Incidental Mutation 'R7126:Top2a'
ID 552340
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 045213-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7126 (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 G at 98905818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 285 (L285P)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably benign
Transcript: ENSMUST00000068031
AA Change: L285P

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: L285P

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: 99.1%
Validation Efficiency 97% (73/75)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik T C 3: 36,535,988 (GRCm39) C85R unknown Het
3110082I17Rik G T 5: 139,347,005 (GRCm39) H153Q unknown Het
Acadsb T C 7: 131,039,177 (GRCm39) I316T probably benign Het
Acsbg2 A T 17: 57,153,633 (GRCm39) N523K probably damaging Het
Ahnak C T 19: 8,979,723 (GRCm39) P336S possibly damaging Het
Ankdd1b A G 13: 96,566,370 (GRCm39) V277A possibly damaging Het
Aspm A G 1: 139,408,541 (GRCm39) Y2476C probably benign Het
Atg13 G A 2: 91,510,765 (GRCm39) R321W probably damaging Het
B4galt2 A G 4: 117,734,735 (GRCm39) F211S probably damaging Het
Baiap3 T A 17: 25,464,119 (GRCm39) T913S possibly damaging Het
Btbd18 A T 2: 84,496,546 (GRCm39) E61D possibly damaging Het
Btnl9 G T 11: 49,060,082 (GRCm39) S555R probably damaging Het
Cbs T A 17: 31,838,113 (GRCm39) M379L probably benign Het
Chd9 G A 8: 91,741,853 (GRCm39) G1614D unknown Het
Cmya5 G A 13: 93,226,448 (GRCm39) P2880L probably benign Het
Cnnm1 T C 19: 43,473,292 (GRCm39) S729P probably damaging Het
Cox16 T A 12: 81,518,940 (GRCm39) E70D probably benign Het
Cp A G 3: 20,034,788 (GRCm39) H699R probably damaging Het
Cyp2d26 T C 15: 82,678,209 (GRCm39) N56D probably benign Het
Dennd4c A G 4: 86,725,667 (GRCm39) Y707C probably damaging Het
Dnah5 A T 15: 28,349,983 (GRCm39) E2555D probably benign Het
Ess2 T C 16: 17,729,154 (GRCm39) T6A unknown Het
Filip1 A G 9: 79,805,577 (GRCm39) L59P possibly damaging Het
Fsip2 A G 2: 82,813,485 (GRCm39) N3268S possibly damaging Het
Gja10 A T 4: 32,601,014 (GRCm39) C457S probably benign Het
Gm4779 TCGGGGCCGGGGCCGGGGCCG TCGGGGCCGGGGCCGGGGCCGGGGCCG X: 100,837,777 (GRCm39) probably benign Het
Gm47959 G A 1: 82,978,503 (GRCm39) G57S unknown Het
Grep1 C T 17: 23,939,538 (GRCm39) V8I probably benign Het
Grid2 T A 6: 64,053,794 (GRCm39) V331E probably damaging Het
Inpp4a C A 1: 37,413,353 (GRCm39) H123Q probably benign Het
Ireb2 T A 9: 54,793,851 (GRCm39) Y260* probably null Het
Itpr2 G A 6: 146,259,294 (GRCm39) Q628* probably null Het
Kbtbd11 G A 8: 15,078,759 (GRCm39) A453T probably damaging Het
Kcnj2 A G 11: 110,963,648 (GRCm39) T347A probably damaging Het
Kif19b A T 5: 140,477,073 (GRCm39) D874V probably benign Het
Klhl12 A G 1: 134,395,521 (GRCm39) H161R probably damaging Het
Krt78 T C 15: 101,856,871 (GRCm39) E412G probably damaging Het
Lzic A G 4: 149,573,132 (GRCm39) I95V probably damaging Het
Mme C T 3: 63,276,322 (GRCm39) P700S probably damaging Het
Mroh2a G T 1: 88,182,657 (GRCm39) R1195L possibly damaging Het
Mthfd2 A G 6: 83,290,472 (GRCm39) V53A probably benign Het
Mtus1 A G 8: 41,468,439 (GRCm39) L210P probably damaging Het
Muc16 T C 9: 18,552,512 (GRCm39) T4594A probably benign Het
Niban1 T A 1: 151,590,318 (GRCm39) C537* probably null Het
Olfm5 A T 7: 103,809,187 (GRCm39) C208S probably damaging Het
Or10q1 T A 19: 13,726,887 (GRCm39) I139N possibly damaging Het
Or2ad1 A T 13: 21,326,888 (GRCm39) L113H probably damaging Het
Or7a39 T C 10: 78,715,411 (GRCm39) V135A possibly damaging Het
Parp12 T C 6: 39,088,670 (GRCm39) I189V probably benign Het
Plin1 T C 7: 79,376,412 (GRCm39) probably null Het
Prl7a1 C T 13: 27,826,402 (GRCm39) probably null Het
Ptpn23 T C 9: 110,217,812 (GRCm39) D711G probably benign Het
Rgs22 A T 15: 36,103,954 (GRCm39) I169N probably damaging Het
Scn7a G T 2: 66,587,630 (GRCm39) H24Q possibly damaging Het
Scrt2 C T 2: 151,935,006 (GRCm39) P53L probably damaging Het
Sh3rf1 A T 8: 61,802,458 (GRCm39) I264L probably benign Het
Smarcd1 A T 15: 99,607,206 (GRCm39) D393V probably damaging Het
Spag17 T G 3: 100,008,751 (GRCm39) N1960K probably benign Het
Ssb A G 2: 69,696,845 (GRCm39) T62A possibly damaging Het
Taar7b T A 10: 23,875,960 (GRCm39) Y42N possibly damaging Het
Terf1 A T 1: 15,883,363 (GRCm39) I159L probably benign Het
Tff3 T G 17: 31,346,410 (GRCm39) N54T probably benign Het
Trim24 A G 6: 37,896,392 (GRCm39) Y283C probably damaging Het
Trim58 T C 11: 58,531,405 (GRCm39) C38R probably damaging Het
Trpa1 T A 1: 14,960,648 (GRCm39) T647S probably benign Het
Trpm4 A T 7: 44,960,133 (GRCm39) probably null Het
Trpm6 C T 19: 18,831,397 (GRCm39) Q1421* probably null Het
Ubr2 A T 17: 47,284,982 (GRCm39) probably null Het
Vmn1r46 T G 6: 89,953,976 (GRCm39) I275S possibly damaging Het
Vmn2r54 A G 7: 12,366,088 (GRCm39) F282S possibly damaging Het
Vmn2r57 A G 7: 41,049,218 (GRCm39) S844P possibly damaging Het
Vps13a A C 19: 16,688,243 (GRCm39) C855G probably benign Het
Wdr31 T A 4: 62,381,666 (GRCm39) Q55L 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
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
R7894:Top2a UTSW 11 98,900,431 (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'- ACATGTCTGCCGCCCTAAAG -3'
(R):5'- GGACACCTAAATGCTGGTCC -3'

Sequencing Primer
(F):5'- TCGCAATGCTGTTGACG -3'
(R):5'- CACCTAAATGCTGGTCCTATTCAAG -3'
Posted On 2019-05-15