Incidental Mutation 'R1653:Wwp2'
ID 188862
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 039689-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.393) question?
Stock # R1653 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 108162997-108285227 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108210042 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 140 (F140S)
Ref Sequence ENSEMBL: ENSMUSP00000132224 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000166615] [ENSMUST00000212205]
AlphaFold Q9DBH0
Predicted Effect possibly damaging
Transcript: ENSMUST00000166615
AA Change: F140S

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000132224
Gene: ENSMUSG00000031930
AA Change: F140S

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212645
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212906
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.7%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam34 A T 8: 44,103,682 (GRCm39) C654* probably null Het
Adamts19 T A 18: 59,023,365 (GRCm39) N253K probably benign Het
Adgrb3 A G 1: 25,140,584 (GRCm39) L1162S probably benign Het
Ap2b1 T A 11: 83,237,657 (GRCm39) Y574N probably damaging Het
Atrn A G 2: 130,777,544 (GRCm39) I198V probably benign Het
Bcan T A 3: 87,901,503 (GRCm39) I400F probably damaging Het
Capn10 A G 1: 92,874,620 (GRCm39) Y617C probably damaging Het
Capn8 A G 1: 182,451,516 (GRCm39) N578D probably benign Het
Casd1 T C 6: 4,624,134 (GRCm39) L309P probably benign Het
Ccser1 T A 6: 61,288,449 (GRCm39) I204K probably benign Het
Cd276 T C 9: 58,444,732 (GRCm39) T80A probably benign Het
Cdh3 T C 8: 107,265,700 (GRCm39) S248P probably damaging Het
Celsr2 T C 3: 108,320,836 (GRCm39) T659A possibly damaging Het
Col6a4 C T 9: 105,949,608 (GRCm39) V676I probably damaging Het
Crmp1 T A 5: 37,443,812 (GRCm39) V575D probably damaging Het
Ep400 G A 5: 110,841,040 (GRCm39) Q1795* probably null Het
Gcnt3 A G 9: 69,942,359 (GRCm39) C70R probably damaging Het
Gm12258 T C 11: 58,749,113 (GRCm39) I96T possibly damaging Het
Gpr183 A G 14: 122,191,675 (GRCm39) F282S probably damaging Het
Igfals T C 17: 25,100,052 (GRCm39) V381A probably benign Het
Irs3 C A 5: 137,642,783 (GRCm39) L218F probably damaging Het
Kdm5b T C 1: 134,530,219 (GRCm39) F410S probably damaging Het
Klc4 T C 17: 46,942,785 (GRCm39) Y593C possibly damaging Het
Lce1h T A 3: 92,670,750 (GRCm39) Q134L unknown Het
Lyst T C 13: 13,809,811 (GRCm39) S494P probably damaging Het
Marchf3 A G 18: 56,944,967 (GRCm39) M42T probably benign Het
Myh7 A G 14: 55,228,246 (GRCm39) I250T probably benign Het
N4bp1 G T 8: 87,571,576 (GRCm39) H807Q probably benign Het
Ndn C T 7: 61,998,256 (GRCm39) P34L probably benign Het
Nfs1 C T 2: 155,967,256 (GRCm39) G44D probably damaging Het
Nrg1 C T 8: 32,308,681 (GRCm39) R445H probably damaging Het
Or14c43 T C 7: 86,115,420 (GRCm39) V267A probably benign Het
Or4e5 A T 14: 52,728,229 (GRCm39) F64Y probably damaging Het
Or56a5 T A 7: 104,793,077 (GRCm39) D141V possibly damaging Het
Pak5 C T 2: 135,958,807 (GRCm39) V94M probably damaging Het
Pdk1 G A 2: 71,719,339 (GRCm39) probably null Het
Sin3b G T 8: 73,468,147 (GRCm39) V290L probably benign Het
Sirt1 T C 10: 63,157,588 (GRCm39) T609A probably benign Het
Skint5 A T 4: 113,347,875 (GRCm39) S1289T unknown Het
Slc32a1 A T 2: 158,456,809 (GRCm39) H488L probably benign Het
Slc35b3 A G 13: 39,139,774 (GRCm39) S18P probably benign Het
Spaca7 T A 8: 12,636,501 (GRCm39) I109K possibly damaging Het
Tmem204 A G 17: 25,299,501 (GRCm39) L6P possibly damaging Het
Tubgcp6 G A 15: 88,991,645 (GRCm39) R651C probably damaging Het
Vps13b T A 15: 35,607,418 (GRCm39) L1117* probably null Het
Wdcp T C 12: 4,901,815 (GRCm39) L557P probably damaging Het
Zfp429 C T 13: 67,538,043 (GRCm39) R467H possibly damaging Het
Zfp747l1 G T 7: 126,983,652 (GRCm39) H483Q possibly damaging Het
Zfp839 T A 12: 110,821,684 (GRCm39) M166K probably benign Het
Zfyve9 G A 4: 108,517,774 (GRCm39) Q1106* probably null Het
Zrsr2-ps1 T A 11: 22,924,158 (GRCm39) C311S 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
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
Predicted Primers PCR Primer
(F):5'- GAGCATTGCCATTCAGCACACC -3'
(R):5'- GGCCGCTAAAGAGTCTCTAACCAAG -3'

Sequencing Primer
(F):5'- TTTCACAAGACATTAGAAAGGGC -3'
(R):5'- GTCTCTAACCAAGATGCCTAGCAG -3'
Posted On 2014-05-09