Incidental Mutation 'R5042:Wwp2'
ID 393261
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 042632-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R5042 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 108162997-108285227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108275117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 417 (N417K)
Ref Sequence ENSEMBL: ENSMUSP00000132224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166615] [ENSMUST00000212205] [ENSMUST00000212543]
AlphaFold Q9DBH0
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083505
Predicted Effect possibly damaging
Transcript: ENSMUST00000166615
AA Change: N417K

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: N417K

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 benign
Transcript: ENSMUST00000212205
AA Change: N371K

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
Predicted Effect probably benign
Transcript: ENSMUST00000212543
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212559
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212993
Meta Mutation Damage Score 0.1006 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 89.8%
Validation Efficiency 100% (57/57)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik T A 7: 29,273,927 (GRCm39) noncoding transcript Het
4933413J09Rik C A 14: 26,097,436 (GRCm39) noncoding transcript Het
Aldh1a2 A G 9: 71,192,286 (GRCm39) I413V possibly damaging Het
Alpk2 C T 18: 65,483,579 (GRCm39) W143* probably null Het
Anpep G T 7: 79,489,217 (GRCm39) N318K probably benign Het
Art5 A T 7: 101,748,672 (GRCm39) L10H probably damaging Het
Atg2b T G 12: 105,587,521 (GRCm39) H1981P probably benign Het
B3gnt3 T C 8: 72,145,532 (GRCm39) T279A probably damaging Het
Bmp10 G T 6: 87,411,039 (GRCm39) E277D probably damaging Het
Ccdc180 A G 4: 45,916,255 (GRCm39) T191A probably damaging Het
Dars2 T A 1: 160,872,664 (GRCm39) probably benign Het
F5 T A 1: 164,047,020 (GRCm39) I2160N probably damaging Het
Fndc7 A T 3: 108,770,102 (GRCm39) V608D probably damaging Het
Gad1-ps A T 10: 99,281,516 (GRCm39) noncoding transcript Het
Gbp2b A G 3: 142,317,224 (GRCm39) K527E probably benign Het
Gm10719 T A 9: 3,018,970 (GRCm39) F72I probably damaging Het
Hes3 T A 4: 152,371,500 (GRCm39) S150C possibly damaging Het
Hp1bp3 T A 4: 137,949,419 (GRCm39) M1K probably null Het
Il17rd T A 14: 26,817,998 (GRCm39) V229E probably damaging Het
Iqch A G 9: 63,403,516 (GRCm39) M634T possibly damaging Het
Magel2 C T 7: 62,029,354 (GRCm39) R753W unknown Het
Med26 A G 8: 73,250,919 (GRCm39) V60A probably damaging Het
Myo1d T A 11: 80,448,347 (GRCm39) D926V probably damaging Het
Nat1 T G 8: 67,944,228 (GRCm39) D201E probably benign Het
Nav3 G T 10: 109,605,129 (GRCm39) S981R probably benign Het
Nbn C A 4: 15,981,446 (GRCm39) L513M probably benign Het
Nfatc3 T C 8: 106,834,757 (GRCm39) V701A probably benign Het
Nlrp9a A G 7: 26,270,703 (GRCm39) D911G probably damaging Het
Npr2 A T 4: 43,647,002 (GRCm39) I712F probably damaging Het
Oplah G A 15: 76,189,909 (GRCm39) R235* probably null Het
Or10a48 A G 7: 108,424,678 (GRCm39) I176T possibly damaging Het
Pcdha11 T A 18: 37,144,649 (GRCm39) Y247N probably damaging Het
Pcdhga9 A G 18: 37,870,630 (GRCm39) Y153C probably damaging Het
Pkd1 A T 17: 24,788,861 (GRCm39) D873V probably benign Het
Pnpla1 A G 17: 29,100,021 (GRCm39) N296S probably benign Het
Ppfia3 A G 7: 44,991,765 (GRCm39) V839A probably damaging Het
Ppm1j A T 3: 104,690,036 (GRCm39) Q148L probably null Het
Prune2 T A 19: 17,097,161 (GRCm39) N888K possibly damaging Het
Sh3bgr A G 16: 96,007,066 (GRCm39) D12G probably benign Het
Snph T A 2: 151,442,977 (GRCm39) I35F possibly damaging Het
Spag17 A T 3: 99,979,465 (GRCm39) D1442V probably damaging Het
Spidr T C 16: 15,936,767 (GRCm39) T113A probably benign Het
St13 A T 15: 81,249,693 (GRCm39) N349K probably damaging Het
Ttll6 C T 11: 96,045,430 (GRCm39) S549F possibly damaging Het
Uap1l1 A T 2: 25,252,097 (GRCm39) S473T possibly damaging Het
Vmn1r54 T C 6: 90,246,422 (GRCm39) V112A possibly damaging Het
Vmn2r57 G A 7: 41,078,086 (GRCm39) S124L probably benign Het
Wasf2 A T 4: 132,903,875 (GRCm39) R28W probably benign Het
Zc3h13 A T 14: 75,576,836 (GRCm39) D1648V probably 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
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
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'- ACAGGGGAAAGGCTCTTTG -3'
(R):5'- AGCACGTTTATGGCCTAAAGG -3'

Sequencing Primer
(F):5'- TCCCCAATGTCAAGTGTG -3'
(R):5'- AGGTGCCCTAATGTTAGCAC -3'
Posted On 2016-06-15