Mutagenetix > Incidental Mutation

Incidental Mutation 'R5395:Piwil2'

426155

Institutional Source

Beutler Lab

Gene Symbol

Piwil2

Ensembl Gene

ENSMUSG00000033644

Gene Name

piwi-like RNA-mediated gene silencing 2

Synonyms

mili, Miwi like

MMRRC Submission

042967-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5395 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

70609926-70666832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 70632846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 575 (N575K)

Ref Sequence

ENSEMBL: ENSMUSP00000047385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048129]

AlphaFold

Q8CDG1

PDB Structure

Structure of extended Tudor domain TD3 from mouse TDRD1 in complex with MILI peptide containing dimethylarginine 45. [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000048129
AA Change: N575K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: N575K

Domain	Start	End	E-Value	Type
low complexity region	35	46	N/A	INTRINSIC
low complexity region	90	102	N/A	INTRINSIC
low complexity region	176	190	N/A	INTRINSIC
DUF1785	335	386	7.44e-2	SMART
PAZ	386	524	1.92e-62	SMART
Piwi	666	957	2.45e-119	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PIWIL2 belongs to the Argonaute family of proteins, which function in development and maintenance of germline stem cells (Sasaki et al., 2003 [PubMed 12906857]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased testis weight, azoospermia, and male infertility associated with a complete arrest of spermatogenesis and increased apoptotic cell death during the early prophase of the first meiosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 121,874,590 (GRCm39)	I268V	probably benign	Het
Actn1	T	A	12: 80,217,477 (GRCm39)	I782F	probably benign	Het
Adamdec1	A	C	14: 68,808,352 (GRCm39)	S333A	probably benign	Het
Agbl5	C	A	5: 31,047,682 (GRCm39)	T58N	probably damaging	Het
Apoo-ps	T	A	13: 107,550,993 (GRCm39)		noncoding transcript	Het
Arhgef10l	T	C	4: 140,297,601 (GRCm39)	N277S	probably benign	Het
Ascc2	A	G	11: 4,609,273 (GRCm39)	E241G	possibly damaging	Het
Atp13a4	A	T	16: 29,239,706 (GRCm39)	Y835*	probably null	Het
Atp13a4	A	G	16: 29,275,422 (GRCm39)	V354A	possibly damaging	Het
Bcas3	T	C	11: 85,716,075 (GRCm39)	S426P	probably damaging	Het
Birc2	T	C	9: 7,861,175 (GRCm39)	R48G	probably damaging	Het
Cacna2d4	T	C	6: 119,248,379 (GRCm39)	S397P	possibly damaging	Het
Ccng2	T	C	5: 93,417,257 (GRCm39)	M91T	possibly damaging	Het
Clk3	G	A	9: 57,660,622 (GRCm39)	T473M	probably damaging	Het
Cog2	T	A	8: 125,271,960 (GRCm39)	H491Q	probably benign	Het
Cyp4f40	C	T	17: 32,888,827 (GRCm39)	T202I	probably benign	Het
Dennd1a	A	T	2: 37,692,140 (GRCm39)	F181I	probably damaging	Het
Fcrl6	G	T	1: 172,426,287 (GRCm39)	A170D	possibly damaging	Het
Fev	T	C	1: 74,921,823 (GRCm39)		probably null	Het
Flnb	A	G	14: 7,883,881 (GRCm38)	N369S	probably benign	Het
Flt3	A	G	5: 147,291,633 (GRCm39)	F606L	probably damaging	Het
Gdf9	T	C	11: 53,324,624 (GRCm39)	V131A	probably benign	Het
