Incidental Mutation 'R0727:Top2a'
ID 200660
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 038909-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R0727 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 98902974 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 404 (C404*)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably null
Transcript: ENSMUST00000068031
AA Change: C404*
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: C404*

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000083328
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139730
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.1%
Validation Efficiency 99% (70/71)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,016,937 (GRCm39) V83A possibly damaging Het
Adam2 A G 14: 66,267,180 (GRCm39) I693T probably damaging Het
Adamts1 T C 16: 85,595,536 (GRCm39) D214G possibly damaging Het
Atp6v1h T A 1: 5,154,781 (GRCm39) Y36* probably null Het
Cacna1d A G 14: 29,852,072 (GRCm39) probably null Het
Catsperb G T 12: 101,560,614 (GRCm39) probably null Het
Ccdc88b T C 19: 6,831,582 (GRCm39) M482V probably benign Het
Cemip T C 7: 83,610,786 (GRCm39) K723E probably benign Het
Cep112 G A 11: 108,397,380 (GRCm39) R375H probably damaging Het
Cpne7 T C 8: 123,853,025 (GRCm39) S211P probably damaging Het
Csde1 A G 3: 102,950,954 (GRCm39) T191A probably benign Het
Dapk3 A G 10: 81,026,096 (GRCm39) Y129C probably damaging Het
Dlc1 A G 8: 37,039,828 (GRCm39) V1027A probably damaging Het
Ergic2 T A 6: 148,100,898 (GRCm39) probably benign Het
Evpl T C 11: 116,123,311 (GRCm39) H307R probably damaging Het
Faah A G 4: 115,862,257 (GRCm39) I242T probably damaging Het
Farsa T A 8: 85,587,933 (GRCm39) probably null Het
Fat3 A C 9: 15,907,995 (GRCm39) L2669R probably damaging Het
Fgfr4 C A 13: 55,304,041 (GRCm39) probably null Het
Gnl3 A G 14: 30,739,034 (GRCm39) S55P probably damaging Het
Grhl3 T A 4: 135,273,565 (GRCm39) K562N possibly damaging Het
H2bl1 A G 13: 99,120,735 (GRCm39) V97A probably benign Het
Hoxa9 A G 6: 52,201,294 (GRCm39) V249A probably damaging Het
Hyal1 T C 9: 107,455,601 (GRCm39) S304P possibly damaging Het
Igf1r T C 7: 67,861,906 (GRCm39) probably null Het
Kif3c A G 12: 3,416,776 (GRCm39) T266A probably benign Het
Lrp1b T C 2: 40,640,956 (GRCm39) D3496G probably benign Het
Man2b1 T G 8: 85,818,155 (GRCm39) V442G probably damaging Het
Mast1 T C 8: 85,648,044 (GRCm39) Y479C probably damaging Het
Mei1 A G 15: 81,954,350 (GRCm39) T52A probably benign Het
Micall1 A G 15: 79,004,978 (GRCm39) D150G probably benign Het
Muc4 A G 16: 32,590,221 (GRCm39) M2927V probably benign Het
Obi1 G C 14: 104,717,624 (GRCm39) L250V probably damaging Het
Or11h6 G T 14: 50,880,460 (GRCm39) V241L probably damaging Het
Or56b1b C T 7: 108,164,315 (GRCm39) R229H probably benign Het
Or5an10 T C 19: 12,276,458 (GRCm39) I13V probably benign Het
Or5w22 T A 2: 87,363,245 (GRCm39) Y289* probably null Het
Or8k27 T C 2: 86,276,282 (GRCm39) M15V probably benign Het
Or8k35 A T 2: 86,424,724 (GRCm39) Y149* probably null Het
Pabpc2 A C 18: 39,908,187 (GRCm39) Q484P probably benign Het
Pbld2 T A 10: 62,903,298 (GRCm39) V125D probably benign Het
Pkhd1l1 A G 15: 44,399,184 (GRCm39) T2083A possibly damaging Het
Pum2 A G 12: 8,794,465 (GRCm39) E785G probably damaging Het
Qser1 A G 2: 104,607,656 (GRCm39) probably benign Het
R3hcc1l A G 19: 42,564,514 (GRCm39) D29G probably damaging Het
Rabep1 T A 11: 70,791,318 (GRCm39) Y180* probably null Het
Rassf5 T C 1: 131,109,002 (GRCm39) S140G probably damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Resf1 A G 6: 149,227,320 (GRCm39) N122S possibly damaging Het
Rfpl4 T A 7: 5,118,292 (GRCm39) I93L probably benign Het
Ryr2 C T 13: 11,581,771 (GRCm39) G4798D probably damaging Het
Scaf11 G A 15: 96,317,324 (GRCm39) P747S probably damaging Het
Sgo2b T G 8: 64,380,816 (GRCm39) K672T probably damaging Het
Smg1 T C 7: 117,765,645 (GRCm39) probably benign Het
Sned1 G A 1: 93,209,376 (GRCm39) V830M possibly damaging Het
Ssh3 G T 19: 4,314,019 (GRCm39) H439Q probably damaging Het
Steap3 T A 1: 120,155,547 (GRCm39) T471S possibly damaging Het
Stk33 T A 7: 108,920,725 (GRCm39) I208L probably damaging Het
Sucnr1 A G 3: 59,994,081 (GRCm39) Y203C probably benign Het
Tlr11 T C 14: 50,598,926 (GRCm39) I304T possibly damaging Het
Trim43a G A 9: 88,464,199 (GRCm39) E37K probably benign Het
Zcwpw1 T C 5: 137,809,069 (GRCm39) probably benign Het
Zfhx4 A T 3: 5,466,133 (GRCm39) H2097L probably damaging Het
Zfp874b T C 13: 67,622,831 (GRCm39) K156E probably damaging Het
Zfyve16 T C 13: 92,630,386 (GRCm39) K1413E possibly damaging 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
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
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'- CGAGGCTTTAGGAATACATCCCCATACA -3'
(R):5'- AAGAGCCAGGGCTACTTATATCACACA -3'

Sequencing Primer
(F):5'- cctctgtctcccaagtgtc -3'
(R):5'- caccagaagagggcatcag -3'
Posted On 2014-05-23