Incidental Mutation 'R7740:Top2a'
ID 596507
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 045796-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7740 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98884640 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1526 (D1526G)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably benign
Transcript: ENSMUST00000068031
AA Change: D1526G

PolyPhen 2 Score 0.336 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: D1526G

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (65/65)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930522L14Rik G A 5: 109,885,370 (GRCm39) Q163* probably null Het
Anxa6 T A 11: 54,898,725 (GRCm39) T150S probably damaging Het
Bpifb6 T A 2: 153,744,929 (GRCm39) L45Q probably damaging Het
Brwd1 T C 16: 95,828,568 (GRCm39) D1121G probably damaging Het
C1ql3 A G 2: 13,015,483 (GRCm39) I59T possibly damaging Het
Ccdc80 A G 16: 44,924,888 (GRCm39) H674R possibly damaging Het
Cdhr1 T G 14: 36,811,337 (GRCm39) E258A probably damaging Het
Ces2g T A 8: 105,692,962 (GRCm39) F333L probably damaging Het
Chn2 C T 6: 54,277,156 (GRCm39) T445I probably benign Het
Cpe T C 8: 65,050,562 (GRCm39) D382G possibly damaging Het
Crb1 T A 1: 139,165,428 (GRCm39) I960L probably benign Het
Cyp4a14 A T 4: 115,350,806 (GRCm39) V156D probably damaging Het
Ddx23 A T 15: 98,556,315 (GRCm39) M1K probably null Het
Dnajc7 T C 11: 100,482,387 (GRCm39) I202V probably benign Het
Dsn1 T A 2: 156,839,636 (GRCm39) D255V possibly damaging Het
Dvl3 A T 16: 20,346,000 (GRCm39) probably null Het
Epm2a A G 10: 11,266,684 (GRCm39) D143G possibly damaging Het
Erc1 T A 6: 119,738,149 (GRCm39) M565L probably benign Het
Fancm T C 12: 65,173,321 (GRCm39) C1878R possibly damaging Het
Gapvd1 T C 2: 34,590,834 (GRCm39) E946G probably damaging Het
Gm9195 C T 14: 72,678,113 (GRCm39) R2352K possibly damaging Het
Greb1 C A 12: 16,790,122 (GRCm39) probably benign Het
Haus5 G A 7: 30,362,678 (GRCm39) A44V possibly damaging Het
Herc4 A G 10: 63,105,457 (GRCm39) Y146C probably benign Het
Herc6 T G 6: 57,636,802 (GRCm39) probably null Het
Hivep2 G T 10: 14,003,414 (GRCm39) G4V probably damaging Het
Hsdl2 G T 4: 59,612,724 (GRCm39) G425V probably damaging Het
Igkv1-110 C T 6: 68,247,974 (GRCm39) L28F probably benign Het
Il21r T A 7: 125,231,727 (GRCm39) L385Q possibly damaging Het
Krtap5-1 ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG 7: 141,850,333 (GRCm39) probably benign Het
Krtap5-2 C T 7: 141,728,699 (GRCm39) C149Y unknown Het
Lingo2 T A 4: 35,709,248 (GRCm39) N244I probably damaging Het
Lrrk2 C T 15: 91,651,527 (GRCm39) R1728C probably damaging Het
Macf1 A G 4: 123,578,096 (GRCm39) probably benign Het
Malrd1 G A 2: 15,619,026 (GRCm39) V297I not run Het
Mars1 T A 10: 127,136,444 (GRCm39) E460D probably benign Het
Nr1i3 A G 1: 171,044,396 (GRCm39) I174V probably benign Het
Odf2 C T 2: 29,820,636 (GRCm39) T814M probably damaging Het
Or10q1 T C 19: 13,727,328 (GRCm39) V286A probably benign Het
Or4k1 T C 14: 50,377,803 (GRCm39) M98V probably benign Het
Or4k52 A T 2: 111,610,793 (GRCm39) I43F possibly damaging Het
Pcdhga8 T C 18: 37,860,470 (GRCm39) S509P probably benign Het
Pdzd2 A G 15: 12,374,102 (GRCm39) L2011S probably benign Het
Pole T A 5: 110,478,907 (GRCm39) S1930T probably benign Het
Poteg T A 8: 27,952,052 (GRCm39) probably null Het
Ptprk T A 10: 28,372,920 (GRCm39) C724S probably damaging Het
Rabgap1l T C 1: 160,509,673 (GRCm39) E468G probably benign Het
Rbm12b1 G T 4: 12,145,954 (GRCm39) R642L probably benign Het
Relch T C 1: 105,658,986 (GRCm39) V914A probably damaging Het
S1pr4 A T 10: 81,334,855 (GRCm39) Y206* probably null Het
Sim2 A G 16: 93,915,819 (GRCm39) I261V probably benign Het
Slc22a12 C A 19: 6,587,199 (GRCm39) A448S probably benign Het
Slc4a2 A G 5: 24,636,666 (GRCm39) probably null Het
Slc6a7 T C 18: 61,133,495 (GRCm39) E567G possibly damaging Het
St6gal1 T C 16: 23,139,785 (GRCm39) probably benign Het
Syne3 T C 12: 104,920,546 (GRCm39) K550R probably benign Het
Tekt1 T A 11: 72,250,544 (GRCm39) T51S probably benign Het
Tm9sf4 T A 2: 153,050,663 (GRCm39) V640E probably damaging Het
Tnfsf8 G T 4: 63,752,683 (GRCm39) H127Q possibly damaging Het
Tomm20 A G 8: 127,666,633 (GRCm39) L80S probably damaging Het
Trmt1l T C 1: 151,316,639 (GRCm39) V200A possibly damaging Het
Trpa1 A G 1: 14,982,625 (GRCm39) V77A possibly damaging Het
Vmn2r12 A T 5: 109,239,615 (GRCm39) V316D probably damaging Het
Vmn2r14 A T 5: 109,368,324 (GRCm39) L223M probably benign Het
Zfp2 T C 11: 50,791,605 (GRCm39) H146R probably damaging Het
Zfp52 T C 17: 21,781,252 (GRCm39) S367P probably 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
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
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'- CCTCGACAGCATGTTACAGAG -3'
(R):5'- TGCGACTCTTGCTTTGGACC -3'

Sequencing Primer
(F):5'- CATGTTACAGAGAGCAAAGCTG -3'
(R):5'- CTCTGGAGGTATAGAACTACCCTAG -3'
Posted On 2019-11-26