Incidental Mutation 'IGL02359:Wwp2'
ID 290430
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Wwp2
Ensembl Gene ENSMUSG00000031930
Gene Name WW domain containing E3 ubiquitin protein ligase 2
Synonyms AIP2, 1300010O06Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # IGL02359
Quality Score
Chromosome 8
Chromosomal Location 108162997-108285227 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 108267278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 297 (R297*)
Ref Sequence ENSEMBL: ENSMUSP00000148679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166615] [ENSMUST00000212205] [ENSMUST00000212543]
AlphaFold Q9DBH0
Predicted Effect probably null
Transcript: ENSMUST00000166615
AA Change: R343*
SMART Domains Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: R343*

C2 19 115 1.52e-6 SMART
low complexity region 188 208 N/A INTRINSIC
low complexity region 237 249 N/A INTRINSIC
WW 301 330 4.61e-8 SMART
WW 331 363 4.33e-13 SMART
WW 406 437 2.86e-13 SMART
WW 445 477 3.6e-10 SMART
HECTc 534 870 3.24e-201 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212063
Predicted Effect probably null
Transcript: ENSMUST00000212205
AA Change: R297*
Predicted Effect probably benign
Transcript: ENSMUST00000212543
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Nedd4 family of E3 ligases, which play an important role in protein ubiquitination. The encoded protein contains four WW domains and may play a role in multiple processes including chondrogenesis and the regulation of oncogenic signaling pathways via interactions with Smad proteins and the tumor suppressor PTEN. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 10. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit decreased body size, domed skull, short snout, twisted snout and overgrown mandibular incisors. Mice homozygous for a different knock-out allele exhibit increased sensitivity to pIpC-treatment. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930447C04Rik A C 12: 72,941,829 (GRCm39) probably null Het
Abca5 T A 11: 110,166,156 (GRCm39) N1540I probably benign Het
Adamtsl5 T A 10: 80,179,562 (GRCm39) probably null Het
Aldh2 T C 5: 121,713,960 (GRCm39) E128G probably null Het
Ano3 A T 2: 110,715,288 (GRCm39) L50* probably null Het
Atp13a3 A G 16: 30,169,902 (GRCm39) I392T probably damaging Het
C1qtnf5 A G 9: 44,019,631 (GRCm39) E85G possibly damaging Het
Cacna1s A T 1: 136,020,990 (GRCm39) probably benign Het
Ccdc150 G A 1: 54,311,680 (GRCm39) R222H probably benign Het
Cep55 T A 19: 38,058,316 (GRCm39) I303N probably damaging Het
Cmip A T 8: 118,137,994 (GRCm39) probably benign Het
Cyp21a1 A G 17: 35,023,196 (GRCm39) Y60H probably damaging Het
Cyp2d11 A G 15: 82,278,121 (GRCm39) W10R possibly damaging Het
Dock10 A G 1: 80,483,378 (GRCm39) Y2076H probably damaging Het
Dpcd G T 19: 45,565,493 (GRCm39) A156S probably benign Het
Egflam T C 15: 7,263,706 (GRCm39) N748S probably benign Het
Fam227b A G 2: 125,988,174 (GRCm39) probably benign Het
Fancd2 T A 6: 113,540,073 (GRCm39) I654N probably damaging Het
Hpf1 A G 8: 61,349,836 (GRCm39) I155V probably benign Het
Hrh1 C A 6: 114,457,404 (GRCm39) N228K probably benign Het
Igkv3-2 T C 6: 70,675,474 (GRCm39) L8P probably damaging Het
Iqgap3 T C 3: 88,009,267 (GRCm39) F734L probably benign Het
Kif5a T C 10: 127,079,370 (GRCm39) Y276C probably damaging Het
Lax1 A T 1: 133,608,208 (GRCm39) S178T possibly damaging Het
Marchf6 C T 15: 31,509,905 (GRCm39) C28Y probably damaging Het
Mylk3 T C 8: 86,081,931 (GRCm39) T356A probably benign Het
Or2l13 T C 16: 19,305,927 (GRCm39) L113P probably damaging Het
Pate7 A T 9: 35,689,180 (GRCm39) M1K probably null Het
Pgap2 G T 7: 101,885,346 (GRCm39) V71F probably damaging Het
