Incidental Mutation 'R5499:Top2a'
ID 430531
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 043060-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R5499 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98913202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 77 (V77I)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably benign
Transcript: ENSMUST00000068031
AA Change: V77I

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: V77I

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: ENSMUST00000129777
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139730
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.0%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933409G03Rik G A 2: 68,432,137 (GRCm39) E74K unknown Het
Adam10 A T 9: 70,647,399 (GRCm39) H176L probably benign Het
Anapc5 C T 5: 122,926,476 (GRCm39) E621K probably damaging Het
Asf1a T A 10: 53,482,266 (GRCm39) L26Q probably damaging Het
Atxn1l A G 8: 110,458,264 (GRCm39) L666P probably damaging Het
Cep290 G A 10: 100,373,515 (GRCm39) R1265H probably damaging Het
Chd8 A G 14: 52,441,888 (GRCm39) probably null Het
Ctse T A 1: 131,600,251 (GRCm39) Y333* probably null Het
Diras2 C T 13: 52,661,786 (GRCm39) V174M probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dnai7 A T 6: 145,123,157 (GRCm39) W570R probably damaging Het
Ercc6 G A 14: 32,238,916 (GRCm39) M1I probably null Het
Fbxl4 A G 4: 22,386,017 (GRCm39) E208G probably damaging Het
Fstl4 G T 11: 52,959,374 (GRCm39) M138I probably benign Het
Galnt17 T A 5: 130,929,466 (GRCm39) Q447L probably benign Het
H2-Q7 T A 17: 35,658,916 (GRCm39) C122* probably null Het
Herpud1 C T 8: 95,116,041 (GRCm39) L69F probably damaging Het
Hnrnpa3 A G 2: 75,495,584 (GRCm39) Y365C probably benign Het
Ino80 A T 2: 119,272,128 (GRCm39) V553E probably damaging Het
Kif13a A G 13: 46,986,212 (GRCm39) Y38H probably damaging Het
Klk1b21 A G 7: 43,755,100 (GRCm39) I132V probably benign Het
Lamb2 T C 9: 108,365,001 (GRCm39) S1252P possibly damaging Het
Lct T A 1: 128,214,414 (GRCm39) D1786V probably damaging Het
Lrig2 T A 3: 104,368,873 (GRCm39) M572L probably benign Het
Lrp1 C T 10: 127,408,813 (GRCm39) V1710I possibly damaging Het
Mmp12 C A 9: 7,353,000 (GRCm39) S250R probably benign Het
Mycbp2 T C 14: 103,479,615 (GRCm39) D1226G probably damaging Het
Myocd A G 11: 65,069,575 (GRCm39) I755T possibly damaging Het
Nup210l T C 3: 90,081,677 (GRCm39) L1003P probably damaging Het
Or11h23 G A 14: 50,948,324 (GRCm39) C179Y probably damaging Het
Or1af1 T C 2: 37,109,777 (GRCm39) I92T possibly damaging Het
Or52e8b A T 7: 104,674,184 (GRCm39) M1K probably null Het
Palmd T A 3: 116,717,481 (GRCm39) M339L probably benign Het
Phtf1 T A 3: 103,898,491 (GRCm39) N307K probably benign Het
Ppp2r3c T C 12: 55,335,411 (GRCm39) I243V probably benign Het
Ptafr A G 4: 132,306,646 (GRCm39) E12G probably damaging Het
Rpgrip1 T A 14: 52,378,042 (GRCm39) N463K probably benign Het
Sgcb T C 5: 73,801,748 (GRCm39) N39S probably damaging Het
Skint5 A G 4: 113,799,700 (GRCm39) probably null Het
Slc45a2 C T 15: 11,027,871 (GRCm39) T480I probably damaging Het
Slfn8 C A 11: 82,895,042 (GRCm39) S588I probably damaging Het
Tcea2 A G 2: 181,322,227 (GRCm39) I10V probably damaging Het
Tlr3 C T 8: 45,851,851 (GRCm39) D349N possibly damaging Het
Vps51 T G 19: 6,121,063 (GRCm39) E283D probably benign Het
Vrk1 A G 12: 106,018,024 (GRCm39) K98E possibly damaging Het
Zcchc2 C T 1: 105,958,322 (GRCm39) T931I possibly damaging Het
Zfc3h1 T A 10: 115,246,598 (GRCm39) L895H probably damaging Het
Zfp101 T C 17: 33,601,318 (GRCm39) E108G probably benign Het
Zfp609 A G 9: 65,610,137 (GRCm39) V942A 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
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'- TGCTGGCTTATTATAGCAACTTCTG -3'
(R):5'- CATCATTCATGTATATACTGCAGGC -3'

Sequencing Primer
(F):5'- TGCCCCAGAACTCATTATGTAG -3'
(R):5'- TTTGATCCCAACACTCAGGAGTCAG -3'
Posted On 2016-10-05