Incidental Mutation 'R5207:Piwil2'
| ID |
402104 |
| 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 |
042782-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5207 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
70609926-70666832 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70629966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 683
(K683E)
|
| 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: K683E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000047385
Gene: ENSMUSG00000033644
AA Change: K683E
| 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 |
|
| Meta Mutation Damage Score |
0.8900 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
97% (60/62) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
T |
1: 179,621,159 (GRCm39) |
|
probably benign |
Het |
| Alg6 |
C |
T |
4: 99,607,431 (GRCm39) |
L15F |
possibly damaging |
Het |
| Allc |
T |
A |
12: 28,605,325 (GRCm39) |
M325L |
probably benign |
Het |
| Ap3b2 |
T |
C |
7: 81,126,517 (GRCm39) |
N361S |
possibly damaging |
Het |
| Bmp8b |
A |
G |
4: 123,009,714 (GRCm39) |
|
probably benign |
Het |
| Borcs6 |
A |
T |
11: 68,951,674 (GRCm39) |
T351S |
probably damaging |
Het |
| Ccar1 |
T |
C |
10: 62,589,060 (GRCm39) |
R808G |
unknown |
Het |
| Celsr3 |
A |
T |
9: 108,709,958 (GRCm39) |
T1480S |
probably benign |
Het |
| Chdh |
C |
T |
14: 29,753,318 (GRCm39) |
P76S |
probably damaging |
Het |
| Chmp7 |
T |
C |
14: 69,969,755 (GRCm39) |
S62G |
probably benign |
Het |
| Cldn23 |
A |
T |
8: 36,293,182 (GRCm39) |
V102E |
probably damaging |
Het |
| Csn2 |
G |
A |
5: 87,842,821 (GRCm39) |
Q69* |
probably null |
Het |
| Ctrc |
A |
C |
4: 141,567,695 (GRCm39) |
I136S |
probably damaging |
Het |
| Cysltr2 |
A |
C |
14: 73,266,951 (GRCm39) |
L253R |
probably damaging |
Het |
| Ddr2 |
G |
A |
1: 169,812,530 (GRCm39) |
T654M |
probably damaging |
Het |
| Derl2 |
G |
T |
11: 70,910,073 (GRCm39) |
|
probably null |
Het |
| Dnai7 |
A |
T |
6: 145,124,794 (GRCm39) |
D510E |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,013,733 (GRCm39) |
S1330G |
probably benign |
Het |
| Emp3 |
T |
C |
7: 45,569,373 (GRCm39) |
N56S |
probably benign |
Het |
| Fam161a |
A |
T |
11: 22,970,583 (GRCm39) |
K195* |
probably null |
Het |
| Ficd |
T |
A |
5: 113,875,072 (GRCm39) |
V47E |
probably benign |
Het |
| Garin3 |
T |
C |
11: 46,295,990 (GRCm39) |
S121P |
probably benign |
Het |
| Gbp10 |
T |
C |
5: 105,372,575 (GRCm39) |
T123A |
probably benign |
Het |
| Gdf7 |
C |
T |
12: 8,348,371 (GRCm39) |
A309T |
unknown |
Het |
| Gm14486 |
G |
T |
2: 30,548,572 (GRCm39) |
|
noncoding transcript |
Het |
| Herc1 |
T |
A |
9: 66,307,151 (GRCm39) |
C990* |
probably null |
Het |
| Itgb4 |
T |
C |
11: 115,897,365 (GRCm39) |
V1530A |
probably damaging |
Het |
| Itpka |
G |
A |
2: 119,580,974 (GRCm39) |
R374H |
probably damaging |
Het |
| Lacc1 |
T |
A |
14: 77,271,594 (GRCm39) |
|
probably null |
Het |
| Med23 |
A |
T |
10: 24,771,734 (GRCm39) |
K225* |
probably null |
Het |
| Mrgpra3 |
T |
A |
7: 47,239,909 (GRCm39) |
T6S |
probably benign |
Het |
| Mroh7 |
T |
A |
4: 106,578,583 (GRCm39) |
N32Y |
probably damaging |
Het |
| Mrps2 |
A |
G |
2: 28,359,763 (GRCm39) |
R207G |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,969,823 (GRCm39) |
|
probably null |
Het |
| Nagpa |
A |
G |
16: 5,017,478 (GRCm39) |
|
probably null |
Het |
| Nek3 |
A |
T |
8: 22,622,243 (GRCm39) |
|
probably benign |
Het |
| Nes |
G |
A |
3: 87,885,935 (GRCm39) |
G1398E |
probably damaging |
Het |
| Nf1 |
G |
T |
11: 79,345,015 (GRCm39) |
V1323L |
probably damaging |
Het |
| Or5b96 |
T |
A |
19: 12,867,801 (GRCm39) |
I47F |
probably benign |
Het |
| Or6b2 |
A |
T |
1: 92,407,594 (GRCm39) |
F250I |
probably benign |
Het |
| Or6c2 |
T |
C |
10: 129,362,773 (GRCm39) |
F226L |
probably benign |
Het |
| Paqr8 |
G |
T |
1: 21,005,482 (GRCm39) |
C212F |
probably benign |
Het |
| Pcdhb1 |
T |
C |
18: 37,399,515 (GRCm39) |
Y489H |
probably damaging |
Het |
| Pjvk |
A |
C |
2: 76,480,734 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
A |
T |
8: 110,359,823 (GRCm39) |
S893C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,471,207 (GRCm39) |
T993A |
probably benign |
Het |
| Ppp2r2b |
A |
T |
18: 42,821,417 (GRCm39) |
I247N |
probably damaging |
Het |
| Rac2 |
T |
C |
15: 78,449,654 (GRCm39) |
N92S |
probably damaging |
Het |
| Senp2 |
A |
T |
16: 21,860,130 (GRCm39) |
H501L |
possibly damaging |
Het |
| Snx29 |
A |
T |
16: 11,556,227 (GRCm39) |
I753F |
probably damaging |
Het |
| Tcf20 |
T |
A |
15: 82,740,386 (GRCm39) |
H355L |
probably damaging |
Het |
| Tex2 |
T |
C |
11: 106,437,666 (GRCm39) |
D668G |
unknown |
Het |
| Tlr12 |
G |
A |
4: 128,510,502 (GRCm39) |
Q583* |
probably null |
Het |
| Tmem119 |
T |
C |
5: 113,933,289 (GRCm39) |
I171V |
probably damaging |
Het |
| Ube2m |
C |
T |
7: 12,770,249 (GRCm39) |
|
probably null |
Het |
| Vmn2r25 |
A |
T |
6: 123,817,062 (GRCm39) |
I173N |
probably damaging |
Het |
| Whrn |
A |
T |
4: 63,350,951 (GRCm39) |
V15E |
probably damaging |
Het |
| Zfp558 |
A |
C |
9: 18,368,296 (GRCm39) |
V164G |
possibly 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 |
|
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'- GAACCTTCGGTGTAAAGCTCCAC -3'
(R):5'- TGTTTGTGAACAGCAGCCCC -3'
Sequencing Primer
(F):5'- GTGTAAAGCTCCACCAACGC -3'
(R):5'- AGAATGATTCTGGTTGGAATGTCCAC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation