Mutagenetix > Incidental Mutation

Incidental Mutation 'R2183:Wwc2'

237295

Institutional Source

Beutler Lab

Gene Symbol

Wwc2

Ensembl Gene

ENSMUSG00000031563

Gene Name

WW, C2 and coiled-coil domain containing 2

Synonyms

D8Ertd594e

MMRRC Submission

040185-MU

Accession Numbers

Essential gene?

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

Stock #

R2183 (G1)

Quality Score

146

Status

Not validated

Chromosome

Chromosomal Location

48279117-48443579 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48295961 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 1103 (L1103H)

Ref Sequence

ENSEMBL: ENSMUSP00000056121 (fasta)

Gene Model

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

AlphaFold

Q6NXJ0

Predicted Effect

unknown
Transcript: ENSMUST00000057561
AA Change: L1103H

SMART Domains

Protein: ENSMUSP00000056121
Gene: ENSMUSG00000031563
AA Change: L1103H

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: 98.7%
10x: 97.4%
20x: 95.3%

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
Atf7	T	C	15: 102,454,908 (GRCm39)	T287A	possibly damaging	Het
Atg9b	C	T	5: 24,595,491 (GRCm39)	A263T	probably benign	Het
Cc2d1a	A	T	8: 84,867,028 (GRCm39)	H371Q	probably damaging	Het
Ccdc39	T	C	3: 33,875,581 (GRCm39)	N537S	possibly damaging	Het
Cdc6	A	T	11: 98,799,524 (GRCm39)	K17*	probably null	Het
Cemip2	G	A	19: 21,801,157 (GRCm39)	R758Q	possibly damaging	Het
Cenpk	T	C	13: 104,370,671 (GRCm39)	M64T	probably damaging	Het
Dhx57	T	A	17: 80,582,760 (GRCm39)	T282S	probably benign	Het
Frem1	G	A	4: 82,909,732 (GRCm39)	T757I	probably benign	Het
Gcsh	A	T	8: 117,715,885 (GRCm39)	V66E	probably damaging	Het
Gdpd1	T	C	11: 86,926,102 (GRCm39)	N281S	probably damaging	Het
Hs1bp3	T	C	12: 8,371,610 (GRCm39)	V97A	possibly damaging	Het
Ipo11	T	C	13: 107,061,595 (GRCm39)	T22A	probably benign	Het
Irag1	A	T	7: 110,498,189 (GRCm39)	L402Q	probably damaging	Het
Lama1	A	G	17: 68,098,004 (GRCm39)	N1795D	probably damaging	Het
Larp4	T	C	15: 99,909,778 (GRCm39)	V627A	probably benign	Het
Lrp8	T	C	4: 107,660,462 (GRCm39)	C41R	probably damaging	Het
Mroh2b	T	A	15: 4,947,707 (GRCm39)		probably null	Het
Nebl	T	C	2: 17,409,027 (GRCm39)	D357G	probably damaging	Het
Nrg2	T	C	18: 36,329,804 (GRCm39)	K137R	probably benign	Het
Or14c43	T	A	7: 86,115,594 (GRCm39)	V325E	probably benign	Het
Or1j14	C	T	2: 36,417,723 (GRCm39)	Q100*	probably null	Het
Or5t7	A	T	2: 86,507,380 (GRCm39)	M99K	probably benign	Het
Phc1	C	A	6: 122,300,284 (GRCm39)	V487L	probably damaging	Het
Piezo2	A	G	18: 63,239,345 (GRCm39)	V745A	probably damaging	Het
Proca1	A	T	11: 78,094,975 (GRCm39)	H83L	possibly damaging	Het
Prpf4	G	A	4: 62,330,046 (GRCm39)	V107I	probably damaging	Het
Ptprz1	G	A	6: 23,002,284 (GRCm39)	R1458Q	probably benign	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rbsn	C	A	6: 92,166,618 (GRCm39)	L675F	probably benign	Het
Recql5	T	C	11: 115,787,613 (GRCm39)	S514G	probably benign	Het
Scai	G	A	2: 38,970,138 (GRCm39)	T542I	probably benign	Het
Sftpa1	G	T	14: 40,854,823 (GRCm39)	D73Y	probably damaging	Het
Sgms2	A	C	3: 131,129,934 (GRCm39)		probably null	Het
Spart	A	G	3: 55,024,554 (GRCm39)	I50V	probably benign	Het
Spata7	A	T	12: 98,603,871 (GRCm39)	K47N	probably damaging	Het
Tbx18	T	A	9: 87,587,789 (GRCm39)	T443S	probably damaging	Het
Tmem130	T	C	5: 144,692,242 (GRCm39)	D54G	possibly damaging	Het
Tnip2	TCTCCT	TCT	5: 34,656,957 (GRCm39)		probably benign	Het
Trp53rkb	G	T	2: 166,635,877 (GRCm39)	V73L	possibly damaging	Het
Yes1	T	A	5: 32,802,370 (GRCm39)	V95E	probably damaging	Het
Zfp971	T	A	2: 177,675,533 (GRCm39)	H377Q	probably damaging	Het
Zzef1	C	T	11: 72,777,544 (GRCm39)	R1792*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- ACTGTTTGTAGCTGGGGCAC -3'
(R):5'- TAACAGGGGTCTCTGTCGTCTC -3'

Sequencing Primer
(F):5'- CTACAGTGGTAGGGTGTAAAAGGAC -3'
(R):5'- TCCCTCTGCAGGCGGTTTG -3'

Posted On

2014-10-02