Incidental Mutation 'R8319:Pwwp2b'
| ID |
641859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwwp2b
|
| Ensembl Gene |
ENSMUSG00000060260 |
| Gene Name |
PWWP domain containing 2B |
| Synonyms |
D7Ertd517e, D930023J19Rik, Pwwp2 |
| MMRRC Submission |
067856-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R8319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
138828398-138847172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138835099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 180
(V180A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093993]
[ENSMUST00000172136]
|
| AlphaFold |
E9Q9M8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093993
AA Change: V180A
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: V180A
| 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 |
probably damaging
Transcript: ENSMUST00000172136
AA Change: V180A
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: V180A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921517D22Rik |
A |
T |
13: 59,838,486 (GRCm39) |
D115E |
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,214,315 (GRCm39) |
L197Q |
probably damaging |
Het |
| Adamts14 |
T |
G |
10: 61,057,706 (GRCm39) |
N547T |
probably benign |
Het |
| Ampd3 |
T |
A |
7: 110,394,982 (GRCm39) |
S301R |
probably benign |
Het |
| Atg9a |
G |
A |
1: 75,162,342 (GRCm39) |
Q523* |
probably null |
Het |
| Atl1 |
A |
T |
12: 70,002,093 (GRCm39) |
T351S |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Cacna1c |
T |
C |
6: 118,614,735 (GRCm39) |
I1315V |
|
Het |
| Col12a1 |
C |
T |
9: 79,555,979 (GRCm39) |
G2013R |
probably damaging |
Het |
| Cpne2 |
A |
G |
8: 95,280,040 (GRCm39) |
D153G |
probably benign |
Het |
| Cryzl1 |
T |
C |
16: 91,489,251 (GRCm39) |
S205G |
probably benign |
Het |
| Cux1 |
C |
T |
5: 136,594,251 (GRCm39) |
A5T |
probably benign |
Het |
| Ddx60 |
T |
C |
8: 62,395,669 (GRCm39) |
|
probably null |
Het |
| Dnajc13 |
G |
A |
9: 104,067,590 (GRCm39) |
P1190S |
probably benign |
Het |
| Fbxw7 |
T |
A |
3: 84,881,859 (GRCm39) |
V526E |
|
Het |
| Fig4 |
C |
A |
10: 41,139,097 (GRCm39) |
G369C |
probably damaging |
Het |
| Gabra1 |
C |
T |
11: 42,026,315 (GRCm39) |
A326T |
probably damaging |
Het |
| Gbe1 |
G |
A |
16: 70,284,964 (GRCm39) |
G429S |
probably benign |
Het |
| Gtf3c5 |
A |
T |
2: 28,460,506 (GRCm39) |
H364Q |
probably benign |
Het |
| Hcfc2 |
T |
A |
10: 82,574,201 (GRCm39) |
I125N |
probably damaging |
Het |
| Hnrnpul1 |
A |
T |
7: 25,453,902 (GRCm39) |
D53E |
probably benign |
Het |
| Ift56 |
T |
A |
6: 38,382,880 (GRCm39) |
H338Q |
probably damaging |
Het |
| Il18 |
A |
T |
9: 50,492,818 (GRCm39) |
D128V |
possibly damaging |
Het |
| Intu |
T |
A |
3: 40,608,202 (GRCm39) |
S71R |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,775,940 (GRCm39) |
E206G |
possibly damaging |
Het |
| Lcor |
T |
A |
19: 41,571,343 (GRCm39) |
S179T |
probably damaging |
Het |
| Mcub |
A |
G |
3: 129,727,328 (GRCm39) |
F93L |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 67,267,803 (GRCm39) |
Y5C |
unknown |
Het |
| Naip1 |
C |
A |
13: 100,565,721 (GRCm39) |
V354L |
probably benign |
Het |
| Naip5 |
A |
G |
13: 100,358,167 (GRCm39) |
V1023A |
probably benign |
Het |
| Ndufaf1 |
A |
G |
2: 119,490,568 (GRCm39) |
L166P |
probably damaging |
Het |
| Ninl |
A |
T |
2: 150,801,827 (GRCm39) |
L147H |
probably damaging |
Het |
| Or4c12 |
A |
G |
2: 89,774,024 (GRCm39) |
V145A |
possibly damaging |
Het |
| Or51b17 |
A |
G |
7: 103,542,636 (GRCm39) |
I102T |
probably damaging |
Het |
| Otogl |
C |
T |
10: 107,689,127 (GRCm39) |
|
probably null |
Het |
| Otulin |
AT |
ATT |
15: 27,606,404 (GRCm39) |
|
probably null |
Het |
| Phf11b |
A |
C |
14: 59,576,146 (GRCm39) |
L30R |
probably damaging |
Het |
| Prdm13 |
G |
T |
4: 21,679,327 (GRCm39) |
H388N |
unknown |
Het |
| Reep4 |
T |
A |
14: 70,783,951 (GRCm39) |
S23T |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,425,378 (GRCm39) |
L1161Q |
probably damaging |
Het |
| Scgb1b3 |
G |
A |
7: 31,075,404 (GRCm39) |
|
probably null |
Het |
| Scn10a |
G |
T |
9: 119,499,455 (GRCm39) |
N279K |
probably benign |
Het |
| Smurf2 |
A |
G |
11: 106,715,578 (GRCm39) |
L643S |
probably damaging |
Het |
| Sox12 |
G |
A |
2: 152,239,192 (GRCm39) |
P143S |
unknown |
Het |
| Specc1 |
C |
T |
11: 62,009,501 (GRCm39) |
T339I |
possibly damaging |
Het |
| Tas2r139 |
T |
C |
6: 42,118,720 (GRCm39) |
V284A |
probably benign |
Het |
| Thumpd3 |
T |
A |
6: 113,040,107 (GRCm39) |
C330* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,537,298 (GRCm39) |
S34877P |
possibly damaging |
Het |
| Zfp568 |
T |
C |
7: 29,697,629 (GRCm39) |
S104P |
possibly damaging |
Het |
| Zfp933 |
G |
A |
4: 147,912,910 (GRCm39) |
H50Y |
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 |
|
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 |
|
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'- CCACCATACTTTGAGGGTGC -3'
(R):5'- ATGACTGGGCTTCTCGGAAC -3'
Sequencing Primer
(F):5'- GGTGCCCCCTTCCCTCAC -3'
(R):5'- TCTCGGAACACGCTCTCCAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation