Incidental Mutation 'R3023:Pwwp2b'
| ID |
265756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pwwp2b
|
| Ensembl Gene |
ENSMUSG00000060260 |
| Gene Name |
PWWP domain containing 2B |
| Synonyms |
D7Ertd517e, D930023J19Rik, Pwwp2 |
| MMRRC Submission |
040539-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R3023 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
138828398-138847172 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 138836110 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 517
(R517H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130888
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093993]
[ENSMUST00000172136]
|
| AlphaFold |
E9Q9M8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093993
|
| SMART Domains |
Protein: ENSMUSP00000091529
Gene: ENSMUSG00000060260
| 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: R517H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130888
Gene: ENSMUSG00000060260
AA Change: R517H
| 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: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
T |
6: 121,646,531 (GRCm39) |
E1060D |
probably benign |
Het |
| Abca15 |
A |
T |
7: 119,982,002 (GRCm39) |
I1106F |
probably benign |
Het |
| Arl5a |
A |
G |
2: 52,306,209 (GRCm39) |
V41A |
probably benign |
Het |
| Atp8b5 |
A |
G |
4: 43,311,957 (GRCm39) |
D190G |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,842,593 (GRCm39) |
|
probably null |
Het |
| Ckap2 |
T |
C |
8: 22,665,877 (GRCm39) |
N390S |
possibly damaging |
Het |
| Dtx3l |
A |
G |
16: 35,752,806 (GRCm39) |
I600T |
probably benign |
Het |
| Epb41l1 |
A |
C |
2: 156,356,129 (GRCm39) |
E555A |
probably damaging |
Het |
| Fxr1 |
G |
A |
3: 34,118,373 (GRCm39) |
R503H |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,833,147 (GRCm39) |
N436D |
probably benign |
Het |
| Kif26b |
G |
A |
1: 178,692,433 (GRCm39) |
C11Y |
probably damaging |
Het |
| Or4a78 |
A |
G |
2: 89,497,990 (GRCm39) |
I80T |
possibly damaging |
Het |
| Osbpl6 |
A |
T |
2: 76,417,077 (GRCm39) |
I703F |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,587,351 (GRCm39) |
Y37C |
probably damaging |
Het |
| Plekhm3 |
CCTGCTGCTGCTGCTGCTGCTGCTGC |
CCTGCTGCTGCTGCTGCTGCTGC |
1: 64,976,940 (GRCm39) |
|
probably benign |
Het |
| Rp1 |
G |
A |
1: 4,422,898 (GRCm39) |
R61W |
probably damaging |
Het |
| Sdk1 |
C |
G |
5: 142,031,991 (GRCm39) |
T1022S |
probably benign |
Het |
| Slc12a7 |
T |
A |
13: 73,948,541 (GRCm39) |
S669T |
probably benign |
Het |
| Sstr3 |
G |
A |
15: 78,424,187 (GRCm39) |
R187W |
probably damaging |
Het |
| Tlr2 |
C |
T |
3: 83,745,178 (GRCm39) |
V302I |
probably benign |
Het |
| Trav7-6 |
A |
G |
14: 53,954,701 (GRCm39) |
K77R |
probably benign |
Het |
| Vmn2r18 |
T |
C |
5: 151,485,148 (GRCm39) |
N782S |
probably benign |
Het |
| Vmn2r78 |
G |
T |
7: 86,604,174 (GRCm39) |
S784I |
probably 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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTGACATCTCCAGACACAGG -3'
(R):5'- CAGCCTCAGTTATAGCTTTCCG -3'
Sequencing Primer
(F):5'- CAGGAGACCTGTCATCTGGTG -3'
(R):5'- AGTTATAGCTTTCCGATACATCCC -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation