Incidental Mutation 'IGL01782:Ube2r2'
ID 153974
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ube2r2
Ensembl Gene ENSMUSG00000036241
Gene Name ubiquitin-conjugating enzyme E2R 2
Synonyms Cdc34b, Ubc3b, 1200003M11Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.314) question?
Stock # IGL01782
Quality Score
Status
Chromosome 4
Chromosomal Location 41136021-41193370 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 41174129 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000038813 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040008]
AlphaFold Q6ZWZ2
Predicted Effect probably null
Transcript: ENSMUST00000040008
SMART Domains Protein: ENSMUSP00000038813
Gene: ENSMUSG00000036241

DomainStartEndE-ValueType
UBCc 11 174 1.55e-65 SMART
low complexity region 204 232 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000121384
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157105
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Protein kinase CK2 is a ubiquitous and pleiotropic Ser/Thr protein kinase involved in cell growth and transformation. This gene encodes a protein similar to the E2 ubiquitin conjugating enzyme UBC3/CDC34. Studies suggest that CK2-dependent phosphorylation of this ubiquitin-conjugating enzyme functions by regulating beta-TrCP substrate recognition and induces its interaction with beta-TrCP, enhancing beta-catenin degradation. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aagab T C 9: 63,523,995 (GRCm39) V34A probably benign Het
Acacb G T 5: 114,338,581 (GRCm39) G764W probably damaging Het
Adam34l T A 8: 44,079,772 (GRCm39) T151S probably benign Het
Ankib1 A G 5: 3,777,607 (GRCm39) C428R probably damaging Het
Card11 A G 5: 140,913,481 (GRCm39) M1T probably null Het
Ccdc62 T A 5: 124,092,639 (GRCm39) N541K possibly damaging Het
Cep290 C T 10: 100,380,987 (GRCm39) Q1742* probably null Het
Cyp2c23 T C 19: 44,017,554 (GRCm39) T25A possibly damaging Het
Dtx2 C A 5: 136,038,981 (GRCm39) Y13* probably null Het
Dync1h1 T C 12: 110,581,374 (GRCm39) I273T probably damaging Het
Etfb A G 7: 43,103,966 (GRCm39) T134A probably damaging Het
Fig4 A C 10: 41,146,396 (GRCm39) L182R probably benign Het
Gm10220 A T 5: 26,322,021 (GRCm39) L217Q probably damaging Het
Gm4871 T G 5: 144,967,170 (GRCm39) probably benign Het
Gm5464 T C 14: 67,106,837 (GRCm39) probably benign Het
Lurap1 A G 4: 116,001,700 (GRCm39) probably benign Het
Mmp17 T A 5: 129,679,205 (GRCm39) V368E probably damaging Het
Mrpl22 T A 11: 58,062,670 (GRCm39) probably null Het
Nisch G A 14: 30,898,596 (GRCm39) probably benign Het
Odf4 A T 11: 68,817,459 (GRCm39) H76Q probably damaging Het
Or2t48 T A 11: 58,419,985 (GRCm39) M276L probably benign Het
Or6c207 C T 10: 129,104,908 (GRCm39) V95I probably benign Het
Orc1 T C 4: 108,463,465 (GRCm39) S661P possibly damaging Het
Otud4 T G 8: 80,399,640 (GRCm39) F784V possibly damaging Het
Prkch A G 12: 73,806,436 (GRCm39) D561G probably damaging Het
Pttg1ip T C 10: 77,417,763 (GRCm39) probably null Het
Ranbp2 A G 10: 58,314,131 (GRCm39) K1617R probably damaging Het
Rarb T G 14: 16,434,180 (GRCm38) S333R probably damaging Het
Rps6ka2 A G 17: 7,503,523 (GRCm39) K99E probably benign Het
Sel1l2 A T 2: 140,085,855 (GRCm39) W542R probably damaging Het
Sema3g G T 14: 30,949,748 (GRCm39) R643L probably damaging Het
Sltm T A 9: 70,480,923 (GRCm39) D258E probably damaging Het
Stx18 G A 5: 38,263,955 (GRCm39) V80I possibly damaging Het
Taar2 A T 10: 23,817,042 (GRCm39) N194I probably damaging Het
Unk C A 11: 115,949,205 (GRCm39) N645K probably benign Het
Vmn1r73 A G 7: 11,490,665 (GRCm39) K161R probably benign Het
Vps13a T C 19: 16,731,701 (GRCm39) D137G probably damaging Het
Xrra1 A G 7: 99,524,401 (GRCm39) T104A possibly damaging Het
Zfp410 T A 12: 84,374,048 (GRCm39) probably benign Het
Zfp764l1 T C 7: 126,992,476 (GRCm39) T45A probably benign Het
Other mutations in Ube2r2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01338:Ube2r2 APN 4 41,174,119 (GRCm39) missense probably benign 0.27
R0959:Ube2r2 UTSW 4 41,174,066 (GRCm39) missense probably damaging 1.00
R2228:Ube2r2 UTSW 4 41,174,044 (GRCm39) missense probably benign 0.01
R4944:Ube2r2 UTSW 4 41,190,742 (GRCm39) unclassified probably benign
R5335:Ube2r2 UTSW 4 41,190,846 (GRCm39) unclassified probably benign
R7922:Ube2r2 UTSW 4 41,190,812 (GRCm39) missense unknown
R8777:Ube2r2 UTSW 4 41,190,715 (GRCm39) missense possibly damaging 0.94
R8777-TAIL:Ube2r2 UTSW 4 41,190,715 (GRCm39) missense possibly damaging 0.94
R9447:Ube2r2 UTSW 4 41,190,655 (GRCm39) missense probably damaging 1.00
R9684:Ube2r2 UTSW 4 41,183,329 (GRCm39) missense probably benign 0.12
Posted On 2014-02-04