Incidental Mutation 'R7375:Wwc2'
| ID |
572337 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
045458-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.080)
|
| Stock # |
R7375 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
48279117-48443579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 48316955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 713
(S713R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000057561
AA Change: S713R
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: S713R
| Domain | Start | End | E-Value | Type |
|---|
|
WW
|
11 |
43 |
3.92e-11 |
SMART |
|
WW
|
58 |
90 |
4.65e-4 |
SMART |
|
low complexity region
|
143 |
156 |
N/A |
INTRINSIC |
|
coiled coil region
|
162 |
194 |
N/A |
INTRINSIC |
|
coiled coil region
|
223 |
254 |
N/A |
INTRINSIC |
|
coiled coil region
|
302 |
333 |
N/A |
INTRINSIC |
|
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
|
coiled coil region
|
359 |
423 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
567 |
N/A |
INTRINSIC |
|
C2
|
713 |
818 |
5.29e0 |
SMART |
|
coiled coil region
|
857 |
884 |
N/A |
INTRINSIC |
|
coiled coil region
|
1067 |
1144 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (59/59) |
| 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 WW-and-C2-domain-containing family of proteins. Members of this family have two N-terminal WW domains that mediate binding to target proteins harboring L/PPxY motifs, an internal C2 domain for membrane association, and C-terminal alpha protein kinase C binding sites and class III PDZ domain-interaction motifs. Proteins of this family are able to form homo- and heterodimers and to modulate hippo pathway signaling. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
A |
G |
5: 8,968,671 (GRCm39) |
I337V |
probably benign |
Het |
| Abl2 |
A |
G |
1: 156,450,184 (GRCm39) |
D117G |
probably damaging |
Het |
| Arhgap5 |
T |
A |
12: 52,563,365 (GRCm39) |
L112* |
probably null |
Het |
| Brinp3 |
C |
G |
1: 146,777,748 (GRCm39) |
L732V |
possibly damaging |
Het |
| Ccdc168 |
A |
T |
1: 44,099,694 (GRCm39) |
I468N |
possibly damaging |
Het |
| Cfap91 |
T |
A |
16: 38,155,980 (GRCm39) |
H81L |
probably damaging |
Het |
| Cmya5 |
T |
G |
13: 93,228,169 (GRCm39) |
K2306N |
probably damaging |
Het |
| Col16a1 |
A |
C |
4: 129,959,294 (GRCm39) |
K680T |
unknown |
Het |
| Col28a1 |
T |
A |
6: 7,998,499 (GRCm39) |
T1137S |
possibly damaging |
Het |
| Crnn |
A |
T |
3: 93,056,452 (GRCm39) |
T413S |
possibly damaging |
Het |
| Csf1 |
A |
G |
3: 107,655,495 (GRCm39) |
L512P |
possibly damaging |
Het |
| Dlx3 |
C |
A |
11: 95,011,461 (GRCm39) |
A105D |
possibly damaging |
Het |
| Dnah3 |
T |
G |
7: 119,550,900 (GRCm39) |
T161P |
probably damaging |
Het |
| Dnah7b |
A |
G |
1: 46,342,794 (GRCm39) |
D3435G |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,295,524 (GRCm39) |
I541T |
probably benign |
Het |
| Efcc1 |
T |
C |
6: 87,728,838 (GRCm39) |
V431A |
possibly damaging |
Het |
| Enpp5 |
T |
C |
17: 44,391,868 (GRCm39) |
I99T |
probably benign |
Het |
| Gm11232 |
C |
T |
4: 71,675,583 (GRCm39) |
W59* |
probably null |
Het |
| Gxylt2 |
A |
T |
6: 100,727,383 (GRCm39) |
T166S |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,628,791 (GRCm39) |
|
probably null |
Het |
| Itga2 |
T |
C |
13: 115,005,753 (GRCm39) |
I476V |
probably benign |
Het |
| Kcnq5 |
T |
C |
1: 21,539,710 (GRCm39) |
T403A |
possibly damaging |
Het |
| Klhl42 |
A |
G |
6: 146,993,538 (GRCm39) |
K170R |
probably benign |
Het |
| Klk13 |
T |
C |
7: 43,370,582 (GRCm39) |
|
probably null |
Het |
| Krt32 |
G |
T |
11: 99,972,050 (GRCm39) |
R433S |
probably benign |
Het |
| Lrp1 |
G |
T |
10: 127,375,217 (GRCm39) |
T4461N |
probably damaging |
Het |
| Mapk10 |
A |
T |
5: 103,124,256 (GRCm39) |
M256K |
probably null |
Het |
| Mogat2 |
T |
C |
7: 98,872,905 (GRCm39) |
K93R |
probably damaging |
Het |
| Myh1 |
G |
T |
11: 67,101,254 (GRCm39) |
V677L |
probably damaging |
Het |
| Naip5 |
G |
T |
13: 100,356,205 (GRCm39) |
Q1137K |
not run |
Het |
| Naip5 |
T |
C |
13: 100,356,204 (GRCm39) |
Q1137R |
probably benign |
Het |
| Oog4 |
G |
A |
4: 143,165,544 (GRCm39) |
T201M |
possibly damaging |
Het |
| Or4a70 |
C |
T |
2: 89,324,036 (GRCm39) |
G207R |
possibly damaging |
Het |
| Pik3c2a |
T |
C |
7: 115,975,621 (GRCm39) |
T649A |
probably damaging |
Het |
| Plec |
T |
A |
15: 76,061,555 (GRCm39) |
H2794L |
possibly damaging |
Het |
| Pros1 |
T |
A |
16: 62,744,913 (GRCm39) |
N509K |
probably damaging |
Het |
| Psme3ip1 |
G |
A |
8: 95,309,636 (GRCm39) |
L119F |
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,722,700 (GRCm39) |
|
probably null |
Het |
| Ptprf |
A |
G |
4: 118,070,011 (GRCm39) |
V1457A |
probably benign |
Het |
| Rad50 |
A |
G |
11: 53,543,055 (GRCm39) |
|
probably null |
Het |
| Rfx5 |
C |
T |
3: 94,866,053 (GRCm39) |
P451S |
unknown |
Het |
| Scpppq1 |
G |
T |
5: 104,219,123 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
G |
T |
5: 141,984,598 (GRCm39) |
V728L |
probably benign |
Het |
| Sfxn4 |
T |
C |
19: 60,847,112 (GRCm39) |
D57G |
probably benign |
Het |
| Slc10a4 |
A |
G |
5: 73,169,650 (GRCm39) |
D425G |
probably benign |
Het |
| Slc17a5 |
C |
T |
9: 78,495,174 (GRCm39) |
A26T |
probably benign |
Het |
| Slc22a26 |
A |
T |
19: 7,760,509 (GRCm39) |
|
probably null |
Het |
| Slc22a30 |
A |
G |
19: 8,382,055 (GRCm39) |
L72P |
probably damaging |
Het |
| Slco6c1 |
T |
C |
1: 97,009,146 (GRCm39) |
T447A |
possibly damaging |
Het |
| Slco6d1 |
A |
G |
1: 98,349,172 (GRCm39) |
N81S |
probably damaging |
Het |
| Stard9 |
T |
C |
2: 120,495,483 (GRCm39) |
|
probably null |
Het |
| Tecpr1 |
T |
C |
5: 144,145,417 (GRCm39) |
E610G |
possibly damaging |
Het |
| Tmem81 |
G |
T |
1: 132,435,301 (GRCm39) |
V36L |
possibly damaging |
Het |
| Trabd2b |
G |
T |
4: 114,467,194 (GRCm39) |
K474N |
probably benign |
Het |
| Tspan33 |
T |
C |
6: 29,713,519 (GRCm39) |
F149L |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,606,683 (GRCm39) |
Y18076H |
probably damaging |
Het |
| Utrn |
G |
A |
10: 12,516,764 (GRCm39) |
R2277C |
probably damaging |
Het |
| Vmn2r101 |
T |
A |
17: 19,831,652 (GRCm39) |
D549E |
probably damaging |
Het |
| Vmn2r107 |
T |
A |
17: 20,576,138 (GRCm39) |
I156K |
probably benign |
Het |
| Xndc1 |
C |
A |
7: 101,730,687 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
A |
G |
9: 22,201,833 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Wwc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Wwc2
|
APN |
8 |
48,299,193 (GRCm39) |
missense |
unknown |
|
|
IGL01397:Wwc2
|
APN |
8 |
48,321,311 (GRCm39) |
missense |
unknown |
|
|
IGL01522:Wwc2
|
APN |
8 |
48,321,668 (GRCm39) |
missense |
unknown |
|
|
IGL01530:Wwc2
|
APN |
8 |
48,316,974 (GRCm39) |
missense |
unknown |
|
|
IGL01867:Wwc2
|
APN |
8 |
48,336,615 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01991:Wwc2
|
APN |
8 |
48,322,901 (GRCm39) |
nonsense |
probably null |
|
|
IGL02092:Wwc2
|
APN |
8 |
48,317,570 (GRCm39) |
missense |
unknown |
|
|
IGL02320:Wwc2
|
APN |
8 |
48,316,882 (GRCm39) |
splice site |
probably null |
|
|
IGL02503:Wwc2
|
APN |
8 |
48,302,418 (GRCm39) |
missense |
unknown |
|
|
H8562:Wwc2
|
UTSW |
8 |
48,373,701 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0244:Wwc2
|
UTSW |
8 |
48,353,756 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0331:Wwc2
|
UTSW |
8 |
48,333,239 (GRCm39) |
missense |
probably benign |
0.15 |
|
R0349:Wwc2
|
UTSW |
8 |
48,321,701 (GRCm39) |
missense |
unknown |
|
|
R0542:Wwc2
|
UTSW |
8 |
48,321,414 (GRCm39) |
missense |
unknown |
|
|
R0645:Wwc2
|
UTSW |
8 |
48,353,674 (GRCm39) |
splice site |
probably benign |
|
|
R1081:Wwc2
|
UTSW |
8 |
48,281,799 (GRCm39) |
unclassified |
probably benign |
|
|
R1167:Wwc2
|
UTSW |
8 |
48,311,814 (GRCm39) |
nonsense |
probably null |
|
|
R1646:Wwc2
|
UTSW |
8 |
48,295,937 (GRCm39) |
missense |
unknown |
|
|
R1860:Wwc2
|
UTSW |
8 |
48,443,137 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2070:Wwc2
|
UTSW |
8 |
48,321,356 (GRCm39) |
missense |
unknown |
|
|
R2183:Wwc2
|
UTSW |
8 |
48,295,961 (GRCm39) |
missense |
unknown |
|
|
R3969:Wwc2
|
UTSW |
8 |
48,309,358 (GRCm39) |
missense |
unknown |
|
|
R4096:Wwc2
|
UTSW |
8 |
48,295,937 (GRCm39) |
missense |
unknown |
|
|
R4387:Wwc2
|
UTSW |
8 |
48,284,681 (GRCm39) |
missense |
unknown |
|
|
R4447:Wwc2
|
UTSW |
8 |
48,321,702 (GRCm39) |
missense |
unknown |
|
|
R4448:Wwc2
|
UTSW |
8 |
48,321,702 (GRCm39) |
missense |
unknown |
|
|
R4450:Wwc2
|
UTSW |
8 |
48,321,702 (GRCm39) |
missense |
unknown |
|
|
R4646:Wwc2
|
UTSW |
8 |
48,373,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4869:Wwc2
|
UTSW |
8 |
48,373,713 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5159:Wwc2
|
UTSW |
8 |
48,353,796 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5317:Wwc2
|
UTSW |
8 |
48,300,590 (GRCm39) |
missense |
unknown |
|
|
R5391:Wwc2
|
UTSW |
8 |
48,316,906 (GRCm39) |
missense |
unknown |
|
|
R5728:Wwc2
|
UTSW |
8 |
48,317,096 (GRCm39) |
