Incidental Mutation 'R7505:Wwc2'
| ID |
581731 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
045578-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R7505 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
48279117-48443579 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 48333185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 277
(L277Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057561
AA Change: L277Q
PolyPhen 2
Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: L277Q
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd2 |
T |
A |
15: 91,033,260 (GRCm39) |
N719Y |
possibly damaging |
Het |
| Adamts2 |
T |
C |
11: 50,687,347 (GRCm39) |
I1058T |
probably benign |
Het |
| Alb |
T |
A |
5: 90,617,368 (GRCm39) |
Y356N |
probably damaging |
Het |
| Ankrd52 |
A |
G |
10: 128,225,924 (GRCm39) |
N971D |
probably damaging |
Het |
| Atp6v1c2 |
A |
G |
12: 17,347,724 (GRCm39) |
|
probably null |
Het |
| Atp6v1h |
A |
T |
1: 5,194,561 (GRCm39) |
I247L |
probably benign |
Het |
| Cacna1s |
C |
T |
1: 136,013,187 (GRCm39) |
R593* |
probably null |
Het |
| Cacna2d3 |
C |
T |
14: 28,767,501 (GRCm39) |
|
probably null |
Het |
| Cdh15 |
G |
A |
8: 123,575,231 (GRCm39) |
G2D |
probably benign |
Het |
| Cebpe |
G |
T |
14: 54,948,113 (GRCm39) |
N243K |
probably damaging |
Het |
| Celf2 |
A |
T |
2: 6,629,511 (GRCm39) |
M136K |
probably damaging |
Het |
| Cep290 |
A |
G |
10: 100,352,127 (GRCm39) |
I778V |
probably benign |
Het |
| Col22a1 |
A |
T |
15: 71,671,248 (GRCm39) |
C1592* |
probably null |
Het |
| Cpne2 |
A |
T |
8: 95,275,094 (GRCm39) |
N34I |
possibly damaging |
Het |
| Cps1 |
A |
G |
1: 67,219,240 (GRCm39) |
N860S |
probably benign |
Het |
| Disp2 |
T |
G |
2: 118,621,569 (GRCm39) |
L767R |
probably damaging |
Het |
| Eif1ad19 |
A |
T |
12: 87,740,270 (GRCm39) |
N96K |
probably benign |
Het |
| Evpl |
A |
G |
11: 116,117,813 (GRCm39) |
|
probably null |
Het |
| F7 |
A |
T |
8: 13,078,745 (GRCm39) |
N59Y |
possibly damaging |
Het |
| Fam98a |
A |
T |
17: 75,845,233 (GRCm39) |
H504Q |
unknown |
Het |
| Fbxo4 |
G |
A |
15: 4,000,903 (GRCm39) |
R270C |
probably benign |
Het |
| Fcgbp |
T |
C |
7: 27,789,099 (GRCm39) |
V555A |
probably damaging |
Het |
| Fgf4 |
T |
C |
7: 144,415,498 (GRCm39) |
V86A |
possibly damaging |
Het |
| Fpgt |
G |
T |
3: 154,792,413 (GRCm39) |
A538D |
possibly damaging |
Het |
| Gars1 |
A |
G |
6: 55,029,162 (GRCm39) |
T181A |
probably benign |
Het |
| Gask1a |
G |
C |
9: 121,805,483 (GRCm39) |
G425R |
probably benign |
Het |
| Gbx2 |
A |
G |
1: 89,856,455 (GRCm39) |
S312P |
probably benign |
Het |
| Gm29735 |
C |
T |
7: 141,710,327 (GRCm39) |
C175Y |
unknown |
Het |
| Gm7995 |
A |
G |
14: 42,132,314 (GRCm39) |
T49A |
|
Het |
| Hnrnpk |
A |
G |
13: 58,547,783 (GRCm39) |
M27T |
probably benign |
Het |
| Idh3b |
A |
G |
2: 130,126,147 (GRCm39) |
S20P |
probably benign |
Het |
| Idh3b |
G |
C |
2: 130,126,153 (GRCm39) |
R18G |
probably benign |
Het |
| Ighg2b |
T |
A |
12: 113,268,600 (GRCm39) |
T354S |
|
Het |
| Lrfn2 |
T |
A |
17: 49,403,479 (GRCm39) |
M534K |
probably benign |
Het |
| Mcpt8 |
G |
A |
14: 56,320,548 (GRCm39) |
A127V |
probably benign |
