Incidental Mutation 'IGL03121:Wipi2'
ID409970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wipi2
Ensembl Gene ENSMUSG00000029578
Gene NameWD repeat domain, phosphoinositide interacting 2
Synonyms1110018O08Rik, 2510001I10Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.811) question?
Stock #IGL03121
Quality Score
Status
Chromosome5
Chromosomal Location142627698-142670588 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 142663102 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 252 (E252K)
Ref Sequence ENSEMBL: ENSMUSP00000106405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036872] [ENSMUST00000110778]
Predicted Effect probably benign
Transcript: ENSMUST00000036872
AA Change: E252K

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000045201
Gene: ENSMUSG00000029578
AA Change: E252K

DomainStartEndE-ValueType
Blast:WD40 88 123 5e-14 BLAST
WD40 173 213 1.92e-1 SMART
WD40 216 258 1.99e0 SMART
WD40 298 340 4.75e1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000110778
AA Change: E252K

PolyPhen 2 Score 0.391 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000106405
Gene: ENSMUSG00000029578
AA Change: E252K

DomainStartEndE-ValueType
Blast:WD40 88 123 6e-14 BLAST
WD40 173 213 1.92e-1 SMART
WD40 216 258 1.99e0 SMART
WD40 298 340 4.75e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143980
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153936
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] WD40 repeat proteins are key components of many essential biologic functions. They regulate the assembly of multiprotein complexes by presenting a beta-propeller platform for simultaneous and reversible protein-protein interactions. Members of the WIPI subfamily of WD40 repeat proteins, such as WIPI2, have a 7-bladed propeller structure and contain a conserved motif for interaction with phospholipids (Proikas-Cezanne et al., 2004 [PubMed 15602573]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B09Rik A G 9: 14,761,650 S4P possibly damaging Het
A2m A G 6: 121,641,306 N186S probably benign Het
Ago1 T C 4: 126,460,003 K261R probably benign Het
Alas1 G A 9: 106,246,914 P15L probably damaging Het
Aox2 G A 1: 58,358,954 V1285M probably damaging Het
Brd8 A T 18: 34,606,687 F678I probably damaging Het
Col27a1 T A 4: 63,225,209 M378K probably benign Het
Dpy19l4 C A 4: 11,303,334 V196F probably damaging Het
Dst G T 1: 34,217,803 probably benign Het
Gm3106 T C 5: 94,221,053 V469A possibly damaging Het
Hsd17b1 T A 11: 101,080,044 Y275* probably null Het
Kdm3b A G 18: 34,795,709 E171G probably damaging Het
Klc1 T C 12: 111,781,642 probably benign Het
Mlkl G A 8: 111,314,980 R443W probably damaging Het
Mov10 A T 3: 104,801,002 V477E probably benign Het
Nacad A G 11: 6,600,933 S753P probably damaging Het
Ncapd2 A C 6: 125,173,612 M842R probably benign Het
Nkd2 C A 13: 73,821,379 A311S probably benign Het
Nrg1 A G 8: 31,824,580 probably benign Het
Olfr1310 A G 2: 112,008,608 Y193H probably benign Het
Olfr780 A G 10: 129,322,168 I182V probably benign Het
Pde6h A G 6: 136,959,282 S8G probably null Het
Pik3c2b A G 1: 133,079,745 K616E probably benign Het
Pnpt1 A T 11: 29,132,845 R54S probably benign Het
Rttn A G 18: 88,975,751 D184G probably damaging Het
Skint5 T A 4: 113,717,087 I756F unknown Het
Slc24a2 T C 4: 87,226,906 T304A probably benign Het
Spata5 T C 3: 37,464,651 I778T probably damaging Het
Stk3 A T 15: 35,099,426 probably benign Het
Trim69 A G 2: 122,167,647 I33M probably benign Het
Ube2q2 A T 9: 55,195,039 probably benign Het
Vmn1r67 T A 7: 10,447,467 N158K probably benign Het
Other mutations in Wipi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Wipi2 APN 5 142659149 missense probably damaging 1.00
IGL00737:Wipi2 APN 5 142666870 missense probably benign 0.00
IGL01388:Wipi2 APN 5 142661043 missense possibly damaging 0.82
IGL02523:Wipi2 APN 5 142661032 missense probably damaging 1.00
IGL02725:Wipi2 APN 5 142666863 missense possibly damaging 0.62
PIT4445001:Wipi2 UTSW 5 142666884 missense probably benign
R0677:Wipi2 UTSW 5 142658234 missense probably damaging 1.00
R1818:Wipi2 UTSW 5 142658208 missense probably damaging 1.00
R4670:Wipi2 UTSW 5 142659590 missense probably benign
R6414:Wipi2 UTSW 5 142655938 missense probably damaging 1.00
R6820:Wipi2 UTSW 5 142629800 missense probably benign 0.00
R7575:Wipi2 UTSW 5 142658232 missense probably damaging 1.00
Posted On2016-08-02