Incidental Mutation 'R7894:Top2a'
ID 609535
Institutional Source Beutler Lab
Gene Symbol Top2a
Ensembl Gene ENSMUSG00000020914
Gene Name topoisomerase (DNA) II alpha
Synonyms DNA Topoisomerase II alpha, Top-2
MMRRC Submission 045946-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7894 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98900431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 645 (D645E)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably damaging
Transcript: ENSMUST00000068031
AA Change: D645E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: D645E

DomainStartEndE-ValueType
low complexity region 10 21 N/A INTRINSIC
Blast:TOP2c 22 60 3e-12 BLAST
HATPase_c 75 224 1.81e-2 SMART
TOP2c 79 669 N/A SMART
TOP4c 692 1166 3.58e-234 SMART
low complexity region 1192 1202 N/A INTRINSIC
low complexity region 1226 1238 N/A INTRINSIC
low complexity region 1261 1273 N/A INTRINSIC
low complexity region 1291 1306 N/A INTRINSIC
low complexity region 1407 1418 N/A INTRINSIC
Pfam:DTHCT 1425 1518 1.1e-18 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 99% (81/82)
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, alpha, is localized to chromosome 17 and the beta gene is localized to chromosome 3. 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. [provided by RefSeq, Jul 2010]
Allele List at MGI

All alleles(47) : Targeted(1) Gene trapped(46)

Other mutations in this stock
Total: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,997,415 (GRCm39) M1551T possibly damaging Het
Abcc9 A G 6: 142,539,733 (GRCm39) *1547Q probably null Het
Adamts20 A C 15: 94,249,641 (GRCm39) C459G probably damaging Het
Adamts5 C T 16: 85,674,808 (GRCm39) W452* probably null Het
Adcy8 G T 15: 64,792,054 (GRCm39) Q301K possibly damaging Het
Adgrv1 A C 13: 81,715,570 (GRCm39) C873G probably benign Het
Ak9 A G 10: 41,296,535 (GRCm39) D1427G unknown Het
Amy2a1 T A 3: 113,324,190 (GRCm39) M117L possibly damaging Het
Ap5z1 G T 5: 142,452,039 (GRCm39) R23L probably benign Het
Ap5z1 C T 5: 142,456,191 (GRCm39) Q337* probably null Het
Astn1 C A 1: 158,429,508 (GRCm39) Q759K probably damaging Het
Cd276 T A 9: 58,444,762 (GRCm39) T70S possibly damaging Het
Cd38 C T 5: 44,057,746 (GRCm39) T106I probably damaging Het
Cdon C G 9: 35,388,244 (GRCm39) R740G probably damaging Het
Clk2 C T 3: 89,076,201 (GRCm39) R124W possibly damaging Het
Cyp1b1 C T 17: 80,021,644 (GRCm39) V33M possibly damaging Het
Dab1 T A 4: 104,589,335 (GRCm39) D547E probably benign Het
Degs1 A T 1: 182,104,416 (GRCm39) Y290N probably damaging Het
Degs1 G C 1: 182,104,417 (GRCm39) H289Q probably benign Het
Dop1b T A 16: 93,607,092 (GRCm39) C2249S probably benign Het
Ecpas T C 4: 58,853,708 (GRCm39) N361S probably damaging Het
Ehd4 A C 2: 119,932,909 (GRCm39) Y172* probably null Het
Erc2 A G 14: 27,499,165 (GRCm39) D347G probably damaging Het
Espl1 T G 15: 102,212,460 (GRCm39) V522G probably damaging Het
Fabp9 T A 3: 10,262,227 (GRCm39) T10S probably benign Het
Fam193a T C 5: 34,597,877 (GRCm39) I558T possibly damaging Het
Fhod1 T C 8: 106,057,789 (GRCm39) E912G probably damaging Het
Gja1 T C 10: 56,264,645 (GRCm39) F335L possibly damaging Het
Gm29106 A G 1: 118,127,265 (GRCm39) H319R probably damaging Het
Hunk C T 16: 90,269,353 (GRCm39) S299F probably damaging Het
Hydin C T 8: 111,239,642 (GRCm39) T1974M possibly damaging Het
Ighv10-1 T A 12: 114,442,650 (GRCm39) T112S probably damaging Het
Ireb2 T A 9: 54,789,620 (GRCm39) V98E probably damaging Het
Irf4 A C 13: 30,937,435 (GRCm39) H167P probably benign Het
Irf6 C T 1: 192,845,021 (GRCm39) P164L probably benign Het
Josd1 A G 15: 79,561,451 (GRCm39) I119T probably damaging Het
Kcna5 G T 6: 126,512,011 (GRCm39) T39K probably damaging Het
Klhl24 A G 16: 19,941,750 (GRCm39) D566G probably damaging Het
Kmt2a T A 9: 44,761,154 (GRCm39) K232* probably null Het
Krt36 A G 11: 99,996,061 (GRCm39) L121P probably damaging Het
Lama3 A T 18: 12,595,864 (GRCm39) H931L probably benign Het
Lamp3 A T 16: 19,474,141 (GRCm39) I411N probably damaging Het
Lingo3 C T 10: 80,670,610 (GRCm39) W440* probably null Het
Mia2 T C 12: 59,236,433 (GRCm39) Y712H probably damaging Het
Mlh1 T A 9: 111,059,145 (GRCm39) probably null Het
Mta3 T A 17: 84,070,363 (GRCm39) S174T probably benign Het
Myo15a A G 11: 60,381,963 (GRCm39) T347A Het
Naaladl2 C T 3: 23,900,718 (GRCm39) R704H possibly damaging Het
Nfib T C 4: 82,246,030 (GRCm39) N394S probably benign Het
Nr2f2 A G 7: 70,009,681 (GRCm39) Y133H probably damaging Het
Or2ak7 C T 11: 58,575,500 (GRCm39) S267F possibly damaging Het
Or2i1 C T 17: 37,508,047 (GRCm39) E196K probably damaging Het
Or4c115 A G 2: 88,927,932 (GRCm39) V113A possibly damaging Het
Or4f61 A T 2: 111,922,822 (GRCm39) C75S probably benign Het
Or5p62 T A 7: 107,771,391 (GRCm39) M187L probably benign Het
Phgdh C A 3: 98,247,124 (GRCm39) V9L probably damaging Het
Pkd2 T A 5: 104,628,103 (GRCm39) D392E probably damaging Het
Plekhm3 A G 1: 64,960,874 (GRCm39) S461P probably benign Het
Prss39 A G 1: 34,539,308 (GRCm39) T183A probably benign Het
Pter T A 2: 12,999,566 (GRCm39) I235K probably damaging Het
Ptp4a3 T C 15: 73,628,756 (GRCm39) V172A probably benign Het
Rasa2 T C 9: 96,484,780 (GRCm39) N145D probably benign Het
Rasal2 A T 1: 157,071,218 (GRCm39) H45Q probably benign Het
Rbm43 A G 2: 51,815,909 (GRCm39) V104A probably damaging Het
Rhbdd2 C A 5: 135,667,969 (GRCm39) probably null Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rimbp2 T A 5: 128,838,528 (GRCm39) N1023I probably damaging Het
Rtl1 A T 12: 109,561,031 (GRCm39) D269E possibly damaging Het
Sbp A G 17: 24,161,163 (GRCm39) probably benign Het
Sorbs1 T A 19: 40,316,020 (GRCm39) T374S probably benign Het
Tgs1 A T 4: 3,598,652 (GRCm39) K655I probably benign Het
Thsd1 A C 8: 22,749,585 (GRCm39) T819P probably damaging Het
Tmprss11c C T 5: 86,379,655 (GRCm39) V418M probably damaging Het