Gdnf	T	A	15: 7,864,165 (GRCm39)	L192Q	probably damaging	Het
Gjc2	A	T	11: 59,068,315 (GRCm39)	C56S	possibly damaging	Het
Gli3	T	C	13: 15,889,535 (GRCm39)	F550L	probably damaging	Het
Gm1110	T	C	9: 26,800,928 (GRCm39)	E422G	probably benign	Het
Gm14325	G	A	2: 177,474,777 (GRCm39)	H102Y	possibly damaging	Het
Gnb2	A	G	5: 137,526,788 (GRCm39)	S334P	probably damaging	Het
Icam2	A	T	11: 106,273,299 (GRCm39)		probably null	Het
Inca1	C	T	11: 70,581,264 (GRCm39)		probably null	Het
Itgb8	A	C	12: 119,134,476 (GRCm39)	C530W	probably damaging	Het
Lrp1	T	C	10: 127,431,166 (GRCm39)	D332G	probably damaging	Het
Ly75	A	T	2: 60,195,455 (GRCm39)	N234K	probably benign	Het
Mcm5	G	A	8: 75,849,654 (GRCm39)	S542N	probably benign	Het
Mcm9	A	T	10: 53,414,788 (GRCm39)	N97K	possibly damaging	Het
Morc2a	G	A	11: 3,638,232 (GRCm39)	R986H	possibly damaging	Het
Neu2	T	A	1: 87,524,397 (GRCm39)		probably null	Het
Nfatc1	G	A	18: 80,679,235 (GRCm39)	P718S	possibly damaging	Het
Nol6	G	A	4: 41,118,392 (GRCm39)		probably benign	Het
Or10j7	A	T	1: 173,011,247 (GRCm39)	Y251*	probably null	Het
Otogl	T	C	10: 107,652,999 (GRCm39)	N1118D	probably benign	Het
Pcdh15	T	A	10: 74,021,119 (GRCm39)	I111K	probably damaging	Het
Phkb	A	G	8: 86,744,097 (GRCm39)	D582G	probably damaging	Het
Pou4f2	T	A	8: 79,161,701 (GRCm39)	I301F	probably damaging	Het
Prkd1	T	C	12: 50,438,215 (GRCm39)	N409S	probably damaging	Het
Ptpn21	T	G	12: 98,681,376 (GRCm39)	K86T	probably damaging	Het
Raly	T	A	2: 154,705,927 (GRCm39)		probably null	Het
Rangap1	A	G	15: 81,590,647 (GRCm39)	F482L	probably benign	Het
Rapgef1	T	A	2: 29,627,977 (GRCm39)	N1052K	probably damaging	Het
Rnf169	A	T	7: 99,584,367 (GRCm39)		probably null	Het
Sdr16c5	T	C	4: 4,016,277 (GRCm39)	S50G	probably benign	Het
Sin3a	G	A	9: 57,012,957 (GRCm39)	R612H	probably damaging	Het
Six6	T	A	12: 72,988,475 (GRCm39)	L216*	probably null	Het
Slc20a1	A	T	2: 129,050,257 (GRCm39)	N472Y	probably damaging	Het
Slc35d1	C	T	4: 103,068,572 (GRCm39)		probably null	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Slc7a8	C	A	14: 54,970,734 (GRCm39)	G306*	probably null	Het
Slc9a8	T	A	2: 167,309,642 (GRCm39)	F335L	probably damaging	Het
Smyd1	T	G	6: 71,196,374 (GRCm39)	K338T	possibly damaging	Het
Snd1	T	A	6: 28,526,183 (GRCm39)	V187E	probably damaging	Het
Spag9	T	G	11: 93,982,577 (GRCm39)		probably null	Het
Tnfsf9	C	A	17: 57,412,592 (GRCm39)	T54K	probably benign	Het
Trim24	T	G	6: 37,934,679 (GRCm39)	V798G	probably damaging	Het
Tyr	C	A	7: 87,121,698 (GRCm39)	A365S	probably damaging	Het
Usp43	T	A	11: 67,788,184 (GRCm39)		probably null	Het
Vmn2r55	T	C	7: 12,385,874 (GRCm39)	D702G	probably damaging	Het
Vmn2r72	A	G	7: 85,400,105 (GRCm39)	S315P	possibly damaging	Het
Wdr64	T	A	1: 175,583,164 (GRCm39)	F367I	probably damaging	Het
Zc3h7b	G	A	15: 81,656,702 (GRCm39)	R173K	possibly damaging	Het
Zfp493	T	A	13: 67,931,965 (GRCm39)	C21*	probably null	Het
Zfp825	T	C	13: 74,628,665 (GRCm39)	T284A	possibly damaging	Het
Zpbp2	T	A	11: 98,449,039 (GRCm39)	V275D	probably damaging	Het

