Incidental Mutation 'R6467:Wwc2'
| ID |
516649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Wwc2
|
| Ensembl Gene |
ENSMUSG00000031563 |
| Gene Name |
WW, C2 and coiled-coil domain containing 2 |
| Synonyms |
D8Ertd594e |
| MMRRC Submission |
044600-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
R6467 (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 C
at 48304943 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 894
(D894G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057561]
|
| AlphaFold |
Q6NXJ0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000057561
AA Change: D894G
|
| SMART Domains |
Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: D894G
| 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 |
|
| Meta Mutation Damage Score |
0.0758 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.5%
|
| Validation Efficiency |
99% (72/73) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acvr1b |
T |
C |
15: 101,092,722 (GRCm39) |
W122R |
possibly damaging |
Het |
| Adgrv1 |
C |
T |
13: 81,592,657 (GRCm39) |
R4294H |
probably benign |
Het |
| Afdn |
A |
G |
17: 14,024,315 (GRCm39) |
T74A |
probably damaging |
Het |
| Aff3 |
T |
A |
1: 38,247,098 (GRCm39) |
D829V |
probably benign |
Het |
| Akr1c12 |
T |
C |
13: 4,325,772 (GRCm39) |
Q107R |
probably benign |
Het |
| Apc |
T |
A |
18: 34,402,252 (GRCm39) |
F131I |
probably benign |
Het |
| Atosb |
A |
T |
4: 43,033,687 (GRCm39) |
F489I |
probably damaging |
Het |
| Atp13a1 |
T |
A |
8: 70,259,424 (GRCm39) |
L1036H |
probably damaging |
Het |
| BC035044 |
A |
C |
6: 128,867,855 (GRCm39) |
|
probably benign |
Het |
| C1rl |
A |
G |
6: 124,485,535 (GRCm39) |
D302G |
probably benign |
Het |
| C2cd6 |
A |
C |
1: 59,117,093 (GRCm39) |
D133E |
probably benign |
Het |
| Cacna1c |
T |
A |
6: 118,629,671 (GRCm39) |
Y1061F |
probably damaging |
Het |
| Cav1 |
A |
G |
6: 17,308,034 (GRCm39) |
D62G |
probably damaging |
Het |
| Ccdc77 |
T |
C |
6: 120,327,242 (GRCm39) |
M68V |
probably damaging |
Het |
| Cd55 |
A |
T |
1: 130,375,348 (GRCm39) |
|
probably benign |
Het |
| Cdc27 |
C |
A |
11: 104,413,602 (GRCm39) |
A380S |
probably damaging |
Het |
| Cenpb |
A |
T |
2: 131,021,477 (GRCm39) |
I107K |
probably damaging |
Het |
| Cep135 |
T |
G |
5: 76,769,187 (GRCm39) |
H612Q |
possibly damaging |
Het |
| Chd1l |
A |
T |
3: 97,470,849 (GRCm39) |
N815K |
probably damaging |
Het |
| Cldn20 |
C |
T |
17: 3,582,992 (GRCm39) |
T55M |
possibly damaging |
Het |
| Depdc1a |
A |
T |
3: 159,221,679 (GRCm39) |
I208L |
probably benign |
Het |
| Dgkb |
C |
T |
12: 38,134,223 (GRCm39) |
A43V |
possibly damaging |
Het |
| Dgkb |
C |
T |
12: 38,654,104 (GRCm39) |
T741I |
probably damaging |
Het |
| Dhx16 |
A |
G |
17: 36,197,076 (GRCm39) |
N653S |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,438,329 (GRCm39) |
S3987T |
probably benign |
Het |
| Dnai4 |
T |
C |
4: 102,906,758 (GRCm39) |
D685G |
probably damaging |
Het |
| Dst |
T |
A |
1: 34,334,277 (GRCm39) |
I4835N |
probably damaging |
Het |
| Esrrb |
A |
G |
12: 86,561,114 (GRCm39) |
I288V |
probably damaging |
Het |
| Fnta |
C |
T |
8: 26,497,341 (GRCm39) |
W169* |
probably null |
Het |
| Golga4 |
T |
C |
9: 118,365,860 (GRCm39) |
L304P |
probably damaging |
Het |
| Hace1 |
A |
G |
10: 45,466,362 (GRCm39) |
|
probably null |
Het |
| Ino80b |
G |
T |
6: 83,101,112 (GRCm39) |
|
probably null |
Het |
| Kcmf1 |
G |
A |
6: 72,820,082 (GRCm39) |
R306C |
