Incidental Mutation 'R6146:Wbp2'
ID 488891
Institutional Source Beutler Lab
Gene Symbol Wbp2
Ensembl Gene ENSMUSG00000034341
Gene Name WW domain binding protein 2
Synonyms
MMRRC Submission 044293-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6146 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 115969399-115977821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 115974728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 35 (M35I)
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: M35I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000074204
Gene: ENSMUSG00000034341
AA Change: M35I

DomainStartEndE-ValueType
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: M35I

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102052
Gene: ENSMUSG00000034341
AA Change: M35I

DomainStartEndE-ValueType
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: ENSMUST00000145278
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146339
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A G 5: 8,946,587 (GRCm39) E29G probably benign Het
Abi3bp T C 16: 56,491,628 (GRCm39) S552P probably damaging Het
Adgrg7 A G 16: 56,593,829 (GRCm39) I129T probably benign Het
Adhfe1 A G 1: 9,623,943 (GRCm39) N148S probably damaging Het
AI182371 A G 2: 34,987,983 (GRCm39) Y77H probably damaging Het
Aldh5a1 C T 13: 25,103,661 (GRCm39) probably null Het
Ankrd2 A G 19: 42,028,544 (GRCm39) T67A possibly damaging Het
Anln A T 9: 22,287,604 (GRCm39) C232* probably null Het
Cchcr1 A G 17: 35,839,475 (GRCm39) D587G possibly damaging Het
Cgn G T 3: 94,674,435 (GRCm39) Q901K possibly damaging Het
Cip2a A T 16: 48,814,692 (GRCm39) K18* probably null Het
Cluh G T 11: 74,558,054 (GRCm39) probably null Het
Crebbp G A 16: 3,902,487 (GRCm39) Q2213* probably null Het
Cyp2d22 T A 15: 82,258,036 (GRCm39) probably null Het
Dcdc2a T C 13: 25,389,440 (GRCm39) V456A probably benign Het
Depdc5 A G 5: 33,126,075 (GRCm39) E569G probably benign Het
Dnah5 T C 15: 28,459,331 (GRCm39) F4517L probably benign Het
Doc2b T C 11: 75,664,421 (GRCm39) K317E probably damaging Het
Dysf T A 6: 84,180,181 (GRCm39) D1951E probably damaging Het
Epha6 C A 16: 60,245,198 (GRCm39) A334S possibly damaging Het
F2rl2 A C 13: 95,837,149 (GRCm39) I65L probably benign Het
Fbxw17 A G 13: 50,586,548 (GRCm39) K417E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Fxr2 A G 11: 69,532,165 (GRCm39) M96V possibly damaging Het
Kcnj10 C A 1: 172,196,892 (GRCm39) Y135* probably null Het
Kidins220 G A 12: 25,102,812 (GRCm39) R1238Q probably damaging Het
Krt31 T C 11: 99,939,056 (GRCm39) N255S probably benign Het
Lrp2 T C 2: 69,341,345 (GRCm39) D945G probably benign Het
Lrrc66 T C 5: 73,765,432 (GRCm39) D537G probably benign Het
Ltbp4 T A 7: 27,019,149 (GRCm39) I992F probably damaging Het
Lzts1 A G 8: 69,593,524 (GRCm39) S28P probably benign Het
Mrc2 C A 11: 105,216,470 (GRCm39) N86K probably damaging Het
Mroh6 C A 15: 75,758,486 (GRCm39) A302S possibly damaging Het
Muc16 T A 9: 18,409,093 (GRCm39) N198Y probably damaging Het
Myo9a T C 9: 59,778,512 (GRCm39) S1423P probably benign Het
Or10ag58 A T 2: 87,265,662 (GRCm39) D277V possibly damaging Het
Or2b28 A T 13: 21,531,164 (GRCm39) Y22F possibly damaging Het
Or5h22 A G 16: 58,895,077 (GRCm39) V122A probably benign Het
Or5p56 G T 7: 107,589,620 (GRCm39) G16V probably damaging Het
Or5w17 A C 2: 87,583,602 (GRCm39) L245R probably damaging Het
Or9g4 T A 2: 85,504,938 (GRCm39) K186* probably null Het
Otogl G A 10: 107,612,978 (GRCm39) silent Het
Polg T C 7: 79,100,260 (GRCm39) M1184V probably benign Het
Prl8a8 T C 13: 27,694,463 (GRCm39) Y108C probably damaging Het
Proser1 T A 3: 53,385,540 (GRCm39) I474N probably damaging Het
Rab44 A G 17: 29,354,391 (GRCm39) probably benign Het
Rbp1 C A 9: 98,307,669 (GRCm39) D79E possibly damaging Het
Rnf213 T C 11: 119,326,825 (GRCm39) V1605A probably benign Het
Rps24 A T 14: 24,540,803 (GRCm39) probably null Het
Setd5 T C 6: 113,098,773 (GRCm39) probably null Het
Skic3 A G 13: 76,333,359 (GRCm39) E1536G probably damaging Het
Slc38a3 T C 9: 107,532,228 (GRCm39) I435V probably benign Het
Slco1a5 T A 6: 142,180,534 (GRCm39) M623L probably benign Het
Spaca9 G A 2: 28,583,793 (GRCm39) R64W probably damaging Het
Spn A G 7: 126,735,479 (GRCm39) S343P possibly damaging Het
Sptan1 A G 2: 29,894,535 (GRCm39) T1168A probably benign Het
Sptbn4 A T 7: 27,064,012 (GRCm39) L2138* probably null Het
Tg T A 15: 66,545,216 (GRCm39) probably null Het
Tigd5 T A 15: 75,782,094 (GRCm39) L152Q probably damaging Het
Tmem163 C T 1: 127,447,126 (GRCm39) V170I probably benign Het
Tpr T C 1: 150,298,913 (GRCm39) C1068R possibly damaging Het
Ubr1 A T 2: 120,723,690 (GRCm39) Y1290N probably damaging Het
Vmn1r184 T A 7: 25,966,817 (GRCm39) F188I probably benign Het
Vmn2r100 G A 17: 19,742,522 (GRCm39) V299I probably benign Het
Vmn2r91 T G 17: 18,356,518 (GRCm39) H728Q probably benign Het
Vta1 T C 10: 14,581,096 (GRCm39) Y37C probably damaging Het
Zcchc9 G A 13: 91,953,986 (GRCm39) Q90* probably null Het
Other mutations in Wbp2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TAACAGTCCCCAGGGTTCAG -3'
(R):5'- TCTTCTTGATCACGTGGGGC -3'

Sequencing Primer
(F):5'- TTCAGGGGCCACTGGTGTC -3'
(R):5'- GAGATTCATAGACCAGGCTTGTTCC -3'
Posted On 2017-10-10