Incidental Mutation 'R3933:Pwwp2b'
ID |
308558 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Pwwp2b
|
Ensembl Gene |
ENSMUSG00000060260 |
Gene Name |
PWWP domain containing 2B |
Synonyms |
D7Ertd517e, D930023J19Rik, Pwwp2 |
MMRRC Submission |
040920-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.088)
|
Stock # |
R3933 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
138828398-138847172 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 138835950 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 464
(V464I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130888
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093993]
[ENSMUST00000172136]
|
AlphaFold |
E9Q9M8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093993
AA Change: V464I
PolyPhen 2
Score 0.469 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000091529 Gene: ENSMUSG00000060260 AA Change: V464I
Domain | Start | End | E-Value | Type |
low complexity region
|
105 |
120 |
N/A |
INTRINSIC |
low complexity region
|
145 |
165 |
N/A |
INTRINSIC |
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
low complexity region
|
305 |
319 |
N/A |
INTRINSIC |
low complexity region
|
381 |
401 |
N/A |
INTRINSIC |
low complexity region
|
457 |
468 |
N/A |
INTRINSIC |
PDB:4LD6|A
|
485 |
506 |
4e-6 |
PDB |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000172136
AA Change: V464I
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000130888 Gene: ENSMUSG00000060260 AA Change: V464I
Domain | Start | End | E-Value | Type |
low complexity region
|
105 |
120 |
N/A |
INTRINSIC |
low complexity region
|
145 |
165 |
N/A |
INTRINSIC |
low complexity region
|
234 |
245 |
N/A |
INTRINSIC |
low complexity region
|
305 |
319 |
N/A |
INTRINSIC |
low complexity region
|
381 |
401 |
N/A |
INTRINSIC |
low complexity region
|
457 |
468 |
N/A |
INTRINSIC |
Pfam:PWWP
|
498 |
583 |
5.5e-19 |
PFAM |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.1%
|
Validation Efficiency |
96% (43/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,304,856 (GRCm39) |
F3350L |
probably damaging |
Het |
Acp6 |
T |
C |
3: 97,073,499 (GRCm39) |
V146A |
probably benign |
Het |
Ap3b2 |
C |
T |
7: 81,123,598 (GRCm39) |
|
probably benign |
Het |
Arhgef33 |
A |
G |
17: 80,680,749 (GRCm39) |
I630V |
probably benign |
Het |
Astn2 |
G |
A |
4: 66,322,192 (GRCm39) |
R136C |
unknown |
Het |
Bcl2l14 |
A |
G |
6: 134,400,771 (GRCm39) |
D64G |
probably damaging |
Het |
C1rl |
T |
A |
6: 124,485,781 (GRCm39) |
L384* |
probably null |
Het |
Ccdc6 |
TCCGCCGCCGCC |
TCCGCCGCC |
10: 70,025,000 (GRCm39) |
|
probably benign |
Het |
Coch |
T |
C |
12: 51,650,121 (GRCm39) |
I370T |
probably damaging |
Het |
Ercc5 |
T |
A |
1: 44,207,016 (GRCm39) |
M643K |
probably benign |
Het |
Fut8 |
A |
C |
12: 77,522,033 (GRCm39) |
K557N |
probably damaging |
Het |
Hsdl2 |
T |
C |
4: 59,597,274 (GRCm39) |