Prob1 T G 18: 35,785,893 (GRCm39) E787A possibly damaging Het
Psmd2 C A 16: 20,475,691 (GRCm39) D430E probably benign Het
Reln C A 5: 22,244,563 (GRCm39) G805V possibly damaging Het
Serpinb9e A T 13: 33,441,803 (GRCm39) probably benign Het
Sgsm2 G T 11: 74,782,900 (GRCm39) probably benign Het
Slc38a9 A G 13: 112,826,720 (GRCm39) I153V probably benign Het
Slco1b2 T A 6: 141,631,251 (GRCm39) D628E probably damaging Het
Sult2a5 T C 7: 13,362,727 (GRCm39) S145P probably benign Het
Sv2b T C 7: 74,786,197 (GRCm39) T408A probably benign Het
Usp24 T C 4: 106,261,122 (GRCm39) C1626R probably damaging Het
Wdr43 C T 17: 71,939,043 (GRCm39) T217M possibly damaging Het
Wdr95 G A 5: 149,504,084 (GRCm39) V155M probably damaging Het
Wsb1 G A 11: 79,141,838 (GRCm39) L60F probably damaging Het
Xkr6 T C 14: 64,057,156 (GRCm39) Y356H unknown Het
Other mutations in Wwp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Wwp2 APN 8 108,259,923 (GRCm39) critical splice donor site probably null
IGL01411:Wwp2 APN 8 108,232,977 (GRCm39) missense probably benign 0.07
IGL01503:Wwp2 APN 8 108,276,413 (GRCm39) missense probably damaging 0.97
IGL01543:Wwp2 APN 8 108,210,000 (GRCm39) missense probably damaging 1.00
IGL01998:Wwp2 APN 8 108,276,153 (GRCm39) missense probably damaging 1.00
IGL02020:Wwp2 APN 8 108,283,127 (GRCm39) missense probably damaging 1.00
IGL02089:Wwp2 APN 8 108,280,689 (GRCm39) missense probably damaging 1.00
IGL02131:Wwp2 APN 8 108,278,950 (GRCm39) missense probably damaging 0.99
IGL02352:Wwp2 APN 8 108,267,278 (GRCm39) nonsense probably null
IGL02419:Wwp2 APN 8 108,276,447 (GRCm39) missense probably damaging 1.00
IGL02528:Wwp2 APN 8 108,281,099 (GRCm39) missense probably benign 0.06
R0639:Wwp2 UTSW 8 108,244,578 (GRCm39) missense probably benign 0.01
R0834:Wwp2 UTSW 8 108,283,428 (GRCm39) splice site probably benign
R1573:Wwp2 UTSW 8 108,275,121 (GRCm39) missense probably damaging 1.00
R1653:Wwp2 UTSW 8 108,210,042 (GRCm39) missense possibly damaging 0.49
R1782:Wwp2 UTSW 8 108,233,031 (GRCm39) frame shift probably null
R1941:Wwp2 UTSW 8 108,244,547 (GRCm39) missense probably benign
R2483:Wwp2 UTSW 8 108,275,167 (GRCm39) missense probably damaging 1.00
R4014:Wwp2 UTSW 8 108,212,253 (GRCm39) missense probably benign 0.03
R4118:Wwp2 UTSW 8 108,272,091 (GRCm39) missense probably benign 0.00
R4402:Wwp2 UTSW 8 108,184,610 (GRCm39) missense probably benign 0.08
R5042:Wwp2 UTSW 8 108,275,117 (GRCm39) missense possibly damaging 0.95
R5117:Wwp2 UTSW 8 108,280,694 (GRCm39) missense possibly damaging 0.86
R5413:Wwp2 UTSW 8 108,281,710 (GRCm39) missense probably damaging 1.00
R6175:Wwp2 UTSW 8 108,210,039 (GRCm39) missense possibly damaging 0.95
R6232:Wwp2 UTSW 8 108,232,977 (GRCm39) missense probably benign 0.03
R6323:Wwp2 UTSW 8 108,267,303 (GRCm39) missense probably damaging 1.00
R6759:Wwp2 UTSW 8 108,267,314 (GRCm39) missense probably damaging 1.00
R6941:Wwp2 UTSW 8 108,275,134 (GRCm39) missense probably damaging 1.00
R7043:Wwp2 UTSW 8 108,184,532 (GRCm39) missense probably benign 0.00
R7109:Wwp2 UTSW 8 108,209,988 (GRCm39) missense probably benign 0.28
R7457:Wwp2 UTSW 8 108,244,592 (GRCm39) missense probably benign 0.05
R8027:Wwp2 UTSW 8 108,282,109 (GRCm39) missense probably damaging 1.00
R8704:Wwp2 UTSW 8 108,212,228 (GRCm39) missense probably benign
R8796:Wwp2 UTSW 8 108,283,189 (GRCm39) missense probably null 1.00
R8844:Wwp2 UTSW 8 108,210,048 (GRCm39) missense probably damaging 1.00
R9627:Wwp2 UTSW 8 108,278,959 (GRCm39) missense probably damaging 1.00
X0066:Wwp2 UTSW 8 108,244,655 (GRCm39) missense probably benign
Z1088:Wwp2 UTSW 8 108,281,719 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16