Top2b G A 14: 16,413,081 (GRCm38) V997I possibly damaging Het
Ttc34 A G 4: 154,943,840 (GRCm39) D118G probably damaging Het
Ttll5 A G 12: 85,935,948 (GRCm39) D353G probably damaging Het
Uba6 A T 5: 86,265,924 (GRCm39) Y994* probably null Het
Vinac1 A C 2: 128,879,049 (GRCm39) V959G unknown Het
Vmn1r189 A T 13: 22,285,906 (GRCm39) Y310* probably null Het
Vps13c T A 9: 67,834,265 (GRCm39) I1644N probably damaging Het
Zfp811 T C 17: 33,017,821 (GRCm39) D73G possibly damaging Het
Zfp951 A T 5: 104,962,838 (GRCm39) C243S probably benign Het
Other mutations in Top2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00518:Top2a APN 11 98,909,647 (GRCm39) nonsense probably null
IGL01285:Top2a APN 11 98,896,985 (GRCm39) splice site probably benign
IGL01445:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01451:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01456:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01458:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01481:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01485:Top2a APN 11 98,901,856 (GRCm39) missense probably damaging 1.00
IGL01753:Top2a APN 11 98,898,100 (GRCm39) missense probably damaging 0.97
IGL03029:Top2a APN 11 98,909,625 (GRCm39) missense probably benign 0.03
PIT4581001:Top2a UTSW 11 98,893,790 (GRCm39) missense probably damaging 0.97
PIT4585001:Top2a UTSW 11 98,892,199 (GRCm39) missense probably benign 0.02
R0008:Top2a UTSW 11 98,893,729 (GRCm39) nonsense probably null
R0047:Top2a UTSW 11 98,888,682 (GRCm39) missense probably benign
R0047:Top2a UTSW 11 98,888,682 (GRCm39) missense probably benign
R0070:Top2a UTSW 11 98,905,886 (GRCm39) critical splice acceptor site probably null
R0070:Top2a UTSW 11 98,905,886 (GRCm39) critical splice acceptor site probably null
R0116:Top2a UTSW 11 98,894,416 (GRCm39) missense probably benign 0.00
R0245:Top2a UTSW 11 98,900,922 (GRCm39) missense probably benign 0.37
R0276:Top2a UTSW 11 98,900,733 (GRCm39) splice site probably benign
R0288:Top2a UTSW 11 98,907,249 (GRCm39) splice site probably benign
R0335:Top2a UTSW 11 98,913,781 (GRCm39) missense probably benign 0.08
R0422:Top2a UTSW 11 98,900,679 (GRCm39) missense probably damaging 1.00
R0546:Top2a UTSW 11 98,890,052 (GRCm39) missense possibly damaging 0.75
R0558:Top2a UTSW 11 98,887,665 (GRCm39) missense probably benign
R0599:Top2a UTSW 11 98,892,243 (GRCm39) missense probably damaging 0.99
R0727:Top2a UTSW 11 98,902,974 (GRCm39) nonsense probably null
R1565:Top2a UTSW 11 98,891,880 (GRCm39) missense probably damaging 0.99
R1674:Top2a UTSW 11 98,900,099 (GRCm39) missense probably damaging 0.96
R1844:Top2a UTSW 11 98,906,895 (GRCm39) missense probably benign 0.06
R1959:Top2a UTSW 11 98,886,803 (GRCm39) splice site probably null
R2124:Top2a UTSW 11 98,895,054 (GRCm39) missense probably benign 0.00
R2128:Top2a UTSW 11 98,900,633 (GRCm39) missense probably damaging 0.97
R3707:Top2a UTSW 11 98,887,651 (GRCm39) missense probably benign 0.13
R4110:Top2a UTSW 11 98,913,786 (GRCm39) missense probably damaging 1.00
R4112:Top2a UTSW 11 98,913,786 (GRCm39) missense probably damaging 1.00
R4423:Top2a UTSW 11 98,892,231 (GRCm39) missense probably benign 0.00
R4425:Top2a UTSW 11 98,892,231 (GRCm39) missense probably benign 0.00
R4914:Top2a UTSW 11 98,893,786 (GRCm39) missense probably damaging 1.00
R4939:Top2a UTSW 11 98,900,918 (GRCm39) missense probably damaging 1.00
R4944:Top2a UTSW 11 98,888,676 (GRCm39) missense probably benign 0.37
R4971:Top2a UTSW 11 98,884,667 (GRCm39) missense probably damaging 1.00
R5362:Top2a UTSW 11 98,909,738 (GRCm39) missense probably damaging 1.00
R5477:Top2a UTSW 11 98,907,306 (GRCm39) nonsense probably null
R5499:Top2a UTSW 11 98,913,202 (GRCm39) missense probably benign 0.20
R5911:Top2a UTSW 11 98,907,291 (GRCm39) missense possibly damaging 0.92
R7126:Top2a UTSW 11 98,905,818 (GRCm39) missense probably benign 0.09
R7131:Top2a UTSW 11 98,895,008 (GRCm39) missense possibly damaging 0.75
R7174:Top2a UTSW 11 98,914,922 (GRCm39) start gained probably benign
R7329:Top2a UTSW 11 98,895,072 (GRCm39) missense possibly damaging 0.57
R7560:Top2a UTSW 11 98,891,663 (GRCm39) missense probably benign
R7563:Top2a UTSW 11 98,907,005 (GRCm39) missense probably damaging 1.00
R7740:Top2a UTSW 11 98,884,640 (GRCm39) missense probably benign 0.34
R7841:Top2a UTSW 11 98,913,176 (GRCm39) missense probably damaging 1.00
R8122:Top2a UTSW 11 98,889,993 (GRCm39) missense probably benign
R8260:Top2a UTSW 11 98,891,595 (GRCm39) missense probably null 0.87
R8504:Top2a UTSW 11 98,905,567 (GRCm39) missense probably benign
R8550:Top2a UTSW 11 98,886,744 (GRCm39) missense probably benign
R8558:Top2a UTSW 11 98,912,549 (GRCm39) missense probably damaging 1.00
R8693:Top2a UTSW 11 98,900,868 (GRCm39) missense probably damaging 1.00
R8851:Top2a UTSW 11 98,900,677 (GRCm39) missense probably damaging 1.00
R9143:Top2a UTSW 11 98,900,705 (GRCm39) missense probably benign 0.14
R9240:Top2a UTSW 11 98,901,368 (GRCm39) nonsense probably null
R9294:Top2a UTSW 11 98,891,904 (GRCm39) missense probably benign 0.00
R9301:Top2a UTSW 11 98,897,790 (GRCm39) missense probably damaging 0.99
R9383:Top2a UTSW 11 98,901,884 (GRCm39) nonsense probably null
R9450:Top2a UTSW 11 98,894,434 (GRCm39) missense possibly damaging 0.73
R9515:Top2a UTSW 11 98,902,970 (GRCm39) missense probably damaging 0.99
R9655:Top2a UTSW 11 98,905,334 (GRCm39) missense probably damaging 1.00
R9683:Top2a UTSW 11 98,887,683 (GRCm39) missense probably benign 0.21
R9689:Top2a UTSW 11 98,914,883 (GRCm39) missense probably benign 0.01
U24488:Top2a UTSW 11 98,913,252 (GRCm39) missense probably damaging 1.00
X0025:Top2a UTSW 11 98,886,767 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- GAGAAACATCACAAGTCCTGTTTTC -3'
(R):5'- GGAAACCCACATAGAAATTTTCAGC -3'

Sequencing Primer
(F):5'- CTGTCACTAGGATATGCTTACCAG -3'
(R):5'- CAGCTTTTTATGTAAGGCTCTACTG -3'
Posted On 2019-12-20