Mutagenetix > Incidental Mutation

Incidental Mutation 'R7727:Piwil2'

595582

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 #

R7727 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70372477-70429383 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 70394057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 646 (R646Q)

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 damaging
Transcript: ENSMUST00000048129
AA Change: R646Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: R646Q

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

100% (69/69)

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210010C04Rik	C	A	6: 41,033,193	R69L	probably benign	Het
Adamts5	A	T	16: 85,899,966	L101Q	probably damaging	Het
Arhgap18	A	T	10: 26,870,011	I293F	possibly damaging	Het
Atp8b1	T	A	18: 64,545,275	Q850L	probably damaging	Het
B4galnt3	A	T	6: 120,225,187	F118Y	probably benign	Het
Bcl6	A	G	16: 23,971,413		probably null	Het
Cc2d2b	T	A	19: 40,756,530	L31Q	probably benign	Het
Cd5l	G	T	3: 87,367,855	E234*	probably null	Het
Cfap65	T	C	1: 74,926,625	T409A	probably benign	Het
Chst5	A	T	8: 111,890,925	I21N	probably benign	Het
Cldn20	T	C	17: 3,532,755	Y68H	probably benign	Het
Col4a4	T	C	1: 82,528,793	M269V	unknown	Het
Dgkh	A	G	14: 78,595,145		probably null	Het
Dpp6	A	G	5: 27,451,244	T166A	probably benign	Het
Drosha	A	G	15: 12,881,645	D754G	probably damaging	Het
Epb41l4a	C	A	18: 33,854,273	K350N	probably damaging	Het
Fsd1	T	G	17: 55,988,150	D46E	probably benign	Het
Gabra1	T	C	11: 42,133,591	D419G	probably damaging	Het
Golga4	T	A	9: 118,548,702	D458E	probably damaging	Het
Grm6	C	A	11: 50,851,542	A134E	probably benign	Het
Ikzf1	T	A	11: 11,748,339	S63R	probably damaging	Het
Ilvbl	G	A	10: 78,576,666	V74I	probably benign	Het
Kcng2	C	T	18: 80,296,090	V328M	probably benign	Het
Kpna7	T	C	5: 145,005,045	E145G	probably benign	Het
Krt81	A	G	15: 101,459,567	V428A	probably damaging	Het
Lalba	T	C	15: 98,482,668	M2V	probably benign	Het
Lrpprc	T	C	17: 84,776,947	S113G	probably benign	Het
Mboat1	A	C	13: 30,226,306	M249L	probably benign	Het
Meltf	T	C	16: 31,883,794	V113A	probably damaging	Het
Muc16	T	A	9: 18,660,242	H327L	unknown	Het
Myh1	A	G	11: 67,215,922	I1277V	probably benign	Het
Naf1	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC	8: 66,860,548		probably benign	Het
Naga	C	A	15: 82,330,147	V388L	probably benign	Het
Nfkb1	A	C	3: 135,585,401	M957R	possibly damaging	Het
Nol12	C	A	15: 78,940,593	S157*	probably null	Het
Olfr1000	A	G	2: 85,608,407	F168L	possibly damaging	Het
Olfr1038-ps	A	T	2: 86,122,496	D191V	possibly damaging	Het
Olfr272	A	G	4: 52,911,368	V142A	possibly damaging	Het
Pcdhga5	T	C	18: 37,695,045	V182A	probably benign	Het
Pik3r4	A	G	9: 105,669,882	E953G	probably damaging	Het
Plxnc1	T	C	10: 94,944,109	H157R	probably damaging	Het
Prrg4	A	T	2: 104,839,378	F131L	probably benign	Het
Rab28	A	G	5: 41,707,970	S4P	probably damaging	Het
Ranbp2	C	A	10: 58,455,438	Q209K	probably benign	Het
Schip1	G	A	3: 68,064,984	D15N	probably benign	Het
Serpina3f	T	G	12: 104,218,218	M207R	probably benign	Het
Sgsm1	A	T	5: 113,274,327	M487K	possibly damaging	Het
Sh3tc2	A	T	18: 61,989,580	I471F	probably benign	Het
Slamf1	G	A	1: 171,774,899	V65I	possibly damaging	Het
Slit3	T	C	11: 35,684,044	C1062R	probably damaging	Het
Snapc4	T	G	2: 26,373,434	K344N	probably damaging	Het
Sorl1	A	G	9: 41,984,526	Y1778H	probably damaging	Het
Spon2	G	A	5: 33,215,675	R228C	probably damaging	Het
Sv2c	A	G	13: 95,976,695	I582T	possibly damaging	Het
Tamm41	C	T	6: 115,016,178	V205M	probably damaging	Het
Tmem2	C	T	19: 21,829,957	L917F	probably benign	Het
Trpm2	T	C	10: 77,925,789	D1009G	probably benign	Het
Trpm6	T	C	19: 18,854,249	S1493P	probably damaging	Het
Ttc34	G	A	4: 154,839,274	V147I	possibly damaging	Het
Uba2	C	T	7: 34,150,850	A393T	probably damaging	Het
Ubn2	T	A	6: 38,463,938	N416K	probably benign	Het
Uevld	T	C	7: 46,943,805	N233S	probably benign	Het
Upp2	G	A	2: 58,774,148	M142I	possibly damaging	Het
Vps52	T	A	17: 33,962,134	V450D	probably benign	Het
Wdr31	A	T	4: 62,460,636	F118Y	probably damaging	Het
Zcchc6	A	G	13: 59,799,682	F942L	probably benign	Het
Zfp110	T	A	7: 12,848,995	D523E	possibly damaging	Het
Zfp367	A	T	13: 64,145,643	V143D	probably damaging	Het
Zfp950	T	C	19: 61,119,941	I235V	probably benign	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
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
R9695:Piwil2	UTSW	14	70389900	missense	possibly damaging	0.66
X0023:Piwil2	UTSW	14	70398199	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGTTCCTGAGCACAACATGTTC -3'
(R):5'- CCCAAGTCTAAATATACCATGTTCTTG -3'

Sequencing Primer
(F):5'- GTTCCTGAGCACAACATGTTCTACAG -3'
(R):5'- GTTCCTAGATTCCCATGCATTTCTGG -3'

Posted On

2019-11-12