Incidental Mutation 'R7043:Wwp2'
| ID |
547160 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwp2
|
| Ensembl Gene |
ENSMUSG00000031930 |
| Gene Name |
WW domain containing E3 ubiquitin protein ligase 2 |
| Synonyms |
AIP2, 1300010O06Rik |
| MMRRC Submission |
045142-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.312)
|
| Stock # |
R7043 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
108162997-108285227 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 108184532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 80
(H80R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000166615]
[ENSMUST00000212205]
[ENSMUST00000213097]
|
| AlphaFold |
Q9DBH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166615
AA Change: H80R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: H80R
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
19 |
115 |
1.52e-6 |
SMART |
|
low complexity region
|
188 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
249 |
N/A |
INTRINSIC |
|
WW
|
301 |
330 |
4.61e-8 |
SMART |
|
WW
|
331 |
363 |
4.33e-13 |
SMART |
|
WW
|
406 |
437 |
2.86e-13 |
SMART |
|
WW
|
445 |
477 |
3.6e-10 |
SMART |
|
HECTc
|
534 |
870 |
3.24e-201 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212205
AA Change: H80R
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000213097
AA Change: H80R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased body size, domed skull, short snout, twisted snout and overgrown mandibular incisors. Mice homozygous for a different knock-out allele exhibit increased sensitivity to pIpC-treatment. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,484,474 (GRCm39) |
L1596P |
probably damaging |
Het |
| Actr3b |
A |
G |
5: 26,054,936 (GRCm39) |
M329V |
probably benign |
Het |
| Avpr1a |
C |
T |
10: 122,285,586 (GRCm39) |
R293C |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,215,215 (GRCm39) |
C390S |
probably benign |
Het |
| C2cd2l |
A |
T |
9: 44,227,848 (GRCm39) |
M131K |
probably damaging |
Het |
| Ccna2 |
T |
C |
3: 36,624,302 (GRCm39) |
|
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,670,577 (GRCm39) |
D152G |
probably damaging |
Het |
| Cdpf1 |
A |
T |
15: 85,692,485 (GRCm39) |
V66E |
probably null |
Het |
| Chd9 |
G |
T |
8: 91,760,843 (GRCm39) |
|
probably benign |
Het |
| Crybg2 |
A |
G |
4: 133,818,447 (GRCm39) |
D1710G |
probably benign |
Het |
| Dst |
A |
G |
1: 34,296,992 (GRCm39) |
T5794A |
probably damaging |
Het |
| Eif2s1 |
G |
T |
12: 78,923,882 (GRCm39) |
R113L |
probably damaging |
Het |
| Eif5 |
A |
G |
12: 111,511,030 (GRCm39) |
D423G |
probably benign |
Het |
| Eri1 |
A |
C |
8: 35,945,792 (GRCm39) |
D164E |
probably damaging |
Het |
| F7 |
A |
T |
8: 13,083,997 (GRCm39) |
R227S |
probably benign |
Het |
| Gm14496 |
T |
G |
2: 181,642,120 (GRCm39) |
I597S |
possibly damaging |
Het |
| Gpr85 |
T |
A |
6: 13,835,876 (GRCm39) |
N343Y |
probably damaging |
Het |
| H2-T23 |
A |
T |
17: 36,342,803 (GRCm39) |
S112T |
probably damaging |
Het |
| Itga9 |
C |
T |
9: 118,598,184 (GRCm39) |
P573S |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,383,150 (GRCm39) |
M159L |
probably benign |
Het |
| Kmt5b |
T |
A |
19: 3,865,220 (GRCm39) |
S738R |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 40,812,426 (GRCm39) |
N2393S |
possibly damaging |
Het |
| Mme |
T |
A |
3: 63,252,638 (GRCm39) |
Y427* |
probably null |
Het |
| Naip1 |
A |
G |
13: 100,563,422 (GRCm39) |
V581A |
probably damaging |
Het |
| Ndel1 |
A |
G |
11: 68,713,450 (GRCm39) |
L329P |
possibly damaging |
Het |
| Nthl1 |
T |
G |
17: 24,857,644 (GRCm39) |
V281G |
probably benign |
Het |
| Or52ab2 |
C |
A |
7: 102,970,292 (GRCm39) |
|
probably benign |
Het |
| Per2 |
G |
T |
1: 91,347,130 (GRCm39) |
H1197Q |
probably benign |
Het |
| Phf8-ps |
T |
C |
17: 33,284,306 (GRCm39) |
D832G |
possibly damaging |
Het |
| Plec |
G |
A |
15: 76,093,328 (GRCm39) |
|
probably benign |
Het |
| Prpf6 |
A |
T |
2: 181,291,297 (GRCm39) |
H704L |
probably benign |
Het |
| Recql5 |
C |
T |
11: 115,821,502 (GRCm39) |
|
probably null |
Het |
| Rimbp3 |
G |
A |
16: 17,028,972 (GRCm39) |
V799M |
probably damaging |
Het |
| Sema3f |
C |
T |
9: 107,568,599 (GRCm39) |
A169T |
possibly damaging |
Het |
| Serpinb9f |
T |
C |
13: 33,509,970 (GRCm39) |
I54T |
possibly damaging |
Het |
| Skint5 |
A |
T |
4: 113,574,304 (GRCm39) |
L749Q |
unknown |
Het |
| Slc35g3 |
T |
C |
11: 69,652,476 (GRCm39) |
D12G |
probably benign |
Het |
| Sptbn1 |
A |
G |
11: 30,053,323 (GRCm39) |
V2252A |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,706,110 (GRCm39) |
