Incidental Mutation 'R2347:Piwil2'
ID 246014
Institutional Source Beutler Lab
Gene Symbol Piwil2
Ensembl Gene ENSMUSG00000033644
Gene Name piwi-like RNA-mediated gene silencing 2
Synonyms mili, Miwi like
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2347 (G1)
Quality Score 127
Status Not validated
Chromosome 14
Chromosomal Location 70609926-70666832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 70646366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 390 (D390G)
Ref Sequence ENSEMBL: ENSMUSP00000047385 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048129] [ENSMUST00000226229]
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: D390G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: D390G

DomainStartEndE-ValueType
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
Predicted Effect probably benign
Transcript: ENSMUST00000226229
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
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: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ces1a C T 8: 93,751,947 (GRCm39) V396M probably benign Het
Ddx6 A G 9: 44,518,888 (GRCm39) K67E probably benign Het
Fut2 T C 7: 45,299,752 (GRCm39) D340G probably damaging Het
Gm128 A G 3: 95,148,241 (GRCm39) Y18H probably benign Het
Gon4l A G 3: 88,770,824 (GRCm39) D502G probably damaging Het
Lman2 T A 13: 55,500,812 (GRCm39) N129I possibly damaging Het
Nsf C T 11: 103,821,578 (GRCm39) E26K possibly damaging Het
Or12j2 T A 7: 139,916,060 (GRCm39) M95K probably damaging Het
Or4c52 G T 2: 89,845,958 (GRCm39) R228L possibly damaging Het
Or8g21 A T 9: 38,905,805 (GRCm39) *309K probably null Het
Pappa2 C A 1: 158,592,613 (GRCm39) C1588F probably damaging Het
Rest A G 5: 77,416,440 (GRCm39) Y218C probably damaging Het
Other mutations in Piwil2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GGGGAGTCATCATACCTGGATC -3'
(R):5'- GTAAGTTTGTACTGACACCGATTTG -3'

Sequencing Primer
(F):5'- GGAGTCATCATACCTGGATCCAGTTC -3'
(R):5'- CTTCCTCATGATTATCAAGGAAGGGC -3'
Posted On 2014-10-30