Incidental Mutation 'IGL02900:Wbp2nl'
ID363542
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wbp2nl
Ensembl Gene ENSMUSG00000022455
Gene NameWBP2 N-terminal like
Synonyms4930521I23Rik, PAWP
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02900
Quality Score
Status
Chromosome15
Chromosomal Location82298954-82314623 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82313834 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 191 (S191P)
Ref Sequence ENSEMBL: ENSMUSP00000023089 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023089]
Predicted Effect probably benign
Transcript: ENSMUST00000023089
AA Change: S191P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000023089
Gene: ENSMUSG00000022455
AA Change: S191P

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik G T 11: 99,837,948 T23N possibly damaging Het
Angpt4 T A 2: 151,911,471 V47E probably damaging Het
Arhgef11 G A 3: 87,733,160 R1208Q probably benign Het
Calb1 T C 4: 15,895,695 probably benign Het
Capn11 G T 17: 45,630,614 probably null Het
Carmil2 T A 8: 105,695,519 I1140N probably damaging Het
Cnn3 A T 3: 121,451,494 T23S probably benign Het
Colgalt2 C T 1: 152,508,730 T607M probably damaging Het
Cyp46a1 T G 12: 108,343,091 V93G probably damaging Het
Dcaf6 T C 1: 165,399,775 Y261C probably damaging Het
Dnah10 A G 5: 124,801,822 Y2715C probably damaging Het
Dsg1a G T 18: 20,328,656 probably benign Het
Eml4 C T 17: 83,477,992 P862L probably benign Het
Gm13088 A T 4: 143,655,515 F204I possibly damaging Het
Gm5414 T C 15: 101,627,807 T128A probably damaging Het
Gp9 G T 6: 87,779,433 W143C probably damaging Het
Hipk2 T C 6: 38,729,944 I670V probably damaging Het
Hoxa10 T C 6: 52,232,561 K77R possibly damaging Het
Kcna1 T G 6: 126,643,094 S88R probably damaging Het
Kif1b A T 4: 149,180,809 S1758T possibly damaging Het
Klk11 A G 7: 43,778,413 T182A probably damaging Het
Lrp1 G A 10: 127,576,647 probably benign Het
Magi1 A G 6: 93,686,873 S991P probably damaging Het
Mast4 T A 13: 102,735,676 T2203S probably benign Het
Mxra8 A G 4: 155,841,211 probably null Het
Mxra8 A G 4: 155,841,119 E95G possibly damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr112 A G 17: 37,563,849 I154T possibly damaging Het
Olfr452 T A 6: 42,790,874 Y278* probably null Het
Olfr967 A T 9: 39,750,605 H73L probably benign Het
Olfr971 T A 9: 39,839,812 I126N probably damaging Het
Pbx4 A G 8: 69,866,566 E249G probably damaging Het
Pkd1l2 T C 8: 117,024,091 E1727G probably benign Het
Plec T G 15: 76,186,214 D932A probably damaging Het
Raph1 T C 1: 60,502,863 D364G probably damaging Het
Rps29 T A 12: 69,159,051 H3L probably damaging Het
Sema4c A T 1: 36,550,745 C509* probably null Het
Srgap2 A T 1: 131,411,796 probably benign Het
Stam2 A T 2: 52,708,197 D243E probably benign Het
Stxbp4 A G 11: 90,607,035 L146P probably benign Het
Teddm3 G T 16: 21,153,150 T223K probably benign Het
Tfap2d A T 1: 19,119,250 N285Y probably damaging Het
Tmprss3 T A 17: 31,184,579 D416V probably damaging Het
Vmn1r71 T A 7: 10,748,674 Y29F probably benign Het
Vmn2r84 T C 10: 130,387,992 probably benign Het
Washc2 G T 6: 116,227,474 D362Y probably damaging Het
Zfp608 T C 18: 54,946,793 T307A probably damaging Het
Zfp970 T C 2: 177,474,817 probably benign Het
Other mutations in Wbp2nl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00654:Wbp2nl APN 15 82314210 missense probably benign 0.03
IGL01074:Wbp2nl APN 15 82314290 missense possibly damaging 0.73
IGL01295:Wbp2nl APN 15 82306418 missense probably damaging 1.00
IGL01621:Wbp2nl APN 15 82308605 missense probably benign
IGL01735:Wbp2nl APN 15 82313816 missense probably benign
IGL01987:Wbp2nl APN 15 82308561 missense probably benign 0.03
IGL02426:Wbp2nl APN 15 82306173 missense probably damaging 1.00
IGL02971:Wbp2nl APN 15 82305744 missense possibly damaging 0.61
R0194:Wbp2nl UTSW 15 82314282 missense possibly damaging 0.93
R0242:Wbp2nl UTSW 15 82313787 missense probably benign
R0242:Wbp2nl UTSW 15 82313787 missense probably benign
R0909:Wbp2nl UTSW 15 82314074 missense probably benign 0.41
R1442:Wbp2nl UTSW 15 82314206 missense probably benign
R1753:Wbp2nl UTSW 15 82305744 missense probably damaging 0.97
R4085:Wbp2nl UTSW 15 82308561 missense probably benign 0.07
R4086:Wbp2nl UTSW 15 82308561 missense probably benign 0.07
R4087:Wbp2nl UTSW 15 82308561 missense probably benign 0.07
R4726:Wbp2nl UTSW 15 82306054 missense probably damaging 1.00
R4840:Wbp2nl UTSW 15 82314336 missense possibly damaging 0.96
R6338:Wbp2nl UTSW 15 82299045 missense possibly damaging 0.94
R6339:Wbp2nl UTSW 15 82299045 missense possibly damaging 0.94
R6820:Wbp2nl UTSW 15 82313795 missense possibly damaging 0.65
R7156:Wbp2nl UTSW 15 82305702 missense probably damaging 1.00
R7323:Wbp2nl UTSW 15 82314341 makesense probably null
R7598:Wbp2nl UTSW 15 82308561 missense probably benign 0.07
R7857:Wbp2nl UTSW 15 82306072 missense probably benign 0.24
R7903:Wbp2nl UTSW 15 82306131 nonsense probably null
Z1177:Wbp2nl UTSW 15 82308564 missense probably damaging 1.00
Posted On2015-12-18