Incidental Mutation 'R9286:Ago2'
ID |
703939 |
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 |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9286 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
72967693-73056777 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 72997065 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 326
(L326P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000042207
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044113]
|
AlphaFold |
Q8CJG0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044113
AA Change: L326P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000042207 Gene: ENSMUSG00000036698 AA Change: L326P
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
G |
C |
15: 91,058,827 (GRCm39) |
P539R |
possibly damaging |
Het |
Adgrl3 |
A |
T |
5: 81,794,413 (GRCm39) |
D478V |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,594,520 (GRCm39) |
Y4165N |
probably damaging |
Het |
Akap6 |
A |
C |
12: 53,119,254 (GRCm39) |
K1107T |
possibly damaging |
Het |
Ank2 |
C |
T |
3: 126,846,381 (GRCm39) |
A205T |
probably damaging |
Het |
Ankrd27 |
T |
C |
7: 35,326,869 (GRCm39) |
V738A |
probably benign |
Het |
Asb1 |
A |
G |
1: 91,480,150 (GRCm39) |
K291R |
probably benign |
Het |
Cacna1e |
G |
T |
1: 154,288,845 (GRCm39) |
P1847T |
probably damaging |
Het |
Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
Cps1 |
T |
G |
1: 67,198,030 (GRCm39) |
M365R |
probably damaging |
Het |
Ctc1 |
T |
G |
11: 68,917,180 (GRCm39) |
|
probably null |
Het |
Cyp2b10 |
G |
T |
7: 25,616,391 (GRCm39) |
G333C |
probably damaging |
Het |
Cyp2d12 |
A |
G |
15: 82,443,403 (GRCm39) |
E455G |
probably damaging |
Het |
Daam2 |
A |
T |
17: 49,786,922 (GRCm39) |
D539E |
possibly damaging |
Het |
Dip2a |
T |
A |
10: 76,138,096 (GRCm39) |
Y370F |
probably benign |
Het |
Dok5 |
G |
A |
2: 170,672,099 (GRCm39) |
E134K |
possibly damaging |
Het |
Dync2h1 |
C |
T |
9: 6,941,668 (GRCm39) |
A4164T |
probably benign |
Het |
Ecm2 |
A |
G |
13: 49,683,696 (GRCm39) |
Y558C |
|
Het |
Eif3b |
A |
G |
5: 140,411,064 (GRCm39) |
I172V |
probably benign |
Het |
Flnb |
T |
C |
14: 7,873,414 (GRCm38) |
F237L |
probably damaging |
Het |
Gdpd4 |
A |
G |
7: 97,647,639 (GRCm39) |
I429V |
probably damaging |
Het |
Grik1 |
T |
C |
16: 87,848,315 (GRCm39) |
Y151C |
|
Het |
Gys2 |
C |
A |
6: 142,376,037 (GRCm39) |
V542L |
possibly damaging |
Het |
Hmx1 |
A |
G |
5: 35,546,776 (GRCm39) |
T106A |
probably benign |
Het |
Il1rap |
T |
C |
16: 26,517,604 (GRCm39) |
V268A |
possibly damaging |
Het |
Kansl3 |
T |
C |
1: 36,387,720 (GRCm39) |
T543A |
probably benign |
Het |
Kcnk1 |
T |
A |
8: 126,752,148 (GRCm39) |
|
probably null |
Het |
Larp7 |
CCTTCTT |
CCTT |
3: 127,340,008 (GRCm39) |
|
probably benign |
Het |
Llgl2 |
T |
C |
11: 115,740,844 (GRCm39) |
F449L |
probably damaging |
Het |
Lmod2 |