Y88H |
probably damaging |
Het |
Hspg2 |
T |
C |
4: 137,242,879 (GRCm39) |
V670A |
probably damaging |
Het |
Itga8 |
A |
G |
2: 12,194,330 (GRCm39) |
I690T |
probably benign |
Het |
Lepr |
T |
C |
4: 101,622,498 (GRCm39) |
|
probably benign |
Het |
Matn2 |
T |
C |
15: 34,345,566 (GRCm39) |
|
probably null |
Het |
Mei1 |
A |
G |
15: 81,967,353 (GRCm39) |
K310E |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Msl3 |
C |
T |
X: 167,454,813 (GRCm39) |
A87T |
probably damaging |
Het |
Nalf2 |
G |
A |
X: 98,865,470 (GRCm39) |
V266M |
possibly damaging |
Het |
Ogdh |
T |
C |
11: 6,292,601 (GRCm39) |
V438A |
possibly damaging |
Het |
Opa1 |
A |
T |
16: 29,429,698 (GRCm39) |
E401D |
probably damaging |
Het |
Or4f17-ps1 |
T |
C |
2: 111,358,300 (GRCm39) |
Y232H |
probably damaging |
Het |
Or5aq6 |
T |
A |
2: 86,923,106 (GRCm39) |
I212F |
probably benign |
Het |
Parp2 |
G |
A |
14: 51,056,844 (GRCm39) |
V323M |
probably benign |
Het |
Pip5k1a |
A |
G |
3: 94,979,314 (GRCm39) |
S161P |
probably benign |
Het |
Pold3 |
T |
C |
7: 99,770,608 (GRCm39) |
E8G |
probably damaging |
Het |
Pomt1 |
G |
A |
2: 32,135,631 (GRCm39) |
V332I |
probably benign |
Het |
Ppp2ca |
T |
A |
11: 52,010,089 (GRCm39) |
N232K |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,101,318 (GRCm39) |
D2274V |
probably damaging |
Het |
Rgs7bp |
T |
C |
13: 105,189,506 (GRCm39) |
M98V |
probably benign |
Het |
Rubcn |
A |
G |
16: 32,649,629 (GRCm39) |
|
probably null |
Het |
Scai |
A |
T |
2: 38,965,064 (GRCm39) |
D593E |
probably benign |
Het |
Slc24a2 |
T |
C |
4: 87,094,422 (GRCm39) |
T366A |
probably benign |
Het |
Sp100 |
A |
G |
1: 85,608,830 (GRCm39) |
I320V |
probably benign |
Het |
Syngr2 |
C |
A |
11: 117,704,243 (GRCm39) |
P206Q |
probably damaging |
Het |
Tatdn3 |
A |
T |
1: 190,778,521 (GRCm39) |
|
probably null |
Het |
Thsd7a |
C |
T |
6: 12,555,225 (GRCm39) |
G220S |
probably benign |
Het |
Vmn2r10 |
C |
A |
5: 109,150,088 (GRCm39) |
A319S |
possibly damaging |
Het |
Vmn2r11 |
C |
T |
5: 109,201,260 (GRCm39) |
A415T |
probably damaging |
Het |
Vmn2r88 |
A |
G |
14: 51,651,435 (GRCm39) |
M258V |
probably benign |
Het |
Wiz |
G |
A |
17: 32,576,872 (GRCm39) |
R561C |
probably damaging |
Het |
Yju2b |
G |
A |
8: 84,986,981 (GRCm39) |
A172V |
probably benign |
Het |
Zfp422 |
T |
C |
6: 116,603,420 (GRCm39) |
K193R |
probably benign |
Het |
|
Other mutations in Pwwp2b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01020:Pwwp2b
|
APN |
7 |
138,834,771 (GRCm39) |
nonsense |
probably null |
|
IGL02209:Pwwp2b
|
APN |
7 |
138,835,021 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02938:Pwwp2b
|
APN |
7 |
138,836,059 (GRCm39) |
missense |
probably damaging |
1.00 |
Conservative
|
UTSW |
7 |
138,835,502 (GRCm39) |
missense |
probably benign |
0.09 |
Edgy
|
UTSW |
7 |
138,835,978 (GRCm39) |
missense |
possibly damaging |
0.90 |
