Incidental Mutation 'R5477:Top2a'
ID 434128
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 043038-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R5477 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 98907306 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Stop codon at position 175 (K175*)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect probably null
Transcript: ENSMUST00000068031
AA Change: K175*
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: K175*

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
Coding Region Coverage
  • 1x: 98.3%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 90.9%
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Aacs T C 5: 125,588,984 (GRCm39) Y421H probably damaging Het
Abca13 A G 11: 9,251,298 (GRCm39) K2890R possibly damaging Het
Aff4 T A 11: 53,299,299 (GRCm39) probably null Het
Brd10 A G 19: 29,731,518 (GRCm39) V498A probably benign Het
Cntn4 A T 6: 106,650,911 (GRCm39) Q698L possibly damaging Het
D5Ertd579e G T 5: 36,772,601 (GRCm39) S598Y probably damaging Het
Dmrt1 A G 19: 25,487,164 (GRCm39) M157V probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Gm10521 T A 1: 171,724,067 (GRCm39) M126K unknown Het
Hs2st1 A G 3: 144,262,709 (GRCm39) probably benign Het
Lats2 T C 14: 57,937,010 (GRCm39) D113G probably benign Het
Myo15a A C 11: 60,368,503 (GRCm39) D421A probably damaging Het
Or5k15 T A 16: 58,710,107 (GRCm39) I159F probably benign Het
Or5k17 A T 16: 58,746,393 (GRCm39) D180E possibly damaging Het
Or6z6 T C 7: 6,491,570 (GRCm39) Y94C probably benign Het
Pappa2 T A 1: 158,784,308 (GRCm39) D234V probably benign Het
Parl G T 16: 20,098,824 (GRCm39) T311K possibly damaging Het
Pias3 G A 3: 96,612,319 (GRCm39) R557H probably damaging Het
Pskh1 C T 8: 106,656,511 (GRCm39) R396C probably damaging Het
Rc3h2 T C 2: 37,289,642 (GRCm39) D390G possibly damaging Het
Ryr2 G T 13: 11,720,542 (GRCm39) P2702Q probably damaging Het
Senp6 C A 9: 80,051,125 (GRCm39) A961D probably damaging Het
Slc27a3 A G 3: 90,294,146 (GRCm39) S503P probably benign Het
Slc39a12 T C 2: 14,394,193 (GRCm39) V21A possibly damaging Het
Sox7 A G 14: 64,185,945 (GRCm39) Y327C probably damaging Het
Spdl1 A T 11: 34,713,037 (GRCm39) F288I possibly damaging Het
Ssbp2 T A 13: 91,812,244 (GRCm39) M127K probably damaging Het
Sspo A C 6: 48,475,327 (GRCm39) S5032R possibly damaging Het
Sycp1 A T 3: 102,726,206 (GRCm39) W973R probably damaging Het
Tm4sf5 C T 11: 70,401,174 (GRCm39) T130I probably benign Het
Trim30d T A 7: 104,121,347 (GRCm39) Y316F probably damaging Het
Vmn1r124 G A 7: 20,993,653 (GRCm39) P297L probably damaging Het
Zfp715 T C 7: 42,949,378 (GRCm39) Y194C 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
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'- ATCCATCCACGTCTATGGCAG -3'
(R):5'- CTGCCTGTGTAACCTGTAAGAG -3'

Sequencing Primer
(F):5'- TCCACGTCTATGGCAGTAAAG -3'
(R):5'- CCTGTGTAACCTGTAAGAGAGATTTG -3'
Posted On 2016-10-06