Incidental Mutation 'R6323:Wwp2'
ID 510204
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 044477-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R6323 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 108162997-108285227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 108267303 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 305 (H305L)
Ref Sequence ENSEMBL: ENSMUSP00000148679 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166615] [ENSMUST00000212205] [ENSMUST00000212543]
AlphaFold Q9DBH0
Predicted Effect probably damaging
Transcript: ENSMUST00000166615
AA Change: H351L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: H351L

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: ENSMUST00000212063
Predicted Effect probably damaging
Transcript: ENSMUST00000212205
AA Change: H305L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000212543
Meta Mutation Damage Score 0.9678 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 98% (40/41)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik A G 2: 68,436,568 (GRCm39) T171A unknown Het
Akr1c6 A G 13: 4,497,017 (GRCm39) K153R possibly damaging Het
Ano1 T A 7: 144,165,423 (GRCm39) I601F possibly damaging Het
Arfgef2 A G 2: 166,676,404 (GRCm39) Y8C probably damaging Het
Arhgef4 G A 1: 34,762,558 (GRCm39) A605T unknown Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz2a A G 10: 127,962,286 (GRCm39) I1816V probably benign Het
Cadps2 T A 6: 23,263,577 (GRCm39) T1294S probably benign Het
Casz1 T C 4: 149,026,161 (GRCm39) S952P possibly damaging Het
Cdc20 T C 4: 118,292,761 (GRCm39) N329S probably damaging Het
Ceacam1 A C 7: 25,174,076 (GRCm39) L193R probably damaging Het
Celf5 A G 10: 81,305,337 (GRCm39) S143P probably damaging Het
Cfap74 A G 4: 155,548,395 (GRCm39) D1342G possibly damaging Het
Chd5 C A 4: 152,451,791 (GRCm39) T701K probably damaging Het
Cpt1b C A 15: 89,303,266 (GRCm39) M596I probably benign Het
Ctrb1 A G 8: 112,416,223 (GRCm39) V21A probably benign Het
Diaph3 C T 14: 87,203,889 (GRCm39) V579I probably benign Het
Dlc1 T C 8: 37,405,537 (GRCm39) E84G possibly damaging Het
Dnajc14 A G 10: 128,643,359 (GRCm39) E427G probably damaging Het
Galns T C 8: 123,325,390 (GRCm39) D254G probably damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Gstm1 A G 3: 107,925,063 (GRCm39) V10A probably benign Het
Krt13 C A 11: 100,011,976 (GRCm39) A116S probably damaging Het
Lars2 A T 9: 123,270,659 (GRCm39) K584* probably null Het
Lrrc43 G T 5: 123,641,949 (GRCm39) G600W probably damaging Het
Madd G T 2: 90,991,783 (GRCm39) probably null Het
Mnat1 A G 12: 73,214,878 (GRCm39) D65G probably damaging Het
Nsmf A G 2: 24,945,063 (GRCm39) N42S possibly damaging Het
Or4k77 T C 2: 111,199,046 (GRCm39) L23P possibly damaging Het
Or5ac16 A G 16: 59,022,645 (GRCm39) L48P probably damaging Het
Palld A T 8: 62,173,727 (GRCm39) W311R probably damaging Het
Pax1 T A 2: 147,210,321 (GRCm39) V352E probably damaging Het
Rnf2 T C 1: 151,348,967 (GRCm39) K51R probably damaging Het
Rpl7l1 C A 17: 47,093,564 (GRCm39) probably benign Het
Slc1a6 G A 10: 78,648,721 (GRCm39) G481S probably damaging Het
Slc34a1 A G 13: 23,998,969 (GRCm39) I121V probably benign Het
Spata31h1 G A 10: 82,118,916 (GRCm39) T4698I probably benign Het
Trav6-1 T C 14: 52,876,248 (GRCm39) V56A possibly damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Vmn2r79 T A 7: 86,650,522 (GRCm39) C103S probably benign Het
Zfp593 A G 4: 133,972,224 (GRCm39) V94A probably benign 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
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
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'- AGCATAGGTCCTAGGTCATGTGC -3'
(R):5'- AGCAAGCCGTCTACACTGTG -3'

Sequencing Primer
(F):5'- CTCACTGTGGCCGAAGCAATTC -3'
(R):5'- TGCAAACACTACAGGTCAGGAGTC -3'
Posted On 2018-04-02