Mutagenetix > Incidental Mutation

Incidental Mutation 'R9015:Piwil2'

685945

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

068845-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70609926-70666832 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70627984 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 762 (I762L)

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: I762L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: I762L

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,136,688 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,150,847 (GRCm39)	D335G	probably damaging	Het
Adcy8	T	C	15: 64,597,206 (GRCm39)		probably benign	Het
Alas1	A	T	9: 106,113,670 (GRCm39)	I525N	probably benign	Het
Aoah	A	T	13: 21,184,197 (GRCm39)		silent	Het
Aox1	G	A	1: 58,382,851 (GRCm39)	V1044M	probably damaging	Het
Apcdd1	A	T	18: 63,083,157 (GRCm39)	Y329F	possibly damaging	Het
Arhgap10	A	C	8: 77,985,687 (GRCm39)	C727G	probably benign	Het
Arid4a	G	A	12: 71,122,168 (GRCm39)	D528N	possibly damaging	Het
Atp8a1	A	G	5: 67,887,250 (GRCm39)	V611A		Het
BC004004	T	C	17: 29,517,637 (GRCm39)	F284L	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,244,264 (GRCm39)	I1397M	probably benign	Het
Cep63	A	G	9: 102,496,111 (GRCm39)	S99P	probably damaging	Het
Coq3	T	A	4: 21,899,107 (GRCm39)	S147T	probably benign	Het
Crym	A	T	7: 119,801,090 (GRCm39)	S20T	probably benign	Het
Ctr9	T	A	7: 110,643,108 (GRCm39)	N493K	probably benign	Het
Dchs2	A	G	3: 83,188,751 (GRCm39)	I1372V	possibly damaging	Het
Ddi2	G	A	4: 141,412,747 (GRCm39)	T55M	probably benign	Het
Dnah1	T	C	14: 30,986,316 (GRCm39)	M3724V	probably damaging	Het
Dst	A	G	1: 34,326,337 (GRCm39)	I4690V	probably benign	Het
Ect2l	T	C	10: 18,039,148 (GRCm39)	T429A	probably benign	Het
Eif3c	G	T	7: 126,155,538 (GRCm39)	H577N	probably damaging	Het
Erg	A	G	16: 95,162,126 (GRCm39)	S334P	possibly damaging	Het
Faf2	A	G	13: 54,796,139 (GRCm39)	S127G	probably benign	Het
Fbxl3	T	A	14: 103,329,790 (GRCm39)	T141S	possibly damaging	Het
Fbxw4	T	A	19: 45,624,874 (GRCm39)	M122L	probably benign	Het
Fgd4	T	C	16: 16,271,941 (GRCm39)	M476V	probably damaging	Het
Flvcr2	A	T	12: 85,829,779 (GRCm39)	I263F	probably benign	Het
Gadl1	A	T	9: 115,794,705 (GRCm39)	R293S	probably benign	Het
Gm11983	G	T	11: 6,787,033 (GRCm39)	F31L	unknown	Het
Gmnn	A	T	13: 24,940,638 (GRCm39)	N70K	probably benign	Het
Gpr3	A	G	4: 132,938,390 (GRCm39)	V94A	possibly damaging	Het
Greb1l	A	G	18: 10,541,675 (GRCm39)	S1141G	probably benign	Het
Helz2	A	T	2: 180,870,792 (GRCm39)	V2892E	probably damaging	Het
Hivep1	T	A	13: 42,311,849 (GRCm39)	M1363K	probably benign	Het
Hk1	T	A	10: 62,128,118 (GRCm39)	T336S	possibly damaging	Het
Hpgds	A	T	6: 65,115,229 (GRCm39)	I18N	possibly damaging	Het
Insrr	T	A	3: 87,720,910 (GRCm39)	L1056Q	probably damaging	Het
Ints10	A	G	8: 69,260,139 (GRCm39)	M288V	probably benign	Het
Itgb6	T	C	2: 60,485,032 (GRCm39)	D237G	probably damaging	Het
Kcnf1	A	G	12: 17,225,303 (GRCm39)	I306T	probably damaging	Het
Kdm3b	G	A	18: 34,963,212 (GRCm39)	G1556D	probably damaging	Het
Kif5b	A	G	18: 6,216,892 (GRCm39)	L477P	probably damaging	Het
Klf5	T	G	14: 99,540,919 (GRCm39)	*310G	probably null	Het
Lnx1	A	G	5: 74,780,783 (GRCm39)	V246A	probably benign	Het
Ly75	C	T	2: 60,146,442 (GRCm39)	E1279K	probably benign	Het
Lztr1	T	A	16: 17,337,305 (GRCm39)	C233S	probably benign	Het
Mfsd6l	T	G	11: 68,447,536 (GRCm39)	I129S	probably benign	Het
Mrgprx2	T	A	7: 48,148,938 (GRCm39)		probably benign	Het
Ncapd2	A	T	6: 125,145,285 (GRCm39)		probably benign	Het
Or10ag53	T	A	2: 87,082,546 (GRCm39)	Y88*	probably null	Het
Or12e9	T	A	2: 87,202,485 (GRCm39)	M203K	possibly damaging	Het
Or2a25	G	T	6: 42,888,825 (GRCm39)	V123L	possibly damaging	Het
Or8g30	A	C	9: 39,230,019 (GRCm39)	V297G	probably damaging	Het
Pde6a	A	G	18: 61,397,047 (GRCm39)	H631R	probably damaging	Het
Pfkl	C	T	10: 77,824,794 (GRCm39)	G665D	probably damaging	Het
Pik3ap1	T	A	19: 41,270,430 (GRCm39)	E753V	probably damaging	Het
Pik3cd	G	T	4: 149,740,055 (GRCm39)	R502S	probably benign	Het
Pkd1	T	A	17: 24,784,636 (GRCm39)	L394*	probably null	Het
Plekhb2	A	G	1: 34,916,046 (GRCm39)	D195G	probably benign	Het
Plppr5	T	C	3: 117,456,103 (GRCm39)	M208T	probably damaging	Het
Polr2i	G	A	7: 29,932,513 (GRCm39)	V115I	unknown	Het
Prkacb	T	C	3: 146,456,239 (GRCm39)	S187G	probably null	Het
Prkag3	G	T	1: 74,780,353 (GRCm39)	H437Q	probably benign	Het
Prlr	T	A	15: 10,319,352 (GRCm39)	Y94N	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Psd4	A	G	2: 24,287,492 (GRCm39)	R475G		Het
Rad51b	G	A	12: 79,347,417 (GRCm39)	C27Y	probably damaging	Het
Scfd2	A	G	5: 74,691,625 (GRCm39)	L219P	probably damaging	Het
Scn5a	G	A	9: 119,381,142 (GRCm39)		probably benign	Het
Sec24d	T	C	3: 123,121,287 (GRCm39)	V391A	probably benign	Het
Selenbp2	T	A	3: 94,607,332 (GRCm39)	L251Q	probably damaging	Het
Sh3rf1	T	C	8: 61,827,202 (GRCm39)	V652A	probably benign	Het
Slc11a2	A	G	15: 100,301,186 (GRCm39)	V289A	probably benign	Het
Smim29	T	C	17: 27,783,223 (GRCm39)	D48G	probably benign	Het
Sox8	T	A	17: 25,789,135 (GRCm39)	Y121F	probably damaging	Het
Taar7a	A	T	10: 23,868,733 (GRCm39)	I216N	probably damaging	Het
Tanc1	T	A	2: 59,622,224 (GRCm39)	S448T	probably benign	Het
Tas2r119	G	A	15: 32,178,226 (GRCm39)	G264D	probably damaging	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Trim17	A	G	11: 58,856,057 (GRCm39)	E38G	probably damaging	Het
Trub2	A	T	2: 29,668,276 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,571,964 (GRCm39)	M26310L	probably damaging	Het
Unc13c	T	G	9: 73,453,322 (GRCm39)	I1823L	probably benign	Het
Vav2	C	A	2: 27,160,151 (GRCm39)	E728*	probably null	Het
Virma	A	G	4: 11,540,494 (GRCm39)	D1465G	probably benign	Het
Vmn2r72	T	G	7: 85,398,388 (GRCm39)	M531L	probably benign	Het
Vwa3b	G	A	1: 37,203,597 (GRCm39)	V59I	possibly damaging	Het
Xrcc1	G	A	7: 24,271,642 (GRCm39)	E542K	probably benign	Het
Zdhhc6	T	G	19: 55,287,318 (GRCm39)	T381P	probably benign	Het
Zdhhc8	T	C	16: 18,041,141 (GRCm39)	S740G	probably damaging	Het
Zfp106	T	C	2: 120,364,019 (GRCm39)	K819R	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
R5395:Piwil2	UTSW	14	70,632,846 (GRCm39)	missense	probably benign	0.01
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
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'- TAACACAAGGCACTGGCAGC -3'
(R):5'- GGCCTGCTTTACCTTGAGATAAC -3'

Sequencing Primer
(F):5'- CCTGCCAAAGGTGCAGAGTAC -3'
(R):5'- TTACCTTGAGATAACAAAGATGGAGC -3'

Posted On

2021-10-11