Mutagenetix > Incidental Mutation

Incidental Mutation 'R8271:Ago2'

637741

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

067652-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8271 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

72967693-73056777 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 72991315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 541 (L541Q)

Ref Sequence

ENSEMBL: ENSMUSP00000042207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044113]

AlphaFold

Q8CJG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000044113
AA Change: L541Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000042207
Gene: ENSMUSG00000036698
AA Change: L541Q

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: 99.8%
20x: 99.2%

Validation Efficiency

100% (65/65)

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	T	5: 8,736,212 (GRCm39)	I202L	probably benign	Het
Acadsb	A	T	7: 131,045,423 (GRCm39)	T452S	unknown	Het
Ap2a2	A	T	7: 141,200,812 (GRCm39)	E553V	probably damaging	Het
Astn2	T	C	4: 65,910,663 (GRCm39)	K442E	unknown	Het
Bicd1	A	G	6: 149,414,633 (GRCm39)	T449A	probably benign	Het
Btn1a1	T	A	13: 23,645,919 (GRCm39)	Q150L	probably benign	Het
C1ra	G	A	6: 124,499,610 (GRCm39)	G599R	probably damaging	Het
Camta2	T	A	11: 70,561,886 (GRCm39)	Q1076L	probably benign	Het
Capza2	T	A	6: 17,657,214 (GRCm39)	C157S	probably damaging	Het
Ccnk	A	G	12: 108,162,114 (GRCm39)		probably benign	Het
Chd3	T	A	11: 69,251,483 (GRCm39)	D516V	probably damaging	Het
Cntnap5b	A	G	1: 99,999,832 (GRCm39)	T197A	probably benign	Het
Comp	A	G	8: 70,829,110 (GRCm39)	N260S	probably damaging	Het
Dcp1a	A	G	14: 30,244,883 (GRCm39)	T570A	possibly damaging	Het
Ddx60	T	A	8: 62,393,142 (GRCm39)		probably null	Het
Defb22	C	T	2: 152,327,712 (GRCm39)	V158I	unknown	Het
Diaph3	T	C	14: 87,103,949 (GRCm39)	S812G	probably damaging	Het
Dohh	G	T	10: 81,221,844 (GRCm39)	Q79H	probably benign	Het
Dyrk1b	T	G	7: 27,882,080 (GRCm39)	V147G	probably benign	Het
Fastkd2	C	T	1: 63,787,183 (GRCm39)	T539I	probably benign	Het
Itpr3	G	A	17: 27,306,622 (GRCm39)	D229N	probably damaging	Het
Kcnv1	A	T	15: 44,972,754 (GRCm39)	D376E	probably benign	Het
Kif13a	C	A	13: 46,906,057 (GRCm39)	V1577F	probably benign	Het
L3mbtl4	G	A	17: 68,793,938 (GRCm39)	R314H	probably damaging	Het
Mcoln2	A	C	3: 145,898,179 (GRCm39)	N100T	unknown	Het
Mdh1b	C	T	1: 63,759,164 (GRCm39)	V143M	possibly damaging	Het
Mfsd4b4	G	T	10: 39,768,101 (GRCm39)	Q377K	probably benign	Het
Mpv17l	T	C	16: 13,762,584 (GRCm39)	F122S	probably damaging	Het
Mylk	T	C	16: 34,742,949 (GRCm39)	S1154P	probably damaging	Het
Myo5b	A	G	18: 74,760,261 (GRCm39)	Y259C	probably damaging	Het
Nek1	G	A	8: 61,558,646 (GRCm39)	V931M	probably benign	Het
Nkd2	C	A	13: 73,969,437 (GRCm39)	G343V	probably damaging	Het
Obox8	T	A	7: 14,065,928 (GRCm39)	T197S	probably benign	Het
Or10j5	T	A	1: 172,784,744 (GRCm39)	C127*	probably null	Het
Or13g1	G	A	7: 85,955,962 (GRCm39)	R120C	probably benign	Het
Or4b1b	A	G	2: 90,112,616 (GRCm39)	F101S	possibly damaging	Het
Or5m11b	T	G	2: 85,806,085 (GRCm39)	M166R	probably benign	Het
Or5m11b	T	C	2: 85,805,766 (GRCm39)	Y60H	probably damaging	Het
Or5p57	A	G	7: 107,664,980 (GRCm39)	S342P	probably damaging	Het
Or5t7	T	A	2: 86,507,218 (GRCm39)	H153L	probably benign	Het
Palb2	A	T	7: 121,724,097 (GRCm39)	S551T	probably damaging	Het
Pcdha12	T	A	18: 37,154,953 (GRCm39)	D557E	probably damaging	Het
Pcdhb21	T	A	18: 37,648,921 (GRCm39)	D683E	probably benign	Het
Plekhb1	A	G	7: 100,305,936 (GRCm39)		probably benign	Het
Plekhg5	A	G	4: 152,187,464 (GRCm39)	N90D	probably damaging	Het
Pnpla1	A	G	17: 29,100,579 (GRCm39)	D482G	probably benign	Het
Rc3h1	A	T	1: 160,768,329 (GRCm39)		probably benign	Het
Rfpl4	C	T	7: 5,113,539 (GRCm39)	R214H	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Setd5	T	C	6: 113,092,031 (GRCm39)	I284T	possibly damaging	Het
Smurf1	C	T	5: 144,830,897 (GRCm39)	E293K	possibly damaging	Het
Tas2r106	A	T	6: 131,655,023 (GRCm39)	I276N	probably damaging	Het
Tbc1d2	C	A	4: 46,649,791 (GRCm39)	A82S	possibly damaging	Het
Tex19.2	A	G	11: 121,008,010 (GRCm39)	I146T	possibly damaging	Het
Tmem107	T	G	11: 68,962,281 (GRCm39)	N79K	probably damaging	Het
Tpsab1	A	T	17: 25,564,305 (GRCm39)	S50T	probably benign	Het
Ttn	T	A	2: 76,553,594 (GRCm39)	K31008*	probably null	Het
Ubox5	T	C	2: 130,441,629 (GRCm39)	T353A	probably benign	Het
Usp24	T	A	4: 106,285,711 (GRCm39)	H2445Q	probably damaging	Het
Uvrag	T	C	7: 98,537,698 (GRCm39)	D499G	probably benign	Het
Xndc1	A	T	7: 101,728,343 (GRCm39)	N247I	possibly damaging	Het
Yipf2	A	T	9: 21,501,291 (GRCm39)	W226R	probably damaging	Het
Zfp335	T	A	2: 164,739,973 (GRCm39)	Q793L	probably damaging	Het
Zfp385c	A	G	11: 100,548,291 (GRCm39)	S54P	probably damaging	Het
Zpld2	G	T	4: 133,930,278 (GRCm39)	T9K	unknown	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
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'- ACTACCAGTGAGCACCTCTC -3'
(R):5'- TAAAGCAGGATTCCGCCAG -3'

Sequencing Primer
(F):5'- AGTGAGCACCTCTCCACTG -3'
(R):5'- TGCCCCTCTGTCTGCCAG -3'

Posted On

2020-07-28