Incidental Mutation 'R7528:Top2b'
ID 583145
Institutional Source Beutler Lab
Gene Symbol Top2b
Ensembl Gene ENSMUSG00000017485
Gene Name topoisomerase (DNA) II beta
Synonyms Top-2, D230016L12Rik
MMRRC Submission 045600-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R7528 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 6038976-6104585 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 16395427 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 337 (Y337*)
Ref Sequence ENSEMBL: ENSMUSP00000017629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017629]
AlphaFold Q64511
Predicted Effect probably null
Transcript: ENSMUST00000017629
AA Change: Y337*
SMART Domains Protein: ENSMUSP00000017629
Gene: ENSMUSG00000017485
AA Change: Y337*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (57/57)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 T C 14: 118,767,317 (GRCm39) E920G probably damaging Het
Acss2 A C 2: 155,399,066 (GRCm39) N443H probably damaging Het
Adam3 C A 8: 25,167,279 (GRCm39) A71S unknown Het
Agpat3 A G 10: 78,123,746 (GRCm39) L38P probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Amtn C A 5: 88,526,711 (GRCm39) probably null Het
App T G 16: 84,775,146 (GRCm39) Y497S possibly damaging Het
Bphl T A 13: 34,244,473 (GRCm39) Y197N probably damaging Het
Btrc T A 19: 45,491,525 (GRCm39) M160K possibly damaging Het
Ccdc181 A C 1: 164,107,527 (GRCm39) N70T probably benign Het
Cd55b T C 1: 130,347,473 (GRCm39) N113D possibly damaging Het
Ctrb1 T A 8: 112,413,783 (GRCm39) I194F probably benign Het
Dnah2 T C 11: 69,391,622 (GRCm39) H691R probably damaging Het
Dnajc13 A G 9: 104,056,164 (GRCm39) V1579A possibly damaging Het
Dst T A 1: 34,333,603 (GRCm39) F5030I probably damaging Het
Eppk1 G A 15: 76,004,308 (GRCm39) probably benign Het
Fbxw4 T C 19: 45,648,449 (GRCm39) E7G unknown Het
Fos T A 12: 85,522,432 (GRCm39) C154S probably damaging Het
Foxh1 A G 15: 76,553,511 (GRCm39) V97A probably benign Het
Gmeb1 G A 4: 131,959,361 (GRCm39) T231I possibly damaging Het
Golga3 T A 5: 110,360,098 (GRCm39) V1112E probably damaging Het
Gprin3 T C 6: 59,331,017 (GRCm39) D430G possibly damaging Het
Hpse2 T C 19: 42,801,463 (GRCm39) D441G probably damaging Het
Hydin G A 8: 111,107,204 (GRCm39) W460* probably null Het
Ifi204 T C 1: 173,579,406 (GRCm39) I480V probably benign Het
Impg2 T C 16: 56,080,743 (GRCm39) V849A possibly damaging Het
Kars1 T C 8: 112,737,866 (GRCm39) D12G probably benign Het
Klhdc7a A T 4: 139,694,828 (GRCm39) Y40N probably damaging Het
Krtap5-3 T C 7: 141,755,219 (GRCm39) C19R unknown Het
Macf1 G A 4: 123,325,852 (GRCm39) A5217V possibly damaging Het
Mlc1 A T 15: 88,858,710 (GRCm39) I146N possibly damaging Het
Myo3a A T 2: 22,270,925 (GRCm39) R129* probably null Het
Nsun4 G T 4: 115,891,391 (GRCm39) Y329* probably null Het
Or4k1 A G 14: 50,377,277 (GRCm39) V273A possibly damaging Het
Or56a3b T C 7: 104,771,071 (GRCm39) Y136H probably damaging Het
Pard3 G A 8: 128,329,646 (GRCm39) R1214H probably damaging Het
Phf20 T A 2: 156,144,928 (GRCm39) Y845* probably null Het
Pik3c2a A G 7: 115,993,474 (GRCm39) I431T probably damaging Het
Plxna2 A G 1: 194,494,464 (GRCm39) S1894G probably damaging Het
Ppp1r7 C T 1: 93,282,123 (GRCm39) Q225* probably null Het
Ppp4r1 C A 17: 66,120,493 (GRCm39) T209K probably damaging Het
Prc1 T C 7: 79,950,183 (GRCm39) probably null Het
Prex2 T G 1: 11,274,316 (GRCm39) D1329E probably damaging Het
Ptch1 C T 13: 63,659,528 (GRCm39) R1375H probably benign Het
Rab24 A T 13: 55,468,921 (GRCm39) C87S probably damaging Het
Rnf43 A T 11: 87,622,954 (GRCm39) Y558F probably benign Het
Serpinb6e T C 13: 34,016,474 (GRCm39) I420V possibly damaging Het
Slain2 C A 5: 73,072,143 (GRCm39) S59* probably null Het
Slfn3 A G 11: 83,105,731 (GRCm39) D576G probably benign Het
Sptbn4 A G 7: 27,141,960 (GRCm39) M11T probably benign Het
Tdh T C 14: 63,731,460 (GRCm39) D238G probably damaging Het
Trav15-2-dv6-2 A C 14: 53,887,308 (GRCm39) Y76S probably benign Het
Vmn1r172 G T 7: 23,359,189 (GRCm39) G25C probably damaging Het
Vmn2r60 AG A 7: 41,845,158 (GRCm39) probably null Het
Vps13d T C 4: 144,818,492 (GRCm39) E3125G Het
Xkr6 G T 14: 64,056,610 (GRCm39) V430F probably benign Het
Zfp142 T C 1: 74,610,061 (GRCm39) T1245A probably benign Het
Zfp960 C T 17: 17,307,825 (GRCm39) H180Y 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
R7562:Top2b UTSW 14 16,412,946 (GRCm38) missense probably benign 0.04
R7594:Top2b UTSW 14 16,428,587 (GRCm38) missense probably benign
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'- TGCCATAGATGTGGTAGTGAATGAG -3'
(R):5'- GGCTGCAGAGTCATGTTTTC -3'

Sequencing Primer
(F):5'- ATGTGGTAGTGAATGAGGAGATTG -3'
(R):5'- CTGCAGAGTCATGTTTTCCTTAG -3'
Posted On 2019-10-17