Incidental Mutation 'R6229:Top2b'
ID 504578
Institutional Source Beutler Lab
Gene Symbol Top2b
Ensembl Gene ENSMUSG00000017485
Gene Name topoisomerase (DNA) II beta
Synonyms Top-2, D230016L12Rik
MMRRC Submission 044358-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.929) question?
Stock # R6229 (G1)
Quality Score 225.009
Status Validated
Chromosome 14
Chromosomal Location 6038976-6104585 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 16409838 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Arginine at position 835 (L835R)
Ref Sequence ENSEMBL: ENSMUSP00000017629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017629] [ENSMUST00000161693]
AlphaFold Q64511
Predicted Effect probably damaging
Transcript: ENSMUST00000017629
AA Change: L835R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000017629
Gene: ENSMUSG00000017485
AA Change: L835R

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159302
SMART Domains Protein: ENSMUSP00000123789
Gene: ENSMUSG00000017485

DomainStartEndE-ValueType
TOP4c 1 177 4.06e-6 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000160501
SMART Domains Protein: ENSMUSP00000124889
Gene: ENSMUSG00000017485

DomainStartEndE-ValueType
TOP4c 2 222 3.97e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161693
SMART Domains Protein: ENSMUSP00000123992
Gene: ENSMUSG00000017485

DomainStartEndE-ValueType
Pfam:DNA_topoisoIV 1 117 1.2e-12 PFAM
low complexity region 161 173 N/A INTRINSIC
low complexity region 198 210 N/A INTRINSIC
low complexity region 234 256 N/A INTRINSIC
Meta Mutation Damage Score 0.9543 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.3%
  • 20x: 95.0%
Validation Efficiency 99% (69/70)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110009E18Rik G A 1: 120,099,213 (GRCm39) probably null Het
Adamts6 G A 13: 104,483,900 (GRCm39) probably null Het
Add3 C A 19: 53,223,277 (GRCm39) A343D probably benign Het
Ankub1 T C 3: 57,572,528 (GRCm39) D398G probably benign Het
Apbb1 C T 7: 105,222,937 (GRCm39) A225T probably damaging Het
Apbb1 C A 7: 105,222,938 (GRCm39) W224C probably damaging Het
Arhgef40 A T 14: 52,227,547 (GRCm39) Q431L probably benign Het
Calm4 A G 13: 3,888,038 (GRCm39) D48G possibly damaging Het
Ccdc18 A T 5: 108,319,484 (GRCm39) I502L probably benign Het
Cftr T C 6: 18,220,683 (GRCm39) S185P probably damaging Het
Chd2 C A 7: 73,101,471 (GRCm39) K1418N possibly damaging Het
Cmya5 A C 13: 93,229,814 (GRCm39) V1758G probably benign Het
Cpsf4l T C 11: 113,599,680 (GRCm39) K35R possibly damaging Het
Cyp2c68 A T 19: 39,727,622 (GRCm39) V119E probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah3 G T 7: 119,564,711 (GRCm39) Q2651K probably benign Het
Eif4g2 T C 7: 110,676,920 (GRCm39) probably null Het
Enc1 A G 13: 97,381,999 (GRCm39) R170G probably benign Het
Enpp2 T C 15: 54,741,228 (GRCm39) R357G probably damaging Het
Epb41l2 A G 10: 25,375,734 (GRCm39) K58E possibly damaging Het
Fis1 A G 5: 136,994,528 (GRCm39) probably null Het
Fmo9 A C 1: 166,505,126 (GRCm39) M89R possibly damaging Het
Gm6096 A C 7: 33,950,676 (GRCm39) I72L possibly damaging Het
Golga5 G A 12: 102,450,740 (GRCm39) M464I probably benign Het
Got1l1 T C 8: 27,688,464 (GRCm39) probably null Het
Ift56 T A 6: 38,371,975 (GRCm39) N188K probably benign Het
Igfbpl1 A G 4: 45,813,517 (GRCm39) Y233H probably damaging Het
Il18r1 T C 1: 40,513,923 (GRCm39) I43T probably benign Het
Ints8 T C 4: 11,252,891 (GRCm39) N64D probably damaging Het
Kalrn A G 16: 33,875,441 (GRCm39) S44P probably damaging Het
Kif13b G T 14: 64,976,016 (GRCm39) G444W probably damaging Het
Lmo1 A G 7: 108,742,832 (GRCm39) C13R probably damaging Het
Lrfn2 T A 17: 49,404,160 (GRCm39) M761K possibly damaging Het
Lrrd1 T C 5: 3,913,887 (GRCm39) I719T probably damaging Het
Madd A T 2: 90,974,015 (GRCm39) V1423E probably damaging Het
Mbnl1 T A 3: 60,528,749 (GRCm39) probably null Het
Mrps28 T C 3: 8,965,097 (GRCm39) D114G probably damaging Het
Muc6 T A 7: 141,226,792 (GRCm39) M1412L probably benign Het
Myf6 T C 10: 107,330,280 (GRCm39) K96E possibly damaging Het
Myrf A G 19: 10,197,162 (GRCm39) V462A probably benign Het
Nbeal1 T C 1: 60,287,524 (GRCm39) S923P possibly damaging Het
Nckap1l T C 15: 103,381,549 (GRCm39) L430P possibly damaging Het
Nfatc2ip C T 7: 125,995,113 (GRCm39) probably null Het
Or11g24 A G 14: 50,662,662 (GRCm39) R229G probably benign Het
Or12e10 G T 2: 87,640,431 (GRCm39) C89F probably damaging Het
Or2w4 T C 13: 21,795,819 (GRCm39) I107V probably benign Het
Or7g33 T A 9: 19,449,014 (GRCm39) I71F possibly damaging Het
Plin2 A G 4: 86,586,903 (GRCm39) V5A probably benign Het
Pramel31 T C 4: 144,090,199 (GRCm39) M413T probably benign Het
Ptprm T A 17: 66,995,295 (GRCm39) D1311V probably damaging Het
Recql5 A T 11: 115,821,540 (GRCm39) I72N probably damaging Het
Sall2 A T 14: 52,550,648 (GRCm39) M847K probably benign Het
Slc23a1 T C 18: 35,752,577 (GRCm39) R567G probably benign Het
Slc28a1 G A 7: 80,774,753 (GRCm39) R200H probably benign Het
Smc4 T A 3: 68,937,580 (GRCm39) Y843* probably null Het
Syne2 C A 12: 75,967,994 (GRCm39) Q915K probably benign Het
Tas2r131 T A 6: 132,933,985 (GRCm39) I275F probably damaging Het
Tcf20 T C 15: 82,739,081 (GRCm39) H790R probably damaging Het
Tm7sf3 A G 6: 146,514,887 (GRCm39) F310S possibly damaging Het
Tmem9b T A 7: 109,344,627 (GRCm39) probably null Het
Tnfaip8 A G 18: 50,184,742 (GRCm39) probably benign Het
Trappc8 A T 18: 21,003,802 (GRCm39) S209T probably benign Het
Uap1 C T 1: 169,994,302 (GRCm39) R58Q probably benign Het
Upk3bl A G 5: 136,092,915 (GRCm39) probably null Het
Usp34 A G 11: 23,396,778 (GRCm39) H596R probably damaging Het
Vmn1r181 C T 7: 23,683,580 (GRCm39) A15V probably damaging Het
Vmn2r54 T A 7: 12,365,883 (GRCm39) K350N probably benign Het
Vmn2r89 A G 14: 51,693,178 (GRCm39) H176R probably benign Het
Vwa7 A G 17: 35,243,241 (GRCm39) R640G probably benign 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
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
R9562:Top2b UTSW 14 16,365,718 (GRCm38) missense probably benign 0.09
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'- TTCTGCTCAGGGAGAGTACTTC -3'
(R):5'- AAACCTTCTAGCATCCGCCTG -3'

Sequencing Primer
(F):5'- AAGACTCATACTGGCTTGTGC -3'
(R):5'- AGCATCCGCCTGACATTG -3'
Posted On 2018-02-28