Mutagenetix > Incidental Mutation

Incidental Mutation 'R4646:Wwc2'

350248

Institutional Source

Beutler Lab

Gene Symbol

Wwc2

Ensembl Gene

ENSMUSG00000031563

Gene Name

WW, C2 and coiled-coil domain containing 2

Synonyms

D8Ertd594e

MMRRC Submission

041907-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R4646 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48279117-48443579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 48373636 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 77 (D77Y)

Ref Sequence

ENSEMBL: ENSMUSP00000056121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000057561]

AlphaFold

Q6NXJ0

Predicted Effect

probably damaging
Transcript: ENSMUST00000057561
AA Change: D77Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: D77Y

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: 99.0%
3x: 98.6%
10x: 97.4%
20x: 95.6%

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: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
Acadl	A	T	1: 66,870,602 (GRCm39)	S428R	probably benign	Het
Adamts10	A	G	17: 33,764,529 (GRCm39)	D683G	probably damaging	Het
Angptl4	G	A	17: 34,000,273 (GRCm39)	P32S	probably benign	Het
Apob	A	G	12: 8,062,759 (GRCm39)	N134S	probably benign	Het
Atr	G	A	9: 95,753,250 (GRCm39)		probably null	Het
B4galnt1	G	A	10: 127,003,705 (GRCm39)	V223M	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
C2cd3	A	C	7: 100,021,657 (GRCm39)		probably benign	Het
Clca4b	A	C	3: 144,634,286 (GRCm39)	H102Q	probably benign	Het
Cntrl	T	C	2: 35,039,473 (GRCm39)	I557T	probably damaging	Het
Col26a1	G	A	5: 136,876,404 (GRCm39)	S72F	probably damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Csmd1	T	C	8: 15,982,511 (GRCm39)	I2719V	possibly damaging	Het
Cul9	C	T	17: 46,849,943 (GRCm39)	W502*	probably null	Het
Dazl	A	T	17: 50,595,183 (GRCm39)	F84I	probably damaging	Het
Dcaf1	G	T	9: 106,724,006 (GRCm39)	R478L	probably benign	Het
Dock5	T	G	14: 68,080,228 (GRCm39)	I198L	probably benign	Het
Dock9	A	T	14: 121,823,658 (GRCm39)	L1428H	probably damaging	Het
Dync1li1	T	A	9: 114,538,237 (GRCm39)	V198E	probably damaging	Het
Egf	A	T	3: 129,513,925 (GRCm39)	C429S	probably damaging	Het
Ehmt1	T	C	2: 24,781,696 (GRCm39)	E7G	probably null	Het
Ercc4	G	T	16: 12,965,438 (GRCm39)	R690L	probably damaging	Het
Erich5	T	C	15: 34,471,112 (GRCm39)	C114R	possibly damaging	Het
Etv1	T	C	12: 38,915,685 (GRCm39)	S428P	possibly damaging	Het
Fbxo31	G	T	8: 122,286,755 (GRCm39)	F174L	probably benign	Het
Fbxo33	T	A	12: 59,251,217 (GRCm39)	I433L	probably benign	Het
Fez2	A	T	17: 78,720,357 (GRCm39)	V99E	probably damaging	Het
Gabarapl2	A	C	8: 112,669,185 (GRCm39)	K48Q	probably damaging	Het
Gfi1b	T	A	2: 28,500,149 (GRCm39)	H294L	probably damaging	Het
Gk2	A	G	5: 97,604,056 (GRCm39)	S261P	probably damaging	Het
Gpr158	T	C	2: 21,831,864 (GRCm39)	I988T	probably benign	Het
Grk3	G	C	5: 113,077,586 (GRCm39)	H394D	probably benign	Het
Grm6	A	G	11: 50,748,033 (GRCm39)	E381G	probably benign	Het
Gtf3c1	A	T	7: 125,258,266 (GRCm39)	M1268K	possibly damaging	Het
Hikeshi	A	T	7: 89,572,854 (GRCm39)	I113N	probably damaging	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Hunk	C	A	16: 90,272,791 (GRCm39)	T365K	probably damaging	Het
Ints15	A	T	5: 143,293,740 (GRCm39)	W246R	probably damaging	Het
Kdm5a	T	G	6: 120,351,938 (GRCm39)	V176G	possibly damaging	Het
Kif2a	T	A	13: 107,098,693 (GRCm39)	E691V	probably damaging	Het
Ly6e	T	C	15: 74,830,510 (GRCm39)		probably null	Het
Map1b	G	T	13: 99,568,977 (GRCm39)	P1248Q	unknown	Het
Mettl25	A	G	10: 105,662,416 (GRCm39)	S185P	probably damaging	Het
Mfap3l	T	A	8: 61,124,184 (GRCm39)	V142D	probably damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mkx	G	A	18: 6,992,040 (GRCm39)	T280I	probably benign	Het
Msi1	A	T	5: 115,589,514 (GRCm39)		probably null	Het
Mtcl2	T	C	2: 156,862,426 (GRCm39)	E1501G	probably damaging	Het
Muc5b	A	G	7: 141,416,377 (GRCm39)	M3108V	probably benign	Het
Mybl1	A	G	1: 9,742,511 (GRCm39)	S625P	probably damaging	Het
Myo7b	C	A	18: 32,127,422 (GRCm39)	V627F	probably benign	Het
Ndst3	A	T	3: 123,465,684 (GRCm39)	I96N	probably damaging	Het
Nrp1	A	T	8: 129,184,425 (GRCm39)	T357S	probably benign	Het
Obscn	G	T	11: 59,015,396 (GRCm39)	Y1050*	probably null	Het
Or2ak7	A	G	11: 58,575,556 (GRCm39)	N286D	probably damaging	Het
Or2d4	A	T	7: 106,543,547 (GRCm39)	N220K	probably benign	Het
Or2y1c	A	C	11: 49,361,451 (GRCm39)	I158L	probably benign	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5d47	A	T	2: 87,804,142 (GRCm39)	I289K	probably benign	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Pick1	A	T	15: 79,133,137 (GRCm39)	D399V	probably benign	Het
Pik3c2g	T	A	6: 139,665,744 (GRCm39)	S22T	probably benign	Het
Pnpla2	A	G	7: 141,038,574 (GRCm39)	E276G	possibly damaging	Het
Pomk	A	T	8: 26,473,633 (GRCm39)	S107T	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rimbp3	A	G	16: 17,030,962 (GRCm39)	D1462G	probably damaging	Het
Rnf112	T	A	11: 61,342,936 (GRCm39)	E230V	probably damaging	Het
Rock1	T	C	18: 10,112,391 (GRCm39)	T455A	probably benign	Het
Rtp4	A	T	16: 23,428,790 (GRCm39)	M18L	probably benign	Het
Scaf11	A	T	15: 96,317,981 (GRCm39)		probably null	Het
Schip1	T	C	3: 67,972,297 (GRCm39)	V8A	probably benign	Het
Sec31b	T	C	19: 44,515,060 (GRCm39)	H351R	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sowahb	T	C	5: 93,190,715 (GRCm39)	D668G	probably damaging	Het
Spam1	A	G	6: 24,800,586 (GRCm39)	T442A	probably benign	Het
Syt14	T	A	1: 192,615,633 (GRCm39)	Y451F	probably damaging	Het
Tafa5	T	G	15: 87,604,783 (GRCm39)	S115A	probably damaging	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Thbs1	G	A	2: 117,948,810 (GRCm39)	A489T	probably benign	Het
Tnfaip1	C	T	11: 78,420,008 (GRCm39)	R88Q	probably damaging	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trim55	T	C	3: 19,725,286 (GRCm39)	F268L	probably benign	Het
Trmt112	T	A	19: 6,887,816 (GRCm39)	V55E	possibly damaging	Het
Tube1	A	G	10: 39,018,363 (GRCm39)	M147V	possibly damaging	Het
Ubn1	A	G	16: 4,895,851 (GRCm39)	T966A	probably damaging	Het
Unc80	A	G	1: 66,708,394 (GRCm39)	I2651V	probably benign	Het
Vmn1r172	G	A	7: 23,359,919 (GRCm39)	R268H	probably benign	Het
Vmn1r231	T	A	17: 21,110,571 (GRCm39)	I115F	probably damaging	Het
Vmn1r237	A	G	17: 21,534,400 (GRCm39)	K41R	probably benign	Het
Vmn2r58	A	T	7: 41,509,935 (GRCm39)	N547K	probably damaging	Het
Vmn2r74	T	C	7: 85,606,782 (GRCm39)	D188G	probably benign	Het
Vwa5b2	A	G	16: 20,415,079 (GRCm39)	K367R	probably damaging	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Wbp11	T	A	6: 136,798,189 (GRCm39)	Y236F	probably benign	Het
Wbp4	T	A	14: 79,709,801 (GRCm39)	I145F	possibly damaging	Het
Zpld2	G	A	4: 133,929,459 (GRCm39)	A282V	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
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
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'- ATGAGTCTAGACCCATCGCC -3'
(R):5'- TCCTGAGGGGCTATTGTAATGC -3'

Sequencing Primer
(F):5'- TAGACCCATCGCCTGCCC -3'
(R):5'- CCAGTATAGATGGTTGTGAGCCACC -3'

Posted On

2015-10-08