Incidental Mutation 'R6820:Wipi2'
ID 537562
Institutional Source Beutler Lab
Gene Symbol Wipi2
Ensembl Gene ENSMUSG00000029578
Gene Name WD repeat domain, phosphoinositide interacting 2
Synonyms 2510001I10Rik, 1110018O08Rik
MMRRC Submission 044932-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R6820 (G1)
Quality Score 177.009
Status Validated
Chromosome 5
Chromosomal Location 142615269-142655427 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 142615555 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 14 (Q14H)
Ref Sequence ENSEMBL: ENSMUSP00000045201 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036872] [ENSMUST00000110778]
AlphaFold Q80W47
Predicted Effect probably benign
Transcript: ENSMUST00000036872
AA Change: Q14H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000045201
Gene: ENSMUSG00000029578
AA Change: Q14H

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: Q14H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000106405
Gene: ENSMUSG00000029578
AA Change: Q14H

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
Meta Mutation Damage Score 0.0625 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 98% (46/47)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T A 2: 93,673,266 (GRCm39) N141Y probably null Het
Chkb A G 15: 89,312,379 (GRCm39) L46P probably damaging Het
Col9a3 G A 2: 180,248,927 (GRCm39) V260M probably damaging Het
Dna2 T C 10: 62,800,683 (GRCm39) I739T possibly damaging Het
Dnah17 T C 11: 117,959,826 (GRCm39) H2620R probably damaging Het
Dsel A G 1: 111,787,547 (GRCm39) V996A probably damaging Het
Dst T C 1: 34,250,337 (GRCm39) L1757S probably damaging Het
Exoc5 A T 14: 49,286,387 (GRCm39) probably null Het
Fam120a A T 13: 49,034,468 (GRCm39) V1048E possibly damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Fbxw19 T A 9: 109,311,079 (GRCm39) T377S probably benign Het
Fbxw28 A T 9: 109,167,493 (GRCm39) F88Y probably damaging Het
Grik5 C T 7: 24,745,780 (GRCm39) R431Q possibly damaging Het
Gtsf1 T C 15: 103,328,954 (GRCm39) T92A probably benign Het
Hoxc13 A G 15: 102,830,257 (GRCm39) Y212C probably damaging Het
Itih2 T C 2: 10,102,909 (GRCm39) I742V probably benign Het
Kat7 T C 11: 95,174,965 (GRCm39) T351A probably damaging Het
Mlh3 T C 12: 85,294,497 (GRCm39) D1233G probably damaging Het
Mroh2b A G 15: 4,982,756 (GRCm39) D1525G probably damaging Het
Nme5 T C 18: 34,704,626 (GRCm39) Y73C probably damaging Het
Nr3c2 T C 8: 77,969,086 (GRCm39) V957A probably damaging Het
Nup153 A G 13: 46,863,459 (GRCm39) S301P probably benign Het
Obscn T C 11: 58,942,019 (GRCm39) D5013G probably damaging Het
Or4f54 C T 2: 111,123,455 (GRCm39) P281S probably damaging Het
Or5p51 A G 7: 107,444,298 (GRCm39) V214A probably benign Het
Or8g51 A G 9: 38,608,771 (GRCm39) V297A possibly damaging Het
Pak1 A G 7: 97,535,586 (GRCm39) N226D probably benign Het
Pak4 A G 7: 28,262,461 (GRCm39) Y384H probably benign Het
Pkp3 T C 7: 140,659,757 (GRCm39) probably null Het
Prxl2b A T 4: 154,982,623 (GRCm39) D50E probably damaging Het
Psd G T 19: 46,309,283 (GRCm39) A558E probably damaging Het
Psmd14 C A 2: 61,607,068 (GRCm39) H172N probably benign Het
Pygb G T 2: 150,658,674 (GRCm39) W366L possibly damaging Het
Rbm39 A T 2: 156,021,146 (GRCm39) M1K probably null Het
Rnf213 T C 11: 119,339,664 (GRCm39) I3421T probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Smg6 T C 11: 74,932,790 (GRCm39) V88A probably damaging Het
Tha1 T C 11: 117,762,504 (GRCm39) E80G probably benign Het
Tie1 A G 4: 118,341,583 (GRCm39) V243A probably damaging Het
Tmem215 T C 4: 40,473,926 (GRCm39) M1T probably null Het
Tpm2 A G 4: 43,518,443 (GRCm39) Y221H probably damaging Het
Ubap1 C T 4: 41,379,854 (GRCm39) P356L probably benign Het
Wbp2nl G T 15: 82,197,996 (GRCm39) A178S possibly damaging Het
Wdr54 A T 6: 83,131,601 (GRCm39) S139T probably benign Het
Zan T C 5: 137,406,106 (GRCm39) probably benign Het
Zfp735 A G 11: 73,579,783 (GRCm39) M1V probably null Het
Other mutations in Wipi2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00679:Wipi2 APN 5 142,644,904 (GRCm39) missense probably damaging 1.00
IGL00737:Wipi2 APN 5 142,652,625 (GRCm39) missense probably benign 0.00
IGL01388:Wipi2 APN 5 142,646,798 (GRCm39) missense possibly damaging 0.82
IGL02523:Wipi2 APN 5 142,646,787 (GRCm39) missense probably damaging 1.00
IGL02725:Wipi2 APN 5 142,652,618 (GRCm39) missense possibly damaging 0.62
IGL03121:Wipi2 APN 5 142,648,857 (GRCm39) missense probably benign 0.39
PIT4445001:Wipi2 UTSW 5 142,652,639 (GRCm39) missense probably benign
R0677:Wipi2 UTSW 5 142,643,989 (GRCm39) missense probably damaging 1.00
R1818:Wipi2 UTSW 5 142,643,963 (GRCm39) missense probably damaging 1.00
R4670:Wipi2 UTSW 5 142,645,345 (GRCm39) missense probably benign
R6414:Wipi2 UTSW 5 142,641,693 (GRCm39) missense probably damaging 1.00
R7575:Wipi2 UTSW 5 142,643,987 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGCGCACCTTTATGCATGC -3'
(R):5'- ACTTTGCGAAAGGCCAGGTC -3'

Sequencing Primer
(F):5'- ATGAGGCGGCAGTTGGTCC -3'
(R):5'- AAGGCCAGGTCTCAGGAC -3'
Posted On 2018-10-18