Incidental Mutation 'R9598:Wwc2'
| ID |
723392 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R9598 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
48279117-48443579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 48328360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 367
(S367L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057561
AA Change: S367L
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: S367L
| 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: 99.6%
- 20x: 98.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921539E11Rik |
T |
C |
4: 103,088,604 (GRCm39) |
I302V |
probably benign |
Het |
| Ackr2 |
A |
C |
9: 121,737,657 (GRCm39) |
T11P |
possibly damaging |
Het |
| Ahnak |
A |
G |
19: 8,981,149 (GRCm39) |
N811S |
probably benign |
Het |
| Atm |
T |
C |
9: 53,431,381 (GRCm39) |
I326V |
probably benign |
Het |
| Ccn4 |
T |
A |
15: 66,784,764 (GRCm39) |
C146S |
possibly damaging |
Het |
| Cdh23 |
A |
T |
10: 60,214,574 (GRCm39) |
F1480L |
probably benign |
Het |
| Celsr2 |
T |
C |
3: 108,322,578 (GRCm39) |
E78G |
possibly damaging |
Het |
| Ces1f |
A |
T |
8: 93,983,494 (GRCm39) |
N504K |
probably benign |
Het |
| Chrna4 |
G |
A |
2: 180,679,264 (GRCm39) |
S61L |
probably damaging |
Het |
| Clcn3 |
G |
T |
8: 61,366,061 (GRCm39) |
T864K |
unknown |
Het |
| Cym |
A |
C |
3: 107,126,941 (GRCm39) |
D71E |
possibly damaging |
Het |
| Ddx19b |
T |
C |
8: 111,747,673 (GRCm39) |
D87G |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,292,621 (GRCm39) |
V3002A |
possibly damaging |
Het |
| Dnmt3a |
G |
A |
12: 3,946,997 (GRCm39) |
G408S |
probably benign |
Het |
| Dock10 |
A |
T |
1: 80,625,939 (GRCm39) |
D66E |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,672,789 (GRCm39) |
D820G |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,153,014 (GRCm39) |
V92I |
possibly damaging |
Het |
| Dusp16 |
T |
A |
6: 134,695,185 (GRCm39) |
T549S |
probably benign |
Het |
| Ephx1 |
T |
A |
1: 180,827,381 (GRCm39) |
K91* |
probably null |
Het |
| Flii |
A |
G |
11: 60,617,991 (GRCm39) |
F9L |
probably benign |
Het |
| Fmn2 |
T |
C |
1: 174,436,308 (GRCm39) |
S760P |
unknown |
Het |
| Fmnl3 |
A |
T |
15: 99,223,210 (GRCm39) |
V378E |
probably damaging |
Het |
| Gbp4 |
A |
G |
5: 105,284,740 (GRCm39) |
S50P |
probably damaging |
Het |
| Glra3 |
G |
T |
8: 56,393,718 (GRCm39) |
|
probably benign |
Het |
| Gm10188 |
T |
C |
1: 132,157,033 (GRCm39) |
D111G |
unknown |
Het |
| Gnptab |
A |
T |
10: 88,247,876 (GRCm39) |
E101V |
probably damaging |
Het |
| Hacl1 |
C |
A |
14: 31,332,197 (GRCm39) |
M525I |
probably benign |
Het |
| Hid1 |
T |
A |
11: 115,239,738 (GRCm39) |
T731S |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,751,522 (GRCm39) |
Y847C |
probably damaging |
Het |
| Igfbpl1 |
C |
A |
4: 45,815,472 (GRCm39) |
L221F |
probably null |
Het |
| Ighv1-12 |
A |
G |
12: 114,579,757 (GRCm39) |
Y22H |
probably benign |
Het |
| Inpp5f |
A |
C |
7: 128,278,515 (GRCm39) |
D435A |
possibly damaging |
Het |
| L3mbtl4 |
T |
A |
17: 68,866,767 (GRCm39) |
H335Q |
probably benign |
Het |
| Mapre2 |
A |
G |
18: 24,016,707 (GRCm39) |
D287G |
probably benign |
Het |
| Mfsd14b |
G |
A |
13: 65,214,522 (GRCm39) |
R477W |
probably benign |
Het |
| Mfsd14b |
C |
A |
13: 65,221,414 (GRCm39) |
V293L |
probably benign |
Het |
| Msh4 |
A |
T |
3: 153,607,148 (GRCm39) |
S131T |
possibly damaging |
Het |
| Nat8f2 |
A |
T |
6: 85,844,848 (GRCm39) |
D171E |
probably benign |
Het |
| Ndufb5 |
G |
T |
3: 32,795,881 (GRCm39) |
L24F |
probably benign |
Het |
| Nkain2 |
T |
C |
10: 32,278,291 (GRCm39) |
I45V |
probably damaging |
Het |
| Nlrp9b |
T |
G |
7: 19,753,302 (GRCm39) |
M69R |
probably benign |
Het |
| Or4k37 |
A |
T |
2: 111,159,633 (GRCm39) |
R290* |
probably null |
Het |
| Or5d39 |
A |
C |
2: 87,979,935 (GRCm39) |
C143G |
probably damaging |
Het |
| Or5d46 |
A |
T |
2: 88,170,821 (GRCm39) |
K304I |
possibly damaging |
Het |
| Oxct2b |
T |
A |
4: 123,010,413 (GRCm39) |
V111E |
possibly damaging |
Het |
| Parva |
T |
A |
7: 112,187,753 (GRCm39) |
V350D |
probably damaging |
Het |
| Pcdhb7 |
A |
G |
18: 37,475,434 (GRCm39) |
D190G |
probably damaging |
Het |
| Pik3c2b |
T |
C |
1: 133,012,725 (GRCm39) |
|
probably null |
Het |
| Plcz1 |
T |
A |
6: 139,985,484 (GRCm39) |
Q19L |
possibly damaging |
Het |
| Prag1 |
A |
G |
8: 36,571,069 (GRCm39) |
N551D |
probably benign |
Het |
| Rb1cc1 |
G |
A |
1: 6,310,189 (GRCm39) |
V196I |
probably damaging |
Het |
| Rnf113a2 |
T |
C |
12: 84,464,270 (GRCm39) |
V54A |
probably benign |
Het |
| Sec14l1 |
G |
A |
11: 117,044,102 (GRCm39) |
E537K |
probably damaging |
Het |
| Shank1 |
G |
A |
7: 43,962,342 (GRCm39) |
S71N |
unknown |
Het |
| Shtn1 |
T |
A |
19: 59,026,735 (GRCm39) |
I119F |
probably damaging |
Het |
| Szt2 |
A |
G |
4: 118,266,358 (GRCm39) |
|
probably null |
Het |
| Tasp1 |
T |
C |
2: 139,819,567 (GRCm39) |
D212G |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,994,608 (GRCm39) |
|
probably null |
Het |
| Usp17lb |
T |
C |
7: 104,489,718 (GRCm39) |
K403R |
probably benign |
Het |
| Vcpip1 |
A |
G |
1: 9,816,019 (GRCm39) |
V788A |
probably benign |
Het |
| Wdr25 |
C |
A |
12: 108,864,613 (GRCm39) |
H253N |
probably benign |
Het |
| Zfr |
A |
G |
15: 12,162,292 (GRCm39) |
E814G |
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 |
|
|
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 |
|
|
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 |
|
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'- TCTTGCGTGAGTCTACTAACAAC -3'
(R):5'- CTTCGTGGGATTCCTGAATGC -3'
Sequencing Primer
(F):5'- GCTATTTAGAGTCCCAAACCTGG -3'
(R):5'- GATTCCTGAATGCTTGTGTCTTC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation