Incidental Mutation 'R7159:Ube2v2'
ID 557533
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 045259-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.713) question?
Stock # R7159 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 15368850-15412382 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 15398948 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 47 (T47I)
Ref Sequence ENSEMBL: ENSMUSP00000111443 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096234] [ENSMUST00000115776] [ENSMUST00000115777] [ENSMUST00000118236] [ENSMUST00000229859]
AlphaFold Q9D2M8
Predicted Effect probably benign
Transcript: ENSMUST00000096234
AA Change: T7I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000093951
Gene: ENSMUSG00000022674
AA Change: T7I

DomainStartEndE-ValueType
UBCc 2 105 1.06e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115776
AA Change: T47I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111442
Gene: ENSMUSG00000022674
AA Change: T47I

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: T47I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000111443
Gene: ENSMUSG00000022674
AA Change: T47I

DomainStartEndE-ValueType
UBCc 13 145 7.83e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118236
AA Change: T7I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112802
Gene: ENSMUSG00000022674
AA Change: T7I

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
AA Change: T7I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 T A 7: 75,380,327 (GRCm39) V500E possibly damaging Het
Ankrd34b T C 13: 92,575,970 (GRCm39) S401P probably benign Het
Arfgef2 T A 2: 166,668,848 (GRCm39) D41E probably benign Het
Arid1a T C 4: 133,480,879 (GRCm39) N15S unknown Het
Arsa A T 15: 89,358,921 (GRCm39) probably null Het
B3gnt9 C A 8: 105,981,064 (GRCm39) C108F probably damaging Het
Bbc3 C A 7: 16,047,733 (GRCm39) Y152* probably null Het
Btbd1 T C 7: 81,467,957 (GRCm39) M188V probably benign Het
Caln1 C T 5: 130,851,838 (GRCm39) T209I probably benign Het
Casp12 C T 9: 5,353,763 (GRCm39) P266S possibly damaging Het
Ccm2l A T 2: 152,912,787 (GRCm39) I109F probably damaging Het
Chst15 A C 7: 131,871,987 (GRCm39) L98R probably damaging Het
Ctsq A G 13: 61,186,737 (GRCm39) M89T probably benign Het
Ddx39b T C 17: 35,465,986 (GRCm39) V169A probably benign Het
Fhad1 T C 4: 141,678,927 (GRCm39) H583R probably benign Het
Fndc1 T A 17: 8,019,763 (GRCm39) I139F probably damaging Het
Gm7145 C G 1: 117,913,561 (GRCm39) H148D probably benign Het
Gpr62 C A 9: 106,342,641 (GRCm39) A96S probably damaging Het
Gsap T A 5: 21,475,618 (GRCm39) probably null Het
Hdhd5 T A 6: 120,500,432 (GRCm39) T89S probably damaging Het
Kcna5 T A 6: 126,510,592 (GRCm39) Y512F probably damaging Het
Krt84 C A 15: 101,438,044 (GRCm39) E304* probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lrp6 C A 6: 134,484,514 (GRCm39) V370L probably benign Het
Lrrc3c G A 11: 98,490,144 (GRCm39) G167D probably damaging Het
Man2b1 C T 8: 85,813,909 (GRCm39) T291M probably benign Het
Mapkbp1 A G 2: 119,855,613 (GRCm39) E1438G possibly damaging Het
Med12l A G 3: 59,183,438 (GRCm39) T1947A probably benign Het
Myh15 A T 16: 48,881,937 (GRCm39) T60S probably damaging Het
Myo5a A T 9: 75,078,845 (GRCm39) I868F probably benign Het
Myom3 A T 4: 135,536,162 (GRCm39) I1278F probably damaging Het
Nbn G T 4: 15,983,677 (GRCm39) probably null Het
Ncam2 G T 16: 81,287,262 (GRCm39) S392I probably damaging Het
Nrg3 A C 14: 38,092,692 (GRCm39) L647* probably null Het
Or10j7 A T 1: 173,011,890 (GRCm39) L37Q possibly damaging Het
Or2t35 T C 14: 14,407,251 (GRCm38) S8P possibly damaging Het
Or2y1g A T 11: 49,171,185 (GRCm39) D70V probably damaging Het
Or8j3c T A 2: 86,253,956 (GRCm39) probably null Het
Pcdhb9 A G 18: 37,534,545 (GRCm39) N180D possibly damaging Het
Pcdhga4 A G 18: 37,819,972 (GRCm39) N507S probably damaging Het
Pdilt A G 7: 119,087,174 (GRCm39) V492A probably benign Het
Phf12 A G 11: 77,914,366 (GRCm39) T603A possibly damaging Het
Phox2b T A 5: 67,254,928 (GRCm39) I174F probably benign Het
Polq A T 16: 36,883,215 (GRCm39) Q1793L possibly damaging Het
Prmt9 T C 8: 78,282,393 (GRCm39) F97L probably benign Het
Prpsap1 T C 11: 116,384,870 (GRCm39) E13G probably benign Het
Ptpru A G 4: 131,546,851 (GRCm39) L280P probably damaging Het
Pygl A T 12: 70,244,180 (GRCm39) M587K probably benign Het
Rc3h2 T C 2: 37,299,659 (GRCm39) S124G probably benign Het
Rdh5 A G 10: 128,754,184 (GRCm39) I83T possibly damaging Het
Rigi A G 4: 40,213,804 (GRCm39) V618A probably benign Het
Ryr2 T G 13: 11,825,794 (GRCm39) R561S probably damaging Het
Scara3 A G 14: 66,158,229 (GRCm39) L593P probably damaging Het
Scfd2 T C 5: 74,692,004 (GRCm39) I93V probably benign Het
Sema4f C A 6: 82,894,864 (GRCm39) V444L possibly damaging Het
Slco1a7 T A 6: 141,719,504 (GRCm39) M1L probably damaging Het
Spata33 T C 8: 123,941,134 (GRCm39) L61P unknown Het
Stard10 A T 7: 100,992,343 (GRCm39) probably null Het
Stub1 T C 17: 26,051,038 (GRCm39) I115V probably benign Het
Tlcd3b T C 7: 126,426,667 (GRCm39) F80S probably damaging Het
Tmem247 C T 17: 87,225,710 (GRCm39) T50I probably benign Het
Tnrc6b A G 15: 80,771,223 (GRCm39) M1103V possibly damaging Het
Trim61 T C 8: 65,466,526 (GRCm39) Y245C probably benign Het
Trip13 T C 13: 74,068,130 (GRCm39) I284V probably benign Het
Trpm4 T C 7: 44,976,692 (GRCm39) probably null Het
Ttn C A 2: 76,740,092 (GRCm39) L3528F unknown Het
Ttn A G 2: 76,560,918 (GRCm39) L29161S probably damaging Het
Vwa5b1 C T 4: 138,302,733 (GRCm39) A921T possibly damaging Het
Xylt1 T A 7: 117,236,829 (GRCm39) F526Y probably damaging 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
R7677:Ube2v2 UTSW 16 15,398,964 (GRCm39) missense probably benign
R8354:Ube2v2 UTSW 16 15,399,005 (GRCm39) missense possibly damaging 0.49
R9722:Ube2v2 UTSW 16 15,394,899 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ATACACTTCCAACAGGAGGC -3'
(R):5'- AATTCTTTCTTGAGGGAAGTTTGCC -3'

Sequencing Primer
(F):5'- CAACAGGAGGCATCAATTAATAAATG -3'
(R):5'- AGTTTGCCTTTGGGTGAAATAATTTG -3'
Posted On 2019-06-26