Incidental Mutation 'IGL02751:Ago2'
| ID |
306283 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ago2
|
| Ensembl Gene |
ENSMUSG00000036698 |
| Gene Name |
argonaute RISC catalytic subunit 2 |
| Synonyms |
Eif2c2, 1110029L17Rik, argonaute 2, 2310051F07Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02751
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
72967693-73056777 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 73002746 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 162
(A162V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000042207
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044113]
|
| AlphaFold |
Q8CJG0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000044113
AA Change: A162V
PolyPhen 2
Score 0.760 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: A162V
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adra1a |
A |
T |
14: 66,964,981 (GRCm39) |
I324F |
possibly damaging |
Het |
| Aox4 |
G |
T |
1: 58,298,211 (GRCm39) |
R1059I |
probably damaging |
Het |
| AU021092 |
C |
A |
16: 5,030,483 (GRCm39) |
V304L |
probably damaging |
Het |
| Bcs1l |
T |
G |
1: 74,628,775 (GRCm39) |
F20V |
probably damaging |
Het |
| Braf |
T |
C |
6: 39,637,801 (GRCm39) |
|
probably benign |
Het |
| Cacna1a |
T |
C |
8: 85,296,581 (GRCm39) |
C1200R |
probably damaging |
Het |
| Ccdc116 |
T |
A |
16: 16,959,836 (GRCm39) |
R284S |
probably benign |
Het |
| Cntnap5a |
T |
G |
1: 116,112,187 (GRCm39) |
|
probably null |
Het |
| Col12a1 |
A |
T |
9: 79,521,141 (GRCm39) |
|
probably benign |
Het |
| Cpa4 |
T |
A |
6: 30,581,739 (GRCm39) |
Y229N |
probably damaging |
Het |
| Fbp1 |
A |
C |
13: 63,022,957 (GRCm39) |
|
probably null |
Het |
| Gimap3 |
A |
T |
6: 48,742,172 (GRCm39) |
W253R |
probably benign |
Het |
| Gm1330 |
G |
A |
2: 148,832,393 (GRCm39) |
|
probably benign |
Het |
| Gm4841 |
A |
G |
18: 60,404,093 (GRCm39) |
|
probably benign |
Het |
| Grip1 |
A |
G |
10: 119,814,482 (GRCm39) |
T338A |
probably benign |
Het |
| Hmg20b |
A |
T |
10: 81,182,385 (GRCm39) |
|
probably benign |
Het |
| Hnrnpdl |
A |
G |
5: 100,185,833 (GRCm39) |
F151L |
probably damaging |
Het |
| Klhl30 |
T |
A |
1: 91,281,821 (GRCm39) |
F141I |
probably damaging |
Het |
| Lamc3 |
T |
A |
2: 31,810,716 (GRCm39) |
F862Y |
probably benign |
Het |
| Lap3 |
T |
C |
5: 45,662,138 (GRCm39) |
C313R |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,363,806 (GRCm39) |
T344A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,778,251 (GRCm39) |
E2023G |
possibly damaging |
Het |
| Mical2 |
A |
T |
7: 111,931,243 (GRCm39) |
K735N |
probably benign |
Het |
| Muc15 |
A |
G |
2: 110,562,118 (GRCm39) |
T185A |
probably benign |
Het |
| Or12d17 |
T |
C |
17: 37,777,306 (GRCm39) |
C70R |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,813,434 (GRCm39) |
K145R |
probably benign |
Het |
| Pde1c |
T |
C |
6: 56,158,673 (GRCm39) |
T52A |
probably damaging |
Het |
| Pidd1 |
A |
G |
7: 141,019,076 (GRCm39) |
S802P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Prep |
T |
A |
10: 44,991,282 (GRCm39) |
I316N |
probably damaging |
Het |
| Prl3d2 |
G |
A |
13: 27,310,014 (GRCm39) |
|
probably null |
Het |
| Pygo1 |
A |
T |
9: 72,852,319 (GRCm39) |
I169F |
probably benign |
Het |
| Rnf10 |
G |
T |
5: 115,380,725 (GRCm39) |
A716E |
probably benign |
Het |
| Rtn4 |
G |
A |
11: 29,656,409 (GRCm39) |
|
probably null |
Het |
| Ryr1 |
A |
T |
7: 28,778,199 (GRCm39) |
V2099E |
probably damaging |
Het |
| Slc48a1 |
G |
A |
15: 97,687,961 (GRCm39) |
|
probably benign |
Het |
| Spag17 |
T |
A |
3: 99,918,110 (GRCm39) |
Y364* |
probably null |
Het |
| Syt3 |
A |
T |
7: 44,035,486 (GRCm39) |
D31V |
possibly damaging |
Het |
| Tango2 |
G |
T |
16: 18,125,857 (GRCm39) |
P143H |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,107 (GRCm39) |
S201P |
probably damaging |
Het |
| Tas2r107 |
G |
A |
6: 131,636,447 (GRCm39) |
L201F |
probably damaging |
Het |
| Vmn1r81 |
A |
T |
7: 11,994,374 (GRCm39) |
L78Q |
probably damaging |
Het |
| Vmn2r18 |
T |
A |
5: 151,508,072 (GRCm39) |
T351S |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation