Incidental Mutation 'R1382:Ago2'
ID |
163106 |
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 |
039444-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1382 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
72967693-73056777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72998889 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Tyrosine
at position 236
(C236Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044113]
|
AlphaFold |
Q8CJG0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000044113
AA Change: C236Y
PolyPhen 2
Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000042207 Gene: ENSMUSG00000036698 AA Change: C236Y
Domain | Start | End | E-Value | Type |
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: 98.9%
- 3x: 97.9%
- 10x: 95.0%
- 20x: 88.8%
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgef6 |
T |
C |
X: 56,383,922 (GRCm39) |
M5V |
probably benign |
Het |
Asap2 |
A |
G |
12: 21,315,955 (GRCm39) |
T916A |
probably damaging |
Het |
Ceacam5 |
T |
C |
7: 17,486,090 (GRCm39) |
V529A |
probably benign |
Het |
Cep192 |
G |
A |
18: 67,989,370 (GRCm39) |
R1839Q |
possibly damaging |
Het |
Cope |
A |
G |
8: 70,765,513 (GRCm39) |
N295S |
probably benign |
Het |
Crocc2 |
G |
A |
1: 93,144,815 (GRCm39) |
|
probably null |
Het |
Cuedc1 |
C |
T |
11: 88,068,189 (GRCm39) |
P146S |
probably benign |
Het |
Ddc |
T |
C |
11: 11,774,856 (GRCm39) |
D345G |
possibly damaging |
Het |
Dsg4 |
T |
A |
18: 20,598,181 (GRCm39) |
C700S |
probably benign |
Het |
Dst |
A |
T |
1: 34,307,914 (GRCm39) |
E6224D |
probably damaging |
Het |
Exo1 |
A |
G |
1: 175,721,362 (GRCm39) |
T334A |
probably damaging |
Het |
Gjb3 |
G |
A |
4: 127,220,224 (GRCm39) |
R103W |
probably damaging |
Het |
Glyr1 |
GCTGCC |
G |
16: 4,839,209 (GRCm39) |
|
probably null |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Lemd3 |
A |
T |
10: 120,767,641 (GRCm39) |
I711K |
probably damaging |
Het |
Lrrc8b |
A |
G |
5: 105,628,749 (GRCm39) |
D365G |
probably damaging |
Het |
Mdga2 |
A |
T |
12: 66,517,690 (GRCm39) |
I48K |
possibly damaging |
Het |
Or51q1c |
G |
T |
7: 103,652,927 (GRCm39) |
L148F |
probably benign |
Het |
Pate7 |
T |
A |
9: 35,689,390 (GRCm39) |
|
probably benign |
Het |
Pdzph1 |
A |
G |
17: 59,281,742 (GRCm39) |
V180A |
probably benign |
Het |
Phactr1 |
T |
C |
13: 43,286,451 (GRCm39) |
F584S |
probably damaging |
Het |
Ppan |
A |
G |
9: 20,803,214 (GRCm39) |
K429E |
probably benign |
Het |
Prkd3 |
A |
G |
17: 79,264,674 (GRCm39) |
V647A |
probably damaging |
Het |
Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
Ptpru |
A |
G |
4: 131,535,540 (GRCm39) |
F407S |
probably damaging |
Het |
Rab3gap1 |
A |
T |
1: 127,870,333 (GRCm39) |
T985S |
probably damaging |
Het |
Slc5a2 |
G |
C |
7: 127,869,803 (GRCm39) |
R412P |
probably damaging |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Tet2 |
C |
T |
3: 133,182,376 (GRCm39) |
G1196D |
probably damaging |
Het |
Tub |
G |
A |
7: 108,629,360 (GRCm39) |
V426I |
probably damaging |
Het |
Wdr75 |
A |
G |
1: 45,856,471 (GRCm39) |
Y498C |
probably damaging |
Het |
|
Other mutations in Ago2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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'- CGACTCAGAGTCAGTGTGTCTTGTG -3'
(R):5'- GACTTCTTCAGATTCAGCCAGTCCC -3'
Sequencing Primer
(F):5'- CAGTGTGTCTTGTGTTCACTC -3'
(R):5'- AACCATTGTCCTTGGCTGGAG -3'
|
Posted On |
2014-03-17 |