Mutagenetix > Incidental Mutation

Incidental Mutation 'R2109:Wbp2'

232398

Institutional Source

Beutler Lab

Gene Symbol

Wbp2

Ensembl Gene

ENSMUSG00000034341

Gene Name

WW domain binding protein 2

Synonyms

MMRRC Submission

040113-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

115969399-115977821 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 115971445 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 153 (Y153*)

Ref Sequence

ENSEMBL: ENSMUSP00000074204 (fasta)

Gene Model

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

AlphaFold

P97765

Predicted Effect

probably null
Transcript: ENSMUST00000074628
AA Change: Y153*

SMART Domains

Protein: ENSMUSP00000074204
Gene: ENSMUSG00000034341
AA Change: Y153*

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 benign
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: ENSMUST00000155120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146339

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

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410002F23Rik	G	T	7: 43,900,435 (GRCm39)	R113S	probably benign	Het
Ackr2	A	T	9: 121,738,026 (GRCm39)	I134F	probably damaging	Het
Actr3b	T	A	5: 26,036,709 (GRCm39)	I174N	possibly damaging	Het
Akap9	T	A	5: 4,094,847 (GRCm39)	S2214T	possibly damaging	Het
Arhgef12	C	A	9: 42,890,768 (GRCm39)	R986L	possibly damaging	Het
Brap	G	T	5: 121,801,422 (GRCm39)	S59I	possibly damaging	Het
Btnl1	C	T	17: 34,598,578 (GRCm39)	H65Y	probably damaging	Het
C1s2	T	C	6: 124,612,004 (GRCm39)	T121A	probably damaging	Het
Capn1	T	A	19: 6,064,388 (GRCm39)	Y37F	probably benign	Het
Ccdc39	T	C	3: 33,869,650 (GRCm39)	K726E	probably damaging	Het
Cd300lb	G	A	11: 114,816,865 (GRCm39)	S195F	probably damaging	Het
Cenpf	T	C	1: 189,411,264 (GRCm39)	K307E	probably damaging	Het
Chodl	A	C	16: 78,738,251 (GRCm39)	N73T	possibly damaging	Het
Cimip2c	G	A	5: 30,637,851 (GRCm39)	G66E	probably damaging	Het
Crnn	A	T	3: 93,055,747 (GRCm39)	M178L	probably benign	Het
Cyp4a12b	A	G	4: 115,290,110 (GRCm39)	D221G	probably damaging	Het
Dipk2a	A	T	9: 94,406,498 (GRCm39)	I303N	probably damaging	Het
Dmxl2	A	G	9: 54,301,097 (GRCm39)	V2338A	probably benign	Het
Dnah9	G	T	11: 65,928,411 (GRCm39)	P2086Q	probably damaging	Het
Dsg2	A	G	18: 20,725,346 (GRCm39)	I486V	probably benign	Het
E2f8	A	G	7: 48,524,855 (GRCm39)	S265P	probably damaging	Het
Eif1b	A	G	9: 120,323,296 (GRCm39)	D52G	probably benign	Het
Etl4	A	T	2: 20,790,153 (GRCm39)	T602S	probably benign	Het
Exoc3l2	A	T	7: 19,223,059 (GRCm39)		probably benign	Het
Fbxl6	C	A	15: 76,421,173 (GRCm39)	V297F	probably damaging	Het
Fgr	T	A	4: 132,725,786 (GRCm39)	N398K	probably benign	Het
G3bp1	A	G	11: 55,379,986 (GRCm39)	R107G	probably damaging	Het
Gp2	A	T	7: 119,052,155 (GRCm39)	N186K	probably benign	Het
Hbs1l	T	A	10: 21,217,831 (GRCm39)	L249*	probably null	Het
Hmgcs2	T	A	3: 98,204,337 (GRCm39)	L246*	probably null	Het
Hsp90ab1	G	T	17: 45,880,254 (GRCm39)	H96Q	probably benign	Het
Ibtk	C	T	9: 85,588,603 (GRCm39)	V1078I	probably benign	Het
Ltn1	T	C	16: 87,212,530 (GRCm39)	D677G	probably benign	Het
Lyst	C	T	13: 13,887,405 (GRCm39)	T3078I	possibly damaging	Het
Mamdc4	A	G	2: 25,459,402 (GRCm39)	F199S	probably damaging	Het
Megf6	G	T	4: 154,261,578 (GRCm39)	V68L	probably benign	Het
Mki67	G	A	7: 135,299,592 (GRCm39)	T1814I	probably damaging	Het
