Incidental Mutation 'R7174:Top2a'
ID 558503
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 045266-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R7174 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) C to A at 98914922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably benign
Transcript: ENSMUST00000068031
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914

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: 98.8%
Validation Efficiency 97% (61/63)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018F24Rik C A 5: 144,981,627 (GRCm39) A154E probably benign Het
Adamts1 C A 16: 85,596,060 (GRCm39) A419S probably benign Het
Arap2 C G 5: 62,761,621 (GRCm39) V1702L probably benign Het
Arpc1a C T 5: 145,034,087 (GRCm39) P152S probably benign Het
Bbs10 T A 10: 111,136,628 (GRCm39) C580* probably null Het
Bcam A G 7: 19,499,376 (GRCm39) Y216H probably damaging Het
C2cd3 T C 7: 100,081,405 (GRCm39) S1016P Het
Card6 TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG 15: 5,128,173 (GRCm39) probably benign Het
Cd86 CA CAA 16: 36,426,917 (GRCm39) probably null Het
Ceacam5 T A 7: 17,491,839 (GRCm39) probably null Het
Cfap57 A G 4: 118,446,264 (GRCm39) V666A probably benign Het
Cntn3 A G 6: 102,142,305 (GRCm39) F1021L probably benign Het
Cr1l C T 1: 194,811,497 (GRCm39) G119D probably benign Het
Fgf10 A T 13: 118,851,942 (GRCm39) H8L probably benign Het
Fras1 T A 5: 96,903,436 (GRCm39) probably null Het
Frem1 G T 4: 82,840,493 (GRCm39) T1811N probably benign Het
Fsd1 A T 17: 56,298,356 (GRCm39) Q227L probably benign Het
Galk2 A G 2: 125,738,621 (GRCm39) I138M probably damaging Het
Igkv8-30 A G 6: 70,094,582 (GRCm39) V7A possibly damaging Het
Katnb1 G A 8: 95,824,069 (GRCm39) A450T probably benign Het
Kif14 A T 1: 136,448,995 (GRCm39) E1465V possibly damaging Het
Klra3 A T 6: 130,312,941 (GRCm39) probably null Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,079,903 (GRCm39) probably benign Het
Lepr A G 4: 101,607,535 (GRCm39) N251S probably benign Het
Lrp2 T C 2: 69,263,416 (GRCm39) M4379V probably benign Het
Lrriq1 T C 10: 103,060,826 (GRCm39) N92S probably benign Het
Map3k13 A G 16: 21,745,006 (GRCm39) N855S probably damaging Het
Marf1 T A 16: 13,954,817 (GRCm39) D900V probably damaging Het
Nckap5l A T 15: 99,321,884 (GRCm39) M1087K probably benign Het
Nlrp9c T C 7: 26,084,722 (GRCm39) N286D probably benign Het
Or12j4 T C 7: 140,047,076 (GRCm39) *321Q probably null Het
Or13c7d C T 4: 43,770,691 (GRCm39) A107T not run Het
Or4k2 T C 14: 50,424,153 (GRCm39) I175V probably benign Het
Or51ah3 A T 7: 103,210,598 (GRCm39) R305* probably null Het
Or5g9 C T 2: 85,552,297 (GRCm39) P183S possibly damaging Het
Or5p72 T A 7: 108,022,367 (GRCm39) S196R probably benign Het
Pcdhga3 A G 18: 37,808,980 (GRCm39) T478A probably benign Het
Pdgfrb T C 18: 61,199,587 (GRCm39) I385T probably benign Het
Poteg C T 8: 27,943,305 (GRCm39) R192W probably benign Het
Prmt2 G T 10: 76,061,173 (GRCm39) D104E probably benign Het
Rgl2 T C 17: 34,153,964 (GRCm39) F457L possibly damaging Het
Rlbp1 T C 7: 79,027,090 (GRCm39) N190S possibly damaging Het
Ryr2 T C 13: 11,816,063 (GRCm39) D641G possibly damaging Het
Sh3gl1 A T 17: 56,324,846 (GRCm39) M303K probably benign Het
Slc26a5 A G 5: 22,018,892 (GRCm39) V649A probably damaging Het
Slco4c1 T C 1: 96,765,323 (GRCm39) N376D possibly damaging Het
Socs3 A T 11: 117,858,553 (GRCm39) Y168* probably null Het
Spata31d1d A T 13: 59,876,394 (GRCm39) N380K possibly damaging Het
Speer1c T C 5: 10,295,237 (GRCm39) K56E probably damaging Het
Ssbp3 A G 4: 106,894,843 (GRCm39) N254S probably benign Het
Stard10 C T 7: 100,995,226 (GRCm39) S326L probably damaging Het
Taf2 T C 15: 54,912,135 (GRCm39) D524G possibly damaging Het
Taf7 A T 18: 37,776,053 (GRCm39) S171R probably damaging Het
Tchh C T 3: 93,353,478 (GRCm39) R973C unknown Het
Tmem67 T C 4: 12,077,337 (GRCm39) R172G possibly damaging Het
Ttc8 T A 12: 98,940,960 (GRCm39) N323K possibly damaging Het
Txnl1 T C 18: 63,804,667 (GRCm39) N276D probably benign Het
Usp24 T G 4: 106,219,878 (GRCm39) probably null Het
Vmn1r18 A C 6: 57,366,609 (GRCm39) probably null Het
Vmn2r53 A T 7: 12,315,628 (GRCm39) H730Q probably benign Het
Wnk1 A C 6: 119,947,939 (GRCm39) I500M probably damaging Het
Zfp335 A T 2: 164,744,423 (GRCm39) Y451N probably damaging Het
Zfp683 T A 4: 133,783,064 (GRCm39) I176N 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
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'- TTCGGAAAGAGCTTCACCCAG -3'
(R):5'- AGACGATCTACGATTGGTTACTGC -3'

Sequencing Primer
(F):5'- CCAGAAGATGGGGCTGACC -3'
(R):5'- TGCAAACAGAGCCAATGAGAGC -3'
Posted On 2019-06-26