Het |
| Msi2 |
A |
T |
11: 88,304,743 (GRCm39) |
N176K |
possibly damaging |
Het |
| Mtr |
G |
T |
13: 12,236,362 (GRCm39) |
D621E |
probably benign |
Het |
| Nlrp5 |
T |
A |
7: 23,106,925 (GRCm39) |
I63N |
probably benign |
Het |
| Nol6 |
T |
C |
4: 41,120,352 (GRCm39) |
D455G |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,098,757 (GRCm39) |
S637T |
probably benign |
Het |
| Ntn4 |
G |
T |
10: 93,543,146 (GRCm39) |
G291W |
probably damaging |
Het |
| Or13a28 |
C |
A |
7: 140,217,965 (GRCm39) |
T117K |
probably damaging |
Het |
| Or4d10 |
T |
A |
19: 12,051,969 (GRCm39) |
E9V |
possibly damaging |
Het |
| Otof |
T |
A |
5: 30,528,364 (GRCm39) |
T1865S |
probably benign |
Het |
| Plec |
A |
T |
15: 76,065,394 (GRCm39) |
S1559T |
unknown |
Het |
| Plekhm1 |
C |
T |
11: 103,270,855 (GRCm39) |
|
probably null |
Het |
| Plin4 |
T |
A |
17: 56,416,357 (GRCm39) |
Q49L |
possibly damaging |
Het |
| Polrmt |
A |
G |
10: 79,573,717 (GRCm39) |
F995L |
probably benign |
Het |
| Polrmt |
A |
G |
10: 79,579,010 (GRCm39) |
|
probably null |
Het |
| Pramel16 |
A |
G |
4: 143,676,273 (GRCm39) |
I277T |
possibly damaging |
Het |
| Pramel28 |
C |
T |
4: 143,691,556 (GRCm39) |
C389Y |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,573,077 (GRCm39) |
T375A |
possibly damaging |
Het |
| Ryr3 |
A |
T |
2: 112,542,774 (GRCm39) |
M3145K |
probably damaging |
Het |
| S100a11 |
A |
G |
3: 93,433,339 (GRCm39) |
K61R |
probably benign |
Het |
| Sar1a |
A |
G |
10: 61,527,073 (GRCm39) |
T164A |
probably benign |
Het |
| Sec31b |
C |
T |
19: 44,532,146 (GRCm39) |
A25T |
probably damaging |
Het |
| Smpd2 |
A |
G |
10: 41,363,350 (GRCm39) |
V371A |
probably benign |
Het |
| Speer1g |
T |
A |
5: 11,181,135 (GRCm39) |
Y141N |
possibly damaging |
Het |
| Spg11 |
A |
T |
2: 121,905,832 (GRCm39) |
L1271* |
probably null |
Het |
| Svep1 |
T |
C |
4: 58,115,862 (GRCm39) |
T944A |
possibly damaging |
Het |
| Taf6 |
A |
T |
5: 138,178,207 (GRCm39) |
C431* |
probably null |
Het |
| Tdrd6 |
A |
G |
17: 43,938,570 (GRCm39) |
V826A |
not run |
Het |
| Tent4a |
G |
T |
13: 69,655,047 (GRCm39) |
P476T |
probably damaging |
Het |
| Tmem132a |
A |
G |
19: 10,836,037 (GRCm39) |
V831A |
probably damaging |
Het |
| Tnfrsf8 |
T |
G |
4: 144,995,685 (GRCm39) |
D458A |
probably damaging |
Het |
| Trpv5 |
A |
G |
6: 41,651,590 (GRCm39) |
I196T |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,608,898 (GRCm39) |
D17706V |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,223,444 (GRCm39) |
Y276C |
probably damaging |
Het |
| Usp24 |
T |
A |
4: 106,236,276 (GRCm39) |
I988K |
probably damaging |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,279 (GRCm39) |
R356* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,869,971 (GRCm39) |
H429Q |
probably damaging |
Het |
| Zscan12 |
T |
A |
13: 21,552,756 (GRCm39) |
N193K |
possibly 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 |
|
|
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'- AGAGTGGAGCATGCTCTAGCTC -3'
(R):5'- CCATTCAGTGACACTGGAAACG -3'
Sequencing Primer
(F):5'- TCCTGCTCCAGCCATGAG -3'
(R):5'- ACACTGGAAACGGGCTGC -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation