Incidental Mutation 'IGL01998:Wwp2'
ID 182960
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
Is this an essential gene? Possibly non essential (E-score: 0.263) question?
Stock # IGL01998
Quality Score
Status
Chromosome 8
Chromosomal Location 107436365-107558595 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 107549521 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 64 (R64C)
Ref Sequence ENSEMBL: ENSMUSP00000148813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166615] [ENSMUST00000212205] [ENSMUST00000212543]
AlphaFold Q9DBH0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083505
Predicted Effect probably damaging
Transcript: ENSMUST00000166615
AA Change: R503C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: R503C

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: R457C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000212543
AA Change: R64C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212993
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,194,179 D205E probably benign Het
4930435E12Rik A T 16: 38,828,224 D174E probably benign Het
4932438A13Rik T C 3: 36,957,016 S1788P possibly damaging Het
Arpc3 T C 5: 122,403,407 C78R probably damaging Het
Atp6v0b A G 4: 117,886,066 probably null Het
B3gnt8 A G 7: 25,628,778 Y211C probably damaging Het
Birc6 T C 17: 74,579,885 I736T probably benign Het
Bpifb9a T C 2: 154,268,200 probably null Het
C3ar1 A T 6: 122,850,940 M106K probably damaging Het
Cab39l T A 14: 59,496,895 L21Q probably damaging Het
Casp1 A T 9: 5,303,043 I166F probably damaging Het
Cd180 A G 13: 102,705,214 E256G probably damaging Het
Clca4a T C 3: 144,958,126 T519A probably damaging Het
Clstn3 A T 6: 124,458,663 L233Q probably damaging Het
Crlf3 G A 11: 80,058,019 probably benign Het
Depdc5 T C 5: 32,945,151 probably benign Het
Drc7 T A 8: 95,059,193 C226S probably damaging Het
Epha5 T A 5: 84,084,734 D807V probably damaging Het
Fat2 A G 11: 55,296,195 L1275P probably benign Het
Fv1 T C 4: 147,869,327 C117R possibly damaging Het
Ighg2b C A 12: 113,307,089 M140I unknown Het
Klra5 A T 6: 129,906,713 Y60* probably null Het
Lmtk2 C T 5: 144,176,065 T1201I probably damaging Het
Ncapd2 A T 6: 125,169,933 L1230H probably damaging Het
Ncapd2 A T 6: 125,173,115 S917T probably benign Het
Nfx1 T A 4: 41,004,353 I708N probably damaging Het
Notch2 A T 3: 98,143,106 D1899V probably damaging Het
Npepl1 T A 2: 174,116,200 probably benign Het
Nps T A 7: 135,268,752 probably benign Het
Nrg1 T C 8: 31,918,134 S24G probably damaging Het
Olfr330 A T 11: 58,529,577 Y136* probably null Het
Olfr352 A G 2: 36,869,646 N27D probably benign Het
Olfr698 G A 7: 106,752,551 T279M possibly damaging Het
Olfr730 C A 14: 50,186,648 V190L probably benign Het
Pigx G T 16: 32,084,610 T211K probably benign Het
Pink1 A G 4: 138,320,742 I223T probably damaging Het
Plat G A 8: 22,767,147 A15T probably benign Het
Ptges2 G A 2: 32,401,530 A310T possibly damaging Het
Rsl1d1 A G 16: 11,194,645 S306P possibly damaging Het
Rxfp1 T C 3: 79,660,096 K316E probably benign Het
Scn10a A G 9: 119,609,676 I1708T probably damaging Het
Sdk2 A T 11: 113,838,532 F1073Y probably damaging Het
Sp100 A G 1: 85,666,929 D170G probably benign Het
Spock1 A T 13: 57,436,181 probably benign Het
Strbp A G 2: 37,625,285 L243P probably damaging Het
Tgm5 T A 2: 121,052,439 T446S probably damaging Het
Tmem59l C T 8: 70,484,781 V239I probably benign Het
Trav8-1 A T 14: 53,470,205 T101S probably benign Het
Triml1 T C 8: 43,141,313 D27G probably damaging Het
Vmn2r54 T C 7: 12,615,300 E785G probably benign Het
Vps13c A G 9: 67,955,068 probably null Het
Zfp608 T C 18: 54,891,818 H1460R probably damaging Het
Other mutations in Wwp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01383:Wwp2 APN 8 107533291 critical splice donor site probably null
IGL01411:Wwp2 APN 8 107506345 missense probably benign 0.07
IGL01503:Wwp2 APN 8 107549781 missense probably damaging 0.97
IGL01543:Wwp2 APN 8 107483368 missense probably damaging 1.00
IGL02020:Wwp2 APN 8 107556495 missense probably damaging 1.00
IGL02089:Wwp2 APN 8 107554057 missense probably damaging 1.00
IGL02131:Wwp2 APN 8 107552318 missense probably damaging 0.99
IGL02352:Wwp2 APN 8 107540646 nonsense probably null
IGL02359:Wwp2 APN 8 107540646 nonsense probably null
IGL02419:Wwp2 APN 8 107549815 missense probably damaging 1.00
IGL02528:Wwp2 APN 8 107554467 missense probably benign 0.06
R0639:Wwp2 UTSW 8 107517946 missense probably benign 0.01
R0834:Wwp2 UTSW 8 107556796 splice site probably benign
R1573:Wwp2 UTSW 8 107548489 missense probably damaging 1.00
R1653:Wwp2 UTSW 8 107483410 missense possibly damaging 0.49
R1782:Wwp2 UTSW 8 107506399 frame shift probably null
R1941:Wwp2 UTSW 8 107517915 missense probably benign
R2483:Wwp2 UTSW 8 107548535 missense probably damaging 1.00
R4014:Wwp2 UTSW 8 107485621 missense probably benign 0.03
R4118:Wwp2 UTSW 8 107545459 missense probably benign 0.00
R4402:Wwp2 UTSW 8 107457978 missense probably benign 0.08
R5042:Wwp2 UTSW 8 107548485 missense possibly damaging 0.95
R5117:Wwp2 UTSW 8 107554062 missense possibly damaging 0.86
R5413:Wwp2 UTSW 8 107555078 missense probably damaging 1.00
R6175:Wwp2 UTSW 8 107483407 missense possibly damaging 0.95
R6232:Wwp2 UTSW 8 107506345 missense probably benign 0.03
R6323:Wwp2 UTSW 8 107540671 missense probably damaging 1.00
R6759:Wwp2 UTSW 8 107540682 missense probably damaging 1.00
R6941:Wwp2 UTSW 8 107548502 missense probably damaging 1.00
R7043:Wwp2 UTSW 8 107457900 missense probably benign 0.00
R7109:Wwp2 UTSW 8 107483356 missense probably benign 0.28
R7457:Wwp2 UTSW 8 107517960 missense probably benign 0.05
R8027:Wwp2 UTSW 8 107555477 missense probably damaging 1.00
R8704:Wwp2 UTSW 8 107485596 missense probably benign
R8796:Wwp2 UTSW 8 107556557 missense probably null 1.00
R8844:Wwp2 UTSW 8 107483416 missense probably damaging 1.00
R9627:Wwp2 UTSW 8 107552327 missense probably damaging 1.00
X0066:Wwp2 UTSW 8 107518023 missense probably benign
Z1088:Wwp2 UTSW 8 107555087 missense probably damaging 1.00
Posted On 2014-05-07