Incidental Mutation 'R5911:Top2a'
ID 461012
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 044108-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.970) question?
Stock # R5911 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 98883769-98915015 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 98907291 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 180 (T180S)
Ref Sequence ENSEMBL: ENSMUSP00000068896 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068031]
AlphaFold Q01320
Predicted Effect possibly damaging
Transcript: ENSMUST00000068031
AA Change: T180S

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068896
Gene: ENSMUSG00000020914
AA Change: T180S

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
Meta Mutation Damage Score 0.3267 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 92% (77/84)
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
1700003H04Rik C T 3: 124,350,380 (GRCm39) probably benign Het
Acacb A T 5: 114,370,951 (GRCm39) D1731V probably damaging Het
Afg3l1 G A 8: 124,226,778 (GRCm39) V563I possibly damaging Het
Ak7 A G 12: 105,692,471 (GRCm39) E175G probably damaging Het
Arhgap5 C T 12: 52,565,525 (GRCm39) T832I possibly damaging Het
Arid4a A T 12: 71,116,747 (GRCm39) T602S probably damaging Het
Caps2 C T 10: 112,001,591 (GRCm39) probably benign Het
Ccdc170 G T 10: 4,508,551 (GRCm39) E592* probably null Het
Clasp1 C A 1: 118,434,638 (GRCm39) probably benign Het
Crhbp T A 13: 95,568,564 (GRCm39) M291L probably benign Het
Cyp3a41b T A 5: 145,519,349 (GRCm39) L47F probably benign Het
Dgcr6 A G 16: 17,884,598 (GRCm39) D82G probably damaging Het
Drc7 A G 8: 95,800,754 (GRCm39) E592G probably damaging Het
Dtl G A 1: 191,300,519 (GRCm39) T115I probably damaging Het
Ece2 A G 16: 20,457,510 (GRCm39) Y338C probably damaging Het
Egr3 A G 14: 70,316,897 (GRCm39) D198G probably damaging Het
Ereg A C 5: 91,222,552 (GRCm39) probably benign Het
Esp31 G C 17: 38,951,933 (GRCm39) probably null Het
Faap100 T C 11: 120,267,958 (GRCm39) I272V possibly damaging Het
Fam3c T C 6: 22,328,560 (GRCm39) D109G probably damaging Het
Fam3c T A 6: 22,339,299 (GRCm39) M51L probably benign Het
Fcnb A T 2: 27,966,701 (GRCm39) N277K probably damaging Het
Fgfr1 A G 8: 26,009,325 (GRCm39) probably benign Het
Gpr158 T C 2: 21,373,932 (GRCm39) F289S possibly damaging Het
Grik4 C A 9: 42,502,720 (GRCm39) V468F probably damaging Het
Gtdc1 T A 2: 44,642,076 (GRCm39) R168S probably benign Het
Gucy2c C T 6: 136,699,440 (GRCm39) G610R probably damaging Het
Gulp1 A T 1: 44,793,534 (GRCm39) Q65L possibly damaging Het
Hectd1 A T 12: 51,849,035 (GRCm39) D356E probably damaging Het
Hnrnpu T C 1: 178,157,737 (GRCm39) probably benign Het
Igkv13-57-2 T C 6: 69,500,971 (GRCm39) noncoding transcript Het
Itih4 A G 14: 30,612,612 (GRCm39) I213V possibly damaging Het
Itpr2 T C 6: 146,214,441 (GRCm39) K1469E probably benign Het
Jkampl T C 6: 73,445,674 (GRCm39) T292A probably damaging Het
Jrk T C 15: 74,577,617 (GRCm39) D556G possibly damaging Het
Kctd16 A T 18: 40,663,905 (GRCm39) I345F probably benign Het
Klhdc1 A G 12: 69,303,025 (GRCm39) E187G possibly damaging Het
Lrch3 T C 16: 32,779,833 (GRCm39) Y111H probably damaging Het
Mlh3 A T 12: 85,315,229 (GRCm39) V319D probably damaging Het
Nsd3 T C 8: 26,156,092 (GRCm39) L553P probably damaging Het
Or1e23 T A 11: 73,407,351 (GRCm39) I225F probably damaging Het
Or51q1 A T 7: 103,628,915 (GRCm39) H172L probably benign Het
Or5d38 C T 2: 87,955,027 (GRCm39) V101I probably benign Het
Or5e1 T A 7: 108,354,882 (GRCm39) I273N probably benign Het
Or5p66 T A 7: 107,885,605 (GRCm39) T243S probably damaging Het
Or7g26 T C 9: 19,230,445 (GRCm39) I205T probably benign Het
Pelp1 C T 11: 70,287,740 (GRCm39) R394H probably damaging Het
Ppp1r13l G T 7: 19,109,817 (GRCm39) probably null Het
Prr5 C A 15: 84,585,635 (GRCm39) S201* probably null Het
Rad23b T A 4: 55,370,474 (GRCm39) probably null Het
Rasgef1a T A 6: 118,061,335 (GRCm39) probably null Het
Ryr3 A T 2: 112,738,832 (GRCm39) I565N probably damaging Het
Slc30a5 T C 13: 100,945,600 (GRCm39) N527S probably damaging Het
Slc39a5 T A 10: 128,235,812 (GRCm39) N49Y probably damaging Het
Spast T A 17: 74,694,058 (GRCm39) S571T probably benign Het
Spdye4c C T 2: 128,437,994 (GRCm39) R245* probably null Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tgm7 T A 2: 120,926,454 (GRCm39) D480V probably benign Het
Thpo T A 16: 20,547,546 (GRCm39) S22C probably null Het
Trim37 T A 11: 87,087,663 (GRCm39) Y34* probably null Het
Tsc2 T C 17: 24,819,361 (GRCm39) E1254G possibly damaging Het
Ttc39a C T 4: 109,280,168 (GRCm39) P150L possibly damaging Het
Ttc4 T C 4: 106,525,240 (GRCm39) D298G probably damaging Het
Ttll1 A G 15: 83,386,482 (GRCm39) V41A probably benign Het
Vmn1r20 C A 6: 57,408,774 (GRCm39) H33Q probably benign Het
Zan A T 5: 137,456,174 (GRCm39) Y1329N 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
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'- CCACGTCTATGGCAGTAAAGAAC -3'
(R):5'- AATTAGGCTGGTGCATGTAGC -3'

Sequencing Primer
(F):5'- TCTATGGCAGTAAAGAACAGGAAAG -3'
(R):5'- CCAGGTGGTCGAAATGG -3'
Posted On 2017-02-28