Mutagenetix > Incidental Mutations

Incidental Mutation 'R1081:Wwc2'

152701

Institutional Source

Beutler Lab

Gene Symbol

Wwc2

Ensembl Gene

ENSMUSG00000031563

Gene Name

WW, C2 and coiled-coil domain containing 2

Synonyms

D8Ertd594e

MMRRC Submission

039167-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R1081 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

47823959-47990924 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 47828764 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000041676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038693] [ENSMUST00000057561]

Predicted Effect

probably benign
Transcript: ENSMUST00000038693

SMART Domains

Protein: ENSMUSP00000041676
Gene: ENSMUSG00000038064

Domain	Start	End	E-Value	Type
Pfam:PMP22_Claudin	7	183	6.2e-23	PFAM
Pfam:Claudin_2	18	184	1.8e-9	PFAM
low complexity region	185	197	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000057561
AA Change: T1173I

SMART Domains

Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: T1173I

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: 98.2%
10x: 96.0%
20x: 91.8%

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,162,020	E309G	probably benign	Het
Abr	T	C	11: 76,455,615	K448E	probably damaging	Het
Atxn2l	T	C	7: 126,494,212	Y785C	probably damaging	Het
Atxn3	T	G	12: 101,934,349	D225A	probably damaging	Het
BC049730	T	C	7: 24,713,542		probably null	Het
Cdh15	G	C	8: 122,857,495	E112Q	probably damaging	Het
Cntnap5c	A	G	17: 58,305,525	D853G	possibly damaging	Het
Dnah9	A	G	11: 66,084,877	Y1449H	probably damaging	Het
Dsc2	T	G	18: 20,033,295	T760P	probably damaging	Het
Dync2h1	A	T	9: 7,005,488		probably null	Het
Epg5	T	C	18: 77,959,533	F611L	possibly damaging	Het
Fat3	T	C	9: 16,375,284	D981G	possibly damaging	Het
Gimap3	A	T	6: 48,765,152	C281*	probably null	Het
Ids	T	C	X: 70,361,110	D149G	possibly damaging	Het
Inpp4b	A	G	8: 82,069,024	I826V	probably damaging	Het
Kcnrg	C	A	14: 61,607,714	H68N	possibly damaging	Het
Klra6	A	G	6: 130,022,625	Y127H	probably damaging	Het
Mepce	A	G	5: 137,784,696	L456P	probably damaging	Het
Mink1	T	C	11: 70,607,035	L488P	probably benign	Het
Mndal	T	A	1: 173,860,222	E482V	probably benign	Het
Mob1b	G	A	5: 88,753,162	V143I	probably benign	Het
Msh4	T	C	3: 153,872,358	E433G	probably benign	Het
Myof	A	T	19: 37,986,088	I201N	probably damaging	Het
Naip1	G	A	13: 100,423,070	S1142F	probably benign	Het
Ntsr1	G	A	2: 180,538,756	S285N	probably benign	Het
Olfr319	C	T	11: 58,702,498	H266Y	probably damaging	Het
Olfr598	A	G	7: 103,329,038	Y184C	probably damaging	Het
Olfr66	T	A	7: 103,882,177	H22L	possibly damaging	Het
Olfr730	A	G	14: 50,187,197	S7P	probably damaging	Het
P2rx4	A	G	5: 122,727,233	E307G	probably damaging	Het
Pcdh15	A	G	10: 74,450,313	D793G	probably damaging	Het
Rpap1	G	A	2: 119,771,269	R737W	probably damaging	Het
Rpusd4	A	G	9: 35,275,088	K307E	probably benign	Het
Shtn1	T	A	19: 58,975,015	T623S	probably benign	Het
Sntg1	A	G	1: 8,445,119	C397R	possibly damaging	Het
Stat5a	T	C	11: 100,881,060	F646S	probably damaging	Het
Tacc2	A	G	7: 130,728,574	E196G	possibly damaging	Het
Tcf25	T	C	8: 123,381,473	V89A	probably benign	Het
Trim7	G	T	11: 48,849,705	V210L	probably damaging	Het
Vmn2r57	A	G	7: 41,428,211	M177T	possibly damaging	Het
Zfp28	A	G	7: 6,389,780	I152V	possibly damaging	Het
Zfp628	A	G	7: 4,920,183	H468R	probably damaging	Het
Zfp770	A	G	2: 114,197,127	Y154H	probably damaging	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
R1167:Wwc2	UTSW	8	47858779	nonsense	probably null
R1646:Wwc2	UTSW	8	47842902	missense	unknown
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
Z1176:Wwc2	UTSW	8	47868549	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACATGTTACCTGAGTCCAGCCTGC -3'
(R):5'- CGGTCCAGAGAGAAAGAACCTTTGC -3'

Sequencing Primer
(F):5'- TGTACAACACTTGTGGACCAG -3'
(R):5'- ACACCTGGTGATCCGAGTC -3'

Posted On

2014-01-29