Mutagenetix > Incidental Mutation

Incidental Mutation 'R2264:Wbp2'

244011

Institutional Source

Beutler Lab

Gene Symbol

Wbp2

Ensembl Gene

ENSMUSG00000034341

Gene Name

WW domain binding protein 2

Synonyms

MMRRC Submission

040264-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2264 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

115969399-115977821 bp(-) (GRCm39)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 115970424 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000102052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074628] [ENSMUST00000074628] [ENSMUST00000075036] [ENSMUST00000106444] [ENSMUST00000106444] [ENSMUST00000106450] [ENSMUST00000106451] [ENSMUST00000153408] [ENSMUST00000156545] [ENSMUST00000174822] [ENSMUST00000173345]

AlphaFold

P97765

Predicted Effect

probably null
Transcript: ENSMUST00000074628

SMART Domains

Protein: ENSMUSP00000074204
Gene: ENSMUSG00000034341

Domain	Start	End	E-Value	Type
Pfam:GRAM	1	84	1.2e-19	PFAM
Pfam:WWbp	100	204	1.3e-20	PFAM
low complexity region	247	255	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000074628

SMART Domains

Protein: ENSMUSP00000074204
Gene: ENSMUSG00000034341

Domain	Start	End	E-Value	Type
Pfam:GRAM	1	84	1.2e-19	PFAM
Pfam:WWbp	100	204	1.3e-20	PFAM
low complexity region	247	255	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000075036

SMART Domains

Protein: ENSMUSP00000074549
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	585	735	8e-6	PDB
low complexity region	738	751	N/A	INTRINSIC
Pfam:Membr_traf_MHD	785	892	1.9e-25	PFAM
C2	923	1031	7.93e-10	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000106444

SMART Domains

Protein: ENSMUSP00000102052
Gene: ENSMUSG00000034341

Domain	Start	End	E-Value	Type
Pfam:GRAM	1	84	2.3e-19	PFAM
Pfam:WWbp	100	212	5.3e-20	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000106444

SMART Domains

Protein: ENSMUSP00000102052
Gene: ENSMUSG00000034341

Domain	Start	End	E-Value	Type
Pfam:GRAM	1	84	2.3e-19	PFAM
Pfam:WWbp	100	212	5.3e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106450

SMART Domains

Protein: ENSMUSP00000102058
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	587	737	8e-6	PDB
low complexity region	740	753	N/A	INTRINSIC
Pfam:Membr_traf_MHD	787	894	1.9e-25	PFAM
C2	925	1033	7.93e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106451

SMART Domains

Protein: ENSMUSP00000102059
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	587	737	8e-6	PDB
low complexity region	740	753	N/A	INTRINSIC
Pfam:Membr_traf_MHD	788	838	7.1e-10	PFAM
Pfam:Membr_traf_MHD	830	893	1.4e-15	PFAM
C2	925	1033	7.93e-10	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145278

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146339

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155120

Predicted Effect

probably benign
Transcript: ENSMUST00000153408

SMART Domains

Protein: ENSMUSP00000115327
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	5	16	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156545

SMART Domains

Protein: ENSMUSP00000118266
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174822

SMART Domains

Protein: ENSMUSP00000134260
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	585	735	8e-6	PDB
low complexity region	738	751	N/A	INTRINSIC
Pfam:Membr_traf_MHD	785	892	1.9e-25	PFAM
C2	923	1031	7.93e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173345

SMART Domains

Protein: ENSMUSP00000133679
Gene: ENSMUSG00000057948

Domain	Start	End	E-Value	Type
low complexity region	21	26	N/A	INTRINSIC
C2	111	261	5.31e-11	SMART
PDB:3SWH\|B	587	737	5e-6	PDB
low complexity region	740	753	N/A	INTRINSIC

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

94% (65/69)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The globular WW domain is composed of 38 to 40 semiconserved amino acids shared by proteins of diverse functions including structural, regulatory, and signaling proteins. The domain is involved in mediating protein-protein interactions through the binding of polyproline ligands. This gene encodes a WW domain binding protein that is a transcriptional coactivator of estrogen receptor alpha and progesterone receptor. Defects in this gene have been associated with hearing impairment. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a null allele show progressive high-frequency hearing loss, raised auditory brainstem response (ABR) thresholds, reduced ABR amplitudes, swelling of afferent terminals, inner hair cell synapse defects, and altered expression of AMPA receptor subunits and post-synaptic proteins. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	A	G	11: 119,901,100 (GRCm39)	S1042P	probably damaging	Het
Armc1	C	T	3: 19,189,033 (GRCm39)	V211I	probably damaging	Het
B4galnt3	T	C	6: 120,180,771 (GRCm39)	*986W	probably null	Het
BC024139	T	A	15: 76,010,117 (GRCm39)	D105V	probably damaging	Het
BC049715	C	T	6: 136,817,434 (GRCm39)	Q225*	probably null	Het
Cadps2	T	C	6: 23,323,339 (GRCm39)	H1043R	probably benign	Het
Ccdc42	T	C	11: 68,478,477 (GRCm39)	V33A	probably benign	Het
Cldn1	A	G	16: 26,177,949 (GRCm39)	Y159H	probably damaging	Het
Cog6	A	T	3: 52,900,332 (GRCm39)	C476*	probably null	Het
Col14a1	T	G	15: 55,330,086 (GRCm39)		probably null	Het
Crisp1	C	T	17: 40,623,965 (GRCm39)	M1I	probably null	Het
Dip2b	T	A	15: 100,101,097 (GRCm39)	S1297T	probably benign	Het
Dlgap4	A	G	2: 156,543,383 (GRCm39)	E262G	probably benign	Het
Dnai7	A	G	6: 145,154,155 (GRCm39)		probably benign	Het
Dpp4	A	C	2: 62,208,583 (GRCm39)	V187G	possibly damaging	Het
F5	A	G	1: 164,021,971 (GRCm39)	D1482G	probably benign	Het
Fads6	T	A	11: 115,177,061 (GRCm39)	T132S	probably damaging	Het
Fat4	A	G	3: 38,944,571 (GRCm39)	I1155V	probably benign	Het
Fermt1	C	T	2: 132,757,110 (GRCm39)		probably null	Het
Fstl1	C	T	16: 37,597,653 (GRCm39)		probably benign	Het
Get3	G	A	8: 85,751,887 (GRCm39)		probably benign	Het
Gm5089	T	C	14: 122,673,514 (GRCm39)	Y69C	unknown	Het
Gm9871	T	C	6: 101,773,201 (GRCm39)		noncoding transcript	Het
Gpr89	A	G	3: 96,779,831 (GRCm39)	S375P	probably damaging	Het
Gtf2h4	A	G	17: 35,979,556 (GRCm39)		probably benign	Het
Gtsf1	T	A	15: 103,328,391 (GRCm39)	N148I	possibly damaging	Het
Hexa	T	C	9: 59,462,660 (GRCm39)	S129P	probably damaging	Het
Iigp1	A	T	18: 60,523,738 (GRCm39)	E285D	probably benign	Het
Il23r	T	A	6: 67,403,651 (GRCm39)		probably null	Het
Iqch	T	C	9: 63,419,581 (GRCm39)	K463R	probably benign	Het
Kcnd1	A	G	X: 7,690,323 (GRCm39)		probably null	Het
Kif26b	A	T	1: 178,756,407 (GRCm39)		probably null	Het
Loxl1	A	G	9: 58,204,961 (GRCm39)	V418A	probably damaging	Het
Lrp2	T	C	2: 69,312,710 (GRCm39)	D2526G	possibly damaging	Het
Map4	G	T	9: 109,910,525 (GRCm39)	G851C	probably damaging	Het
Mtmr11	A	T	3: 96,076,413 (GRCm39)	E456V	possibly damaging	Het
Muc13	G	A	16: 33,628,409 (GRCm39)		probably null	Het
Myo18a	C	A	11: 77,710,798 (GRCm39)		probably benign	Het
Nphp4	T	A	4: 152,587,465 (GRCm39)		probably benign	Het
Nrg3	T	C	14: 38,103,659 (GRCm39)	E445G	probably damaging	Het
Ntrk1	A	G	3: 87,686,941 (GRCm39)		probably null	Het
Or8b1	G	T	9: 38,399,351 (GRCm39)	V9L	possibly damaging	Het
Parp6	T	C	9: 59,531,288 (GRCm39)	S57P	probably damaging	Het
Pcdhb12	A	G	18: 37,569,858 (GRCm39)	N335D	probably damaging	Het
Pdzph1	T	C	17: 59,195,162 (GRCm39)		probably null	Het
Pea15a	C	T	1: 172,026,704 (GRCm39)	R79H	probably benign	Het
Pik3ca	A	C	3: 32,492,076 (GRCm39)	I225L	possibly damaging	Het
Pim3	T	A	15: 88,748,793 (GRCm39)	I270N	probably damaging	Het
Pkd1l1	T	A	11: 8,829,112 (GRCm39)	R1043S	probably damaging	Het
Plekhg6	A	G	6: 125,354,431 (GRCm39)	S70P	probably benign	Het
Ptpn13	T	A	5: 103,637,527 (GRCm39)	D138E	possibly damaging	Het
Rap1gap	T	C	4: 137,455,034 (GRCm39)	L354P	probably benign	Het
Rsf1	CG	CGACGGCGGTG	7: 97,229,115 (GRCm39)		probably benign	Het
Sf3a1	T	A	11: 4,127,443 (GRCm39)	S590T	probably benign	Het
Slc14a2	T	C	18: 78,206,304 (GRCm39)		probably benign	Het
Slfn3	T	G	11: 83,103,798 (GRCm39)	I223S	probably benign	Het
Smarca1	C	T	X: 46,964,160 (GRCm39)	V331I	probably benign	Het
Soat1	A	G	1: 156,265,267 (GRCm39)		probably benign	Het
Tinagl1	A	G	4: 130,061,226 (GRCm39)	V308A	probably benign	Het
Tomm22	T	A	15: 79,555,488 (GRCm39)	Y78N	probably damaging	Het
Ttll1	T	C	15: 83,380,609 (GRCm39)	Y252C	probably damaging	Het
Ttn	C	T	2: 76,623,474 (GRCm39)	V15368I	probably benign	Het
Ubr4	T	C	4: 139,147,684 (GRCm39)		probably benign	Het
Xkr7	A	T	2: 152,896,177 (GRCm39)	I344F	probably damaging	Het
Zfp947	A	T	17: 22,364,919 (GRCm39)	C252S	probably benign	Het

Other mutations in Wbp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Wbp2	APN	11	115,972,066 (GRCm39)	missense	possibly damaging	0.46
R0006:Wbp2	UTSW	11	115,970,614 (GRCm39)	splice site	probably null
R0565:Wbp2	UTSW	11	115,973,211 (GRCm39)	missense	possibly damaging	0.80
R1510:Wbp2	UTSW	11	115,977,708 (GRCm39)	missense	probably benign	0.03
R1733:Wbp2	UTSW	11	115,974,709 (GRCm39)	missense	probably benign	0.10
R1968:Wbp2	UTSW	11	115,973,191 (GRCm39)	missense	possibly damaging	0.90
R1989:Wbp2	UTSW	11	115,971,047 (GRCm39)	critical splice donor site	probably null
R2109:Wbp2	UTSW	11	115,971,445 (GRCm39)	nonsense	probably null
R3079:Wbp2	UTSW	11	115,970,534 (GRCm39)	splice site	probably null
R4239:Wbp2	UTSW	11	115,971,373 (GRCm39)	unclassified	probably benign
R4647:Wbp2	UTSW	11	115,973,207 (GRCm39)	missense	probably benign	0.01
R4831:Wbp2	UTSW	11	115,971,463 (GRCm39)	nonsense	probably null
R6146:Wbp2	UTSW	11	115,974,728 (GRCm39)	missense	probably benign	0.07
R6367:Wbp2	UTSW	11	115,974,741 (GRCm39)	missense	probably benign	0.36
R6455:Wbp2	UTSW	11	115,970,579 (GRCm39)	missense	probably damaging	0.98
R6823:Wbp2	UTSW	11	115,977,736 (GRCm39)	missense	probably benign	0.41
R9216:Wbp2	UTSW	11	115,974,724 (GRCm39)	missense	probably benign	0.32
Z1088:Wbp2	UTSW	11	115,977,739 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GTTCCACCTTTCTATCAGGGCTAG -3'
(R):5'- TTTAACAGCCGAGGCCAAGG -3'

Sequencing Primer
(F):5'- TATCAGGGCTAGCTCCTGC -3'
(R):5'- TTCTTAGTCACGCAGCC -3'

Posted On

2014-10-16