Incidental Mutation 'R7841:Top2a'
ID 606324
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 045895-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7841 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 98913176 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 85 (D85E)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably damaging
Transcript: ENSMUST00000068031
AA Change: D85E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: D85E

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: 99.0%
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700016H13Rik T C 5: 103,802,806 (GRCm39) K16R possibly damaging Het
2810408A11Rik A G 11: 69,790,112 (GRCm39) F210L probably benign Het
Adam6a G T 12: 113,509,078 (GRCm39) D484Y probably damaging Het
B9d1 A G 11: 61,397,192 (GRCm39) Y29C possibly damaging Het
Cald1 T C 6: 34,722,696 (GRCm39) F115L unknown Het
Ccnd1 A T 7: 144,491,718 (GRCm39) M107K probably damaging Het
Ccnh G A 13: 85,337,712 (GRCm39) A20T probably benign Het
Cep162 T C 9: 87,126,369 (GRCm39) D181G probably benign Het
Cep44 AACGC A 8: 56,994,018 (GRCm39) probably null Het
Ces2b A G 8: 105,561,692 (GRCm39) D262G probably benign Het
Cic A G 7: 24,985,192 (GRCm39) Y1146C probably damaging Het
Cmtm1 G A 8: 105,036,108 (GRCm39) R174C possibly damaging Het
Cobl G T 11: 12,203,324 (GRCm39) P1126H probably damaging Het
Col14a1 T A 15: 55,245,876 (GRCm39) M460K unknown Het
Cst11 G A 2: 148,613,227 (GRCm39) R33W possibly damaging Het
Cyp19a1 A T 9: 54,079,089 (GRCm39) V340E probably benign Het
Dbt A T 3: 116,339,746 (GRCm39) Q378L possibly damaging Het
Dchs1 A G 7: 105,412,180 (GRCm39) V1312A probably benign Het
Eif3l T C 15: 78,973,779 (GRCm39) M398T probably benign Het
Faxc A G 4: 21,958,584 (GRCm39) H247R probably benign Het
Fbxl17 T C 17: 63,794,820 (GRCm39) R421G probably damaging Het
Fbxo3 T A 2: 103,890,337 (GRCm39) D450E unknown Het
Fmn1 T C 2: 113,359,810 (GRCm39) probably null Het
Foxs1 T A 2: 152,774,907 (GRCm39) M49L possibly damaging Het
Gucy1a2 A G 9: 3,634,766 (GRCm39) E270G probably benign Het
Helz2 T C 2: 180,874,695 (GRCm39) D1933G probably damaging Het
Hspa4 G A 11: 53,157,887 (GRCm39) A572V possibly damaging Het
Ica1 T A 6: 8,737,072 (GRCm39) D174V probably damaging Het
Igfbp6 A T 15: 102,056,352 (GRCm39) Q137L possibly damaging Het
Il1r2 T C 1: 40,144,628 (GRCm39) L105P probably damaging Het
Iqca1 A T 1: 89,987,337 (GRCm39) C72S Het
Itgbl1 T C 14: 124,209,645 (GRCm39) probably null Het
Ivl T A 3: 92,479,699 (GRCm39) Q122L possibly damaging Het
Kdsr T C 1: 106,671,415 (GRCm39) E198G probably damaging Het
Lama2 T C 10: 27,031,529 (GRCm39) T1510A probably benign Het
Lrrc37a A T 11: 103,391,931 (GRCm39) Y1165N probably benign Het
Mycbp2 A G 14: 103,384,267 (GRCm39) probably null Het
Myh3 A G 11: 66,989,518 (GRCm39) E1546G probably damaging Het
Nacad A T 11: 6,551,031 (GRCm39) V720E probably benign Het
Napa A G 7: 15,849,559 (GRCm39) D257G possibly damaging Het
Nif3l1 T C 1: 58,487,042 (GRCm39) V76A probably damaging Het
Nkapd1 A C 9: 50,521,716 (GRCm39) S68R probably damaging Het
Nphp4 G A 4: 152,581,140 (GRCm39) S108N probably benign Het
Npr1 A T 3: 90,362,175 (GRCm39) L990H probably damaging Het
Nup205 A G 6: 35,224,372 (GRCm39) R322G unknown Het
Or4a79 C A 2: 89,552,309 (GRCm39) A49S probably benign Het
Or4q3 G T 14: 50,583,285 (GRCm39) Q174K probably benign Het
Or52n2c T A 7: 104,574,066 (GRCm39) I302F possibly damaging Het
Or8c14-ps1 T G 9: 38,101,777 (GRCm39) M252R unknown Het
Or8c19-ps1 T A 9: 38,220,817 (GRCm39) V242E unknown Het
Ovch2 G T 7: 107,393,298 (GRCm39) Q192K probably benign Het
Pcca T A 14: 122,800,384 (GRCm39) D91E probably benign Het
Pole2 T C 12: 69,251,032 (GRCm39) T444A probably damaging Het
Ppip5k1 T C 2: 121,173,276 (GRCm39) K466E probably benign Het
Prr35 A T 17: 26,167,458 (GRCm39) Y26* probably null Het
Ptgfrn A T 3: 100,968,126 (GRCm39) I489N probably damaging Het
Rassf1 A G 9: 107,438,744 (GRCm39) *341W probably null Het
Ret G A 6: 118,132,321 (GRCm39) P1040S probably damaging Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Rsf1 A AAGGCGACGG 7: 97,229,111 (GRCm39) probably null Het
Slc6a17 A T 3: 107,384,214 (GRCm39) Y377N possibly damaging Het
Snrnp200 C A 2: 127,078,754 (GRCm39) D1806E probably benign Het
Synj2 G A 17: 6,094,419 (GRCm39) R1215H unknown Het
Tbc1d5 TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG TTGCTGCTG 17: 51,106,950 (GRCm39) probably benign Het
Tram1l1 A T 3: 124,115,353 (GRCm39) Q171L probably damaging Het
Tram1l1 G T 3: 124,115,354 (GRCm39) Q171H probably damaging Het
Tspyl4 A G 10: 34,174,267 (GRCm39) H253R probably damaging Het
Ttn T C 2: 76,662,490 (GRCm39) I23V Het
Ubr5 T C 15: 37,981,150 (GRCm39) N2376D Het
Ugt2b37 T C 5: 87,398,489 (GRCm39) N316D probably benign Het
Usp31 A C 7: 121,247,679 (GRCm39) S1255A probably benign Het
Usp31 A T 7: 121,276,535 (GRCm39) V334E probably damaging Het
Vmn2r108 A G 17: 20,690,305 (GRCm39) probably null Het
Vmn2r87 T A 10: 130,333,095 (GRCm39) T52S probably benign Het
Vrk2 C A 11: 26,421,457 (GRCm39) L500F probably damaging Het
Zan T A 5: 137,435,064 (GRCm39) I2110F unknown 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
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'- CTGGACTTTATTGGACTGCTTC -3'
(R):5'- CCATCATTCATGTATATACTGCAGG -3'

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