N1750S |
probably damaging |
Het |
| Supt5 |
C |
A |
7: 28,019,435 (GRCm39) |
R543L |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,022,193 (GRCm39) |
E7806G |
possibly damaging |
Het |
| Syt12 |
T |
A |
19: 4,501,049 (GRCm39) |
M334L |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,706,779 (GRCm39) |
*234R |
probably null |
Het |
| Trp73 |
T |
G |
4: 154,151,464 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
G |
2: 76,727,477 (GRCm39) |
|
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,200,098 (GRCm39) |
I452V |
probably benign |
Het |
| Wwox |
G |
T |
8: 115,406,578 (GRCm39) |
V190L |
probably damaging |
Het |
| Zc3h3 |
A |
G |
15: 75,681,485 (GRCm39) |
I532T |
probably damaging |
Het |
| Zfp280d |
A |
G |
9: 72,226,539 (GRCm39) |
K328E |
probably damaging |
Het |
| Zfp365 |
A |
G |
10: 67,745,656 (GRCm39) |
S41P |
probably damaging |
Het |
|
| Other mutations in Wwp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01383:Wwp2
|
APN |
8 |
108,259,923 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01411:Wwp2
|
APN |
8 |
108,232,977 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL01503:Wwp2
|
APN |
8 |
108,276,413 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01543:Wwp2
|
APN |
8 |
108,210,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01998:Wwp2
|
APN |
8 |
108,276,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02020:Wwp2
|
APN |
8 |
108,283,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02089:Wwp2
|
APN |
8 |
108,280,689 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02131:Wwp2
|
APN |
8 |
108,278,950 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02352:Wwp2
|
APN |
8 |
108,267,278 (GRCm39) |
nonsense |
probably null |
|
|
IGL02359:Wwp2
|
APN |
8 |
108,267,278 (GRCm39) |
nonsense |
probably null |
|
|
IGL02419:Wwp2
|
APN |
8 |
108,276,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02528:Wwp2
|
APN |
8 |
108,281,099 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0639:Wwp2
|
UTSW |
8 |
108,244,578 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0834:Wwp2
|
UTSW |
8 |
108,283,428 (GRCm39) |
splice site |
probably benign |
|
|
R1573:Wwp2
|
UTSW |
8 |
108,275,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1653:Wwp2
|
UTSW |
8 |
108,210,042 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1782:Wwp2
|
UTSW |
8 |
108,233,031 (GRCm39) |
frame shift |
probably null |
|
|
R1941:Wwp2
|
UTSW |
8 |
108,244,547 (GRCm39) |
missense |
probably benign |
|
|
R2483:Wwp2
|
UTSW |
8 |
108,275,167 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4014:Wwp2
|
UTSW |
8 |
108,212,253 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4118:Wwp2
|
UTSW |
8 |
108,272,091 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4402:Wwp2
|
UTSW |
8 |
108,184,610 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5042:Wwp2
|
UTSW |
8 |
108,275,117 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5117:Wwp2
|
UTSW |
8 |
108,280,694 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5413:Wwp2
|
UTSW |
8 |
108,281,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Wwp2
|
UTSW |
8 |
108,210,039 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6232:Wwp2
|
UTSW |
8 |
108,232,977 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6323:Wwp2
|
UTSW |
8 |
108,267,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6759:Wwp2
|
UTSW |
8 |
108,267,314 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6941:Wwp2
|
UTSW |
8 |
108,275,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7109:Wwp2
|
UTSW |
8 |
108,209,988 (GRCm39) |
missense |
probably benign |
0.28 |
|
R7457:Wwp2
|
UTSW |
8 |
108,244,592 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8027:Wwp2
|
UTSW |
8 |
108,282,109 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8704:Wwp2
|
UTSW |
8 |
108,212,228 (GRCm39) |
missense |
probably benign |
|
|
R8796:Wwp2
|
UTSW |
8 |
108,283,189 (GRCm39) |
missense |
probably null |
1.00 |
|
R8844:Wwp2
|
UTSW |
8 |
108,210,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9627:Wwp2
|
UTSW |
8 |
108,278,959 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0066:Wwp2
|
UTSW |
8 |
108,244,655 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Wwp2
|
UTSW |
8 |
108,281,719 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGTCTGTATGTCATTGAGCTCAC -3'
(R):5'- ATGGTCTCTAAGGGGCAGAG -3'
Sequencing Primer
(F):5'- GTATGTCATTGAGCTCACAGACACTC -3'
(R):5'- CTCTAAGGGGCAGAGGCACTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation