Incidental Mutation 'IGL02523:Wipi2'
ID296937
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: 0.895) question?
Stock #IGL02523
Quality Score
Status
Chromosome5
Chromosomal Location142627698-142670588 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 142661032 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 208 (V208E)
Ref Sequence ENSEMBL: ENSMUSP00000045201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036872] [ENSMUST00000110778]
Predicted Effect probably damaging
Transcript: ENSMUST00000036872
AA Change: V208E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000045201
Gene: ENSMUSG00000029578
AA Change: V208E

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 damaging
Transcript: ENSMUST00000110778
AA Change: V208E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106405
Gene: ENSMUSG00000029578
AA Change: V208E

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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asah1 T C 8: 41,351,947 D109G probably benign Het
Ces2c C A 8: 104,848,114 P68T probably damaging Het
Csl G A 10: 99,758,813 T130I probably benign Het
Cyp2g1 C T 7: 26,819,187 R376W probably damaging Het
Ddb1 T C 19: 10,627,632 L1029P probably damaging Het
Dennd4c T C 4: 86,774,253 probably benign Het
Eya2 C T 2: 165,754,436 probably benign Het
Fars2 G T 13: 36,204,693 G55V probably damaging Het
Fcgbp C A 7: 28,104,732 A1755E possibly damaging Het
Ggt7 T A 2: 155,514,703 E32V probably damaging Het
Heg1 C A 16: 33,738,622 T1071K probably damaging Het
Hpca A G 4: 129,118,575 F56S probably damaging Het
Hyal4 T A 6: 24,765,969 Y441N probably damaging Het
Igsf8 T A 1: 172,319,413 probably benign Het
Ints13 A G 6: 146,557,611 S301P probably benign Het
Krt33a G A 11: 100,011,692 T374I probably benign Het
Nav3 T C 10: 109,769,296 D972G probably damaging Het
Npc1 T C 18: 12,201,572 T708A probably benign Het
Olfr1113 A T 2: 87,213,320 N143Y probably benign Het
Olfr214 A T 6: 116,557,093 I223L probably benign Het
Olfr355 T C 2: 36,927,955 D53G probably damaging Het
Olfr62 A T 4: 118,666,041 N175Y probably benign Het
P2rx2 A G 5: 110,342,042 S87P probably damaging Het
Pdxdc1 A T 16: 13,881,935 L62H probably damaging Het
Plekhj1 A T 10: 80,797,849 probably null Het
Ptbp2 A T 3: 119,740,487 Y244* probably null Het
Ralbp1 T C 17: 65,859,091 E366G probably damaging Het
Rergl T A 6: 139,496,460 probably benign Het
Slc25a45 T A 19: 5,884,609 probably null Het
Spop G A 11: 95,485,921 D267N possibly damaging Het
Tars2 T C 3: 95,741,393 D625G probably damaging Het
Tlk2 A G 11: 105,275,947 K593R probably damaging Het
Tlr3 T A 8: 45,398,391 probably null Het
Tmem205 C T 9: 21,921,288 R109H probably benign Het
Tmem41b A G 7: 109,982,728 I56T probably damaging Het
Ube2q2 T C 9: 55,191,879 V168A probably damaging Het
Ufsp2 T A 8: 45,983,548 M112K probably damaging Het
Xkr9 A G 1: 13,684,250 E156G 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
IGL02725:Wipi2 APN 5 142666863 missense possibly damaging 0.62
IGL03121:Wipi2 APN 5 142663102 missense probably benign 0.39
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 On2015-04-16