R0033:Pwwp2b
|
UTSW |
7 |
138,834,844 (GRCm39) |
missense |
possibly damaging |
0.87 |
R0033:Pwwp2b
|
UTSW |
7 |
138,834,844 (GRCm39) |
missense |
possibly damaging |
0.87 |
R1491:Pwwp2b
|
UTSW |
7 |
138,835,879 (GRCm39) |
missense |
probably damaging |
1.00 |
R1636:Pwwp2b
|
UTSW |
7 |
138,834,758 (GRCm39) |
missense |
probably benign |
0.00 |
R1672:Pwwp2b
|
UTSW |
7 |
138,834,747 (GRCm39) |
missense |
probably benign |
|
R1793:Pwwp2b
|
UTSW |
7 |
138,836,281 (GRCm39) |
missense |
probably damaging |
0.97 |
R2016:Pwwp2b
|
UTSW |
7 |
138,836,067 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2159:Pwwp2b
|
UTSW |
7 |
138,834,844 (GRCm39) |
missense |
possibly damaging |
0.87 |
R2228:Pwwp2b
|
UTSW |
7 |
138,835,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R2229:Pwwp2b
|
UTSW |
7 |
138,835,104 (GRCm39) |
missense |
probably damaging |
1.00 |
R2380:Pwwp2b
|
UTSW |
7 |
138,835,366 (GRCm39) |
missense |
probably damaging |
1.00 |
R3023:Pwwp2b
|
UTSW |
7 |
138,836,110 (GRCm39) |
missense |
probably damaging |
1.00 |
R4440:Pwwp2b
|
UTSW |
7 |
138,835,555 (GRCm39) |
missense |
probably benign |
0.09 |
R4844:Pwwp2b
|
UTSW |
7 |
138,835,502 (GRCm39) |
missense |
probably benign |
0.09 |
R4873:Pwwp2b
|
UTSW |
7 |
138,835,978 (GRCm39) |
missense |
possibly damaging |
0.90 |
R4875:Pwwp2b
|
UTSW |
7 |
138,835,978 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5022:Pwwp2b
|
UTSW |
7 |
138,835,494 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5446:Pwwp2b
|
UTSW |
7 |
138,835,066 (GRCm39) |
missense |
probably damaging |
0.96 |
R5656:Pwwp2b
|
UTSW |
7 |
138,835,887 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6465:Pwwp2b
|
UTSW |
7 |
138,835,951 (GRCm39) |
missense |
probably benign |
0.01 |
R6578:Pwwp2b
|
UTSW |
7 |
138,836,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R6774:Pwwp2b
|
UTSW |
7 |
138,835,903 (GRCm39) |
missense |
probably benign |
0.13 |
R7218:Pwwp2b
|
UTSW |
7 |
138,836,049 (GRCm39) |
missense |
probably damaging |
1.00 |
R7316:Pwwp2b
|
UTSW |
7 |
138,836,140 (GRCm39) |
missense |
probably benign |
0.29 |
R7818:Pwwp2b
|
UTSW |
7 |
138,835,240 (GRCm39) |
missense |
probably benign |
|
R8249:Pwwp2b
|
UTSW |
7 |
138,834,759 (GRCm39) |
missense |
probably damaging |
0.99 |
R8319:Pwwp2b
|
UTSW |
7 |
138,835,099 (GRCm39) |
missense |
probably damaging |
0.99 |
R8671:Pwwp2b
|
UTSW |
7 |
138,836,326 (GRCm39) |
missense |
probably damaging |
1.00 |
R8785:Pwwp2b
|
UTSW |
7 |
138,836,086 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9331:Pwwp2b
|
UTSW |
7 |
138,835,357 (GRCm39) |
missense |
probably damaging |
1.00 |
X0017:Pwwp2b
|
UTSW |
7 |
138,835,722 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAAGGTAAACATGGCCGTGATG -3'
(R):5'- AGACTTTCGCTTCTTGCCAAG -3'
Sequencing Primer
(F):5'- CCGTGATGGCTTGGCTTTTC -3'
(R):5'- TCTGGCCAAGGCTGATGTCAAG -3'
|
Posted On |
2015-04-17 |