Other mutations in Piwil2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Piwil2	APN	14	70,635,667 (GRCm39)	missense	probably benign	0.35
IGL02215:Piwil2	APN	14	70,628,822 (GRCm39)	missense	possibly damaging	0.50
IGL02427:Piwil2	APN	14	70,635,583 (GRCm39)	splice site	probably benign
IGL02554:Piwil2	APN	14	70,628,935 (GRCm39)	splice site	probably benign
R0257:Piwil2	UTSW	14	70,660,080 (GRCm39)	missense	probably benign	0.00
R0566:Piwil2	UTSW	14	70,647,843 (GRCm39)	missense	probably damaging	0.99
R0800:Piwil2	UTSW	14	70,646,486 (GRCm39)	unclassified	probably benign
R0828:Piwil2	UTSW	14	70,613,466 (GRCm39)	missense	probably damaging	1.00
R0862:Piwil2	UTSW	14	70,632,823 (GRCm39)	missense	probably benign	0.00
R0864:Piwil2	UTSW	14	70,632,823 (GRCm39)	missense	probably benign	0.00
R0881:Piwil2	UTSW	14	70,646,376 (GRCm39)	missense	probably benign	0.34
R1734:Piwil2	UTSW	14	70,663,954 (GRCm39)	critical splice donor site	probably null
R1997:Piwil2	UTSW	14	70,664,107 (GRCm39)	missense	possibly damaging	0.90
R2011:Piwil2	UTSW	14	70,664,083 (GRCm39)	missense	probably damaging	1.00
R2043:Piwil2	UTSW	14	70,628,919 (GRCm39)	missense	probably benign	0.00
R2347:Piwil2	UTSW	14	70,646,366 (GRCm39)	missense	probably damaging	0.98
R2998:Piwil2	UTSW	14	70,648,687 (GRCm39)	missense	probably damaging	1.00
R4402:Piwil2	UTSW	14	70,646,365 (GRCm39)	missense	probably benign	0.01
R4455:Piwil2	UTSW	14	70,628,014 (GRCm39)	missense	probably benign	0.02
R4611:Piwil2	UTSW	14	70,639,646 (GRCm39)	missense	probably benign	0.07
R4763:Piwil2	UTSW	14	70,614,227 (GRCm39)	missense	probably damaging	1.00
R4869:Piwil2	UTSW	14	70,632,811 (GRCm39)	missense	probably benign	0.00
R5033:Piwil2	UTSW	14	70,659,042 (GRCm39)	missense	possibly damaging	0.71
R5207:Piwil2	UTSW	14	70,629,966 (GRCm39)	missense	probably damaging	1.00
R5486:Piwil2	UTSW	14	70,638,880 (GRCm39)	missense	probably benign	0.01
R5504:Piwil2	UTSW	14	70,627,348 (GRCm39)	missense	probably benign	0.01
R5629:Piwil2	UTSW	14	70,660,416 (GRCm39)	missense	probably damaging	1.00
R5967:Piwil2	UTSW	14	70,628,013 (GRCm39)	missense	probably benign	0.00
R6167:Piwil2	UTSW	14	70,660,342 (GRCm39)	critical splice donor site	probably null
R6168:Piwil2	UTSW	14	70,632,800 (GRCm39)	missense	probably benign	0.04
R6517:Piwil2	UTSW	14	70,611,785 (GRCm39)	missense	probably benign	0.44
R7261:Piwil2	UTSW	14	70,611,860 (GRCm39)	missense	probably damaging	1.00
R7727:Piwil2	UTSW	14	70,631,506 (GRCm39)	missense	probably damaging	1.00
R7745:Piwil2	UTSW	14	70,631,638 (GRCm39)	missense	probably benign
R7833:Piwil2	UTSW	14	70,632,890 (GRCm39)	missense	probably benign	0.02
R8044:Piwil2	UTSW	14	70,628,887 (GRCm39)	missense	possibly damaging	0.90
R8066:Piwil2	UTSW	14	70,658,168 (GRCm39)	missense	probably benign	0.00
R8516:Piwil2	UTSW	14	70,658,188 (GRCm39)	missense	probably benign	0.19
R9015:Piwil2	UTSW	14	70,627,984 (GRCm39)	missense	probably benign	0.00
R9494:Piwil2	UTSW	14	70,660,421 (GRCm39)	missense	probably benign	0.05
R9695:Piwil2	UTSW	14	70,627,349 (GRCm39)	missense	possibly damaging	0.66
X0023:Piwil2	UTSW	14	70,635,648 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTCACTCAGGGTGGAGTC -3'
(R):5'- CACAGTGCAGAGACCATGTG -3'

Sequencing Primer
(F):5'- GTCTGGATGACTCTTCCTCTCAGAG -3'
(R):5'- ATGGCTGTTTTTGCATTGACCC -3'

Posted On

2016-08-04