Incidental Mutation 'R7594:Top2b'
ID 587643
Institutional Source Beutler Lab
Gene Symbol Top2b
Ensembl Gene ENSMUSG00000017485
Gene Name topoisomerase (DNA) II beta
Synonyms Top-2, D230016L12Rik
MMRRC Submission 045670-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R7594 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 6038976-6104585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 16428587 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1522 (T1522A)
Ref Sequence ENSEMBL: ENSMUSP00000017629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017629] [ENSMUST00000063750] [ENSMUST00000161693] [ENSMUST00000225921]
AlphaFold Q64511
Predicted Effect probably benign
Transcript: ENSMUST00000017629
AA Change: T1522A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000017629
Gene: ENSMUSG00000017485
AA Change: T1522A

DomainStartEndE-ValueType
Blast:TOP2c 32 70 7e-10 BLAST
HATPase_c 85 234 1.91e-2 SMART
TOP2c 89 679 N/A SMART
TOP4c 702 1175 2.55e-230 SMART
low complexity region 1201 1215 N/A INTRINSIC
low complexity region 1287 1299 N/A INTRINSIC
low complexity region 1324 1336 N/A INTRINSIC
low complexity region 1360 1382 N/A INTRINSIC
Pfam:DTHCT 1495 1597 4.6e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000063750
SMART Domains Protein: ENSMUSP00000067694
Gene: ENSMUSG00000017491

DomainStartEndE-ValueType
low complexity region 52 75 N/A INTRINSIC
ZnF_C4 78 149 3.77e-40 SMART
HOLI 223 381 1.72e-34 SMART
low complexity region 428 445 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161693
SMART Domains Protein: ENSMUSP00000123992
Gene: ENSMUSG00000017485

DomainStartEndE-ValueType
Pfam:DNA_topoisoIV 1 117 1.2e-12 PFAM
low complexity region 161 173 N/A INTRINSIC
low complexity region 198 210 N/A INTRINSIC
low complexity region 234 256 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000225921
Meta Mutation Damage Score 0.0762 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (62/63)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a DNA topoisomerase, an enzyme that controls and alters the topologic states of DNA during transcription. This nuclear enzyme is involved in processes such as chromosome condensation, chromatid separation, and the relief of torsional stress that occurs during DNA transcription and replication. It catalyzes the transient breaking and rejoining of two strands of duplex DNA which allows the strands to pass through one another, thus altering the topology of DNA. Two forms of this enzyme exist as likely products of a gene duplication event. The gene encoding this form, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. The gene encoding this enzyme functions as the target for several anticancer agents and a variety of mutations in this gene have been associated with the development of drug resistance. Reduced activity of this enzyme may also play a role in ataxia-telangiectasia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice exhibit abnormal innervation. Offspring die shortly after birth due to respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930516K23Rik T C 7: 103,708,470 (GRCm39) E113G probably damaging Het
Acsm3 A G 7: 119,384,213 (GRCm39) probably null Het
Acvr2a T A 2: 48,784,749 (GRCm39) L345* probably null Het
App T C 16: 84,876,890 (GRCm39) D167G unknown Het
Arhgef33 A G 17: 80,677,734 (GRCm39) D427G probably damaging Het
Arid2 T C 15: 96,288,875 (GRCm39) S1675P probably damaging Het
Atp8a1 T C 5: 67,808,935 (GRCm39) Y985C Het
AW209491 A G 13: 14,811,831 (GRCm39) D228G probably benign Het
Casc3 G A 11: 98,712,311 (GRCm39) A117T probably benign Het
Cass4 C T 2: 172,271,568 (GRCm39) P645S probably benign Het
Ccar2 A T 14: 70,379,243 (GRCm39) Y553* probably null Het
Cox16 A T 12: 81,521,352 (GRCm39) probably null Het
Cpeb3 A T 19: 37,151,551 (GRCm39) V275E possibly damaging Het
Dido1 A G 2: 180,316,905 (GRCm39) V634A probably benign Het
Dnajb1 G A 8: 84,336,473 (GRCm39) S81N probably benign Het
Dst A G 1: 34,252,094 (GRCm39) K2262E probably damaging Het
Eya3 T C 4: 132,422,136 (GRCm39) V237A probably benign Het
Fbxo31 T A 8: 122,279,107 (GRCm39) D460V probably damaging Het
Fcgbpl1 T C 7: 27,830,885 (GRCm39) C33R probably damaging Het
Gabrg3 A T 7: 56,632,443 (GRCm39) N168K possibly damaging Het
Ggh C G 4: 20,049,833 (GRCm39) S88C probably damaging Het
Gm10134 T C 2: 28,396,372 (GRCm39) M89T unknown Het
Kif17 T C 4: 138,005,236 (GRCm39) L267P probably damaging Het
Ksr2 C A 5: 117,693,131 (GRCm39) T193N possibly damaging Het
Lmtk2 T C 5: 144,110,564 (GRCm39) L428P probably damaging Het
Mdn1 G T 4: 32,696,359 (GRCm39) L1247F probably benign Het
Med24 T C 11: 98,605,923 (GRCm39) Y323C probably damaging Het
Mthfd2 A G 6: 83,283,665 (GRCm39) V339A probably benign Het
Mtus2 G T 5: 148,014,216 (GRCm39) R336S probably benign Het
Muc16 T C 9: 18,556,358 (GRCm39) T3312A unknown Het
Nacad A G 11: 6,552,457 (GRCm39) S245P probably damaging Het
Nacc1 T C 8: 85,401,631 (GRCm39) D394G probably damaging Het
Nfatc2 A G 2: 168,365,268 (GRCm39) V582A probably damaging Het
Nid2 T A 14: 19,818,791 (GRCm39) D428E probably benign Het
Or10ag57 A G 2: 87,218,613 (GRCm39) H188R probably damaging Het
Or4a80 T A 2: 89,582,906 (GRCm39) T89S probably benign Het
Or56a4 A G 7: 104,806,880 (GRCm39) L3S probably benign Het
Osbpl5 A T 7: 143,247,534 (GRCm39) L768Q probably benign Het
Plch2 C T 4: 155,091,484 (GRCm39) V210I probably damaging Het
Plekhh1 C T 12: 79,123,277 (GRCm39) T1153I possibly damaging Het
Ppp1r14c T C 10: 3,316,670 (GRCm39) S2P possibly damaging Het
Pramel26 A T 4: 143,539,286 (GRCm39) I69N probably damaging Het
Psmd5 G T 2: 34,750,741 (GRCm39) H239Q probably benign Het
Ptcd2 C A 13: 99,456,790 (GRCm39) A345S possibly damaging Het
Sap30l G A 11: 57,700,947 (GRCm39) probably null Het
Sec14l2 A G 11: 4,061,213 (GRCm39) Y83H probably damaging Het
Slc2a9 A G 5: 38,508,634 (GRCm39) I470T probably benign Het
Sp110 G A 1: 85,506,813 (GRCm39) R417C probably benign Het
Syne1 A G 10: 5,165,190 (GRCm39) probably null Het
Tg T A 15: 66,601,432 (GRCm39) D1766E probably benign Het
Tlr12 T C 4: 128,511,473 (GRCm39) E259G probably benign Het
Tlr6 T C 5: 65,110,594 (GRCm39) Y771C probably damaging Het
Tnrc6b T A 15: 80,764,508 (GRCm39) V670E possibly damaging Het
Tpcn1 A G 5: 120,694,595 (GRCm39) M158T possibly damaging Het
Ttn T C 2: 76,557,186 (GRCm39) I29940V probably benign Het
Ttn G A 2: 76,581,698 (GRCm39) T23065I probably damaging Het
Umodl1 A G 17: 31,173,779 (GRCm39) S20G probably benign Het
Uts2r G T 11: 121,052,191 (GRCm39) V352F possibly damaging Het
Vmn1r67 T A 7: 10,181,342 (GRCm39) M202K possibly damaging Het
Vmn2r107 T C 17: 20,580,635 (GRCm39) V524A probably benign Het
Zc3h12d C A 10: 7,738,382 (GRCm39) D229E probably damaging Het
Zfp541 A G 7: 15,810,311 (GRCm39) D116G probably damaging Het
Zfp971 A G 2: 177,675,793 (GRCm39) E464G possibly damaging Het
Other mutations in Top2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Top2b APN 14 16,422,692 (GRCm38) missense probably benign 0.00
IGL00730:Top2b APN 14 16,389,831 (GRCm38) missense probably damaging 1.00
IGL00917:Top2b APN 14 16,407,354 (GRCm38) missense probably benign 0.05
IGL01959:Top2b APN 14 16,422,695 (GRCm38) missense probably benign 0.19
IGL02019:Top2b APN 14 16,409,965 (GRCm38) missense probably benign 0.44
IGL02119:Top2b APN 14 16,406,733 (GRCm38) missense probably damaging 1.00
IGL02136:Top2b APN 14 16,407,103 (GRCm38) unclassified probably benign
IGL02148:Top2b APN 14 16,400,488 (GRCm38) missense probably damaging 1.00
IGL02496:Top2b APN 14 16,387,335 (GRCm38) missense probably benign
IGL02503:Top2b APN 14 16,407,163 (GRCm38) missense possibly damaging 0.92
IGL02672:Top2b APN 14 16,409,166 (GRCm38) unclassified probably benign
IGL02721:Top2b APN 14 16,409,236 (GRCm38) missense probably damaging 1.00
IGL02886:Top2b APN 14 16,365,688 (GRCm38) missense possibly damaging 0.73
IGL03252:Top2b APN 14 16,393,163 (GRCm38) missense possibly damaging 0.60
PIT4434001:Top2b UTSW 14 16,423,780 (GRCm38) critical splice donor site probably null
R0092:Top2b UTSW 14 16,409,263 (GRCm38) missense probably damaging 1.00
R0201:Top2b UTSW 14 16,383,174 (GRCm38) missense probably damaging 1.00
R0390:Top2b UTSW 14 16,418,442 (GRCm38) missense probably benign 0.00
R0394:Top2b UTSW 14 16,413,556 (GRCm38) splice site probably null
R1159:Top2b UTSW 14 16,430,329 (GRCm38) missense possibly damaging 0.81
R1424:Top2b UTSW 14 16,383,177 (GRCm38) missense probably damaging 1.00
R1519:Top2b UTSW 14 16,408,953 (GRCm38) splice site probably null
R1561:Top2b UTSW 14 16,398,993 (GRCm38) missense possibly damaging 0.80
R1713:Top2b UTSW 14 16,409,823 (GRCm38) missense probably benign 0.05
R1987:Top2b UTSW 14 16,398,916 (GRCm38) missense probably damaging 0.99
R2219:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R2287:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R2422:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R2679:Top2b UTSW 14 16,413,947 (GRCm38) missense probably damaging 1.00
R3687:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3707:Top2b UTSW 14 16,388,447 (GRCm38) missense probably damaging 1.00
R3810:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3812:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3815:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3816:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3818:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4023:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4025:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4026:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4133:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4157:Top2b UTSW 14 16,384,491 (GRCm38) missense probably benign 0.42
R4179:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4180:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4300:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4376:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4377:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4492:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4549:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4550:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4581:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4582:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4628:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4630:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4667:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4668:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4669:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4698:Top2b UTSW 14 16,387,331 (GRCm38) nonsense probably null
R4769:Top2b UTSW 14 16,398,991 (GRCm38) missense probably damaging 1.00
R4809:Top2b UTSW 14 16,383,125 (GRCm38) missense probably benign 0.06
R4899:Top2b UTSW 14 16,387,313 (GRCm38) missense probably damaging 1.00
R5035:Top2b UTSW 14 16,409,966 (GRCm38) missense probably benign 0.01
R5621:Top2b UTSW 14 16,387,280 (GRCm38) missense probably damaging 1.00
R5631:Top2b UTSW 14 16,409,882 (GRCm38) missense probably damaging 1.00
R5685:Top2b UTSW 14 16,413,666 (GRCm38) missense probably damaging 1.00
R5732:Top2b UTSW 14 16,400,106 (GRCm38) missense possibly damaging 0.92
R5939:Top2b UTSW 14 16,422,786 (GRCm38) missense probably damaging 0.96
R6007:Top2b UTSW 14 16,423,779 (GRCm38) critical splice donor site probably null
R6087:Top2b UTSW 14 16,409,864 (GRCm38) missense probably benign 0.14
R6144:Top2b UTSW 14 16,423,740 (GRCm38) missense possibly damaging 0.48
R6196:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R6218:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R6229:Top2b UTSW 14 16,409,838 (GRCm38) missense probably damaging 1.00
R6249:Top2b UTSW 14 16,399,006 (GRCm38) missense probably damaging 1.00
R6337:Top2b UTSW 14 16,399,026 (GRCm38) missense possibly damaging 0.77
R6353:Top2b UTSW 14 16,416,671 (GRCm38) missense probably damaging 1.00
R6512:Top2b UTSW 14 16,409,854 (GRCm38) missense possibly damaging 0.94
R6573:Top2b UTSW 14 16,398,991 (GRCm38) missense probably damaging 1.00
R6614:Top2b UTSW 14 16,407,142 (GRCm38) nonsense probably null
R6844:Top2b UTSW 14 16,429,383 (GRCm38) missense possibly damaging 0.94
R6848:Top2b UTSW 14 16,409,958 (GRCm38) missense possibly damaging 0.89
R6871:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R6895:Top2b UTSW 14 16,413,604 (GRCm38) missense probably benign 0.06
R7162:Top2b UTSW 14 16,416,653 (GRCm38) missense probably benign 0.00
R7247:Top2b UTSW 14 16,416,962 (GRCm38) missense probably benign 0.08
R7250:Top2b UTSW 14 16,420,411 (GRCm38) missense probably benign
R7359:Top2b UTSW 14 16,407,376 (GRCm38) missense probably null 1.00
R7365:Top2b UTSW 14 16,416,649 (GRCm38) missense probably benign 0.04
R7493:Top2b UTSW 14 16,416,605 (GRCm38) missense probably benign 0.00
R7528:Top2b UTSW 14 16,395,427 (GRCm38) nonsense probably null
R7562:Top2b UTSW 14 16,412,946 (GRCm38) missense probably benign 0.04
R7670:Top2b UTSW 14 16,416,620 (GRCm38) missense possibly damaging 0.61
R7894:Top2b UTSW 14 16,413,081 (GRCm38) missense possibly damaging 0.68
R8031:Top2b UTSW 14 16,412,986 (GRCm38) missense probably damaging 0.98
R8150:Top2b UTSW 14 16,393,291 (GRCm38) missense probably damaging 0.99
R8214:Top2b UTSW 14 16,383,177 (GRCm38) missense probably damaging 1.00
R8299:Top2b UTSW 14 16,386,123 (GRCm38) missense possibly damaging 0.68
R8977:Top2b UTSW 14 16,393,239 (GRCm38) missense probably benign 0.36
R9562:Top2b UTSW 14 16,365,718 (GRCm38) missense probably benign 0.09
R9565:Top2b UTSW 14 16,365,718 (GRCm38) missense probably benign 0.09
R9798:Top2b UTSW 14 16,389,845 (GRCm38) missense probably damaging 1.00
X0028:Top2b UTSW 14 16,384,499 (GRCm38) nonsense probably null
Z1176:Top2b UTSW 14 16,395,434 (GRCm38) missense probably damaging 1.00
Z1177:Top2b UTSW 14 16,416,953 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTATAGAATTCACACCAGCTTG -3'
(R):5'- ACCCAAGGAAGCTCACTGTG -3'

Sequencing Primer
(F):5'- CCAGCTTGGTTTGTTGGTAAGTAC -3'
(R):5'- TCTGGTCAATGTTTTAACTCACAAC -3'
Posted On 2019-10-24