Incidental Mutation 'R5943:Wwc2'
ID |
460423 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Wwc2
|
Ensembl Gene |
ENSMUSG00000031563 |
Gene Name |
WW, C2 and coiled-coil domain containing 2 |
Synonyms |
D8Ertd594e |
MMRRC Submission |
044135-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.076)
|
Stock # |
R5943 (G1)
|
Quality Score |
134 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
48279117-48443579 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 48443137 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 32
(N32S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
AlphaFold |
Q6NXJ0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057561
AA Change: N32S
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000056121 Gene: ENSMUSG00000031563 AA Change: N32S
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212282
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 93.1%
|
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars2 |
C |
A |
17: 45,828,637 (GRCm39) |
Q671K |
probably benign |
Het |
Acaa2 |
A |
G |
18: 74,925,453 (GRCm39) |
H72R |
probably damaging |
Het |
Acad8 |
A |
G |
9: 26,910,740 (GRCm39) |
L18P |
probably benign |
Het |
Acap3 |
T |
C |
4: 155,983,879 (GRCm39) |
V115A |
possibly damaging |
Het |
Adamts9 |
T |
C |
6: 92,880,767 (GRCm39) |
T503A |
probably benign |
Het |
Adcy1 |
T |
C |
11: 7,111,337 (GRCm39) |
F876S |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,534,985 (GRCm39) |
E5760G |
probably damaging |
Het |
Ankrd26 |
A |
T |
6: 118,482,707 (GRCm39) |
I1631K |
probably damaging |
Het |
Ccdc150 |
A |
G |
1: 54,339,526 (GRCm39) |
T457A |
probably benign |
Het |
Cd163 |
T |
C |
6: 124,306,561 (GRCm39) |
*1160R |
probably null |
Het |
Cdc6 |
T |
C |
11: 98,811,589 (GRCm39) |
S517P |
probably damaging |
Het |
Cenpf |
A |
T |
1: 189,392,166 (GRCm39) |
D555E |
possibly damaging |
Het |
Cfap251 |
A |
G |
5: 123,424,420 (GRCm39) |
T205A |
probably benign |
Het |
Clcn1 |
T |
A |
6: 42,269,900 (GRCm39) |
I241N |
probably damaging |
Het |
Clrn2 |
A |
T |
5: 45,621,061 (GRCm39) |
I152F |
probably benign |
Het |
Col4a4 |
A |
G |
1: 82,502,737 (GRCm39) |
I349T |
unknown |
Het |
Coq8b |
T |
A |
7: 26,933,428 (GRCm39) |
F96L |
probably damaging |
Het |
Cp |
A |
T |
3: 20,018,470 (GRCm39) |
N58I |
probably benign |
Het |
Dcst1 |
A |
T |
3: 89,263,718 (GRCm39) |
|
probably null |
Het |
Dhrs3 |
A |
T |
4: 144,646,546 (GRCm39) |
M199L |
possibly damaging |
Het |
Dido1 |
A |
T |
2: 180,303,675 (GRCm39) |
S1410T |
probably benign |
Het |
Dnase1l2 |
C |
T |
17: 24,661,721 (GRCm39) |
A13T |
probably damaging |
Het |
Duox1 |
G |
A |
2: 122,163,916 (GRCm39) |
R861Q |
probably benign |
Het |
Eya2 |
A |
G |
2: 165,566,609 (GRCm39) |
H220R |
probably damaging |
Het |
Fas |
T |
G |
19: 34,297,987 (GRCm39) |
|
probably null |
Het |
Fezf1 |
T |
A |
6: 23,246,948 (GRCm39) |
K295* |
probably null |
Het |
Gldn |
T |
G |
9: 54,245,721 (GRCm39) |
I424R |
possibly damaging |
Het |
Gnptab |
T |
C |
10: 88,269,376 (GRCm39) |
V693A |
probably benign |
Het |
Gsdma |
A |
T |
11: 98,563,852 (GRCm39) |
T269S |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,460,357 (GRCm39) |
T2209S |
probably benign |
Het |
Hoxd3 |
A |
G |
2: 74,577,173 (GRCm39) |
N351S |
probably benign |
Het |
Itpkc |
T |
A |
7: 26,912,404 (GRCm39) |
N581I |
possibly damaging |
Het |
Kank3 |
G |
T |
17: 34,037,375 (GRCm39) |
E226D |
probably damaging |
Het |
Krtap5-1 |
A |
G |
7: 141,850,788 (GRCm39) |
S7P |
unknown |
Het |
Lrriq3 |
A |
G |
3: 154,869,587 (GRCm39) |
Y304C |
probably damaging |
Het |
Man2a1 |
A |
G |
17: 64,932,375 (GRCm39) |
K154R |
probably benign |
Het |
Mdn1 |
T |
C |
4: 32,678,330 (GRCm39) |
S653P |
probably damaging |
Het |
Mri1 |
A |
T |
8: 84,980,948 (GRCm39) |
L194* |
probably null |
Het |
Mtus1 |
T |
C |
8: 41,537,302 (GRCm39) |
E138G |
probably benign |
Het |
Myo3b |
G |
A |
2: 70,117,285 (GRCm39) |
R906Q |
probably benign |
Het |
Nckipsd |
C |
T |
9: 108,689,435 (GRCm39) |
P199S |
possibly damaging |
Het |
Or52n5 |
T |
A |
7: 104,587,850 (GRCm39) |
I39N |
possibly damaging |
Het |
Or9i16 |
C |
T |
19: 13,865,116 (GRCm39) |
V153I |
possibly damaging |
Het |
Pacsin1 |
T |
C |
17: 27,925,045 (GRCm39) |
L253P |
probably damaging |
Het |
Pcca |
T |
A |
14: 122,896,188 (GRCm39) |
I268N |
probably damaging |
Het |
Pcdhga8 |
A |
G |
18: 37,949,565 (GRCm39) |
D327G |
probably damaging |
Het |
Pcnx4 |
A |
G |
12: 72,626,232 (GRCm39) |
H1146R |
probably damaging |
Het |
Pnma8b |
T |
C |
7: 16,680,362 (GRCm39) |
S449P |
probably benign |
Het |
Psmb9 |
T |
C |
17: 34,403,265 (GRCm39) |
E61G |
probably damaging |
Het |
Pxylp1 |
A |
G |
9: 96,721,203 (GRCm39) |
Y101H |
probably damaging |
Het |
Radil |
A |
G |
5: 142,471,213 (GRCm39) |
I1044T |
probably damaging |
Het |
Rnf43 |
G |
A |
11: 87,622,561 (GRCm39) |
R554H |
probably damaging |
Het |
Sp5 |
A |
T |
2: 70,305,659 (GRCm39) |
Q17L |
probably null |
Het |
Spmip1 |
T |
A |
6: 29,471,908 (GRCm39) |
L128Q |
possibly damaging |
Het |
Strn |
C |
A |
17: 78,977,276 (GRCm39) |
V211F |
probably damaging |
Het |
Sult3a1 |
A |
G |
10: 33,742,637 (GRCm39) |
D88G |
probably damaging |
Het |
Trim14 |
T |
C |
4: 46,522,136 (GRCm39) |
I180M |
probably benign |
Het |
Tsnax |
C |
A |
8: 125,751,278 (GRCm39) |
S90* |
probably null |
Het |
Ttn |
A |
G |
2: 76,798,780 (GRCm39) |
M498T |
probably benign |
Het |
Vmn1r198 |
T |
A |
13: 22,539,367 (GRCm39) |
Y195* |
probably null |
Het |
Vmn2r70 |
T |
C |
7: 85,215,199 (GRCm39) |
T112A |
probably benign |
Het |
Yme1l1 |
G |
T |
2: 23,058,342 (GRCm39) |
R158L |
probably damaging |
Het |
Zc2hc1c |
C |
A |
12: 85,336,483 (GRCm39) |
H47N |
probably damaging |
Het |
Zc3h10 |
C |
A |
10: 128,381,396 (GRCm39) |
|
probably benign |
Het |
Zfp825 |
T |
C |
13: 74,629,007 (GRCm39) |
R170G |
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 |
|
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 |
PCR Primer
(F):5'- AGTGTCTACAAGTCCCCGAG -3'
(R):5'- CAGACATGGTGGACTGATCTC -3'
Sequencing Primer
(F):5'- AGATACAGCCGCGCCTAG -3'
(R):5'- TGGACTGATCTCCGGCAG -3'
|
Posted On |
2017-02-28 |