Mutagenetix > Incidental Mutation

Incidental Mutation 'R7745:Piwil2'

596818

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

045801-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7745 (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 70631638 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 602 (H602L)

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: H602L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: H602L

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: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

96% (55/57)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 59,945,893 (GRCm39)	S188R	probably damaging	Het
Aars1	T	A	8: 111,768,289 (GRCm39)	I220N	probably damaging	Het
Abca15	A	G	7: 119,931,440 (GRCm39)	N16S	probably damaging	Het
Adck1	A	T	12: 88,423,570 (GRCm39)	M358L	probably benign	Het
Adck5	A	T	15: 76,478,748 (GRCm39)	Q345L	probably benign	Het
Adgrl2	A	G	3: 148,542,094 (GRCm39)	F876S	probably damaging	Het
Aebp2	T	A	6: 140,569,584 (GRCm39)	L55Q	unknown	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Aox3	T	C	1: 58,215,676 (GRCm39)	V1036A	possibly damaging	Het
Aox4	A	G	1: 58,279,866 (GRCm39)	D494G	probably benign	Het
Cacna1a	C	A	8: 85,286,023 (GRCm39)	H889Q	probably benign	Het
Cacna1c	T	C	6: 119,029,587 (GRCm39)	D151G		Het
Car8	A	G	4: 8,237,939 (GRCm39)	V92A	possibly damaging	Het
Ccdc8	G	T	7: 16,729,614 (GRCm39)	A368S	unknown	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cntnap5a	A	G	1: 116,370,013 (GRCm39)	I877V	probably benign	Het
Copa	A	T	1: 171,939,509 (GRCm39)	D582V	probably damaging	Het
Cpne2	T	G	8: 95,295,312 (GRCm39)	S466A	probably damaging	Het
Crybg2	A	G	4: 133,816,156 (GRCm39)	K1311R	possibly damaging	Het
Csmd1	A	G	8: 15,982,461 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,342,144 (GRCm39)	C2947*	probably null	Het
Exoc1	A	T	5: 76,709,359 (GRCm39)	K656*	probably null	Het
Exoc8	T	C	8: 125,622,558 (GRCm39)	N603S	probably benign	Het
Fam171a1	T	A	2: 3,226,483 (GRCm39)	C539S	possibly damaging	Het
Fastkd5	A	T	2: 130,456,988 (GRCm39)	I534K	probably damaging	Het
Fbn1	T	C	2: 125,145,115 (GRCm39)	D2708G	probably benign	Het
Fhad1	A	G	4: 141,618,250 (GRCm39)	L1392P	probably benign	Het
Fras1	A	T	5: 96,874,754 (GRCm39)	T2306S	probably benign	Het
Gdf7	G	T	12: 8,351,854 (GRCm39)	A27E	unknown	Het
Hnrnph1	A	T	11: 50,270,324 (GRCm39)	I43F	probably damaging	Het
Igkv8-27	T	A	6: 70,148,999 (GRCm39)	S52C	probably benign	Het
Jmjd1c	T	C	10: 67,052,824 (GRCm39)	F24L	probably damaging	Het
Knl1	T	G	2: 118,902,037 (GRCm39)	L1246R	probably benign	Het
Limk2	C	T	11: 3,305,896 (GRCm39)	S191N	probably damaging	Het
Mdga2	C	A	12: 66,736,125 (GRCm39)	A368S	possibly damaging	Het
Mdga2	G	A	12: 66,736,124 (GRCm39)	A368V	probably damaging	Het
Med24	A	T	11: 98,595,793 (GRCm39)	L966Q	probably damaging	Het
Mgll	T	C	6: 88,702,770 (GRCm39)	V23A	possibly damaging	Het
Nedd1	C	T	10: 92,550,034 (GRCm39)	D84N	probably benign	Het
Obscn	A	C	11: 58,951,681 (GRCm39)	L4024R	probably damaging	Het
Or5k1b	A	T	16: 58,580,782 (GRCm39)	Y252*	probably null	Het
Pcnx2	T	C	8: 126,577,846 (GRCm39)	I944V	probably benign	Het
Pecr	T	C	1: 72,306,157 (GRCm39)		probably null	Het
Phf3	A	T	1: 30,843,305 (GRCm39)	W1885R	probably damaging	Het
Pitpnm2	C	G	5: 124,266,768 (GRCm39)	A697P	probably benign	Het
Pprc1	T	C	19: 46,053,781 (GRCm39)	S1104P	unknown	Het
Prkar1a	T	A	11: 109,544,673 (GRCm39)	Y21*	probably null	Het
Prl2c3	A	T	13: 12,813,186 (GRCm39)	Y9*	probably null	Het
Rhbdl3	T	A	11: 80,214,405 (GRCm39)	L172Q	possibly damaging	Het
Rsph3a	T	G	17: 8,198,075 (GRCm39)	L484W	probably damaging	Het
Sbno1	A	T	5: 124,530,962 (GRCm39)	S809T	probably benign	Het
Stmnd1	T	A	13: 46,453,077 (GRCm39)	V251E	possibly damaging	Het
Stt3a	A	T	9: 36,662,535 (GRCm39)	C241*	probably null	Het
Tas2r114	A	T	6: 131,666,401 (GRCm39)	M209K	probably damaging	Het
Tchh	G	T	3: 93,352,084 (GRCm39)	R508L	unknown	Het
Tgfbr3l	T	C	8: 4,300,622 (GRCm39)	S267P	possibly damaging	Het
Ttn	T	A	2: 76,598,144 (GRCm39)	I19590F	probably damaging	Het
Vmn1r171	A	G	7: 23,332,035 (GRCm39)	T87A	probably benign	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
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'- TTACCTCAACTCCCAGTAAGGAC -3'
(R):5'- GGTTGTTGTGGCCATATGTAAAA -3'

Sequencing Primer
(F):5'- CCGGCAATCTTTTCCAAC -3'
(R):5'- TGTATAGATGCGCTCAACCC -3'

Posted On

2019-11-26