Mutagenetix > Incidental Mutation

Incidental Mutation 'R1510:Wbp2'

167872

Institutional Source

Beutler Lab

Gene Symbol

Wbp2

Ensembl Gene

ENSMUSG00000034341

Gene Name

WW domain binding protein 2

Synonyms

MMRRC Submission

039557-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1510 (G1)

Quality Score

145

Status

Validated

Chromosome

Chromosomal Location

115969399-115977821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 115977708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 15 (V15A)

Ref Sequence

ENSEMBL: ENSMUSP00000102052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074628] [ENSMUST00000106444]

AlphaFold

P97765

Predicted Effect

probably benign
Transcript: ENSMUST00000074628
AA Change: V15A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000074204
Gene: ENSMUSG00000034341
AA Change: V15A

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: ENSMUST00000106444
AA Change: V15A

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000102052
Gene: ENSMUSG00000034341
AA Change: V15A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129532

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146339

Meta Mutation Damage Score

0.2141

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	A	G	15: 91,073,181 (GRCm39)	L326S	probably damaging	Het
Adam18	T	A	8: 25,115,847 (GRCm39)	T616S	probably benign	Het
Adam22	T	C	5: 8,202,408 (GRCm39)	K215E	probably benign	Het
Ahi1	T	G	10: 20,835,699 (GRCm39)	S11A	probably benign	Het
Asb18	T	C	1: 89,923,976 (GRCm39)	M96V	possibly damaging	Het
Baz2b	T	C	2: 59,752,553 (GRCm39)	D1149G	probably damaging	Het
C1qtnf3	A	G	15: 10,975,722 (GRCm39)	E176G	probably benign	Het
Cd151	T	A	7: 141,050,280 (GRCm39)	S172T	probably benign	Het
Cdh2	G	T	18: 16,781,651 (GRCm39)	L90I	probably benign	Het
Cdkl3	T	C	11: 51,924,341 (GRCm39)	V55A	possibly damaging	Het
Cfap90	T	A	13: 68,745,596 (GRCm39)	M1K	probably null	Het
Chst8	T	A	7: 34,374,693 (GRCm39)	H382L	probably benign	Het
Cyb5r4	T	C	9: 86,948,696 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,950,209 (GRCm39)	D264G	possibly damaging	Het
Daam1	A	G	12: 72,024,500 (GRCm39)	M814V	probably damaging	Het
Ddx19b	A	G	8: 111,742,285 (GRCm39)	I150T	probably damaging	Het
Dync1li1	T	G	9: 114,518,278 (GRCm39)	S50A	possibly damaging	Het
Fat3	A	T	9: 15,871,351 (GRCm39)	L3680Q	probably damaging	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Gm21286	T	G	4: 60,794,931 (GRCm39)		noncoding transcript	Het
Il6	T	C	5: 30,223,060 (GRCm39)	Y126H	probably damaging	Het
Inhba	G	T	13: 16,201,607 (GRCm39)	V390L	probably damaging	Het
Ino80	C	T	2: 119,280,530 (GRCm39)	R278H	probably damaging	Het
Jade3	T	G	X: 20,384,057 (GRCm39)	N799K	probably benign	Het
Kcnn1	G	A	8: 71,316,714 (GRCm39)		probably benign	Het
Klhl6	T	C	16: 19,765,848 (GRCm39)	T585A	probably damaging	Het
Kmt2d	T	A	15: 98,754,258 (GRCm39)		probably benign	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lce1b	T	G	3: 92,563,283 (GRCm39)	R83S	unknown	Het
Lck	T	C	4: 129,449,461 (GRCm39)	S290G	possibly damaging	Het
Ltbp3	T	C	19: 5,798,915 (GRCm39)	S544P	probably benign	Het
Lypd6b	T	A	2: 49,824,831 (GRCm39)	S4R	probably damaging	Het
Macf1	T	C	4: 123,328,555 (GRCm39)	D4724G	probably null	Het
Mcoln2	A	G	3: 145,882,365 (GRCm39)	T255A	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Mki67	C	A	7: 135,297,900 (GRCm39)	R2378L	probably benign	Het
Mxd1	A	G	6: 86,630,137 (GRCm39)	V27A	possibly damaging	Het
Myo5a	T	C	9: 75,078,833 (GRCm39)	Y864H	probably benign	Het
Ndel1	A	T	11: 68,713,482 (GRCm39)	N318K	possibly damaging	Het
Oasl1	A	G	5: 115,066,167 (GRCm39)	Q95R	probably benign	Het
Or5ac16	A	T	16: 59,022,546 (GRCm39)	M81K	probably damaging	Het
Or5j3	T	C	2: 86,128,715 (GRCm39)	L185P	probably damaging	Het
Or5p57	T	C	7: 107,665,735 (GRCm39)	Y60C	probably damaging	Het
Or6b2b	A	T	1: 92,419,339 (GRCm39)	I46N	probably damaging	Het
Parp10	T	A	15: 76,125,617 (GRCm39)	Q487L	probably damaging	Het
Pcdh10	C	T	3: 45,333,838 (GRCm39)	R51C	probably damaging	Het
Pdpr	A	T	8: 111,851,107 (GRCm39)		probably benign	Het
Pfpl	A	T	19: 12,407,060 (GRCm39)	D437V	probably benign	Het
Pik3c2a	G	A	7: 115,987,280 (GRCm39)	T547I	probably benign	Het
Pkdrej	A	C	15: 85,700,963 (GRCm39)	S1658A	possibly damaging	Het
Pkn3	T	C	2: 29,969,776 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,867,004 (GRCm39)		probably null	Het
Plxdc1	A	T	11: 97,823,150 (GRCm39)	C357S	probably damaging	Het
Pnp	A	G	14: 51,188,042 (GRCm39)	T132A	possibly damaging	Het
Prorp	A	T	12: 55,350,997 (GRCm39)	Q102L	probably benign	Het
Rcan2	A	G	17: 44,147,315 (GRCm39)	D51G	probably damaging	Het
Rcn1	T	C	2: 105,219,434 (GRCm39)	N253S	probably damaging	Het
Rreb1	T	A	13: 38,115,860 (GRCm39)	I1073N	probably benign	Het
Scaf4	G	T	16: 90,042,282 (GRCm39)	D686E	unknown	Het
Sfxn5	A	C	6: 85,213,907 (GRCm39)	M221R	probably damaging	Het
Slc38a1	A	G	15: 96,507,741 (GRCm39)	F104L	probably damaging	Het
Slc8a1	A	T	17: 81,955,547 (GRCm39)	V497D	probably damaging	Het
Spryd3	C	A	15: 102,027,396 (GRCm39)	G290C	probably damaging	Het
Stc2	A	T	11: 31,315,418 (GRCm39)	Y140*	probably null	Het
Stfa2	A	T	16: 36,228,673 (GRCm39)	I8K	possibly damaging	Het
Sult3a2	A	T	10: 33,658,026 (GRCm39)	M29K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Triobp	G	A	15: 78,887,967 (GRCm39)	R1908Q	probably damaging	Het
Trpm2	T	A	10: 77,802,828 (GRCm39)	R7*	probably null	Het
Ttn	T	C	2: 76,782,501 (GRCm39)	I912V	probably benign	Het
Tusc2	T	A	9: 107,442,080 (GRCm39)	V93E	probably damaging	Het
Uhrf2	T	A	19: 30,016,461 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,178,203 (GRCm39)	V60M	probably damaging	Het
Ush2a	A	T	1: 188,380,501 (GRCm39)	D2270V	probably damaging	Het
Vmn2r80	A	G	10: 79,005,553 (GRCm39)	T397A	possibly damaging	Het
Zfp182	T	A	X: 20,896,446 (GRCm39)	R617W	probably damaging	Het
Zfp82	C	A	7: 29,756,047 (GRCm39)	R345L	probably damaging	Het
Zfp85	T	C	13: 67,903,084 (GRCm39)		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
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
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'- TTGGGAAGGGGTTCAAGAAATCACC -3'
(R):5'- GCGCAGGAACTATGATTGGCTGAC -3'

Sequencing Primer
(F):5'- acccacccactccctcc -3'
(R):5'- TTGGCTGACTGTAATACGAACG -3'

Posted On

2014-04-13