Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01867:Wwc2'

178575

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Wwc2

Ensembl Gene

ENSMUSG00000031563

Gene Name

WW, C2 and coiled-coil domain containing 2

Synonyms

D8Ertd594e

Accession Numbers

Essential gene?

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

Stock #

IGL01867

Quality Score

Status

Chromosome

Chromosomal Location

48279117-48443579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 48336615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Histidine at position 216 (N216H)

Ref Sequence

ENSEMBL: ENSMUSP00000056121 (fasta)

Gene Model

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

AlphaFold

Q6NXJ0

Predicted Effect

probably benign
Transcript: ENSMUST00000057561
AA Change: N216H

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: N216H

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

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,635,364 (GRCm39)	E213G	probably benign	Het
Akap6	T	C	12: 52,934,791 (GRCm39)	L761P	probably damaging	Het
Bbs7	A	C	3: 36,627,696 (GRCm39)	L697R	probably benign	Het
Cd74	G	A	18: 60,941,352 (GRCm39)	R99H	probably benign	Het
Cpne6	A	G	14: 55,751,137 (GRCm39)	N182S	probably benign	Het
Cyp4f17	A	G	17: 32,747,057 (GRCm39)	H429R	probably benign	Het
Dact2	A	T	17: 14,415,932 (GRCm39)	M756K	probably damaging	Het
Ets1	A	G	9: 32,645,455 (GRCm39)	D234G	probably damaging	Het
Fat3	A	C	9: 16,289,197 (GRCm39)	S109A	probably benign	Het
Fras1	G	T	5: 96,735,990 (GRCm39)	M528I	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gtf3c1	A	G	7: 125,261,548 (GRCm39)	F1189L	probably benign	Het
Ift81	A	T	5: 122,740,739 (GRCm39)		probably benign	Het
Insyn2b	A	G	11: 34,353,065 (GRCm39)	E369G	probably benign	Het
Lag3	A	G	6: 124,887,869 (GRCm39)	S22P	probably benign	Het
Mos	G	T	4: 3,870,845 (GRCm39)	Q324K	probably benign	Het
Mtx2	T	A	2: 74,706,733 (GRCm39)	V236E	probably damaging	Het
Naip6	T	C	13: 100,436,820 (GRCm39)	T568A	probably benign	Het
Or5k8	A	G	16: 58,644,337 (GRCm39)	F245S	probably damaging	Het
Or6c35	T	A	10: 129,169,232 (GRCm39)	L161M	probably damaging	Het
Or6c68	T	C	10: 129,157,585 (GRCm39)	I31T	probably benign	Het
Or6c88	G	A	10: 129,406,696 (GRCm39)	M57I	possibly damaging	Het
Or8b53	A	C	9: 38,667,194 (GRCm39)	D70A	probably damaging	Het
Pcid2	A	G	8: 13,128,243 (GRCm39)	V386A	probably benign	Het
Pde8b	T	C	13: 95,237,446 (GRCm39)	D116G	probably damaging	Het
Plxnc1	A	G	10: 94,634,008 (GRCm39)	V1365A	possibly damaging	Het
Prex2	G	T	1: 11,168,727 (GRCm39)	C241F	probably benign	Het
Prr23a2	A	G	9: 98,739,113 (GRCm39)	E157G	probably benign	Het
Ptpn4	A	T	1: 119,603,329 (GRCm39)	H836Q	probably benign	Het
Ptprd	C	T	4: 76,161,884 (GRCm39)	R117H	probably damaging	Het
Rab11fip4	T	C	11: 79,574,216 (GRCm39)	S102P	probably benign	Het
Slc44a1	G	T	4: 53,536,405 (GRCm39)	V194F	probably damaging	Het
Synm	T	A	7: 67,383,222 (GRCm39)	H1480L	probably benign	Het
Tmem63a	A	G	1: 180,783,570 (GRCm39)	Y175C	possibly damaging	Het
Trmt61a	C	T	12: 111,645,150 (GRCm39)	R29C	probably benign	Het
Ubap1	C	T	4: 41,379,236 (GRCm39)	T150I	probably benign	Het
Uimc1	T	C	13: 55,223,214 (GRCm39)	M353V	probably benign	Het
Usp34	T	C	11: 23,334,411 (GRCm39)	M1135T	possibly damaging	Het
Vmn1r25	A	C	6: 57,956,196 (GRCm39)	L31R	probably damaging	Het
Wtap	T	C	17: 13,188,342 (GRCm39)	E186G	probably benign	Het
Zhx1	A	T	15: 57,917,841 (GRCm39)	M135K	probably 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
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
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

Posted On

2014-05-07