Incidental Mutation 'R0033:Pwwp2b'
| ID |
15318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwwp2b
|
| Ensembl Gene |
ENSMUSG00000060260 |
| Gene Name |
PWWP domain containing 2B |
| Synonyms |
D7Ertd517e, D930023J19Rik, Pwwp2 |
| MMRRC Submission |
038327-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R0033 (G1)
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
138828398-138847172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 138834844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 95
(D95V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093993]
[ENSMUST00000172136]
|
| AlphaFold |
E9Q9M8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093993
AA Change: D95V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: D95V
| 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: D95V
PolyPhen 2
Score 0.873 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: D95V
| 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: 80.0%
- 3x: 71.7%
- 10x: 49.2%
- 20x: 29.7%
|
| Validation Efficiency |
96% (74/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agr3 |
C |
T |
12: 35,978,329 (GRCm39) |
T14M |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,140 (GRCm39) |
S212P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,898,397 (GRCm39) |
|
probably benign |
Het |
| Cdkn3 |
C |
A |
14: 47,006,329 (GRCm39) |
Y141* |
probably null |
Het |
| Ceacam12 |
T |
G |
7: 17,803,385 (GRCm39) |
|
probably benign |
Het |
| Celf1 |
T |
C |
2: 90,831,798 (GRCm39) |
|
probably benign |
Het |
| Col6a3 |
A |
G |
1: 90,729,967 (GRCm39) |
S1780P |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,663,886 (GRCm39) |
I346V |
possibly damaging |
Het |
| Csf3r |
A |
G |
4: 125,925,677 (GRCm39) |
T151A |
probably benign |
Het |
| Ctss |
G |
A |
3: 95,452,888 (GRCm39) |
|
probably benign |
Het |
| Erp44 |
T |
C |
4: 48,241,289 (GRCm39) |
|
probably benign |
Het |
| Hibch |
A |
G |
1: 52,944,610 (GRCm39) |
K296R |
probably null |
Het |
| Katnip |
T |
G |
7: 125,360,999 (GRCm39) |
V103G |
possibly damaging |
Het |
| Kirrel3 |
A |
G |
9: 34,912,259 (GRCm39) |
I208V |
probably benign |
Het |
| Lrrc8a |
G |
T |
2: 30,145,357 (GRCm39) |
C57F |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,583,504 (GRCm39) |
N435D |
possibly damaging |
Het |
| Myo16 |
A |
T |
8: 10,420,955 (GRCm39) |
Y265F |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,867,979 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
A |
C |
7: 3,289,037 (GRCm39) |
S492A |
probably damaging |
Het |
| Rarg |
T |
A |
15: 102,147,270 (GRCm39) |
I372F |
probably damaging |
Het |
| Snrnp200 |
T |
C |
2: 127,079,983 (GRCm39) |
I1920T |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,767,489 (GRCm39) |
F636L |
probably benign |
Het |
| Thra |
G |
A |
11: 98,655,178 (GRCm39) |
V353I |
probably benign |
Het |
| Tm7sf2 |
A |
G |
19: 6,116,452 (GRCm39) |
|
probably benign |
Het |
| Tmx4 |
A |
T |
2: 134,442,918 (GRCm39) |
|
probably null |
Het |
| Tnfrsf12a |
A |
G |
17: 23,895,119 (GRCm39) |
|
probably null |
Het |
| Uba5 |
T |
A |
9: 103,931,347 (GRCm39) |
T241S |
probably benign |
Het |
| Zfp420 |
A |
G |
7: 29,573,987 (GRCm39) |
D69G |
probably benign |
Het |
| Zfp64 |
A |
T |
2: 168,767,635 (GRCm39) |
I659N |
possibly damaging |
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 |
|
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 |
|
R3933:Pwwp2b
|
UTSW |
7 |
138,835,950 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
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 |
|
|
| Posted On |
2012-12-17 |
Incidental Mutation