Incidental Mutation 'R1782:Wwp2'
ID 195394
Institutional Source Beutler Lab
Gene Symbol Wwp2
Ensembl Gene ENSMUSG00000031930
Gene Name WW domain containing E3 ubiquitin protein ligase 2
Synonyms AIP2, 1300010O06Rik
MMRRC Submission 039813-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R1782 (G1)
Quality Score 216
Status Not validated
Chromosome 8
Chromosomal Location 108162997-108285227 bp(+) (GRCm39)
Type of Mutation frame shift
DNA Base Change (assembly) AGAACT to A at 108233031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166615] [ENSMUST00000212205]
AlphaFold Q9DBH0
Predicted Effect probably null
Transcript: ENSMUST00000166615
SMART Domains Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930

DomainStartEndE-ValueType
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: ENSMUST00000212012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212063
Predicted Effect probably null
Transcript: ENSMUST00000212205
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212906
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,247,971 (GRCm39) T2573S probably benign Het
Adgra3 G T 5: 50,129,404 (GRCm39) T738K probably benign Het
Adgrl4 C T 3: 151,248,442 (GRCm39) Q705* probably null Het
Atp2b1 T G 10: 98,839,063 (GRCm39) D630E probably benign Het
Atp2c1 G A 9: 105,308,786 (GRCm39) R577C probably damaging Het
Atp9b A G 18: 80,809,137 (GRCm39) V211A probably damaging Het
C8g T A 2: 25,389,094 (GRCm39) D163V possibly damaging Het
Catsper1 T C 19: 5,385,937 (GRCm39) Y57H probably benign Het
Ccdc25 C T 14: 66,091,597 (GRCm39) A72V probably benign Het
Cdca2 T G 14: 67,915,260 (GRCm39) E666D probably benign Het
Cdh23 G A 10: 60,324,321 (GRCm39) T313I probably damaging Het
Cfap57 C A 4: 118,472,172 (GRCm39) R69L probably damaging Het
Chat C A 14: 32,130,944 (GRCm39) V566L probably damaging Het
Cntn3 T C 6: 102,250,772 (GRCm39) I259V probably damaging Het
Cog1 A G 11: 113,544,792 (GRCm39) T325A probably benign Het
Cxcl10 A G 5: 92,495,662 (GRCm39) *94Q probably null Het
Cyp4a12b T C 4: 115,291,178 (GRCm39) Y369H probably damaging Het
Dhx33 T C 11: 70,892,466 (GRCm39) Y101C probably damaging Het
Dock6 A G 9: 21,723,142 (GRCm39) M1593T probably damaging Het
Dpy19l3 T C 7: 35,407,580 (GRCm39) T488A possibly damaging Het
Elapor2 A T 5: 9,471,620 (GRCm39) K320N possibly damaging Het
Fbxw14 A G 9: 109,107,759 (GRCm39) I205T possibly damaging Het
Fbxw7 T C 3: 84,811,126 (GRCm39) F84L probably benign Het
Flii T C 11: 60,605,462 (GRCm39) T1212A probably benign Het
Fosl1 T A 19: 5,500,210 (GRCm39) I43N probably damaging Het
Gabrr2 G A 4: 33,085,593 (GRCm39) A338T probably damaging Het
Gask1b T C 3: 79,793,838 (GRCm39) L102S possibly damaging Het
Gatad2b T C 3: 90,249,178 (GRCm39) V72A probably benign Het
Gorasp1 G T 9: 119,761,888 (GRCm39) N48K probably damaging Het
Gramd1b C A 9: 40,324,633 (GRCm39) D139Y probably damaging Het
Gtf3c1 A T 7: 125,266,246 (GRCm39) V1030E probably damaging Het
Havcr2 C T 11: 46,345,844 (GRCm39) T6I unknown Het
Hgs A G 11: 120,369,331 (GRCm39) E340G probably damaging Het
Irx2 A G 13: 72,779,585 (GRCm39) T290A probably benign Het
Itgb8 T A 12: 119,155,853 (GRCm39) I200F probably damaging Het
Josd2 A G 7: 44,120,577 (GRCm39) I105V probably damaging Het
Kcnh7 T A 2: 62,566,513 (GRCm39) D806V probably damaging Het
Kctd8 A G 5: 69,498,319 (GRCm39) V109A possibly damaging Het
Kmt2d T A 15: 98,755,429 (GRCm39) probably benign Het
Krtap2-4 A T 11: 99,505,353 (GRCm39) V86E probably damaging Het
Lgr6 C G 1: 134,915,717 (GRCm39) V344L probably damaging Het
Lime1 A T 2: 181,024,849 (GRCm39) R168W possibly damaging Het
Macroh2a1 A T 13: 56,222,134 (GRCm39) M339K probably damaging Het
Magel2 C T 7: 62,030,605 (GRCm39) Q1170* probably null Het
Ndufaf3 A T 9: 108,443,210 (GRCm39) I169N probably damaging Het
Neb T A 2: 52,174,357 (GRCm39) K1501* probably null Het
Nim1k A T 13: 120,173,687 (GRCm39) S402R probably benign Het
Nt5dc2 T G 14: 30,860,158 (GRCm39) S395R probably damaging Het
Oaz2 G T 9: 65,596,143 (GRCm39) V132L probably benign Het
Or2t45 T A 11: 58,669,631 (GRCm39) L226H probably damaging Het
Or4l1 A T 14: 50,166,096 (GRCm39) W302R probably benign Het
Or5b104 T A 19: 13,072,167 (GRCm39) I282F probably damaging Het
Or7g25 C T 9: 19,159,877 (GRCm39) V273I probably benign Het
Or8k39 T C 2: 86,563,026 (GRCm39) K310R probably benign Het
Pfkl A G 10: 77,824,554 (GRCm39) V717A probably benign Het
Phf8-ps T C 17: 33,286,662 (GRCm39) I47V probably benign Het
Phgdh C T 3: 98,228,063 (GRCm39) V231I probably damaging Het
Pkhd1 A T 1: 20,635,935 (GRCm39) M465K probably damaging Het
Ppp3r1 A G 11: 17,148,281 (GRCm39) H163R probably benign Het
Prune2 T A 19: 17,099,537 (GRCm39) N1680K probably benign Het
Puf60 T A 15: 75,943,724 (GRCm39) I216L probably benign Het
Rev3l T A 10: 39,675,881 (GRCm39) N190K probably benign Het
Rp1 G A 1: 4,419,312 (GRCm39) S600L probably benign Het
Rpl3l A G 17: 24,952,430 (GRCm39) I217V probably benign Het
Scly T A 1: 91,236,102 (GRCm39) V194D probably damaging Het
Scnn1b A G 7: 121,517,184 (GRCm39) T607A probably benign Het
Slc13a3 G A 2: 165,287,439 (GRCm39) L172F probably benign Het
Sorbs2 A G 8: 46,258,733 (GRCm39) Y1090C probably damaging Het
Spag17 T A 3: 99,918,070 (GRCm39) M351K probably benign Het
St14 A G 9: 31,011,460 (GRCm39) Y444H probably damaging Het
Taf8 C A 17: 47,809,136 (GRCm39) A109S probably benign Het
Tbc1d30 T A 10: 121,103,525 (GRCm39) K502N probably damaging Het
Them5 T C 3: 94,251,796 (GRCm39) S136P probably benign Het
Tmem248 T A 5: 130,260,769 (GRCm39) N111K probably damaging Het
Tmem74 C A 15: 43,730,348 (GRCm39) V232L probably damaging Het
Tnip2 A T 5: 34,657,012 (GRCm39) H264Q probably benign Het
Trim5 A G 7: 103,915,023 (GRCm39) probably null Het
Trim63 A G 4: 134,050,349 (GRCm39) Q211R probably benign Het
Trrap T C 5: 144,759,513 (GRCm39) V2231A possibly damaging Het
Ttn T C 2: 76,565,831 (GRCm39) S28174G probably benign Het
Ugt2b36 T C 5: 87,229,440 (GRCm39) D341G possibly damaging Het
Uroc1 G A 6: 90,313,901 (GRCm39) E63K probably damaging Het
Ush2a T C 1: 188,643,382 (GRCm39) V4248A probably benign Het
Usp1 A G 4: 98,822,435 (GRCm39) H583R probably damaging Het
Usp8 T A 2: 126,561,971 (GRCm39) F55Y probably damaging Het
Vmn2r13 T A 5: 109,306,040 (GRCm39) T513S probably benign Het
Wdr73 T C 7: 80,541,526 (GRCm39) T339A probably damaging Het
Wnt2 T A 6: 18,008,639 (GRCm39) N266I possibly damaging 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
IGL02359: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
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
Predicted Primers PCR Primer
(F):5'- TGCTCAGAGCCAGCGCCTATTAAG -3'
(R):5'- GCAGTGGACTCAAATGCACACAAG -3'

Sequencing Primer
(F):5'- GCGCCTATTAAGTGAAAAGCTG -3'
(R):5'- TCAAATGCACACAAGTGCTGG -3'
Posted On 2014-05-23