probably damaging |
Het |
| Lrrc46 |
G |
A |
11: 96,927,305 (GRCm39) |
T92I |
possibly damaging |
Het |
| Man2b1 |
T |
C |
8: 85,824,076 (GRCm39) |
V991A |
possibly damaging |
Het |
| Mga |
A |
G |
2: 119,776,776 (GRCm39) |
N1770S |
probably damaging |
Het |
| Mgat4e |
T |
C |
1: 134,468,944 (GRCm39) |
T367A |
probably benign |
Het |
| Mtr |
A |
G |
13: 12,202,992 (GRCm39) |
S1204P |
probably damaging |
Het |
| Myo15a |
G |
A |
11: 60,417,487 (GRCm39) |
|
probably null |
Het |
| Nktr |
T |
C |
9: 121,560,585 (GRCm39) |
S74P |
probably damaging |
Het |
| Noct |
T |
C |
3: 51,157,508 (GRCm39) |
V282A |
possibly damaging |
Het |
| Nol11 |
A |
T |
11: 107,071,912 (GRCm39) |
I227K |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,130,646 (GRCm39) |
S4T |
probably damaging |
Het |
| Or5m10b |
T |
A |
2: 85,699,714 (GRCm39) |
Y259* |
probably null |
Het |
| Or5p64 |
A |
G |
7: 107,855,109 (GRCm39) |
S79P |
probably damaging |
Het |
| Pds5a |
T |
A |
5: 65,809,782 (GRCm39) |
L393F |
probably damaging |
Het |
| Prex2 |
C |
T |
1: 11,336,259 (GRCm39) |
R1486C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,272,028 (GRCm39) |
T768A |
probably damaging |
Het |
| Rin3 |
A |
T |
12: 102,335,584 (GRCm39) |
E418D |
probably benign |
Het |
| Rnf214 |
G |
T |
9: 45,778,886 (GRCm39) |
T586N |
probably damaging |
Het |
| Samd4b |
A |
G |
7: 28,101,285 (GRCm39) |
S667P |
probably damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,061,161 (GRCm39) |
Y100C |
probably damaging |
Het |
| Slc46a2 |
T |
C |
4: 59,914,077 (GRCm39) |
E282G |
probably benign |
Het |
| Themis |
A |
C |
10: 28,657,762 (GRCm39) |
N110T |
possibly damaging |
Het |
| Tln1 |
C |
A |
4: 43,543,165 (GRCm39) |
S1333I |
probably benign |
Het |
| Tmem53 |
T |
C |
4: 117,125,625 (GRCm39) |
V224A |
possibly damaging |
Het |
| Tmtc4 |
T |
A |
14: 123,163,391 (GRCm39) |
K664N |
possibly damaging |
Het |
| Tnni3k |
T |
C |
3: 154,674,922 (GRCm39) |
D201G |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,912,898 (GRCm39) |
E1681G |
probably damaging |
Het |
| Trhde |
A |
T |
10: 114,340,103 (GRCm39) |
D567E |
probably damaging |
Het |
| Tsc2 |
T |
C |
17: 24,828,101 (GRCm39) |
M788V |
probably benign |
Het |
| Ube3a |
A |
G |
7: 58,926,650 (GRCm39) |
Y476C |
probably damaging |
Het |
| Ubiad1 |
T |
C |
4: 148,520,682 (GRCm39) |
N314S |
possibly damaging |
Het |
| Unc79 |
T |
A |
12: 103,139,771 (GRCm39) |
N2375K |
probably damaging |
Het |
| Vmn2r107 |
A |
T |
17: 20,595,939 (GRCm39) |
I831F |
probably damaging |
Het |
| Vwa3b |
T |
A |
1: 37,124,367 (GRCm39) |
C322S |
probably benign |
Het |
| Wnk1 |
A |
T |
6: 119,939,916 (GRCm39) |
H238Q |
probably benign |
Het |
| Wnk2 |
A |
G |
13: 49,300,081 (GRCm39) |
Y210H |
probably damaging |
Het |
| Yes1 |
T |
A |
5: 32,810,381 (GRCm39) |
F180Y |
probably damaging |
Het |
| Yju2b |
T |
C |
8: 84,985,318 (GRCm39) |
E317G |
probably benign |
Het |
| Zbtb46 |
T |
C |
2: 181,033,062 (GRCm39) |
Y533C |
probably damaging |
Het |
| Zfp57 |
T |
C |
17: 37,316,942 (GRCm39) |
S7P |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,802,090 (GRCm39) |
|
probably null |
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 |
|
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'- GGCTGACCCTGCCAGTTTC -3'
(R):5'- CCATCTGTTGAGCCTGCGG -3'
Sequencing Primer
(F):5'- GACCCTGCCAGTTTCTCCCTTC -3'
(R):5'- CCTCATGGCTAGGTTGACAAATGC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation