Mutagenetix > Incidental Mutation

Incidental Mutation 'R1646:Wwc2'

173885

Institutional Source

Beutler Lab

Gene Symbol

Wwc2

Ensembl Gene

ENSMUSG00000031563

Gene Name

WW, C2 and coiled-coil domain containing 2

Synonyms

D8Ertd594e

MMRRC Submission

039682-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R1646 (G1)

Quality Score

100

Status

Validated

Chromosome

Chromosomal Location

47823959-47990924 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 47842902 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1111 (E1111G)

Ref Sequence

ENSEMBL: ENSMUSP00000056121 (fasta)

Gene Model

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

AlphaFold

Q6NXJ0

Predicted Effect

unknown
Transcript: ENSMUST00000057561
AA Change: E1111G

SMART Domains

Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: E1111G

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

0.1107

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.8%

Validation Efficiency

96% (69/72)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	T	3: 108,462,990	S751T	probably damaging	Het
Akna	T	G	4: 63,383,892	I581L	probably benign	Het
Cacnb4	A	G	2: 52,474,900	I117T	possibly damaging	Het
Capn1	A	T	19: 5,997,730	F434L	probably benign	Het
Cbs	T	C	17: 31,613,195	T547A	probably benign	Het
Col6a5	A	T	9: 105,862,749	L2557*	probably null	Het
D17Wsu92e	A	G	17: 27,793,960	S88P	probably damaging	Het
D1Ertd622e	A	T	1: 97,645,806	I178N	probably damaging	Het
Dach1	A	G	14: 98,169,114	S66P	unknown	Het
Ddx31	T	C	2: 28,892,520	V625A	probably benign	Het
Dmxl1	T	G	18: 49,962,261	V2969G	probably damaging	Het
Eapp	T	A	12: 54,685,960	K122*	probably null	Het
Epb41l5	G	T	1: 119,550,022		probably benign	Het
Fat1	T	C	8: 45,018,042	S1628P	probably damaging	Het
Fgfr2	T	A	7: 130,242,644	E37V	probably damaging	Het
Fgfr4	A	T	13: 55,165,964	N529Y	probably damaging	Het
Fsip2	A	T	2: 82,978,517	T1727S	probably benign	Het
Gak	A	T	5: 108,602,854	S397T	probably damaging	Het
Gm6040	T	A	8: 20,917,097	I36F	possibly damaging	Het
Grhl1	A	G	12: 24,611,861	D513G	possibly damaging	Het
Gstt1	T	A	10: 75,784,106	D219V	possibly damaging	Het
Hcfc2	T	G	10: 82,701,027	V91G	probably damaging	Het
Hells	A	T	19: 38,967,783	I808L	probably benign	Het
Icmt	T	A	4: 152,299,715	V110E	possibly damaging	Het
Iqca	C	T	1: 90,140,038	V164M	probably damaging	Het
Klri1	G	A	6: 129,703,336	P119S	probably benign	Het
Krt71	C	A	15: 101,738,764		probably null	Het
Lpin1	A	G	12: 16,573,658		probably null	Het
Metap2	T	C	10: 93,870,197	H241R	probably damaging	Het
Myh15	A	G	16: 49,195,568	Y1869C	probably damaging	Het
Myo1h	G	A	5: 114,317,632	G59E	possibly damaging	Het
Ncam2	T	G	16: 81,465,706		probably benign	Het
Npat	T	C	9: 53,555,134	V241A	probably benign	Het
Npbwr1	C	A	1: 5,917,254	V14L	probably benign	Het
Nup37	T	A	10: 88,178,234	V323E	possibly damaging	Het
Olfr1036	A	G	2: 86,075,616	N292S	probably damaging	Het
Olfr1351	C	A	10: 79,017,506	Y61*	probably null	Het
Olfr483	C	T	7: 108,103,591	T94I	probably benign	Het
Olfr743	A	T	14: 50,533,583	Q57L	probably benign	Het
Pdlim4	A	T	11: 54,056,254	L132Q	possibly damaging	Het
Ptcd3	T	C	6: 71,898,395	D201G	probably benign	Het
Ptk7	A	T	17: 46,586,297	F370I	probably benign	Het
Pus7l	T	C	15: 94,533,636	N371D	probably benign	Het
Pzp	G	A	6: 128,503,555	A589V	probably benign	Het
Rasef	T	A	4: 73,734,549	R572W	probably damaging	Het
Reep5	T	C	18: 34,349,659	T166A	probably benign	Het
Rhov	A	G	2: 119,271,020	V35A	probably damaging	Het
Ripk4	C	T	16: 97,743,897	G517R	probably damaging	Het
Rnasel	A	G	1: 153,755,054	T439A	probably damaging	Het
Slamf9	A	G	1: 172,477,340	T174A	probably benign	Het
Slc12a9	A	G	5: 137,323,149	L414P	probably damaging	Het
Slf1	G	A	13: 77,066,648	R640*	probably null	Het
Slfn8	G	T	11: 83,016,886	P277Q	probably damaging	Het
Stpg2	T	A	3: 139,419,702		probably benign	Het
Tm9sf3	A	C	19: 41,223,179	N408K	possibly damaging	Het
Trio	A	G	15: 27,758,347	V2049A	possibly damaging	Het
Ttn	A	T	2: 76,814,733	I11180N	probably damaging	Het
Ush2a	T	C	1: 188,415,821	C982R	probably damaging	Het
Usp36	C	T	11: 118,273,566	V207M	probably damaging	Het
Uvrag	T	C	7: 99,118,224	T67A	probably damaging	Het
Vasp	G	A	7: 19,260,978		probably benign	Het
Vmn2r115	T	C	17: 23,359,539	F662S	probably damaging	Het
Vmn2r54	A	T	7: 12,632,507	C167S	probably damaging	Het
Vmn2r71	C	A	7: 85,621,268	N547K	probably damaging	Het
Wasf2	A	G	4: 133,176,591	I37V	probably benign	Het
Zfp317	A	G	9: 19,647,312	Y274C	probably damaging	Het
Zhx3	T	C	2: 160,781,275	Y324C	probably damaging	Het
Zzef1	T	C	11: 72,864,036		probably null	Het

Other mutations in Wwc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00969:Wwc2	APN	8	47846158	missense	unknown
IGL01397:Wwc2	APN	8	47868276	missense	unknown
IGL01522:Wwc2	APN	8	47868633	missense	unknown
IGL01530:Wwc2	APN	8	47863939	missense	unknown
IGL01867:Wwc2	APN	8	47883580	missense	probably benign	0.02
IGL01991:Wwc2	APN	8	47869866	nonsense	probably null
IGL02092:Wwc2	APN	8	47864535	missense	unknown
IGL02320:Wwc2	APN	8	47863847	splice site	probably null
IGL02503:Wwc2	APN	8	47849383	missense	unknown
H8562:Wwc2	UTSW	8	47920666	missense	possibly damaging	0.77
R0244:Wwc2	UTSW	8	47900721	missense	probably benign	0.16
R0331:Wwc2	UTSW	8	47880204	missense	probably benign	0.15
R0349:Wwc2	UTSW	8	47868666	missense	unknown
R0542:Wwc2	UTSW	8	47868379	missense	unknown
R0645:Wwc2	UTSW	8	47900639	splice site	probably benign
R1081:Wwc2	UTSW	8	47828764	unclassified	probably benign
R1167:Wwc2	UTSW	8	47858779	nonsense	probably null
R1860:Wwc2	UTSW	8	47990102	missense	possibly damaging	0.90
R2070:Wwc2	UTSW	8	47868321	missense	unknown
R2183:Wwc2	UTSW	8	47842926	missense	unknown
R3969:Wwc2	UTSW	8	47856323	missense	unknown
R4096:Wwc2	UTSW	8	47842902	missense	unknown
R4387:Wwc2	UTSW	8	47831646	missense	unknown
R4447:Wwc2	UTSW	8	47868667	missense	unknown
R4448:Wwc2	UTSW	8	47868667	missense	unknown
R4450:Wwc2	UTSW	8	47868667	missense	unknown
R4646:Wwc2	UTSW	8	47920601	missense	probably damaging	1.00
R4869:Wwc2	UTSW	8	47920678	missense	probably damaging	0.99
R5159:Wwc2	UTSW	8	47900761	missense	probably benign	0.03
R5317:Wwc2	UTSW	8	47847555	missense	unknown
R5391:Wwc2	UTSW	8	47863871	missense	unknown
R5728:Wwc2	UTSW	8	47864061	missense	unknown
R5871:Wwc2	UTSW	8	47868423	missense	unknown
R5943:Wwc2	UTSW	8	47990102	missense	possibly damaging	0.90
R6137:Wwc2	UTSW	8	47856263	missense	unknown
R6169:Wwc2	UTSW	8	47858843	missense	unknown
R6363:Wwc2	UTSW	8	47887162	splice site	probably null
R6421:Wwc2	UTSW	8	47900746	missense	probably damaging	1.00
R6467:Wwc2	UTSW	8	47851908	missense	unknown
R6712:Wwc2	UTSW	8	47900803	missense	probably benign	0.42
R6765:Wwc2	UTSW	8	47900791	missense	possibly damaging	0.85
R6766:Wwc2	UTSW	8	47900791	missense	possibly damaging	0.85
R6767:Wwc2	UTSW	8	47900791	missense	possibly damaging	0.85
R6768:Wwc2	UTSW	8	47900791	missense	possibly damaging	0.85
R6782:Wwc2	UTSW	8	47900791	missense	possibly damaging	0.85
R6993:Wwc2	UTSW	8	47847465	missense	unknown
R7016:Wwc2	UTSW	8	47847548	missense	unknown
R7079:Wwc2	UTSW	8	47847545	missense	unknown
R7219:Wwc2	UTSW	8	47858884	missense	unknown
R7258:Wwc2	UTSW	8	47842999	missense	unknown
R7334:Wwc2	UTSW	8	47869794	missense	unknown
R7375:Wwc2	UTSW	8	47863920	missense	unknown
R7451:Wwc2	UTSW	8	47864575	missense	not run
R7505:Wwc2	UTSW	8	47880150	missense	probably damaging	0.96
R7825:Wwc2	UTSW	8	47990162	missense	probably damaging	1.00
R7854:Wwc2	UTSW	8	47868477	missense	unknown
R7904:Wwc2	UTSW	8	47856235	missense	unknown
R8811:Wwc2	UTSW	8	47883544	missense	possibly damaging	0.48
R8985:Wwc2	UTSW	8	47878884	missense	probably benign	0.09
R9004:Wwc2	UTSW	8	47920697	missense	probably damaging	0.99
R9133:Wwc2	UTSW	8	47851972	missense	unknown
R9339:Wwc2	UTSW	8	47900824	missense	probably damaging	1.00
R9598:Wwc2	UTSW	8	47875325	missense	probably damaging	0.98
R9633:Wwc2	UTSW	8	47851924	frame shift	probably null
R9634:Wwc2	UTSW	8	47851924	frame shift	probably null
R9691:Wwc2	UTSW	8	47828764	unclassified	probably benign
R9799:Wwc2	UTSW	8	47868560	missense	unknown
Z1176:Wwc2	UTSW	8	47868549	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTAAGCACAAGGCACTACTGGC -3'
(R):5'- TCCTATCATGTGCAGGAAGGGCAG -3'

Sequencing Primer
(F):5'- GGCACTACTGGCCGAAAC -3'
(R):5'- AGGACTGCTCAGGAATGCC -3'

Posted On

2014-04-24