Incidental Mutation 'R8354:Ube2v2'
ID 660626
Institutional Source Beutler Lab
Gene Symbol Ube2v2
Ensembl Gene ENSMUSG00000022674
Gene Name ubiquitin-conjugating enzyme E2 variant 2
Synonyms 4632410D19Rik, 5730524P06Rik, MMS2, 1110021H13Rik
MMRRC Submission 067806-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.733) question?
Stock # R8354 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 15368850-15412382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15399005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 28 (D28G)
Ref Sequence ENSEMBL: ENSMUSP00000111442 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096234] [ENSMUST00000115776] [ENSMUST00000115777] [ENSMUST00000118236] [ENSMUST00000229859]
AlphaFold Q9D2M8
Predicted Effect probably benign
Transcript: ENSMUST00000096234
SMART Domains Protein: ENSMUSP00000093951
Gene: ENSMUSG00000022674

DomainStartEndE-ValueType
UBCc 2 105 1.06e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000115776
AA Change: D28G

PolyPhen 2 Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000111442
Gene: ENSMUSG00000022674
AA Change: D28G

DomainStartEndE-ValueType
PDB:1J7D|A 1 103 1e-63 PDB
SCOP:d1jatb_ 8 101 2e-31 SMART
Blast:UBCc 13 103 1e-53 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000115777
AA Change: D28G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000111443
Gene: ENSMUSG00000022674
AA Change: D28G

DomainStartEndE-ValueType
UBCc 13 145 7.83e-21 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000118236
SMART Domains Protein: ENSMUSP00000112802
Gene: ENSMUSG00000022674

DomainStartEndE-ValueType
Blast:UBCc 1 61 2e-32 BLAST
SCOP:d1jatb_ 1 61 9e-9 SMART
PDB:1J7D|A 1 63 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000229859
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 99% (70/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ubiquitin-conjugating enzyme E2 variant proteins constitute a distinct subfamily within the E2 protein family. They have sequence similarity to other ubiquitin-conjugating enzymes but lack the conserved cysteine residue that is critical for the catalytic activity of E2s. The protein encoded by this gene also shares homology with ubiquitin-conjugating enzyme E2 variant 1 and yeast MMS2 gene product. It may be involved in the differentiation of monocytes and enterocytes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd12 A T 2: 150,676,297 (GRCm39) S353R probably damaging Het
Ap1ar T C 3: 127,606,428 (GRCm39) probably null Het
Asxl1 C A 2: 153,235,345 (GRCm39) N213K probably benign Het
Cacna1e A G 1: 154,274,314 (GRCm39) V2197A probably damaging Het
Cacna2d2 G A 9: 107,401,334 (GRCm39) E706K possibly damaging Het
Cfap46 C T 7: 139,233,414 (GRCm39) V296I probably benign Het
Cldn5 A G 16: 18,596,043 (GRCm39) T100A probably benign Het
Ctnna1 C A 18: 35,385,776 (GRCm39) N802K possibly damaging Het
Dennd2b G A 7: 109,124,755 (GRCm39) R675* probably null Het
Dip2c A G 13: 9,671,918 (GRCm39) T968A probably benign Het
Dnaaf5 ACCCAGCACCTGGAGATCGTCC ACC 5: 139,147,614 (GRCm39) probably null Het
Dnah8 A T 17: 30,862,234 (GRCm39) D203V probably benign Het
Dnajc13 A G 9: 104,094,927 (GRCm39) M585T probably damaging Het
Donson G T 16: 91,480,685 (GRCm39) T262K possibly damaging Het
E2f3 T A 13: 30,169,787 (GRCm39) probably benign Het
Fam110c A G 12: 31,125,178 (GRCm39) E380G possibly damaging Het
Gbp9 T G 5: 105,242,027 (GRCm39) T177P probably damaging Het
Gins3 C T 8: 96,364,646 (GRCm39) A132V probably benign Het
Glra3 T A 8: 56,578,345 (GRCm39) Y467* probably null Het
Gm7138 A G 10: 77,612,444 (GRCm39) probably benign Het
Golim4 T C 3: 75,802,308 (GRCm39) E328G probably damaging Het
Habp2 T A 19: 56,301,388 (GRCm39) C270* probably null Het
Hecw2 A G 1: 53,964,467 (GRCm39) probably null Het
Hmcn1 A T 1: 150,634,142 (GRCm39) Y815N possibly damaging Het
Igfn1 A T 1: 135,887,619 (GRCm39) C2482S possibly damaging Het
Igkv4-71 A G 6: 69,220,260 (GRCm39) V57A probably damaging Het
Itpkb G A 1: 180,160,908 (GRCm39) E345K possibly damaging Het
Itpr3 G A 17: 27,334,893 (GRCm39) V2136M possibly damaging Het
Kcnh3 A G 15: 99,127,211 (GRCm39) T336A probably damaging Het
Kdm4d T C 9: 14,375,235 (GRCm39) T208A possibly damaging Het
Kntc1 T C 5: 123,916,330 (GRCm39) F721S probably damaging Het
Krt10 A G 11: 99,280,086 (GRCm39) probably benign Het
Lgals3bp T A 11: 118,289,367 (GRCm39) N28I probably damaging Het
Matn2 T C 15: 34,378,843 (GRCm39) L293P probably damaging Het
Mical3 T C 6: 120,950,381 (GRCm39) E1010G probably damaging Het
Mpp4 C A 1: 59,169,224 (GRCm39) R380L probably damaging Het
Msh5 A G 17: 35,250,742 (GRCm39) F469L possibly damaging Het
Ncam2 A G 16: 81,309,847 (GRCm39) T446A probably benign Het
Neurl4 A G 11: 69,800,062 (GRCm39) D1050G probably damaging Het
Olfml2b T C 1: 170,509,793 (GRCm39) Y714H possibly damaging Het
Or5d43 T C 2: 88,105,036 (GRCm39) D119G probably damaging Het
Or8c17 T C 9: 38,180,513 (GRCm39) S235P probably benign Het
Pcnx2 T C 8: 126,488,357 (GRCm39) E1729G probably damaging Het
Peg10 GCACATCAGGATCC GCACATCAGGATCCCCATCAGGATCCTCCACATCAGGATCC 6: 4,756,452 (GRCm39) probably benign Het
Pex1 T A 5: 3,681,707 (GRCm39) L1051Q probably damaging Het
Prkag2 T A 5: 25,074,137 (GRCm39) R283* probably null Het
Prrc1 T A 18: 57,504,503 (GRCm39) M238K probably damaging Het
Ptprj T C 2: 90,300,061 (GRCm39) T247A probably benign Het
Ptprz1 A G 6: 22,999,614 (GRCm39) Y568C probably damaging Het
Rab36 G A 10: 74,884,291 (GRCm39) A114T probably damaging Het
Rfx7 T C 9: 72,526,731 (GRCm39) V1307A probably benign Het
Scaf1 A C 7: 44,657,251 (GRCm39) probably benign Het
Sema4g A T 19: 44,986,866 (GRCm39) T440S probably benign Het
Setbp1 A T 18: 78,900,598 (GRCm39) V1023E probably damaging Het
Slc46a2 T C 4: 59,913,931 (GRCm39) I331V possibly damaging Het
Slc4a7 C T 14: 14,786,313 (GRCm38) R1000C probably damaging Het
Sorcs2 T C 5: 36,222,753 (GRCm39) H162R probably benign Het
Spata31f1e T A 4: 42,793,223 (GRCm39) H303L probably benign Het
Strip2 G A 6: 29,920,531 (GRCm39) probably null Het
Stx2 T A 5: 129,071,932 (GRCm39) I42L probably benign Het
Tas2r124 A T 6: 132,732,410 (GRCm39) T240S probably benign Het
Tgfbrap1 A T 1: 43,115,070 (GRCm39) V10D probably damaging Het
Tmem41a T A 16: 21,766,181 (GRCm39) Y19F probably benign Het
Tmprss5 A G 9: 49,018,439 (GRCm39) T74A possibly damaging Het
Trim16 G T 11: 62,727,587 (GRCm39) R216L probably benign Het
Trmt10c T C 16: 55,854,870 (GRCm39) K255R probably benign Het
Trpm2 A T 10: 77,769,483 (GRCm39) V747E probably damaging Het
Uty G A Y: 1,157,928 (GRCm39) T705I possibly damaging Het
Vmn2r80 A T 10: 78,984,710 (GRCm39) I21F probably benign Het
Wdr11 T C 7: 129,204,723 (GRCm39) L176S probably damaging Het
Zfp992 A G 4: 146,551,319 (GRCm39) T347A probably benign Het
Other mutations in Ube2v2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02057:Ube2v2 APN 16 15,394,922 (GRCm39) missense probably benign 0.01
IGL02884:Ube2v2 APN 16 15,374,349 (GRCm39) missense probably benign 0.00
R5573:Ube2v2 UTSW 16 15,374,343 (GRCm39) missense possibly damaging 0.94
R5978:Ube2v2 UTSW 16 15,394,991 (GRCm39) missense probably benign 0.19
R7159:Ube2v2 UTSW 16 15,398,948 (GRCm39) missense probably benign 0.00
R7677:Ube2v2 UTSW 16 15,398,964 (GRCm39) missense probably benign
R9722:Ube2v2 UTSW 16 15,394,899 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TACACTTCCAACAGGAGGCATC -3'
(R):5'- AATTCTTTCTTGAGGGAAGTTTGCC -3'

Sequencing Primer
(F):5'- GAAGGGATTCTTCCTGTCAAAAG -3'
(R):5'- AGTTTGCCTTTGGGTGAAATAATTTG -3'
Posted On 2021-01-18