Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02554:Piwil2'

298450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Piwil2

Ensembl Gene

ENSMUSG00000033644

Gene Name

piwi-like RNA-mediated gene silencing 2

Synonyms

Miwi like, mili

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02554

Quality Score

Status

Chromosome

Chromosomal Location

70372477-70429383 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 70391486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933408B17Rik	A	G	18: 34,593,015	S112P	probably benign	Het
9930111J21Rik1	T	A	11: 48,948,003	M586L	probably damaging	Het
Abcg3	T	C	5: 104,969,452	D204G	possibly damaging	Het
Acox3	C	A	5: 35,608,366	L588I	probably damaging	Het
Adamts9	G	T	6: 92,880,847	L849I	probably benign	Het
Alkbh3	T	G	2: 93,996,347	T170P	probably damaging	Het
Anks1b	A	T	10: 90,921,378	H300L	probably damaging	Het
Arhgap29	T	C	3: 121,992,524		probably benign	Het
Cd86	C	T	16: 36,618,485	G181D	probably benign	Het
Cep68	A	T	11: 20,240,096	H305Q	possibly damaging	Het
Clptm1l	A	T	13: 73,607,760	D165V	probably benign	Het
Dctn1	T	C	6: 83,182,722	Y61H	probably damaging	Het
Dnah7a	A	T	1: 53,618,046	M857K	possibly damaging	Het
Gpr158	A	G	2: 21,826,596	M836V	probably benign	Het
Gria1	G	T	11: 57,289,488	A755S	possibly damaging	Het
Helb	G	A	10: 120,089,712	T920M	probably damaging	Het
Hr	T	C	14: 70,559,866		probably benign	Het
Igf2bp1	A	G	11: 95,974,168	S152P	probably damaging	Het
Iqsec1	T	C	6: 90,669,345	Y784C	probably damaging	Het
Ldah	T	A	12: 8,283,935	C275*	probably null	Het
Lpin3	T	C	2: 160,896,787	S220P	probably damaging	Het
Med23	T	C	10: 24,898,575		probably null	Het
Mllt1	T	C	17: 56,899,806	D346G	probably benign	Het
Myef2	A	C	2: 125,100,425		probably null	Het
Myh2	A	G	11: 67,189,165	S1095G	probably benign	Het
Nav1	A	G	1: 135,584,913		silent	Het
Olfr512	A	G	7: 108,713,742	M118V	possibly damaging	Het
Pkhd1l1	T	A	15: 44,578,500	F3612I	probably damaging	Het
Ror2	C	T	13: 53,110,728	S764N	probably damaging	Het
S100pbp	A	T	4: 129,181,851		probably null	Het
Scnn1b	T	C	7: 121,917,523	I495T	probably damaging	Het
Sgo2b	A	C	8: 63,926,537	V1087G	probably damaging	Het
Sil1	A	T	18: 35,348,733	V91E	probably damaging	Het
Slc5a4b	A	G	10: 76,110,851	I29T	possibly damaging	Het
Spink5	A	T	18: 44,015,594	N908I	probably benign	Het
Svopl	A	C	6: 38,017,043	I351S	probably damaging	Het
Syngr3	A	G	17: 24,686,328	V198A	probably benign	Het
Tbck	C	A	3: 132,751,192	Y622*	probably null	Het
Tex33	A	G	15: 78,378,536	M245T	possibly damaging	Het
Tkt	T	A	14: 30,558,780	M56K	probably damaging	Het
Trip10	T	C	17: 57,263,135	V544A	probably damaging	Het
Txndc16	T	C	14: 45,172,538	E195G	probably damaging	Het
Vmn2r69	G	A	7: 85,409,806	P516S	probably damaging	Het
Vmn2r74	T	C	7: 85,957,373	N255S	probably benign	Het
Xpo4	T	C	14: 57,590,088	T884A	probably benign	Het
Zdhhc2	A	G	8: 40,462,114	N167S	probably damaging	Het

Other mutations in Piwil2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Piwil2	APN	14	70398218	missense	probably benign	0.35
IGL02215:Piwil2	APN	14	70391373	missense	possibly damaging	0.50
IGL02427:Piwil2	APN	14	70398134	splice site	probably benign
R0257:Piwil2	UTSW	14	70422631	missense	probably benign	0.00
R0566:Piwil2	UTSW	14	70410394	missense	probably damaging	0.99
R0800:Piwil2	UTSW	14	70409037	unclassified	probably benign
R0828:Piwil2	UTSW	14	70376017	missense	probably damaging	1.00
R0862:Piwil2	UTSW	14	70395374	missense	probably benign	0.00
R0864:Piwil2	UTSW	14	70395374	missense	probably benign	0.00
R0881:Piwil2	UTSW	14	70408927	missense	probably benign	0.34
R1734:Piwil2	UTSW	14	70426505	critical splice donor site	probably null
R1997:Piwil2	UTSW	14	70426658	missense	possibly damaging	0.90
R2011:Piwil2	UTSW	14	70426634	missense	probably damaging	1.00
R2043:Piwil2	UTSW	14	70391470	missense	probably benign	0.00
R2347:Piwil2	UTSW	14	70408917	missense	probably damaging	0.98
R2998:Piwil2	UTSW	14	70411238	missense	probably damaging	1.00
R4402:Piwil2	UTSW	14	70408916	missense	probably benign	0.01
R4455:Piwil2	UTSW	14	70390565	missense	probably benign	0.02
R4611:Piwil2	UTSW	14	70402197	missense	probably benign	0.07
R4763:Piwil2	UTSW	14	70376778	missense	probably damaging	1.00
R4869:Piwil2	UTSW	14	70395362	missense	probably benign	0.00
R5033:Piwil2	UTSW	14	70421593	missense	possibly damaging	0.71
R5207:Piwil2	UTSW	14	70392517	missense	probably damaging	1.00
R5395:Piwil2	UTSW	14	70395397	missense	probably benign	0.01
R5486:Piwil2	UTSW	14	70401431	missense	probably benign	0.01
R5504:Piwil2	UTSW	14	70389899	missense	probably benign	0.01
R5629:Piwil2	UTSW	14	70422967	missense	probably damaging	1.00
R5967:Piwil2	UTSW	14	70390564	missense	probably benign	0.00
R6167:Piwil2	UTSW	14	70422893	critical splice donor site	probably null
R6168:Piwil2	UTSW	14	70395351	missense	probably benign	0.04
R6517:Piwil2	UTSW	14	70374336	missense	probably benign	0.44
R7261:Piwil2	UTSW	14	70374411	missense	probably damaging	1.00
R7727:Piwil2	UTSW	14	70394057	missense	probably damaging	1.00
R7745:Piwil2	UTSW	14	70394189	missense	probably benign
R7833:Piwil2	UTSW	14	70395441	missense	probably benign	0.02
R8044:Piwil2	UTSW	14	70391438	missense	possibly damaging	0.90
R8066:Piwil2	UTSW	14	70420719	missense	probably benign	0.00
R8516:Piwil2	UTSW	14	70420739	missense	probably benign	0.19
R9015:Piwil2	UTSW	14	70390535	missense	probably benign	0.00
R9494:Piwil2	UTSW	14	70422972	missense	probably benign	0.05
X0023:Piwil2	UTSW	14	70398199	missense	probably benign

Posted On

2015-04-16