A |
G |
6: 24,603,712 (GRCm39) |
E229G |
probably damaging |
Het |
Loxl4 |
A |
T |
19: 42,586,047 (GRCm39) |
V699E |
possibly damaging |
Het |
Miga2 |
A |
G |
2: 30,273,609 (GRCm39) |
D489G |
probably benign |
Het |
Nlrp1b |
T |
A |
11: 71,060,573 (GRCm39) |
H748L |
probably benign |
Het |
Nudcd2 |
T |
A |
11: 40,627,403 (GRCm39) |
Y108N |
probably damaging |
Het |
Or10g1 |
G |
A |
14: 52,648,075 (GRCm39) |
R85* |
probably null |
Het |
Or52b2 |
A |
C |
7: 104,985,971 (GRCm39) |
C317W |
probably damaging |
Het |
Or5b120 |
T |
A |
19: 13,479,791 (GRCm39) |
I28N |
possibly damaging |
Het |
Pcdhb17 |
T |
A |
18: 37,619,422 (GRCm39) |
V404E |
probably benign |
Het |
Pde4dip |
T |
C |
3: 97,607,183 (GRCm39) |
D2084G |
probably damaging |
Het |
Phf20 |
A |
T |
2: 156,134,470 (GRCm39) |
K552M |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,331,976 (GRCm39) |
D854G |
probably benign |
Het |
Psen1 |
A |
G |
12: 83,775,549 (GRCm39) |
N316D |
probably benign |
Het |
Rabgap1l |
G |
A |
1: 160,051,818 (GRCm39) |
Q361* |
probably null |
Het |
Ralb |
A |
T |
1: 119,399,544 (GRCm39) |
D171E |
probably benign |
Het |
Rev3l |
T |
C |
10: 39,682,947 (GRCm39) |
I355T |
possibly damaging |
Het |
Rttn |
A |
G |
18: 88,995,849 (GRCm39) |
K211E |
probably benign |
Het |
Scg2 |
A |
G |
1: 79,413,653 (GRCm39) |
S357P |
probably damaging |
Het |
Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
Slc17a5 |
A |
T |
9: 78,445,566 (GRCm39) |
W456R |
probably damaging |
Het |
Slf1 |
A |
T |
13: 77,191,932 (GRCm39) |
D967E |
probably damaging |
Het |
Spryd3 |
A |
T |
15: 102,041,869 (GRCm39) |
V51E |
possibly damaging |
Het |
Tgfbi |
A |
G |
13: 56,773,563 (GRCm39) |
H187R |
probably damaging |
Het |
Tmc3 |
A |
G |
7: 83,252,643 (GRCm39) |
E348G |
probably damaging |
Het |
Tmem45a2 |
A |
G |
16: 56,867,332 (GRCm39) |
I123T |
probably damaging |
Het |
Tonsl |
G |
A |
15: 76,515,213 (GRCm39) |
H1058Y |
probably damaging |
Het |
Trav13d-1 |
A |
G |
14: 53,089,050 (GRCm39) |
K20E |
probably benign |
Het |
Trpm2 |
C |
A |
10: 77,777,014 (GRCm39) |
V428L |
probably benign |
Het |
Usp25 |
A |
G |
16: 76,904,864 (GRCm39) |
Y810C |
probably damaging |
Het |
Vmn1r40 |
T |
A |
6: 89,692,079 (GRCm39) |
F299I |
probably benign |
Het |
Vmn2r18 |
A |
G |
5: 151,499,175 (GRCm39) |
F430L |
probably benign |
Het |
Vps13c |
G |
A |
9: 67,880,203 (GRCm39) |
V3462I |
probably benign |
Het |
Zfp955b |
T |
C |
17: 33,521,683 (GRCm39) |
I384T |
probably benign |
Het |
Zmym4 |
T |
C |
4: 126,783,812 (GRCm39) |
D1138G |
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 |
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 |
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'- GGTAATTCCACCCAAGCTGC -3'
(R):5'- AGCATTTGTTTCCTGCACAAC -3'
Sequencing Primer
(F):5'- TCCCATTTTAGAGGAAGAAAGACAC -3'
(R):5'- ACAACACAGGTGCTCGG -3'
|
Posted On |
2022-03-25 |