missense |
unknown |
|
|
R5871:Wwc2
|
UTSW |
8 |
48,321,458 (GRCm39) |
missense |
unknown |
|
|
R5943:Wwc2
|
UTSW |
8 |
48,443,137 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6137:Wwc2
|
UTSW |
8 |
48,309,298 (GRCm39) |
missense |
unknown |
|
|
R6169:Wwc2
|
UTSW |
8 |
48,311,878 (GRCm39) |
missense |
unknown |
|
|
R6363:Wwc2
|
UTSW |
8 |
48,340,197 (GRCm39) |
splice site |
probably null |
|
|
R6421:Wwc2
|
UTSW |
8 |
48,353,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6467:Wwc2
|
UTSW |
8 |
48,304,943 (GRCm39) |
missense |
unknown |
|
|
R6712:Wwc2
|
UTSW |
8 |
48,353,838 (GRCm39) |
missense |
probably benign |
0.42 |
|
R6765:Wwc2
|
UTSW |
8 |
48,353,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6766:Wwc2
|
UTSW |
8 |
48,353,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6767:Wwc2
|
UTSW |
8 |
48,353,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6768:Wwc2
|
UTSW |
8 |
48,353,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6782:Wwc2
|
UTSW |
8 |
48,353,826 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6993:Wwc2
|
UTSW |
8 |
48,300,500 (GRCm39) |
missense |
unknown |
|
|
R7016:Wwc2
|
UTSW |
8 |
48,300,583 (GRCm39) |
missense |
unknown |
|
|
R7079:Wwc2
|
UTSW |
8 |
48,300,580 (GRCm39) |
missense |
unknown |
|
|
R7219:Wwc2
|
UTSW |
8 |
48,311,919 (GRCm39) |
missense |
unknown |
|
|
R7258:Wwc2
|
UTSW |
8 |
48,296,034 (GRCm39) |
missense |
unknown |
|
|
R7334:Wwc2
|
UTSW |
8 |
48,322,829 (GRCm39) |
missense |
unknown |
|
|
R7451:Wwc2
|
UTSW |
8 |
48,317,610 (GRCm39) |
missense |
not run |
|
|
R7505:Wwc2
|
UTSW |
8 |
48,333,185 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7825:Wwc2
|
UTSW |
8 |
48,443,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7854:Wwc2
|
UTSW |
8 |
48,321,512 (GRCm39) |
missense |
unknown |
|
|
R7904:Wwc2
|
UTSW |
8 |
48,309,270 (GRCm39) |
missense |
unknown |
|
|
R8811:Wwc2
|
UTSW |
8 |
48,336,579 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R8985:Wwc2
|
UTSW |
8 |
48,331,919 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9004:Wwc2
|
UTSW |
8 |
48,373,732 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9133:Wwc2
|
UTSW |
8 |
48,305,007 (GRCm39) |
missense |
unknown |
|
|
R9339:Wwc2
|
UTSW |
8 |
48,353,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9598:Wwc2
|
UTSW |
8 |
48,328,360 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9633:Wwc2
|
UTSW |
8 |
48,304,959 (GRCm39) |
frame shift |
probably null |
|
|
R9634:Wwc2
|
UTSW |
8 |
48,304,959 (GRCm39) |
frame shift |
probably null |
|
|
R9691:Wwc2
|
UTSW |
8 |
48,281,799 (GRCm39) |
unclassified |
probably benign |
|
|
R9799:Wwc2
|
UTSW |
8 |
48,321,595 (GRCm39) |
missense |
unknown |
|
|
Z1176:Wwc2
|
UTSW |
8 |
48,321,584 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGTCACGTTTCCCCAATC -3'
(R):5'- AAGAGGATGTCACCATTGTGG -3'
Sequencing Primer
(F):5'- TCCATGTACAGCTATCTGCAGAGG -3'
(R):5'- TCACCATTGTGGAGACTGC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation