Incidental Mutation 'R2251:Pwp2'
ID |
241687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pwp2
|
Ensembl Gene |
ENSMUSG00000032834 |
Gene Name |
PWP2 periodic tryptophan protein homolog (yeast) |
Synonyms |
Pwp2, Pwp2h, 6530411D08Rik |
MMRRC Submission |
040251-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.780)
|
Stock # |
R2251 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
78006743-78020983 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 78016922 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Leucine
at position 266
(Q266L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000045812
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042556]
|
AlphaFold |
Q8BU03 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000042556
AA Change: Q266L
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000045812 Gene: ENSMUSG00000032834 AA Change: Q266L
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 |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
G |
A |
14: 59,380,061 (GRCm39) |
S79F |
probably damaging |
Het |
Abl1 |
T |
A |
2: 31,669,131 (GRCm39) |
V170E |
probably damaging |
Het |
Akap13 |
C |
T |
7: 75,389,225 (GRCm39) |
T2381M |
possibly damaging |
Het |
Armc8 |
T |
A |
9: 99,384,653 (GRCm39) |
|
probably null |
Het |
B3gnt3 |
A |
T |
8: 72,145,462 (GRCm39) |
M302K |
probably damaging |
Het |
Casp3 |
G |
T |
8: 47,090,990 (GRCm39) |
W214L |
probably damaging |
Het |
Cnot1 |
A |
G |
8: 96,489,814 (GRCm39) |
V463A |
probably benign |
Het |
Cntn2 |
T |
C |
1: 132,453,059 (GRCm39) |
E411G |
probably damaging |
Het |
Dgkg |
A |
T |
16: 22,441,010 (GRCm39) |
M1K |
probably null |
Het |
Faap20 |
A |
C |
4: 155,335,010 (GRCm39) |
E37A |
possibly damaging |
Het |
Fam186a |
T |
C |
15: 99,842,978 (GRCm39) |
T1089A |
probably benign |
Het |
Fgb |
T |
G |
3: 82,950,591 (GRCm39) |
T388P |
probably damaging |
Het |
Fndc1 |
G |
A |
17: 7,972,439 (GRCm39) |
R1498W |
probably damaging |
Het |
Gch1 |
T |
C |
14: 47,426,798 (GRCm39) |
|
probably benign |
Het |
Gzf1 |
T |
C |
2: 148,525,856 (GRCm39) |
M109T |
probably damaging |
Het |
H2-M10.1 |
A |
C |
17: 36,636,498 (GRCm39) |
L102R |
probably damaging |
Het |
Kpna1 |
T |
C |
16: 35,841,939 (GRCm39) |
Y280H |
possibly damaging |
Het |
Mbtps2 |
A |
T |
X: 156,342,029 (GRCm39) |
F270L |
probably benign |
Het |
Mrpl40 |
T |
C |
16: 18,694,125 (GRCm39) |
H29R |
probably benign |
Het |
N4bp2 |
G |
A |
5: 65,964,071 (GRCm39) |
V707I |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,103,025 (GRCm39) |
K608E |
probably damaging |
Het |
Nfix |
T |
C |
8: 85,442,799 (GRCm39) |
D458G |
probably benign |
Het |
Ngdn |
T |
C |
14: 55,260,852 (GRCm39) |
|
probably null |
Het |
Nr3c1 |
G |
T |
18: 39,619,804 (GRCm39) |
T161K |
probably benign |
Het |
Or2n1e |
C |
T |
17: 38,585,794 (GRCm39) |
A44V |
probably benign |
Het |
Or4g16 |
A |
G |
2: 111,136,655 (GRCm39) |
Y35C |
probably damaging |
Het |
Or52e15 |
A |
T |
7: 104,645,802 (GRCm39) |
M103K |
probably damaging |
Het |
Or5ak20 |
A |
G |
2: 85,184,202 (GRCm39) |
S23P |
possibly damaging |
Het |
Pbld2 |
G |
T |
10: 62,860,384 (GRCm39) |
|
probably benign |
Het |
Pkd1l2 |
T |
C |
8: 117,784,177 (GRCm39) |
Y700C |
probably damaging |
Het |
Plcb2 |
T |
C |
2: 118,554,246 (GRCm39) |
N69S |
probably benign |
Het |
Rnf133 |
T |
C |
6: 23,649,174 (GRCm39) |
M252V |
probably benign |
Het |
Scn8a |
A |
G |
15: 100,914,987 (GRCm39) |
I1184V |
probably benign |
Het |
Slc7a2 |
T |
C |
8: 41,358,658 (GRCm39) |
Y334H |
probably benign |
Het |
Smim11 |
T |
C |
16: 92,107,716 (GRCm39) |
Y14H |
probably benign |
Het |
Spata17 |
A |
T |
1: 186,780,670 (GRCm39) |
L359Q |
possibly damaging |
Het |
Spn |
T |
C |
7: 126,736,331 (GRCm39) |
K59E |
probably benign |
Het |
Tap2 |
A |
G |
17: 34,430,928 (GRCm39) |
S343G |
probably damaging |
Het |
Tcp11l2 |
T |
C |
10: 84,440,933 (GRCm39) |
|
probably null |
Het |
Tlr11 |
T |
A |
14: 50,598,249 (GRCm39) |
N78K |
probably benign |
Het |
Tm9sf2 |
T |
A |
14: 122,377,143 (GRCm39) |
S224T |
probably benign |
Het |
Trpm1 |
G |
A |
7: 63,859,724 (GRCm39) |
G261D |
probably damaging |
Het |
Tut4 |
T |
A |
4: 108,377,405 (GRCm39) |
D938E |
probably damaging |
Het |
Usp3 |
T |
C |
9: 66,469,860 (GRCm39) |
D87G |
probably damaging |
Het |
Vmn1r189 |
T |
C |
13: 22,286,718 (GRCm39) |
K40E |
probably damaging |
Het |
Vps45 |
A |
T |
3: 95,964,352 (GRCm39) |
D56E |
probably benign |
Het |
Vstm2a |
C |
A |
11: 16,318,273 (GRCm39) |
Q231K |
probably benign |
Het |
Zfp575 |
A |
T |
7: 24,285,015 (GRCm39) |
C209S |
probably damaging |
Het |
Zfp768 |
T |
C |
7: 126,943,550 (GRCm39) |
T193A |
probably benign |
Het |
Zfp867 |
T |
A |
11: 59,356,319 (GRCm39) |
R38* |
probably null |
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 |
|
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 |
R5355:Pwp2
|
UTSW |
10 |
78,011,378 (GRCm39) |
missense |
possibly damaging |
0.94 |
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'- GAGTTGACCGAGGGCAATGTTC -3'
(R):5'- TCAAGATGGAGCCCTGTGTG -3'
Sequencing Primer
(F):5'- GAGGGCAATGTTCCTTTGACCAC -3'
(R):5'- AGCCCTGTGTGTGTGGCAG -3'
|
Posted On |
2014-10-16 |