Incidental Mutation 'R8249:Pwwp2b'
| ID |
640332 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwwp2b
|
| Ensembl Gene |
ENSMUSG00000060260 |
| Gene Name |
PWWP domain containing 2B |
| Synonyms |
D7Ertd517e, D930023J19Rik, Pwwp2 |
| MMRRC Submission |
067649-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.088)
|
| Stock # |
R8249 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
138828398-138847172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 138834759 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Cysteine
at position 67
(G67C)
|
| 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: G67C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
AA Change: G67C
| 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: G67C
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: G67C
| 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: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,360,971 (GRCm39) |
S441P |
probably benign |
Het |
| Adck2 |
C |
T |
6: 39,562,667 (GRCm39) |
R513* |
probably null |
Het |
| Agbl2 |
G |
A |
2: 90,627,908 (GRCm39) |
G238R |
probably damaging |
Het |
| Arhgap12 |
A |
T |
18: 6,027,635 (GRCm39) |
I736N |
probably damaging |
Het |
| AW554918 |
C |
T |
18: 25,472,775 (GRCm39) |
T193I |
probably benign |
Het |
| Bscl2 |
T |
C |
19: 8,823,884 (GRCm39) |
Y270H |
probably damaging |
Het |
| Btd |
T |
C |
14: 31,387,905 (GRCm39) |
Y112H |
probably damaging |
Het |
| Camk2d |
C |
T |
3: 126,591,378 (GRCm39) |
H283Y |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,762,737 (GRCm39) |
Y259C |
probably benign |
Het |
| Dnm3 |
A |
T |
1: 162,305,312 (GRCm39) |
C27* |
probably null |
Het |
| Fbxo48 |
T |
A |
11: 16,903,433 (GRCm39) |
S20T |
possibly damaging |
Het |
| Fkbp6 |
A |
G |
5: 135,378,806 (GRCm39) |
S14P |
possibly damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,933,932 (GRCm39) |
F730L |
probably benign |
Het |
| Gm136 |
C |
A |
4: 34,750,955 (GRCm39) |
R106L |
probably benign |
Het |
| Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,144,663 (GRCm39) |
R621Q |
probably damaging |
Het |
| H2-M11 |
T |
A |
17: 36,859,900 (GRCm39) |
W298R |
probably damaging |
Het |
| Hars2 |
A |
T |
18: 36,921,054 (GRCm39) |
I209F |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,695,117 (GRCm39) |
N262K |
probably benign |
Het |
| Hycc2 |
G |
A |
1: 58,573,796 (GRCm39) |
S336L |
probably benign |
Het |
| Ifit1 |
T |
A |
19: 34,618,389 (GRCm39) |
|
probably null |
Het |
| Ighv1-85 |
T |
C |
12: 115,963,844 (GRCm39) |
D52G |
probably benign |
Het |
| Kit |
T |
C |
5: 75,802,068 (GRCm39) |
V657A |
probably damaging |
Het |
| Krt32 |
T |
C |
11: 99,977,548 (GRCm39) |
I173V |
probably benign |
Het |
| Lrfn3 |
GC |
GCCAGGGGAGGTGAGCGGTGGGTCACCTCCC |
7: 30,059,298 (GRCm39) |
|
probably null |
Het |
| Lrp1 |
C |
A |
10: 127,441,412 (GRCm39) |
S237I |
probably benign |
Het |
| Map3k9 |
T |
C |
12: 81,827,551 (GRCm39) |
D33G |
unknown |
Het |
| Mroh7 |
T |
C |
4: 106,578,409 (GRCm39) |
T90A |
probably benign |
Het |
| Mterf1a |
A |
C |
5: 3,941,550 (GRCm39) |
I106S |
probably damaging |
Het |
| Mtrf1 |
C |
A |
14: 79,638,919 (GRCm39) |
A17E |
probably benign |
Het |
| Musk |
T |
G |
4: 58,368,926 (GRCm39) |
L635R |
probably damaging |
Het |
| Naxe |
A |
T |
3: 87,965,695 (GRCm39) |
W35R |
possibly damaging |
Het |
| Nlrp9c |
T |
A |
7: 26,074,778 (GRCm39) |
K806* |
probably null |
Het |
| Pi4k2a |
A |
G |
19: 42,103,501 (GRCm39) |
E337G |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Scn10a |
T |
A |
9: 119,446,840 (GRCm39) |
Y1396F |
probably damaging |
Het |
| Sdk1 |
A |
T |
5: 142,173,770 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
C |
T |
12: 103,660,027 (GRCm39) |
G85E |
probably damaging |
Het |
| Tceanc2 |
G |
A |
4: 107,036,190 (GRCm39) |
|
probably benign |
Het |
| Tmem156 |
T |
A |
5: 65,232,969 (GRCm39) |
R186* |
probably null |
Het |
| Trbv16 |
A |
G |
6: 41,128,932 (GRCm39) |
T39A |
possibly damaging |
Het |
| Tti1 |
C |
G |
2: 157,842,635 (GRCm39) |
S798T |
probably benign |
Het |
| Unc80 |
A |
T |
1: 66,658,650 (GRCm39) |
M1656L |
probably benign |
Het |
| Wnt2 |
C |
A |
6: 18,030,284 (GRCm39) |
M1I |
probably null |
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 |
|
|
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'- TGGACCTAGATCCAGATGGC -3'
(R):5'- GCACCCTCAAAGTATGGTGG -3'
Sequencing Primer
(F):5'- AAATCTGGTGACCTATGGCTCAG -3'
(R):5'- CACCCTCAAAGTATGGTGGAAAGG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation