Incidental Mutation 'R8985:Wwc2'
| ID |
683967 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
068818-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R8985 (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 A
at 48331919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 299
(R299S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057561
AA Change: R299S
PolyPhen 2
Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: R299S
| 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: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (74/74) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
A |
3: 36,141,860 (GRCm39) |
|
probably benign |
Het |
| Agbl1 |
C |
A |
7: 75,969,904 (GRCm39) |
S53R |
|
Het |
| Ahr |
T |
C |
12: 35,576,736 (GRCm39) |
K65R |
possibly damaging |
Het |
| AI429214 |
A |
T |
8: 37,460,820 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
C |
10: 128,222,978 (GRCm39) |
S643P |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,051,336 (GRCm39) |
T448A |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,438,092 (GRCm39) |
I425V |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,624,399 (GRCm39) |
Y397* |
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,432,102 (GRCm39) |
I1797T |
probably damaging |
Het |
| Cdc20b |
A |
T |
13: 113,196,330 (GRCm39) |
R152* |
probably null |
Het |
| Cdc25b |
T |
C |
2: 131,035,180 (GRCm39) |
C313R |
probably damaging |
Het |
| Cfap73 |
T |
A |
5: 120,768,123 (GRCm39) |
T212S |
probably benign |
Het |
| Chd9 |
G |
T |
8: 91,721,101 (GRCm39) |
R963L |
unknown |
Het |
| Clip4 |
G |
T |
17: 72,113,527 (GRCm39) |
V226F |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,664 (GRCm39) |
S475P |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Crtc1 |
T |
G |
8: 70,855,092 (GRCm39) |
H176P |
probably damaging |
Het |
| Cspg5 |
T |
C |
9: 110,085,502 (GRCm39) |
W558R |
unknown |
Het |
| Cyp2c39 |
A |
G |
19: 39,552,419 (GRCm39) |
T371A |
probably benign |
Het |
| Dcaf8 |
G |
A |
1: 172,000,199 (GRCm39) |
R119H |
probably benign |
Het |
| Drosha |
G |
T |
15: 12,924,187 (GRCm39) |
A1190S |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,288,886 (GRCm39) |
V5655A |
probably benign |
Het |
| Etnk1 |
C |
G |
6: 143,140,953 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,440,499 (GRCm39) |
V269D |
probably benign |
Het |
| Foxs1 |
T |
A |
2: 152,775,058 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,141,595 (GRCm39) |
Y551C |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 38,895,019 (GRCm39) |
H395L |
probably damaging |
Het |
| Grm6 |
C |
T |
11: 50,746,537 (GRCm39) |
A289V |
possibly damaging |
Het |
| Hook1 |
A |
G |
4: 95,910,468 (GRCm39) |
D694G |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igha |
T |
C |
12: 113,222,611 (GRCm39) |
E270G |
|
Het |
| Itga2b |
C |
A |
11: 102,356,288 (GRCm39) |
|
probably benign |
Het |
| Jade1 |
A |
C |
3: 41,568,148 (GRCm39) |
S739R |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,738,674 (GRCm39) |
S209P |
probably benign |
Het |
| Ly6i |
A |
C |
15: 74,851,806 (GRCm39) |
L121R |
probably damaging |
Het |
| Ms4a1 |
C |
T |
19: 11,232,055 (GRCm39) |
V107I |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,404,722 (GRCm39) |
T74S |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,796,436 (GRCm39) |
N921D |
probably benign |
Het |
| Nmur1 |
C |
T |
1: 86,314,103 (GRCm39) |
E388K |
probably benign |
Het |
| Nol4 |
T |
C |
18: 23,085,294 (GRCm39) |
Y40C |
probably damaging |
Het |
| Or1e1c |
T |
C |
11: 73,266,252 (GRCm39) |
S229P |
possibly damaging |
Het |
| Or51k1 |
A |
T |
7: 103,661,367 (GRCm39) |
C181S |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,621 (GRCm39) |
Y22* |
probably null |
Het |
| Pawr |
G |
A |
10: 108,247,861 (GRCm39) |
V283M |
possibly damaging |
Het |
| Pde6b |
T |
C |
5: 108,578,503 (GRCm39) |
Y814H |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,724,239 (GRCm39) |
L1272H |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,764,849 (GRCm39) |
T1350A |
probably benign |
Het |
| Plcz1 |
T |
A |
6: 139,961,903 (GRCm39) |
Q216L |
possibly damaging |
Het |
| Prodh |
A |
T |
16: 17,890,362 (GRCm39) |
C522S |
probably null |
Het |
| Rasef |
G |
T |
4: 73,708,960 (GRCm39) |
P91Q |
possibly damaging |
Het |
| Rgs14 |
G |
A |
13: 55,531,234 (GRCm39) |
|
probably benign |
Het |
| Rnase6 |
A |
T |
14: 51,367,632 (GRCm39) |
Y8F |
unknown |
Het |
| Rnf216 |
T |
A |
5: 143,076,180 (GRCm39) |
T235S |
probably benign |
Het |
| Slco2a1 |
G |
A |
9: 102,949,834 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
A |
G |
12: 81,226,261 (GRCm39) |
E362G |
probably damaging |
Het |
| Sncaip |
T |
C |
18: 53,002,169 (GRCm39) |
L230P |
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,743,597 (GRCm39) |
E515G |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Tmem9 |
T |
A |
1: 135,955,145 (GRCm39) |
V93D |
possibly damaging |
Het |
| Tpm3-rs7 |
A |
C |
14: 113,552,756 (GRCm39) |
I217L |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,566,956 (GRCm39) |
I541F |
possibly damaging |
Het |
| Uck2 |
T |
C |
1: 167,070,681 (GRCm39) |
D16G |
probably benign |
Het |
| Vmn1r50 |
A |
G |
6: 90,085,017 (GRCm39) |
D254G |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,779,974 (GRCm39) |
F469C |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,259 (GRCm39) |
V830A |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,228,346 (GRCm39) |
G352R |
probably damaging |
Het |
| Xkr9 |
A |
T |
1: 13,770,990 (GRCm39) |
M169L |
probably benign |
Het |
| Zbtb10 |
A |
G |
3: 9,345,807 (GRCm39) |
D767G |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,366,077 (GRCm39) |
Y65C |
|
Het |
| Zfp536 |
A |
G |
7: 37,268,228 (GRCm39) |
L396P |
probably damaging |
Het |
| Znhit1 |
C |
A |
5: 137,011,408 (GRCm39) |
C135F |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,241,834 (GRCm39) |
E351G |
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 |
|
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'- TGTCACATGTCACCACAGTG -3'
(R):5'- TTGCATTTACACTGTGGGGAAG -3'
Sequencing Primer
(F):5'- GTGGCCACACATCTGTCACATG -3'
(R):5'- CTGAAGTCTTCACGGAGCAGAC -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation