Incidental Mutation 'R5355:Pwp2'
| ID |
424049 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwp2
|
| Ensembl Gene |
ENSMUSG00000032834 |
| Gene Name |
PWP2 periodic tryptophan protein homolog (yeast) |
| Synonyms |
Pwp2, Pwp2h, 6530411D08Rik |
| MMRRC Submission |
042934-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.780)
|
| Stock # |
R5355 (G1)
|
| Quality Score |
215 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
78006743-78020983 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 78011378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 672
(I672M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045812
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042556]
|
| AlphaFold |
Q8BU03 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000042556
AA Change: I672M
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000045812
Gene: ENSMUSG00000032834
AA Change: I672M
| Domain | Start | End | E-Value | Type |
|---|
|
WD40
|
43 |
83 |
1.47e2 |
SMART |
|
WD40
|
86 |
123 |
1.78e1 |
SMART |
|
WD40
|
133 |
172 |
5.35e-1 |
SMART |
|
WD40
|
177 |
216 |
8.29e-1 |
SMART |
|
low complexity region
|
239 |
254 |
N/A |
INTRINSIC |
|
WD40
|
273 |
316 |
1.9e2 |
SMART |
|
WD40
|
319 |
359 |
4.44e0 |
SMART |
|
WD40
|
362 |
401 |
7.44e-8 |
SMART |
|
WD40
|
404 |
443 |
3.87e-6 |
SMART |
|
WD40
|
446 |
487 |
5.7e1 |
SMART |
|
WD40
|
490 |
529 |
1.28e-11 |
SMART |
|
WD40
|
533 |
571 |
9.94e-1 |
SMART |
|
WD40
|
594 |
633 |
4.95e0 |
SMART |
|
WD40
|
692 |
729 |
2.21e1 |
SMART |
|
Pfam:Utp12
|
771 |
875 |
9.4e-25 |
PFAM |
|
low complexity region
|
890 |
902 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.1698 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.2%
|
| Validation Efficiency |
94% (50/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1a |
T |
C |
5: 8,776,873 (GRCm39) |
L857P |
probably damaging |
Het |
| Adam12 |
T |
C |
7: 133,489,671 (GRCm39) |
*582W |
probably null |
Het |
| Adra1d |
A |
G |
2: 131,403,007 (GRCm39) |
V361A |
probably damaging |
Het |
| Ank2 |
A |
G |
3: 126,737,698 (GRCm39) |
|
probably benign |
Het |
| Atxn10 |
T |
A |
15: 85,346,515 (GRCm39) |
N424K |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,637,860 (GRCm39) |
T111A |
probably benign |
Het |
| Ccdc168 |
A |
C |
1: 44,097,139 (GRCm39) |
C1320G |
possibly damaging |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdr2l |
T |
C |
11: 115,284,396 (GRCm39) |
V244A |
possibly damaging |
Het |
| Col11a2 |
A |
G |
17: 34,270,775 (GRCm39) |
M468V |
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,495,984 (GRCm39) |
R1535H |
probably damaging |
Het |
| Cryab |
A |
T |
9: 50,664,751 (GRCm39) |
S59C |
probably damaging |
Het |
| Cuzd1 |
G |
A |
7: 130,917,853 (GRCm39) |
T249I |
probably damaging |
Het |
| Disp2 |
G |
A |
2: 118,617,392 (GRCm39) |
V129M |
probably benign |
Het |
| Dlg2 |
G |
T |
7: 91,099,011 (GRCm39) |
R31L |
probably benign |
Het |
| Dthd1 |
A |
C |
5: 62,996,730 (GRCm39) |
L488F |
probably damaging |
Het |
| Dusp29 |
G |
A |
14: 21,727,091 (GRCm39) |
R186W |
probably benign |
Het |
| Fat2 |
T |
G |
11: 55,172,992 (GRCm39) |
I2574L |
probably damaging |
Het |
| Fchsd1 |
C |
T |
18: 38,092,926 (GRCm39) |
|
probably benign |
Het |
| Fryl |
T |
C |
5: 73,231,247 (GRCm39) |
D1610G |
probably damaging |
Het |
| Gm10330 |
T |
A |
12: 23,830,131 (GRCm39) |
N17Y |
probably damaging |
Het |
| Gm4787 |
T |
A |
12: 81,424,239 (GRCm39) |
R640* |
probably null |
Het |
| H2bc13 |
A |
T |
13: 21,900,030 (GRCm39) |
I95N |
probably damaging |
Het |
| Ift88 |
T |
A |
14: 57,675,699 (GRCm39) |
S71T |
probably benign |
Het |
| Isoc2b |
A |
G |
7: 4,852,357 (GRCm39) |
|
probably benign |
Het |
| Itgb2 |
G |
T |
10: 77,393,886 (GRCm39) |
R442L |
probably benign |
Het |
| Lama5 |
A |
T |
2: 179,823,444 (GRCm39) |
N2658K |
possibly damaging |
Het |
| Lemd3 |
A |
T |
10: 120,769,538 (GRCm39) |
I598K |
probably damaging |
Het |
| Lrp2 |
A |
T |
2: 69,285,182 (GRCm39) |
C3825* |
probably null |
Het |
| Mep1a |
T |
C |
17: 43,788,037 (GRCm39) |
D673G |
probably damaging |
Het |
| Met |
A |
G |
6: 17,491,361 (GRCm39) |
Y41C |
probably damaging |
Het |
| Mfn2 |
A |
G |
4: 147,979,035 (GRCm39) |
V99A |
probably damaging |
Het |
| Mmadhc |
A |
G |
2: 50,181,436 (GRCm39) |
I78T |
probably benign |
Het |
| Mmp9 |
C |
A |
2: 164,792,912 (GRCm39) |
P389T |
possibly damaging |
Het |
| Mvk |
T |
G |
5: 114,590,499 (GRCm39) |
S7A |
probably damaging |
Het |
| Nlrp1a |
T |
A |
11: 71,015,077 (GRCm39) |
T58S |
probably benign |
Het |
| Nlrp1c-ps |
C |
A |
11: 71,148,839 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h3 |
A |
G |
2: 91,022,253 (GRCm39) |
I125T |
possibly damaging |
Het |
| Or2a55-ps1 |
C |
T |
6: 43,071,598 (GRCm39) |
|
noncoding transcript |
Het |
| Or8k39 |
A |
T |
2: 86,563,680 (GRCm39) |
I92K |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,485,886 (GRCm39) |
I3T |
possibly damaging |
Het |
| Parp8 |
A |
G |
13: 116,998,740 (GRCm39) |
|
probably null |
Het |
| Parva |
T |
C |
7: 112,143,475 (GRCm39) |
|
probably null |
Het |
| Sfswap |
C |
T |
5: 129,616,810 (GRCm39) |
T418I |
probably benign |
Het |
| Slc6a3 |
A |
G |
13: 73,709,078 (GRCm39) |
Y334C |
probably damaging |
Het |
| Slc7a13 |
C |
A |
4: 19,839,267 (GRCm39) |
T290K |
probably benign |
Het |
| Spry2 |
A |
G |
14: 106,130,712 (GRCm39) |
L158P |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,847,342 (GRCm39) |
E150G |
probably damaging |
Het |
| Zfp747 |
A |
G |
7: 126,973,769 (GRCm39) |
F134L |
possibly damaging |
Het |
| Zp3r |
A |
G |
1: 130,524,518 (GRCm39) |
F175S |
probably benign |
Het |
| Zscan22 |
C |
A |
7: 12,640,435 (GRCm39) |
N67K |
probably benign |
Het |
|
| Other mutations in Pwp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01892:Pwp2
|
APN |
10 |
78,014,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02163:Pwp2
|
APN |
10 |
78,014,119 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL02280:Pwp2
|
APN |
10 |
78,019,934 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02558:Pwp2
|
APN |
10 |
78,014,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02560:Pwp2
|
APN |
10 |
78,014,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02583:Pwp2
|
APN |
10 |
78,016,917 (GRCm39) |
missense |
probably benign |
|
|
IGL02612:Pwp2
|
APN |
10 |
78,018,828 (GRCm39) |
missense |
probably damaging |
0.97 |
|
PIT4283001:Pwp2
|
UTSW |
10 |
78,020,921 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
PIT4449001:Pwp2
|
UTSW |
10 |
78,014,304 (GRCm39) |
missense |
probably benign |
0.38 |
|
R0573:Pwp2
|
UTSW |
10 |
78,018,520 (GRCm39) |
missense |
probably benign |
0.37 |
|
R1835:Pwp2
|
UTSW |
10 |
78,014,925 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2097:Pwp2
|
UTSW |
10 |
78,013,576 (GRCm39) |
splice site |
probably benign |
|
|
R2251:Pwp2
|
UTSW |
10 |
78,016,922 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2967:Pwp2
|
UTSW |
10 |
78,018,532 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4909:Pwp2
|
UTSW |
10 |
78,018,328 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R4950:Pwp2
|
UTSW |
10 |
78,018,840 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4970:Pwp2
|
UTSW |
10 |
78,009,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5015:Pwp2
|
UTSW |
10 |
78,018,527 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5390:Pwp2
|
UTSW |
10 |
78,013,605 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R5416:Pwp2
|
UTSW |
10 |
78,018,835 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5841:Pwp2
|
UTSW |
10 |
78,007,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5928:Pwp2
|
UTSW |
10 |
78,018,290 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6495:Pwp2
|
UTSW |
10 |
78,012,961 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6771:Pwp2
|
UTSW |
10 |
78,018,222 (GRCm39) |
splice site |
probably null |
|
|
R6848:Pwp2
|
UTSW |
10 |
78,020,127 (GRCm39) |
splice site |
probably null |
|
|
R6897:Pwp2
|
UTSW |
10 |
78,007,917 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7060:Pwp2
|
UTSW |
10 |
78,009,084 (GRCm39) |
splice site |
probably null |
|
|
R7269:Pwp2
|
UTSW |
10 |
78,012,170 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7367:Pwp2
|
UTSW |
10 |
78,018,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7368:Pwp2
|
UTSW |
10 |
78,018,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7394:Pwp2
|
UTSW |
10 |
78,018,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7728:Pwp2
|
UTSW |
10 |
78,014,395 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7838:Pwp2
|
UTSW |
10 |
78,018,778 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7898:Pwp2
|
UTSW |
10 |
78,009,240 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8072:Pwp2
|
UTSW |
10 |
78,007,930 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8447:Pwp2
|
UTSW |
10 |
78,007,873 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8750:Pwp2
|
UTSW |
10 |
78,013,659 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9302:Pwp2
|
UTSW |
10 |
78,009,540 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9367:Pwp2
|
UTSW |
10 |
78,014,827 (GRCm39) |
nonsense |
probably null |
|
|
Z1177:Pwp2
|
UTSW |
10 |
78,007,808 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTGGAACAAATGTGTGGG -3'
(R):5'- ATCCTTGGGTCCTTACAGTGC -3'
Sequencing Primer
(F):5'- GGACCCTCTCCCTTAAAGCAG -3'
(R):5'- CCCTGTCCCTCCCGACATG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation