Incidental Mutation 'R1167:Wwc2'
| ID |
101145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
039240-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R1167 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
48279117-48443579 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 48311814 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 783
(L783*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000057561
AA Change: L783*
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: L783*
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.3%
|
| Validation Efficiency |
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
A |
T |
7: 40,643,003 (GRCm39) |
D315V |
probably damaging |
Het |
| Acr |
T |
C |
15: 89,458,177 (GRCm39) |
I286T |
probably damaging |
Het |
| Adnp |
A |
G |
2: 168,026,420 (GRCm39) |
S292P |
probably benign |
Het |
| Apol6 |
T |
A |
15: 76,931,308 (GRCm39) |
Y17* |
probably null |
Het |
| Arhgap22 |
A |
G |
14: 33,065,264 (GRCm39) |
|
probably null |
Het |
| Bfar |
A |
G |
16: 13,516,758 (GRCm39) |
K202E |
possibly damaging |
Het |
| Bmpr2 |
A |
T |
1: 59,898,463 (GRCm39) |
S470C |
probably damaging |
Het |
| Cep135 |
A |
G |
5: 76,772,484 (GRCm39) |
E623G |
probably damaging |
Het |
| Clcn3 |
A |
G |
8: 61,375,822 (GRCm39) |
|
probably null |
Het |
| Clptm1 |
A |
T |
7: 19,368,136 (GRCm39) |
M523K |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,561,312 (GRCm39) |
W117R |
probably damaging |
Het |
| Dnmt3c |
T |
G |
2: 153,553,701 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
G |
1: 34,262,939 (GRCm39) |
E2212G |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,245,795 (GRCm39) |
T238A |
probably benign |
Het |
| Elmo1 |
T |
C |
13: 20,369,625 (GRCm39) |
V10A |
probably damaging |
Het |
| Ermp1 |
A |
G |
19: 29,606,079 (GRCm39) |
S225P |
possibly damaging |
Het |
| Fem1al |
C |
T |
11: 29,773,567 (GRCm39) |
R630H |
probably damaging |
Het |
| Fes |
A |
T |
7: 80,032,857 (GRCm39) |
L296Q |
probably damaging |
Het |
| Foxn1 |
A |
T |
11: 78,249,892 (GRCm39) |
N544K |
probably damaging |
Het |
| Gga1 |
C |
G |
15: 78,772,370 (GRCm39) |
N223K |
probably damaging |
Het |
| Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably null |
Het |
| Gm4884 |
A |
T |
7: 40,693,336 (GRCm39) |
Q435L |
possibly damaging |
Het |
| Gm8444 |
T |
C |
15: 81,727,581 (GRCm39) |
|
probably benign |
Het |
| Ift140 |
T |
G |
17: 25,254,719 (GRCm39) |
S131A |
probably benign |
Het |
| Ipo4 |
A |
G |
14: 55,872,477 (GRCm39) |
L88P |
probably damaging |
Het |
| Itgal |
G |
A |
7: 126,900,111 (GRCm39) |
S123N |
probably damaging |
Het |
| Kcnn3 |
C |
T |
3: 89,472,259 (GRCm39) |
Q344* |
probably null |
Het |
| Lrrc8e |
A |
T |
8: 4,285,337 (GRCm39) |
M521L |
probably benign |
Het |
| Myocd |
G |
T |
11: 65,087,203 (GRCm39) |
D113E |
possibly damaging |
Het |
| Nek4 |
G |
A |
14: 30,696,302 (GRCm39) |
R499H |
possibly damaging |
Het |
| Notch3 |
T |
C |
17: 32,341,719 (GRCm39) |
D2011G |
possibly damaging |
Het |
| Ola1 |
A |
G |
2: 72,927,538 (GRCm39) |
V347A |
probably damaging |
Het |
| Or13p5 |
C |
A |
4: 118,591,829 (GRCm39) |
F34L |
possibly damaging |
Het |
| Or6c75 |
G |
A |
10: 129,337,019 (GRCm39) |
V89I |
probably benign |
Het |
| Or8u10 |
A |
G |
2: 85,915,635 (GRCm39) |
V162A |
probably benign |
