Het
Pcdhb11 T C 18: 37,423,614 S666P probably damaging Het
Pou2f3 T C 9: 43,139,333 K244R probably damaging Het
Ppp6r1 T C 7: 4,646,813 N51S probably damaging Het
Prdm4 A T 10: 85,893,399 L715M probably damaging Het
Rgs11 G A 17: 26,207,631 V279I probably benign Het
Rsc1a1 G T 4: 141,684,095 P502Q probably damaging Het
Senp1 T C 15: 98,056,959 E448G probably damaging Het
Shd A G 17: 55,971,554 D39G possibly damaging Het
Skint5 A C 4: 113,630,385 probably benign Het
Tmprss15 T G 16: 79,001,794 T667P possibly damaging Het
Tsta3 T C 15: 75,926,389 D178G probably damaging Het
Vps13b A T 15: 35,639,958 M1325L probably benign Het
Zfp263 T C 16: 3,746,765 probably benign Het
Zfp786 A G 6: 47,820,493 F504L probably benign Het
Other mutations in Ago2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00163:Ago2 APN 15 73126453 missense probably benign 0.00
IGL01642:Ago2 APN 15 73123390 missense probably benign 0.00
IGL02017:Ago2 APN 15 73126517 missense probably benign 0.15
IGL02246:Ago2 APN 15 73108418 missense probably damaging 1.00
IGL02434:Ago2 APN 15 73121081 missense probably damaging 1.00
IGL02686:Ago2 APN 15 73113742 missense possibly damaging 0.95
IGL02716:Ago2 APN 15 73111727 missense possibly damaging 0.94
IGL02751:Ago2 APN 15 73130897 missense possibly damaging 0.76
IGL02973:Ago2 APN 15 73123465 splice site probably benign
IGL03188:Ago2 APN 15 73123333 missense probably benign
PIT4791001:Ago2 UTSW 15 73121240 missense possibly damaging 0.72
R0316:Ago2 UTSW 15 73130876 missense probably damaging 0.99
R1382:Ago2 UTSW 15 73127040 missense probably benign 0.35
R1509:Ago2 UTSW 15 73116364 missense probably damaging 1.00
R1802:Ago2 UTSW 15 73121180 missense probably damaging 1.00
R1848:Ago2 UTSW 15 73123965 missense probably benign 0.02
R1930:Ago2 UTSW 15 73119355 missense probably damaging 0.97
R2195:Ago2 UTSW 15 73119469 missense probably benign 0.15
R2219:Ago2 UTSW 15 73146411 missense probably benign
R2350:Ago2 UTSW 15 73119461 missense probably benign 0.01
R2517:Ago2 UTSW 15 73124242 missense possibly damaging 0.76
R3727:Ago2 UTSW 15 73113857 missense probably damaging 1.00
R4614:Ago2 UTSW 15 73130967 missense probably damaging 0.98
R4667:Ago2 UTSW 15 73146416 missense probably damaging 1.00
R5101:Ago2 UTSW 15 73119490 missense probably damaging 0.99
R5175:Ago2 UTSW 15 73124218 missense possibly damaging 0.57
R5751:Ago2 UTSW 15 73128323 critical splice donor site probably null
R5815:Ago2 UTSW 15 73107366 critical splice acceptor site probably null
R6166:Ago2 UTSW 15 73124240 missense probably benign 0.00
R6378:Ago2 UTSW 15 73123925 missense probably benign
R6572:Ago2 UTSW 15 73126977 missense probably benign 0.14
R6922:Ago2 UTSW 15 73113752 missense probably benign 0.39
R7068:Ago2 UTSW 15 73146450 missense probably damaging 1.00
R7447:Ago2 UTSW 15 73138032 missense probably benign 0.35
R7449:Ago2 UTSW 15 73146499 missense probably damaging 1.00
X0012:Ago2 UTSW 15 73106952 missense probably benign 0.23
Posted On2015-04-16