Incidental Mutation 'R2998:Piwil2'
ID 257221
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 # R2998 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 70609926-70666832 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 70648687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 251 (C251S)
Ref Sequence ENSEMBL: ENSMUSP00000154615 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048129] [ENSMUST00000226229]
AlphaFold Q8CDG1
Predicted Effect probably benign
Transcript: ENSMUST00000048129
AA Change: C251S

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: C251S

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 damaging
Transcript: ENSMUST00000226229
AA Change: C251S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.5%
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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C3 T A 17: 57,517,284 (GRCm39) T1284S probably benign Het
Fggy T C 4: 95,737,822 (GRCm39) C140R probably benign Het
Klk1b26 A T 7: 43,666,222 (GRCm39) I222F probably benign Het
Or5al7 T A 2: 85,992,364 (GRCm39) I310L probably benign Het
Pop7 T C 5: 137,500,225 (GRCm39) D36G probably damaging Het
Rad51b T A 12: 79,349,263 (GRCm39) L33H probably damaging Het
Rtl1 T C 12: 109,561,530 (GRCm39) E103G probably damaging Het
Slc13a2 T C 11: 78,295,611 (GRCm39) D85G probably damaging Het
Stat1 T A 1: 52,190,408 (GRCm39) N548K probably benign Het
Uggt2 A T 14: 119,286,797 (GRCm39) Y683N 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
R2347:Piwil2 UTSW 14 70,646,366 (GRCm39) missense probably damaging 0.98
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'- AATGTGTACTTTGCCACTACTCAAC -3'
(R):5'- ACTAGGTGGAGTGCAGGTAC -3'

Sequencing Primer
(F):5'- TTGCCACTACTCAACCCCTCAG -3'
(R):5'- AGTTTCCTCTCCGAAAGTCCC -3'
Posted On 2015-01-11