Het |
| Oxct2b |
A |
G |
4: 123,011,378 (GRCm39) |
T433A |
probably damaging |
Het |
| P2ry14 |
T |
C |
3: 59,022,552 (GRCm39) |
R312G |
probably damaging |
Het |
| Pbrm1 |
A |
G |
14: 30,772,099 (GRCm39) |
N398D |
probably damaging |
Het |
| Pdc |
T |
C |
1: 150,208,996 (GRCm39) |
Y160H |
probably damaging |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Pop4 |
A |
T |
7: 37,962,693 (GRCm39) |
D190E |
probably benign |
Het |
| Prb1c |
G |
A |
6: 132,338,553 (GRCm39) |
P222S |
unknown |
Het |
| R3hdm4 |
A |
G |
10: 79,747,907 (GRCm39) |
|
probably null |
Het |
| Rab1a |
C |
A |
11: 20,173,172 (GRCm39) |
T91K |
possibly damaging |
Het |
| Rad9a |
A |
G |
19: 4,247,501 (GRCm39) |
V215A |
possibly damaging |
Het |
| Rassf3 |
A |
G |
10: 121,252,159 (GRCm39) |
V84A |
probably damaging |
Het |
| Rftn2 |
G |
A |
1: 55,243,458 (GRCm39) |
T270M |
probably damaging |
Het |
| Rho |
A |
G |
6: 115,912,384 (GRCm39) |
T100A |
probably damaging |
Het |
| Rnft2 |
T |
C |
5: 118,366,947 (GRCm39) |
I264V |
possibly damaging |
Het |
| Robo3 |
A |
T |
9: 37,335,203 (GRCm39) |
Y567* |
probably null |
Het |
| Rpp14 |
T |
A |
14: 8,083,705 (GRCm38) |
|
probably null |
Het |
| Rtkn2 |
T |
C |
10: 67,833,450 (GRCm39) |
S98P |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,674,999 (GRCm39) |
V3376A |
possibly damaging |
Het |
| Sbf2 |
A |
T |
7: 109,963,756 (GRCm39) |
W1030R |
probably damaging |
Het |
| Setbp1 |
G |
A |
18: 78,900,451 (GRCm39) |
A1072V |
possibly damaging |
Het |
| Slc4a10 |
A |
G |
2: 62,058,918 (GRCm39) |
K142E |
probably damaging |
Het |
| Slc52a2 |
A |
G |
15: 76,423,791 (GRCm39) |
E40G |
probably benign |
Het |
| Slc8a2 |
A |
G |
7: 15,891,312 (GRCm39) |
N784S |
possibly damaging |
Het |
| Spats2l |
A |
T |
1: 57,982,270 (GRCm39) |
Q384L |
probably damaging |
Het |
| Steap4 |
A |
C |
5: 8,026,520 (GRCm39) |
K161T |
probably benign |
Het |
| Taf10 |
T |
C |
7: 105,392,438 (GRCm39) |
S188G |
probably benign |
Het |
| Tbc1d4 |
C |
T |
14: 101,845,455 (GRCm39) |
D148N |
probably damaging |
Het |
| Tenm2 |
T |
G |
11: 36,755,511 (GRCm39) |
K162N |
probably benign |
Het |
| Tmem147 |
A |
G |
7: 30,427,221 (GRCm39) |
V146A |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,755,323 (GRCm39) |
S100P |
possibly damaging |
Het |
| Trim56 |
T |
C |
5: 137,141,374 (GRCm39) |
Y714C |
probably damaging |
Het |
| Ubxn8 |
A |
G |
8: 34,131,929 (GRCm39) |
S13P |
probably damaging |
Het |
| Usp49 |
A |
G |
17: 47,983,151 (GRCm39) |
D52G |
possibly damaging |
Het |
| Vegfc |
A |
C |
8: 54,639,078 (GRCm39) |
Y408S |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,954 (GRCm39) |
N280S |
probably benign |
Het |
| Vmn2r8 |
T |
A |
5: 108,951,042 (GRCm39) |
L134F |
probably benign |
Het |
| Wdfy3 |
T |
A |
5: 102,023,797 (GRCm39) |
I2437F |
probably benign |
Het |
| Zer1 |
C |
T |
2: 29,998,258 (GRCm39) |
R351H |
probably benign |
Het |
| Zfp715 |
A |
T |
7: 42,947,861 (GRCm39) |
F700I |
possibly damaging |
Het |
| Zfp995 |
G |
A |
17: 22,098,960 (GRCm39) |
H425Y |
probably damaging |
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 |
|
|
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 |
|
|
R7375:Wwc2
|
UTSW |
8 |
48,316,955 (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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation