Incidental Mutation 'IGL01735:Wbp2nl'
ID 105652
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wbp2nl
Ensembl Gene ENSMUSG00000022455
Gene Name WBP2 N-terminal like
Synonyms PAWP, 4930521I23Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01735
Quality Score
Status
Chromosome 15
Chromosomal Location 82183155-82198824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 82198017 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 185 (V185L)
Ref Sequence ENSEMBL: ENSMUSP00000023089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023089]
AlphaFold Q9D529
Predicted Effect probably benign
Transcript: ENSMUST00000023089
AA Change: V185L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: V185L

DomainStartEndE-ValueType
Pfam:GRAM 4 87 1e-9 PFAM
Pfam:WWbp 103 226 2e-23 PFAM
low complexity region 238 262 N/A INTRINSIC
low complexity region 277 288 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WBP2NL is a sperm-specific WW domain-binding protein that promotes meiotic resumption and pronuclear development during oocyte fertilization (Wu et al., 2007 [PubMed 17289678]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Male mice homozygous for a knock-out allele exhibit normal sperm morphology, acrosomal reaction, egg activation and fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy3 A T 12: 4,251,213 (GRCm39) M612L probably benign Het
Adhfe1 C A 1: 9,618,373 (GRCm39) T19K possibly damaging Het
Atxn1 C T 13: 45,720,198 (GRCm39) V566M probably damaging Het
Bag6 T C 17: 35,364,737 (GRCm39) probably benign Het
Cdkl1 T G 12: 69,797,514 (GRCm39) Y258S probably benign Het
Chil6 A T 3: 106,296,004 (GRCm39) probably null Het
Clcn7 T C 17: 25,370,090 (GRCm39) F326L probably benign Het
Cngb3 A G 4: 19,415,648 (GRCm39) Y386C probably damaging Het
Dnah6 C A 6: 73,053,643 (GRCm39) E2916* probably null Het
Dnhd1 A G 7: 105,362,961 (GRCm39) E3841G probably benign Het
Fat1 G T 8: 45,489,276 (GRCm39) V3493L probably benign Het
Irx5 A T 8: 93,087,331 (GRCm39) H421L probably damaging Het
Kbtbd6 T C 14: 79,690,889 (GRCm39) V465A probably damaging Het
Kcp T A 6: 29,498,878 (GRCm39) N340I probably damaging Het
Klhdc2 A G 12: 69,347,053 (GRCm39) M73V probably benign Het
Lpar1 A G 4: 58,437,407 (GRCm39) S341P probably damaging Het
Lrba G A 3: 86,234,968 (GRCm39) V838I probably benign Het
Med12l A G 3: 59,170,675 (GRCm39) I1652V probably damaging Het
Myo5c A T 9: 75,208,720 (GRCm39) D1677V probably damaging Het
Ncoa2 A T 1: 13,235,127 (GRCm39) N935K probably benign Het
Nfrkb T C 9: 31,321,435 (GRCm39) S711P possibly damaging Het
Or1j20 C A 2: 36,759,698 (GRCm39) T40K possibly damaging Het
Or52ae7 T C 7: 103,119,530 (GRCm39) F95L probably damaging Het
Or5w16 A G 2: 87,576,650 (GRCm39) I37V probably benign Het
Pramel27 A G 4: 143,578,401 (GRCm39) I220M probably damaging Het
Prl7d1 A G 13: 27,898,372 (GRCm39) F47L possibly damaging Het
Ptprd A C 4: 76,055,057 (GRCm39) probably null Het
Rsph14 C A 10: 74,860,992 (GRCm39) G103C probably damaging Het
Slco1a4 A G 6: 141,763,477 (GRCm39) F413S probably benign Het
Slfn9 A G 11: 82,873,158 (GRCm39) Y582H probably damaging Het
Tcirg1 A T 19: 3,954,210 (GRCm39) probably benign Het
Trac G A 14: 54,460,438 (GRCm39) probably benign Het
Other mutations in Wbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Wbp2nl APN 15 82,198,411 (GRCm39) missense probably benign 0.03
IGL01074:Wbp2nl APN 15 82,198,491 (GRCm39) missense possibly damaging 0.73
IGL01295:Wbp2nl APN 15 82,190,619 (GRCm39) missense probably damaging 1.00
IGL01621:Wbp2nl APN 15 82,192,806 (GRCm39) missense probably benign
IGL01987:Wbp2nl APN 15 82,192,762 (GRCm39) missense probably benign 0.03
IGL02426:Wbp2nl APN 15 82,190,374 (GRCm39) missense probably damaging 1.00
IGL02900:Wbp2nl APN 15 82,198,035 (GRCm39) missense probably benign
IGL02971:Wbp2nl APN 15 82,189,945 (GRCm39) missense possibly damaging 0.61
R0194:Wbp2nl UTSW 15 82,198,483 (GRCm39) missense possibly damaging 0.93
R0242:Wbp2nl UTSW 15 82,197,988 (GRCm39) missense probably benign
R0242:Wbp2nl UTSW 15 82,197,988 (GRCm39) missense probably benign
R0909:Wbp2nl UTSW 15 82,198,275 (GRCm39) missense probably benign 0.41
R1442:Wbp2nl UTSW 15 82,198,407 (GRCm39) missense probably benign
R1753:Wbp2nl UTSW 15 82,189,945 (GRCm39) missense probably damaging 0.97
R4085:Wbp2nl UTSW 15 82,192,762 (GRCm39) missense probably benign 0.07
R4086:Wbp2nl UTSW 15 82,192,762 (GRCm39) missense probably benign 0.07
R4087:Wbp2nl UTSW 15 82,192,762 (GRCm39) missense probably benign 0.07
R4726:Wbp2nl UTSW 15 82,190,255 (GRCm39) missense probably damaging 1.00
R4840:Wbp2nl UTSW 15 82,198,537 (GRCm39) missense possibly damaging 0.96
R6338:Wbp2nl UTSW 15 82,183,246 (GRCm39) missense possibly damaging 0.94
R6339:Wbp2nl UTSW 15 82,183,246 (GRCm39) missense possibly damaging 0.94
R6820:Wbp2nl UTSW 15 82,197,996 (GRCm39) missense possibly damaging 0.65
R7156:Wbp2nl UTSW 15 82,189,903 (GRCm39) missense probably damaging 1.00
R7323:Wbp2nl UTSW 15 82,198,542 (GRCm39) makesense probably null
R7598:Wbp2nl UTSW 15 82,192,762 (GRCm39) missense probably benign 0.07
R7857:Wbp2nl UTSW 15 82,190,273 (GRCm39) missense probably benign 0.24
R7903:Wbp2nl UTSW 15 82,190,332 (GRCm39) nonsense probably null
R9242:Wbp2nl UTSW 15 82,192,748 (GRCm39) missense probably benign 0.22
R9379:Wbp2nl UTSW 15 82,198,311 (GRCm39) missense possibly damaging 0.83
Z1177:Wbp2nl UTSW 15 82,192,765 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21