Msantd5l	T	A	11: 51,145,264 (GRCm39)	I108F	possibly damaging	Het
Mttp	A	T	3: 137,800,763 (GRCm39)	F766I	probably benign	Het
Nbl1	T	A	4: 138,810,915 (GRCm39)		probably null	Het
Nmrk1	T	A	19: 18,618,802 (GRCm39)	L118Q	probably damaging	Het
Nopchap1	C	T	10: 83,201,656 (GRCm39)	S143L	probably damaging	Het
Oog3	A	T	4: 143,886,082 (GRCm39)	L172H	probably damaging	Het
Or2y11	T	G	11: 49,443,260 (GRCm39)	S229A	probably damaging	Het
Osbpl1a	T	G	18: 12,892,457 (GRCm39)	Q332P	probably damaging	Het
Pik3cg	A	G	12: 32,243,709 (GRCm39)	F921L	possibly damaging	Het
Plch2	T	C	4: 155,069,054 (GRCm39)	S1086G	possibly damaging	Het
Plekha5	A	G	6: 140,369,942 (GRCm39)	T18A	possibly damaging	Het
Pogz	T	A	3: 94,786,276 (GRCm39)	S955T	probably benign	Het
Pot1b	A	T	17: 55,960,413 (GRCm39)	I639N	probably benign	Het
Prkdc	T	C	16: 15,505,254 (GRCm39)	I852T	probably benign	Het
Prps1l1	A	G	12: 35,035,521 (GRCm39)	K212R	probably benign	Het
Ptpn5	A	G	7: 46,735,807 (GRCm39)	Y304H	probably damaging	Het
Ralgapa1	A	G	12: 55,822,973 (GRCm39)	I281T	possibly damaging	Het
Rgs22	A	T	15: 36,099,880 (GRCm39)	Y278*	probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rnf213	T	A	11: 119,333,489 (GRCm39)	Y2899*	probably null	Het
Rttn	C	T	18: 89,004,197 (GRCm39)	T397I	possibly damaging	Het
Sacs	G	T	14: 61,410,902 (GRCm39)		probably null	Het
Sbf2	G	T	7: 110,060,419 (GRCm39)	Q182K	probably damaging	Het
Sec14l5	C	T	16: 4,984,968 (GRCm39)	R105*	probably null	Het
Sh2b1	A	T	7: 126,071,536 (GRCm39)	D216E	possibly damaging	Het
Sh3gl3	A	G	7: 81,920,008 (GRCm39)	N72S	possibly damaging	Het
Slc12a1	A	T	2: 125,015,619 (GRCm39)	I391F	probably damaging	Het
Slc36a2	G	A	11: 55,072,381 (GRCm39)	A77V	probably damaging	Het
Smc2	A	T	4: 52,474,987 (GRCm39)	I888L	probably benign	Het
Smoc1	C	T	12: 81,197,450 (GRCm39)	T194M	probably damaging	Het
Sorcs1	C	T	19: 50,666,630 (GRCm39)	G93R	probably benign	Het
Sox30	T	G	11: 45,882,595 (GRCm39)	F542V	probably damaging	Het
Svep1	A	G	4: 58,206,030 (GRCm39)	V116A	possibly damaging	Het
Synj2	A	G	17: 6,063,966 (GRCm39)	D330G	probably benign	Het
Tenm3	A	C	8: 48,796,384 (GRCm39)	S202A	possibly damaging	Het
Tg	C	T	15: 66,601,443 (GRCm39)	T151I	probably benign	Het
Tnfaip2	A	G	12: 111,414,527 (GRCm39)	E361G	probably damaging	Het
Tnk1	A	T	11: 69,746,009 (GRCm39)	D305E	probably damaging	Het
Tpp1	A	G	7: 105,399,177 (GRCm39)	L133P	probably damaging	Het
Trappc1	T	A	11: 69,215,243 (GRCm39)	M41K	probably damaging	Het
Tsen54	A	G	11: 115,706,549 (GRCm39)	D9G	probably damaging	Het
Ttn	T	A	2: 76,804,598 (GRCm39)	I225F	probably damaging	Het
Ube4b	T	C	4: 149,457,298 (GRCm39)	K313R	probably benign	Het
Vps50	T	C	6: 3,555,379 (GRCm39)	V425A	probably damaging	Het
Xrn1	A	G	9: 95,861,273 (GRCm39)	S478G	probably benign	Het
Zfp354c	T	C	11: 50,707,969 (GRCm39)	E77G	probably benign	Het
Zfp462	T	C	4: 55,008,496 (GRCm39)	M154T	probably benign	Het
Zfp704	A	G	3: 9,539,585 (GRCm39)	V255A	probably damaging	Het
Zfp763	G	T	17: 33,238,752 (GRCm39)	A131E	probably benign	Het
Zfp931	A	T	2: 177,711,651 (GRCm39)	V32E	probably null	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
R2264:Wbp2	UTSW	11	115,970,424 (GRCm39)	critical splice acceptor site	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'- TCCTAACTAGTCTTGGGATGCCC -3'
(R):5'- ACATGGTGACCTAGGCAGAC -3'

Sequencing Primer
(F):5'- AACTAGTCTTGGGATGCCCTCTAAAC -3'
(R):5'- TGACCTAGGCAGACCCCTTG -3'

Posted On

2014-09-18