Mutagenetix > Incidental Mutation

Incidental Mutation 'R5317:Wwc2'

405873

Institutional Source

Beutler Lab

Gene Symbol

Wwc2

Ensembl Gene

ENSMUSG00000031563

Gene Name

WW, C2 and coiled-coil domain containing 2

Synonyms

D8Ertd594e

MMRRC Submission

042900-MU

Accession Numbers

Essential gene?

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

Stock #

R5317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48279117-48443579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 48300590 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 958 (D958N)

Ref Sequence

ENSEMBL: ENSMUSP00000056121 (fasta)

Gene Model

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

AlphaFold

Q6NXJ0

Predicted Effect

unknown
Transcript: ENSMUST00000057561
AA Change: D958N

SMART Domains

Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: D958N

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: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arih1	A	C	9: 59,300,619 (GRCm39)	H542Q	probably benign	Het
Ccn4	T	G	15: 66,789,131 (GRCm39)	S206A	probably benign	Het
Cnot8	T	C	11: 58,004,029 (GRCm39)	S155P	probably damaging	Het
Dcc	C	T	18: 71,517,226 (GRCm39)	E810K	possibly damaging	Het
Dmrt2	T	C	19: 25,650,844 (GRCm39)	V10A	probably benign	Het
Dnah17	G	A	11: 118,018,109 (GRCm39)	R129W	possibly damaging	Het
Eif4a3	G	T	11: 119,185,490 (GRCm39)	H117N	probably damaging	Het
Fhip2a	T	A	19: 57,370,141 (GRCm39)		probably null	Het
Gpr179	T	A	11: 97,228,671 (GRCm39)	Q1161H	probably damaging	Het
Grm1	T	G	10: 10,622,443 (GRCm39)	M427L	possibly damaging	Het
Grxcr2	T	A	18: 42,131,916 (GRCm39)	H51L	probably damaging	Het
Il1rn	C	T	2: 24,239,554 (GRCm39)	T150I	probably benign	Het
Kcnc4	C	T	3: 107,366,055 (GRCm39)	R51H	probably damaging	Het
Kcnh3	T	C	15: 99,125,822 (GRCm39)	S160P	probably benign	Het
Lrrc37	T	C	11: 103,504,971 (GRCm39)	I2332M	possibly damaging	Het
Mcm9	G	A	10: 53,414,330 (GRCm39)	P250L	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pan3	T	C	5: 147,480,020 (GRCm39)		probably null	Het
Pcdhgb7	T	A	18: 37,885,887 (GRCm39)	D352E	probably benign	Het
Pdgfa	A	G	5: 138,974,102 (GRCm39)		probably null	Het
Pkhd1	T	C	1: 20,520,528 (GRCm39)	D1938G	probably damaging	Het
Plac8	C	T	5: 100,704,345 (GRCm39)		probably null	Het
Rab11fip3	T	C	17: 26,287,052 (GRCm39)	E367G	possibly damaging	Het
Sgo2a	C	T	1: 58,054,683 (GRCm39)	P289L	probably benign	Het
Slc22a18	T	C	7: 143,052,896 (GRCm39)	Y374H	probably damaging	Het
Slco2a1	T	C	9: 102,956,778 (GRCm39)	V530A	probably benign	Het
Spty2d1	A	T	7: 46,648,049 (GRCm39)	S293R	possibly damaging	Het
Stt3b	G	T	9: 115,081,578 (GRCm39)	Y569*	probably null	Het
Tas2r140	A	G	6: 133,032,543 (GRCm39)	Y72H	probably benign	Het
Usp35	C	T	7: 96,960,846 (GRCm39)	R860H	probably damaging	Het
Vmn2r130	T	A	17: 23,282,557 (GRCm39)	M79K	probably benign	Het
Vsig10l	T	C	7: 43,114,247 (GRCm39)	S190P	probably damaging	Het
Zfp318	AAGAAGG	A	17: 46,723,463 (GRCm39)		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
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
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'- TCTACTCAGTGAGCTCTGCAGG -3'
(R):5'- GTAGAAAGCCACTTCCCCTC -3'

Sequencing Primer
(F):5'- GGCACAGTCTCTGCTCTCAG -3'
(R):5'- GTAGAAAGCCACTTCCCCTCTCTAC -3'

Posted On

2016-07-22