Mutagenetix > Incidental Mutation

Incidental Mutation 'R9216:Wbp2'

699205

Institutional Source

Beutler Lab

Gene Symbol

Wbp2

Ensembl Gene

ENSMUSG00000034341

Gene Name

WW domain binding protein 2

Synonyms

MMRRC Submission

068958-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9216 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

115969399-115977821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 115974724 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 37 (N37D)

Ref Sequence

ENSEMBL: ENSMUSP00000074204 (fasta)

Gene Model

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

AlphaFold

P97765

Predicted Effect

probably benign
Transcript: ENSMUST00000074628
AA Change: N37D

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000074204
Gene: ENSMUSG00000034341
AA Change: N37D

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: N37D

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000102052
Gene: ENSMUSG00000034341
AA Change: N37D

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

Meta Mutation Damage Score

0.1266

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (50/50)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap6	A	T	12: 52,927,668 (GRCm39)	T193S	probably benign	Het
Anpep	T	C	7: 79,486,049 (GRCm39)	T558A	possibly damaging	Het
Asap2	A	G	12: 21,263,191 (GRCm39)	I269V	probably benign	Het
B3galnt2	T	C	13: 14,165,423 (GRCm39)	V273A	probably benign	Het
Bag3	C	A	7: 128,143,923 (GRCm39)	D306E	possibly damaging	Het
Bahcc1	C	T	11: 120,177,514 (GRCm39)	P2076S	probably damaging	Het
Btbd7	A	C	12: 102,761,563 (GRCm39)	L541V	probably damaging	Het
C6	A	T	15: 4,820,465 (GRCm39)	D492V	probably damaging	Het
Cdhr5	C	T	7: 140,851,615 (GRCm39)	S563N	possibly damaging	Het
Cnn1	C	G	9: 22,019,474 (GRCm39)	L281V	probably benign	Het
Egflam	G	A	15: 7,281,942 (GRCm39)	T398I	probably benign	Het
Eif4g2	T	G	7: 110,673,415 (GRCm39)	D788A	probably benign	Het
Elavl4	T	C	4: 110,108,546 (GRCm39)	E66G	probably damaging	Het
Fbxw16	T	A	9: 109,276,887 (GRCm39)	D87V	probably damaging	Het
Fsip2	A	T	2: 82,820,425 (GRCm39)	D5386V	probably damaging	Het
Ftl1	A	C	7: 45,108,959 (GRCm39)	S33A	probably benign	Het
Gm21560	T	C	14: 6,218,338 (GRCm38)	R47G	probably damaging	Het
Itpkc	A	T	7: 26,927,429 (GRCm39)	C162S	probably benign	Het
Katnip	T	A	7: 125,471,926 (GRCm39)	I1531N	probably damaging	Het
Kremen2	C	T	17: 23,962,781 (GRCm39)	A102T	probably damaging	Het
L3mbtl1	A	T	2: 162,806,972 (GRCm39)	Q480L	probably benign	Het
Lyst	T	C	13: 13,823,188 (GRCm39)	C1387R	probably benign	Het
Nmi	A	G	2: 51,846,003 (GRCm39)	V93A	probably damaging	Het
Ntn1	T	C	11: 68,117,397 (GRCm39)	K484R	possibly damaging	Het
Olig1	T	C	16: 91,066,915 (GRCm39)	S51P	probably benign	Het
Or6c76	A	T	10: 129,611,796 (GRCm39)	R4S	probably benign	Het
Pah	G	T	10: 87,357,888 (GRCm39)	V4F	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Pramel39-ps	A	T	5: 94,450,952 (GRCm39)	N391K	possibly damaging	Het
Prox1	C	A	1: 189,892,905 (GRCm39)	E513D	possibly damaging	Het
Psd3	T	C	8: 68,573,539 (GRCm39)	N214S	probably benign	Het
Rhobtb1	A	G	10: 69,108,628 (GRCm39)	S505G	probably benign	Het
Ryr1	A	T	7: 28,801,277 (GRCm39)	L829H	probably damaging	Het
Sec16a	A	T	2: 26,304,401 (GRCm39)	D852E		Het
Senp2	T	C	16: 21,847,344 (GRCm39)		probably null	Het
Sf3b1	A	G	1: 55,051,376 (GRCm39)	V184A	probably benign	Het
Skint5	T	C	4: 113,392,955 (GRCm39)	T1226A	unknown	Het
Slc1a6	G	A	10: 78,637,692 (GRCm39)	R406H	probably damaging	Het
Slc26a4	C	A	12: 31,578,659 (GRCm39)	V665L	possibly damaging	Het
Spef2	T	C	15: 9,647,611 (GRCm39)	Y932C	probably damaging	Het
Spidr	T	A	16: 15,936,814 (GRCm39)	N97I	probably benign	Het
Ttn	A	G	2: 76,748,504 (GRCm39)	S4182P	probably damaging	Het
Tubb6	T	C	18: 67,534,514 (GRCm39)	S138P	probably damaging	Het
Ubr2	C	T	17: 47,292,285 (GRCm39)	A393T	probably benign	Het
Utrn	G	T	10: 12,689,229 (GRCm39)	P19T	probably benign	Het
Vcl	T	G	14: 21,033,515 (GRCm39)	L157W	probably damaging	Het
Vmn1r184	A	T	7: 25,966,703 (GRCm39)	I150F	probably benign	Het
Vmn1r22	A	T	6: 57,877,257 (GRCm39)	M240K	possibly damaging	Het
Vmn2r14	A	T	5: 109,369,112 (GRCm39)	S154T	probably benign	Het
Zfc3h1	C	G	10: 115,221,528 (GRCm39)	D142E	unknown	Het
Zmym6	T	C	4: 127,002,500 (GRCm39)	V577A	probably benign	Het
Zxdc	C	A	6: 90,359,189 (GRCm39)	T607K	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
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
Z1088:Wbp2	UTSW	11	115,977,739 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ACAAAGGGCCAGTATGCTTC -3'
(R):5'- AGACCAGGCTTGTTCCTCTC -3'

Sequencing Primer
(F):5'- GCCAGTATGCTTCTAGAATCCAGG -3'
(R):5'- AGGCTTGTTCCTCTCCATTGGG -3'

Posted On

2022-02-07