Incidental Mutation 'R9562:Top2b'
ID 721136
Institutional Source Beutler Lab
Gene Symbol Top2b
Ensembl Gene ENSMUSG00000017485
Gene Name topoisomerase (DNA) II beta
Synonyms Top-2, D230016L12Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.924) question?
Stock # R9562 (G1)
Quality Score 127.008
Status Not validated
Chromosome 14
Chromosomal Location 6038976-6104585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 16365718 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Proline at position 14 (T14P)
Ref Sequence ENSEMBL: ENSMUSP00000017629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017629]
AlphaFold Q64511
Predicted Effect probably benign
Transcript: ENSMUST00000017629
AA Change: T14P

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000017629
Gene: ENSMUSG00000017485
AA Change: T14P

DomainStartEndE-ValueType
Blast:TOP2c 32 70 7e-10 BLAST
HATPase_c 85 234 1.91e-2 SMART
TOP2c 89 679 N/A SMART
TOP4c 702 1175 2.55e-230 SMART
low complexity region 1201 1215 N/A INTRINSIC
low complexity region 1287 1299 N/A INTRINSIC
low complexity region 1324 1336 N/A INTRINSIC
low complexity region 1360 1382 N/A INTRINSIC
Pfam:DTHCT 1495 1597 4.6e-31 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 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, beta, is localized to chromosome 3 and the alpha form is localized to chromosome 17. 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
PHENOTYPE: Homozygous null mice exhibit abnormal innervation. Offspring die shortly after birth due to respiratory failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 129 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C A 5: 114,371,397 (GRCm39) P1842Q probably damaging Het
Aco2 G A 15: 81,773,635 (GRCm39) R58Q probably null Het
Acvr1 T C 2: 58,338,385 (GRCm39) K446E probably damaging Het
Adam39 T C 8: 41,277,755 (GRCm39) Y49H probably benign Het
Afg3l2 C T 18: 67,554,365 (GRCm39) V446M probably damaging Het
Aire A G 10: 77,871,579 (GRCm39) V397A probably benign Het
Ankdd1a C T 9: 65,411,452 (GRCm39) A352T possibly damaging Het
Aoc1l2 T C 6: 48,907,909 (GRCm39) M303T probably benign Het
Arfip2 T C 7: 105,286,079 (GRCm39) D270G possibly damaging Het
Arl4c A G 1: 88,629,134 (GRCm39) C85R probably damaging Het
Arpp21 A C 9: 111,956,354 (GRCm39) V541G possibly damaging Het
Atp2a3 T A 11: 72,873,578 (GRCm39) M817K probably damaging Het
Bahcc1 C T 11: 120,150,035 (GRCm39) H106Y possibly damaging Het
Bcl9l A G 9: 44,412,076 (GRCm39) S21G possibly damaging Het
C7 T A 15: 5,086,579 (GRCm39) probably null Het
Cabcoco1 T C 10: 68,272,725 (GRCm39) D220G possibly damaging Het
Cacna1e T A 1: 154,283,486 (GRCm39) D1960V probably benign Het
Casp4 A T 9: 5,324,832 (GRCm39) T215S probably damaging Het
Ccdc187 T C 2: 26,183,698 (GRCm39) S101G possibly damaging Het
Cdk12 A G 11: 98,140,628 (GRCm39) N1290D unknown Het
Cdo1 C A 18: 46,861,104 (GRCm39) V36L probably benign Het
Col5a3 G A 9: 20,714,429 (GRCm39) A381V unknown Het
Cspg4b T C 13: 113,504,574 (GRCm39) I1901T Het
Dcpp2 A G 17: 24,119,453 (GRCm39) E89G probably damaging Het
Dhx57 G T 17: 80,561,817 (GRCm39) A899E probably damaging Het
Dnaaf1 T C 8: 120,309,392 (GRCm39) I160T probably damaging Het
Dnah1 C A 14: 30,986,394 (GRCm39) A3698S probably damaging Het
Dnah12 C A 14: 26,597,281 (GRCm39) R3547S possibly damaging Het
Dnah3 A G 7: 119,610,114 (GRCm39) V1774A probably benign Het
Dop1a G A 9: 86,424,811 (GRCm39) R2085Q probably damaging Het
Duox1 T C 2: 122,151,203 (GRCm39) Y293H probably damaging Het
Efcab5 G A 11: 77,022,934 (GRCm39) T593I probably damaging Het
Elp1 G T 4: 56,772,521 (GRCm39) P867T probably benign Het
Epas1 T A 17: 87,112,667 (GRCm39) D88E probably damaging Het
Epdr1 A G 13: 19,778,821 (GRCm39) F92L possibly damaging Het
Ercc6 T C 14: 32,296,924 (GRCm39) W1305R probably damaging Het
Etv6 A G 6: 134,225,672 (GRCm39) N212S probably benign Het
Fam20b A T 1: 156,530,010 (GRCm39) Y141* probably null Het
Fancm A G 12: 65,168,494 (GRCm39) N1619S probably damaging Het
Fbln5 A T 12: 101,734,722 (GRCm39) N183K probably damaging Het
Fer1l6 A G 15: 58,490,370 (GRCm39) D976G possibly damaging Het
Fgb T C 3: 82,952,409 (GRCm39) probably null Het
Fhod1 A T 8: 106,074,422 (GRCm39) Y22N unknown Het
Foxl3 C A 5: 138,807,213 (GRCm39) Q164K probably benign Het
Galm C T 17: 80,490,859 (GRCm39) Q166* probably null Het
Gbe1 A T 16: 70,198,664 (GRCm39) Y119F probably benign Het
Gcnt7 T A 2: 172,293,180 (GRCm39) Y369F probably damaging Het
Gdap2 T C 3: 100,099,006 (GRCm39) I366T possibly damaging Het
Gm14295 T C 2: 176,499,162 (GRCm39) V4A probably benign Het
Gm32742 T A 9: 51,068,327 (GRCm39) Y249F probably benign Het
Gm40460 A T 7: 141,794,701 (GRCm39) C39S unknown Het
Gm6370 T A 5: 146,429,281 (GRCm39) C120* probably null Het
Harbi1 T A 2: 91,542,698 (GRCm39) L53* probably null Het
Herc3 A G 6: 58,835,999 (GRCm39) N280S probably null Het
Hipk2 T A 6: 38,724,390 (GRCm39) R447W probably damaging Het
Hydin A G 8: 111,312,786 (GRCm39) I4176V probably benign Het
Ifi211 A T 1: 173,733,052 (GRCm39) I203N probably benign Het
Kcnc1 G A 7: 46,077,010 (GRCm39) V271M probably benign Het
Kcng1 T A 2: 168,104,797 (GRCm39) I350F probably damaging Het
Kif21b A T 1: 136,077,090 (GRCm39) I371F probably damaging Het
Klrc1 A G 6: 129,655,746 (GRCm39) F43S probably damaging Het
Krtap6-2 A G 16: 89,216,722 (GRCm39) S82P unknown Het
Lamb1 T A 12: 31,322,492 (GRCm39) M186K probably damaging Het
Lrig2 T C 3: 104,375,924 (GRCm39) K451E possibly damaging Het
Lrrc15 G A 16: 30,093,016 (GRCm39) L108F probably damaging Het
Mark3 A G 12: 111,570,960 (GRCm39) I87V probably damaging Het
Mlh1 T C 9: 111,060,013 (GRCm39) K622E Het
Mrgprb2 G A 7: 48,202,674 (GRCm39) T17M possibly damaging Het
Msantd5f4 G T 4: 73,557,190 (GRCm39) V8F probably damaging Het
Mtmr4 C T 11: 87,493,241 (GRCm39) R225C probably damaging Het
Nfatc1 A G 18: 80,678,916 (GRCm39) L824P probably damaging Het
Nlrp4f A T 13: 65,347,053 (GRCm39) D46E probably damaging Het
Oga CTCGGGTC CTC 19: 45,743,096 (GRCm39) probably null Het
Or10h5 G T 17: 33,434,415 (GRCm39) T301N probably benign Het
Or13n4 A C 7: 106,423,020 (GRCm39) F238V probably damaging Het
Or1l4 G T 2: 37,091,575 (GRCm39) M107I probably benign Het
Or2w25 T A 11: 59,504,580 (GRCm39) N263K probably damaging Het
Or6z7 G C 7: 6,483,243 (GRCm39) A304G probably null Het
Or7e173 T A 9: 19,939,045 (GRCm39) Y63F probably damaging Het
Or8b1 G T 9: 38,400,092 (GRCm39) A256S possibly damaging Het
Otulin A G 15: 27,608,812 (GRCm39) Y244H probably damaging Het
Pabpc4 T C 4: 123,180,653 (GRCm39) I125T probably damaging Het
Parp14 A G 16: 35,677,775 (GRCm39) I731T probably benign Het
Parp8 T C 13: 117,029,631 (GRCm39) T531A probably benign Het
Parvg G T 15: 84,213,065 (GRCm39) V49L probably benign Het
Pcdha12 T C 18: 37,155,284 (GRCm39) S668P probably damaging Het
Pcdhb9 A C 18: 37,534,665 (GRCm39) N220H probably benign Het
Pcdhga4 T G 18: 37,819,527 (GRCm39) S359A probably benign Het
Pi4k2b T A 5: 52,908,799 (GRCm39) S208R probably damaging Het
Plxnb2 T C 15: 89,050,136 (GRCm39) Y487C probably damaging Het
Pm20d1 G A 1: 131,730,501 (GRCm39) V252I probably damaging Het
Pxdc1 T A 13: 34,836,258 (GRCm39) H54L probably damaging Het
Rag1 A T 2: 101,473,327 (GRCm39) V605E probably damaging Het
Rasgrf2 A T 13: 92,034,469 (GRCm39) probably null Het
Relch T C 1: 105,591,876 (GRCm39) V15A probably damaging Het
Rflnb T A 11: 75,912,951 (GRCm39) T146S probably damaging Het
Rfx5 T A 3: 94,866,639 (GRCm39) L646Q unknown Het
Rnf43 A G 11: 87,618,891 (GRCm39) T81A probably benign Het
Ros1 T C 10: 51,943,170 (GRCm39) D2048G probably damaging Het
Rpl13a-ps1 T A 19: 50,018,612 (GRCm39) K188I possibly damaging Het
Rpl24 T A 16: 55,790,509 (GRCm39) S122T probably benign Het
Ryr2 G A 13: 11,760,104 (GRCm39) T1549M probably damaging Het
Sbf2 T C 7: 110,040,702 (GRCm39) Q375R possibly damaging Het
Sec23a A T 12: 59,048,817 (GRCm39) F131I possibly damaging Het
Secisbp2 T C 13: 51,837,320 (GRCm39) I827T probably damaging Het
Serpinb6d A G 13: 33,854,756 (GRCm39) R244G probably benign Het
Skor2 C T 18: 76,946,376 (GRCm39) H33Y unknown Het
Snx17 C A 5: 31,355,088 (GRCm39) Q368K probably damaging Het
Stac T A 9: 111,401,411 (GRCm39) E345V probably benign Het
Stx4a A G 7: 127,445,375 (GRCm39) N164S possibly damaging Het
Tasor T C 14: 27,201,766 (GRCm39) probably null Het
Tbcb A T 7: 29,930,549 (GRCm39) probably null Het
Tecpr2 T C 12: 110,914,141 (GRCm39) S1151P possibly damaging Het
Timm50 A G 7: 28,007,069 (GRCm39) F202S possibly damaging Het
Tle2 A G 10: 81,417,567 (GRCm39) D244G probably benign Het
Tlr4 G A 4: 66,759,522 (GRCm39) V772I possibly damaging Het
Tmem214 G A 5: 31,027,043 (GRCm39) W11* probably null Het
Tmem241 A T 18: 12,176,356 (GRCm39) L227* probably null Het
Trim44 T C 2: 102,187,827 (GRCm39) T309A probably benign Het
Trps1 A C 15: 50,524,657 (GRCm39) I1091S probably damaging Het
Tspan2 C A 3: 102,672,583 (GRCm39) T200K probably damaging Het
Tuba8 A G 6: 121,200,063 (GRCm39) N249S probably benign Het
Vmn1r189 A G 13: 22,286,426 (GRCm39) L137P probably damaging Het
Vmn2r29 A T 7: 7,244,855 (GRCm39) W340R probably benign Het
Vmn2r52 A C 7: 9,893,476 (GRCm39) D554E probably benign Het
Zc3h4 C G 7: 16,168,891 (GRCm39) P1075R unknown Het
Zfp599 A G 9: 22,160,999 (GRCm39) S389P probably damaging Het
Zfp777 A T 6: 48,021,580 (GRCm39) V14D possibly damaging Het
Zswim8 C T 14: 20,762,150 (GRCm39) Q262* probably null Het
Other mutations in Top2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Top2b APN 14 16,422,692 (GRCm38) missense probably benign 0.00
IGL00730:Top2b APN 14 16,389,831 (GRCm38) missense probably damaging 1.00
IGL00917:Top2b APN 14 16,407,354 (GRCm38) missense probably benign 0.05
IGL01959:Top2b APN 14 16,422,695 (GRCm38) missense probably benign 0.19
IGL02019:Top2b APN 14 16,409,965 (GRCm38) missense probably benign 0.44
IGL02119:Top2b APN 14 16,406,733 (GRCm38) missense probably damaging 1.00
IGL02136:Top2b APN 14 16,407,103 (GRCm38) unclassified probably benign
IGL02148:Top2b APN 14 16,400,488 (GRCm38) missense probably damaging 1.00
IGL02496:Top2b APN 14 16,387,335 (GRCm38) missense probably benign
IGL02503:Top2b APN 14 16,407,163 (GRCm38) missense possibly damaging 0.92
IGL02672:Top2b APN 14 16,409,166 (GRCm38) unclassified probably benign
IGL02721:Top2b APN 14 16,409,236 (GRCm38) missense probably damaging 1.00
IGL02886:Top2b APN 14 16,365,688 (GRCm38) missense possibly damaging 0.73
IGL03252:Top2b APN 14 16,393,163 (GRCm38) missense possibly damaging 0.60
PIT4434001:Top2b UTSW 14 16,423,780 (GRCm38) critical splice donor site probably null
R0092:Top2b UTSW 14 16,409,263 (GRCm38) missense probably damaging 1.00
R0201:Top2b UTSW 14 16,383,174 (GRCm38) missense probably damaging 1.00
R0390:Top2b UTSW 14 16,418,442 (GRCm38) missense probably benign 0.00
R0394:Top2b UTSW 14 16,413,556 (GRCm38) splice site probably null
R1159:Top2b UTSW 14 16,430,329 (GRCm38) missense possibly damaging 0.81
R1424:Top2b UTSW 14 16,383,177 (GRCm38) missense probably damaging 1.00
R1519:Top2b UTSW 14 16,408,953 (GRCm38) splice site probably null
R1561:Top2b UTSW 14 16,398,993 (GRCm38) missense possibly damaging 0.80
R1713:Top2b UTSW 14 16,409,823 (GRCm38) missense probably benign 0.05
R1987:Top2b UTSW 14 16,398,916 (GRCm38) missense probably damaging 0.99
R2219:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R2287:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R2422:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R2679:Top2b UTSW 14 16,413,947 (GRCm38) missense probably damaging 1.00
R3687:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3707:Top2b UTSW 14 16,388,447 (GRCm38) missense probably damaging 1.00
R3810:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3812:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3815:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3816:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R3818:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4023:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4025:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4026:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4133:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4157:Top2b UTSW 14 16,384,491 (GRCm38) missense probably benign 0.42
R4179:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4180:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4300:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4376:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4377:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4492:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4549:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4550:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4581:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4582:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4628:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4630:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4667:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4668:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4669:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R4698:Top2b UTSW 14 16,387,331 (GRCm38) nonsense probably null
R4769:Top2b UTSW 14 16,398,991 (GRCm38) missense probably damaging 1.00
R4809:Top2b UTSW 14 16,383,125 (GRCm38) missense probably benign 0.06
R4899:Top2b UTSW 14 16,387,313 (GRCm38) missense probably damaging 1.00
R5035:Top2b UTSW 14 16,409,966 (GRCm38) missense probably benign 0.01
R5621:Top2b UTSW 14 16,387,280 (GRCm38) missense probably damaging 1.00
R5631:Top2b UTSW 14 16,409,882 (GRCm38) missense probably damaging 1.00
R5685:Top2b UTSW 14 16,413,666 (GRCm38) missense probably damaging 1.00
R5732:Top2b UTSW 14 16,400,106 (GRCm38) missense possibly damaging 0.92
R5939:Top2b UTSW 14 16,422,786 (GRCm38) missense probably damaging 0.96
R6007:Top2b UTSW 14 16,423,779 (GRCm38) critical splice donor site probably null
R6087:Top2b UTSW 14 16,409,864 (GRCm38) missense probably benign 0.14
R6144:Top2b UTSW 14 16,423,740 (GRCm38) missense possibly damaging 0.48
R6196:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R6218:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R6229:Top2b UTSW 14 16,409,838 (GRCm38) missense probably damaging 1.00
R6249:Top2b UTSW 14 16,399,006 (GRCm38) missense probably damaging 1.00
R6337:Top2b UTSW 14 16,399,026 (GRCm38) missense possibly damaging 0.77
R6353:Top2b UTSW 14 16,416,671 (GRCm38) missense probably damaging 1.00
R6512:Top2b UTSW 14 16,409,854 (GRCm38) missense possibly damaging 0.94
R6573:Top2b UTSW 14 16,398,991 (GRCm38) missense probably damaging 1.00
R6614:Top2b UTSW 14 16,407,142 (GRCm38) nonsense probably null
R6844:Top2b UTSW 14 16,429,383 (GRCm38) missense possibly damaging 0.94
R6848:Top2b UTSW 14 16,409,958 (GRCm38) missense possibly damaging 0.89
R6871:Top2b UTSW 14 16,409,189 (GRCm38) missense probably damaging 1.00
R6895:Top2b UTSW 14 16,413,604 (GRCm38) missense probably benign 0.06
R7162:Top2b UTSW 14 16,416,653 (GRCm38) missense probably benign 0.00
R7247:Top2b UTSW 14 16,416,962 (GRCm38) missense probably benign 0.08
R7250:Top2b UTSW 14 16,420,411 (GRCm38) missense probably benign
R7359:Top2b UTSW 14 16,407,376 (GRCm38) missense probably null 1.00
R7365:Top2b UTSW 14 16,416,649 (GRCm38) missense probably benign 0.04
R7493:Top2b UTSW 14 16,416,605 (GRCm38) missense probably benign 0.00
R7528:Top2b UTSW 14 16,395,427 (GRCm38) nonsense probably null
R7562:Top2b UTSW 14 16,412,946 (GRCm38) missense probably benign 0.04
R7594:Top2b UTSW 14 16,428,587 (GRCm38) missense probably benign
R7670:Top2b UTSW 14 16,416,620 (GRCm38) missense possibly damaging 0.61
R7894:Top2b UTSW 14 16,413,081 (GRCm38) missense possibly damaging 0.68
R8031:Top2b UTSW 14 16,412,986 (GRCm38) missense probably damaging 0.98
R8150:Top2b UTSW 14 16,393,291 (GRCm38) missense probably damaging 0.99
R8214:Top2b UTSW 14 16,383,177 (GRCm38) missense probably damaging 1.00
R8299:Top2b UTSW 14 16,386,123 (GRCm38) missense possibly damaging 0.68
R8977:Top2b UTSW 14 16,393,239 (GRCm38) missense probably benign 0.36
R9565:Top2b UTSW 14 16,365,718 (GRCm38) missense probably benign 0.09
R9798:Top2b UTSW 14 16,389,845 (GRCm38) missense probably damaging 1.00
X0028:Top2b UTSW 14 16,384,499 (GRCm38) nonsense probably null
Z1176:Top2b UTSW 14 16,395,434 (GRCm38) missense probably damaging 1.00
Z1177:Top2b UTSW 14 16,416,953 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTAGTCCTCGACCACTCTGTAG -3'
(R):5'- AGCATTGTTCAGCAGCCTG -3'

Sequencing Primer
(F):5'- CGCGCTCGAGTTTGAGG -3'
(R):5'- TCAGCAGCCTGAGCCTTG -3'
Posted On 2022-08-09