Mutagenetix > Incidental Mutation

Incidental Mutation 'R7833:Piwil2'

605807

Institutional Source

Beutler Lab

Gene Symbol

Piwil2

Ensembl Gene

ENSMUSG00000033644

Gene Name

piwi-like RNA-mediated gene silencing 2

Synonyms

Miwi like, mili

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7833 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70372477-70429383 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70395441 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 561 (I561F)

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: I561F

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: I561F

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

Meta Mutation Damage Score

0.0625

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (71/71)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aaed1	T	C	13: 64,312,278	S84G	probably benign	Het
Acin1	A	T	14: 54,664,602	S578T	possibly damaging	Het
Acot5	A	G	12: 84,075,827	Q395R	probably damaging	Het
Adamts15	T	A	9: 30,922,105	T45S	probably benign	Het
Agbl2	A	G	2: 90,815,433	K837E	probably benign	Het
Atf2	T	C	2: 73,853,885	T19A	possibly damaging	Het
Atp6v0a2	T	C	5: 124,645,031	V238A	probably damaging	Het
Atp9a	A	T	2: 168,674,857	V430E	probably benign	Het
Cachd1	G	A	4: 100,974,815	V725I	probably benign	Het
Ccnb1	G	A	13: 100,781,351	T247M	probably damaging	Het
Cd40	A	T	2: 165,066,511	D169V	probably benign	Het
Cdc25c	G	A	18: 34,747,243	T146I	probably benign	Het
Ceacam3	C	A	7: 17,159,853	Q430K		Het
Cerkl	G	A	2: 79,341,380	T378I	probably benign	Het
Cpn2	G	T	16: 30,260,345	N179K	probably damaging	Het
Duox1	A	G	2: 122,324,388	D418G	probably damaging	Het
Eps8l1	C	A	7: 4,468,867	P11T	possibly damaging	Het
Erc1	C	T	6: 119,824,486	W190*	probably null	Het
Exosc7	A	T	9: 123,130,919	E195V	probably benign	Het
F2rl2	A	G	13: 95,700,918	N157S	probably damaging	Het
Fgd2	T	C	17: 29,367,395	L270P	possibly damaging	Het
Fitm2	A	T	2: 163,470,099	W65R	probably damaging	Het
Gabbr1	T	G	17: 37,056,969	I437S	possibly damaging	Het
Galntl6	A	T	8: 57,857,537	S377T	probably benign	Het
Gm17727	T	A	9: 35,777,110	S60C	probably damaging	Het
Gm21936	G	A	12: 87,795,552	R14K	unknown	Het
Gm281	A	T	14: 13,896,968		probably null	Het
Gm340	A	G	19: 41,584,585	D593G	probably benign	Het
Gml2	T	A	15: 74,821,368	C73*	probably null	Het
Htr6	G	T	4: 139,061,831	F304L	probably damaging	Het
Hydin	G	A	8: 110,589,460	G4328D	probably damaging	Het
Kcnj14	T	C	7: 45,817,893	D343G	probably damaging	Het
Klhdc1	T	A	12: 69,283,168	I357N	probably benign	Het
Man2a1	A	G	17: 64,666,751	T341A	probably damaging	Het
Mrm1	A	C	11: 84,818,643	V196G	probably damaging	Het
Mybbp1a	A	G	11: 72,442,901		probably null	Het
Myo19	G	A	11: 84,909,267	C826Y	probably benign	Het
Nbea	A	G	3: 56,002,797	W1326R	probably damaging	Het
Notch1	A	G	2: 26,459,533	*2532Q	probably null	Het
Npas2	A	G	1: 39,326,147	Y287C	probably damaging	Het
Olfr1016	T	A	2: 85,799,949	D107V	probably benign	Het
Olfr401	G	A	11: 74,121,837	D183N	probably damaging	Het
Pcdhga7	C	A	18: 37,716,024	D361E	possibly damaging	Het
Pde10a	T	A	17: 8,961,920	Y447N	possibly damaging	Het
Pml	C	A	9: 58,234,685	R288L	probably benign	Het
Ppp4r4	A	G	12: 103,598,148	T591A	probably benign	Het
Ptprb	A	G	10: 116,315,251	T273A	probably benign	Het
Ptpro	T	A	6: 137,416,863	L843*	probably null	Het
Qrfpr	T	C	3: 36,189,602	I117V	probably benign	Het
Qrich2	T	C	11: 116,455,765	D1411G	probably benign	Het
Rad51ap2	T	C	12: 11,456,655	S193P	probably benign	Het
Raver1	T	C	9: 21,081,314	E273G	probably benign	Het
Rubcn	C	A	16: 32,868,274		probably benign	Het
S1pr4	C	T	10: 81,498,492	V383I	possibly damaging	Het
Scn7a	T	C	2: 66,676,150	D1465G	probably damaging	Het
Smarca4	T	A	9: 21,647,359	D607E	possibly damaging	Het
Srbd1	T	A	17: 85,985,454	I896L	possibly damaging	Het
Sulf2	G	T	2: 166,079,536	N722K	possibly damaging	Het
Surf1	A	G	2: 26,916,268	Y22H	probably benign	Het
Syngr2	A	G	11: 117,813,156	T150A	probably benign	Het
Szt2	G	T	4: 118,366,219	H3056N	unknown	Het
Tmf1	A	T	6: 97,161,411	S849T	probably benign	Het
Tns1	T	A	1: 74,091,331		probably benign	Het
Trio	G	T	15: 27,774,086	P1764Q	probably damaging	Het
Trpc3	A	T	3: 36,640,672	V711D	probably damaging	Het
Ttll3	G	T	6: 113,409,337	K710N	probably damaging	Het
Unc13c	A	G	9: 73,481,109	S2132P	possibly damaging	Het
Utp20	G	A	10: 88,801,136	P738S	possibly damaging	Het
Vmn2r76	C	T	7: 86,228,684	V502I	probably benign	Het
Vsig1	C	T	X: 140,933,126	H232Y	probably benign	Het
Wdr64	T	G	1: 175,763,945	F390V	probably damaging	Het
Ybx3	T	G	6: 131,367,863	T341P	possibly damaging	Het
Zdhhc11	C	A	13: 73,973,747	Q126K	possibly damaging	Het
Zfp777	G	A	6: 48,025,138	P673S	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
IGL02554:Piwil2	APN	14	70391486	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
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
R9695:Piwil2	UTSW	14	70389900	missense	possibly damaging	0.66
X0023:Piwil2	UTSW	14	70398199	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTCAGAGGAGACACCAGATC -3'
(R):5'- TTGAGCCACAGTGCAGAGAC -3'

Sequencing Primer
(F):5'- AGATCACCCATTTCCACACTCTGG -3'
(R):5'- CCACAGTGCAGAGACCATGTG -3'

Posted On

2019-12-20