Incidental Mutation 'R8811:Wwc2'
| ID |
672409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
068646-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R8811 (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 48336579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 228
(I228L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057561
AA Change: I228L
PolyPhen 2
Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: I228L
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
G |
17: 24,536,212 (GRCm39) |
K485T |
probably benign |
Het |
| Abcc12 |
G |
T |
8: 87,280,023 (GRCm39) |
L337M |
probably damaging |
Het |
| Adcy4 |
T |
C |
14: 56,010,221 (GRCm39) |
D687G |
probably benign |
Het |
| Aldoc |
T |
A |
11: 78,215,610 (GRCm39) |
I98N |
probably damaging |
Het |
| Aoah |
T |
A |
13: 21,184,121 (GRCm39) |
V395D |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,036,403 (GRCm39) |
R397W |
probably damaging |
Het |
| Arl16 |
A |
T |
11: 120,357,526 (GRCm39) |
M63K |
probably damaging |
Het |
| Atf7 |
T |
C |
15: 102,502,144 (GRCm39) |
D4G |
probably damaging |
Het |
| Atp6v0d2 |
A |
T |
4: 19,922,397 (GRCm39) |
V34D |
probably benign |
Het |
| Calhm4 |
T |
A |
10: 33,917,661 (GRCm39) |
K263N |
probably benign |
Het |
| Camk1g |
C |
G |
1: 193,044,408 (GRCm39) |
G2A |
probably damaging |
Het |
| Cenpe |
A |
G |
3: 134,929,001 (GRCm39) |
T302A |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,253,246 (GRCm39) |
V1246A |
probably benign |
Het |
| Csmd3 |
T |
C |
15: 47,560,139 (GRCm39) |
D1397G |
|
Het |
| Ddx39b |
T |
A |
17: 35,463,435 (GRCm39) |
S115T |
probably benign |
Het |
| Dnaja3 |
C |
A |
16: 4,514,383 (GRCm39) |
T305K |
probably benign |
Het |
| Dusp7 |
C |
G |
9: 106,248,241 (GRCm39) |
H290D |
probably benign |
Het |
| Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
| Erbin |
C |
T |
13: 104,022,824 (GRCm39) |
R5Q |
probably damaging |
Het |
| Fam3b |
T |
C |
16: 97,313,715 (GRCm39) |
|
probably benign |
Het |
| Foxn3 |
T |
C |
12: 99,162,951 (GRCm39) |
S317G |
probably benign |
Het |
| Gipc1 |
T |
A |
8: 84,388,919 (GRCm39) |
M177K |
possibly damaging |
Het |
| Grpel2 |
A |
C |
18: 61,851,823 (GRCm39) |
|
probably benign |
Het |
| Htr1a |
G |
C |
13: 105,581,101 (GRCm39) |
A114P |
probably damaging |
Het |
| Iqch |
A |
T |
9: 63,452,195 (GRCm39) |
M210K |
possibly damaging |
Het |
| Kdelr3 |
T |
C |
15: 79,410,052 (GRCm39) |
I179T |
possibly damaging |
Het |
| Lat2 |
C |
T |
5: 134,635,553 (GRCm39) |
|
probably benign |
Het |
| Mcrip1 |
A |
G |
11: 120,435,605 (GRCm39) |
V10A |
probably damaging |
Het |
| Mib1 |
C |
T |
18: 10,755,643 (GRCm39) |
L350F |
probably benign |
Het |
| Nhlrc2 |
T |
A |
19: 56,583,344 (GRCm39) |
V605E |
probably benign |
Het |
| Nup133 |
AAGAGA |
AAGA |
8: 124,638,627 (GRCm39) |
900 |
probably null |
Het |
| Nutm2 |
A |
T |
13: 50,623,989 (GRCm39) |
I229F |
probably benign |
Het |
| Or6f1 |
G |
A |
7: 85,970,989 (GRCm39) |
T57M |
probably damaging |
Het |
| Phkb |
T |
C |
8: 86,745,156 (GRCm39) |
V611A |
possibly damaging |
Het |
| Polg2 |
A |
T |
11: 106,670,208 (GRCm39) |
Y21N |
probably benign |
Het |
| Prss28 |
T |
A |
17: 25,528,627 (GRCm39) |
I23N |
probably benign |
Het |
| Ptprz1 |
G |
A |
6: 23,030,661 (GRCm39) |
V1856I |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,108,237 (GRCm39) |
I526N |
probably damaging |
Het |
| Slc24a4 |
T |
C |
12: 102,180,133 (GRCm39) |
F68S |
probably damaging |
Het |
| Slc37a3 |
A |
G |
6: 39,322,274 (GRCm39) |
S377P |
probably damaging |
Het |
| Smoc2 |
T |
C |
17: 14,545,896 (GRCm39) |
S62P |
probably damaging |
Het |
| Sox4 |
A |
G |
13: 29,136,911 (GRCm39) |
S32P |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,689,541 (GRCm39) |
Q426L |
|
Het |
| Synrg |
T |
G |
11: 83,910,410 (GRCm39) |
S937A |
probably benign |
Het |
| Tbr1 |
C |
A |
2: 61,642,196 (GRCm39) |
T487K |
possibly damaging |
Het |
| Tll2 |
T |
C |
19: 41,195,012 (GRCm39) |
T25A |
probably benign |
Het |
| Trim31 |
T |
C |
17: 37,210,875 (GRCm39) |
F169S |
probably benign |
Het |
| Tro |
G |
A |
X: 149,438,555 (GRCm39) |
S34L |
unknown |
Het |
| Tspear |
T |
C |
10: 77,665,463 (GRCm39) |
F83S |
probably benign |
Het |
| Ubr5 |
C |
A |
15: 38,041,123 (GRCm39) |
A254S |
|
Het |
| Ubtfl1 |
A |
G |
9: 18,321,459 (GRCm39) |
E329G |
probably benign |
Het |
| Vmn2r45 |
A |
G |
7: 8,474,881 (GRCm39) |
W716R |
probably damaging |
Het |
| Vmn2r67 |
T |
C |
7: 84,799,895 (GRCm39) |
M448V |
probably damaging |
Het |
| Zbtb20 |
T |
C |
16: 43,430,857 (GRCm39) |
V383A |
probably benign |
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 |
|
|
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 |
|
|
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'- AGGCTCCCTGCACTCTACTTAG -3'
(R):5'- AAAGTCGTCTTCTCAGGAGGG -3'
Sequencing Primer
(F):5'- CTCTACTTAGTCTGAAAGGACACCTG -3'
(R):5'- CTGCACCTGTCTTGTTGA -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation