Incidental Mutation 'R3807:Tdp2'
ID 274990
Institutional Source Beutler Lab
Gene Symbol Tdp2
Ensembl Gene ENSMUSG00000035958
Gene Name tyrosyl-DNA phosphodiesterase 2
Synonyms D13Ertd656e, Ttrap
MMRRC Submission 040764-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.674) question?
Stock # R3807 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 25015662-25026136 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 25015776 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 21 (S21*)
Ref Sequence ENSEMBL: ENSMUSP00000153301 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006900] [ENSMUST00000038039] [ENSMUST00000223804] [ENSMUST00000225138]
AlphaFold Q9JJX7
Predicted Effect probably benign
Transcript: ENSMUST00000006900
SMART Domains Protein: ENSMUSP00000006900
Gene: ENSMUSG00000006717

DomainStartEndE-ValueType
Pfam:4HBT 52 129 1.1e-19 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000038039
AA Change: S21*
SMART Domains Protein: ENSMUSP00000035660
Gene: ENSMUSG00000035958
AA Change: S21*

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
Pfam:Exo_endo_phos 127 359 3.9e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130788
Predicted Effect probably null
Transcript: ENSMUST00000223804
AA Change: S21*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224542
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224839
Predicted Effect probably null
Transcript: ENSMUST00000225138
AA Change: S21*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226055
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225490
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a superfamily of divalent cation-dependent phosphodiesterases. The encoded protein associates with CD40, tumor necrosis factor (TNF) receptor-75 and TNF receptor associated factors (TRAFs), and inhibits nuclear factor-kappa-B activation. This protein has sequence and structural similarities with APE1 endonuclease, which is involved in both DNA repair and the activation of transcription factors. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice carrying a gene trap insertion into intron 5 but subsequently shown to harbor a partial duplication of the wild-type allele at the ES cell level are born with a normal Mendelian distribution. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adat1 A T 8: 112,717,002 (GRCm39) W2R probably damaging Het
Arhgap42 A G 9: 9,008,034 (GRCm39) I563T probably damaging Het
Armcx1 T C X: 133,622,014 (GRCm39) V372A probably damaging Het
Bicd1 T A 6: 149,420,489 (GRCm39) L780M probably damaging Het
Bpifb1 C A 2: 154,055,922 (GRCm39) N329K probably benign Het
Ccdc113 A T 8: 96,269,281 (GRCm39) N193I probably damaging Het
Cebpz A T 17: 79,242,847 (GRCm39) L269Q probably damaging Het
Cttn C T 7: 143,999,588 (GRCm39) V290M probably damaging Het
Ctu1 T C 7: 43,326,097 (GRCm39) L252P probably damaging Het
Dmbt1 T A 7: 130,713,819 (GRCm39) M1455K possibly damaging Het
Eme1 A G 11: 94,541,418 (GRCm39) W135R probably damaging Het
Entpd7 T G 19: 43,713,979 (GRCm39) probably null Het
Eri2 A T 7: 119,385,231 (GRCm39) C423* probably null Het
Erich1 T C 8: 14,083,695 (GRCm39) N125S probably benign Het
Fam149a T A 8: 45,834,647 (GRCm39) T51S possibly damaging Het
Fer1l4 C T 2: 155,887,603 (GRCm39) G531D probably damaging Het
Frem2 A T 3: 53,560,870 (GRCm39) D1212E probably benign Het
Garin3 G A 11: 46,295,780 (GRCm39) A51T possibly damaging Het
Get4 G T 5: 139,238,286 (GRCm39) V23F probably damaging Het
Gm11595 C T 11: 99,663,380 (GRCm39) R100H unknown Het
Gria1 T C 11: 57,201,504 (GRCm39) W712R probably damaging Het
Herc2 A G 7: 55,857,557 (GRCm39) N4047D probably damaging Het
Hoxc9 A G 15: 102,890,116 (GRCm39) Y11C possibly damaging Het
Lama2 GCCC GCC 10: 27,066,661 (GRCm39) probably null Het
Lrrc56 A G 7: 140,789,298 (GRCm39) T393A probably benign Het
Lrrc7 T C 3: 157,891,130 (GRCm39) I346V probably benign Het
Med14 T C X: 12,553,416 (GRCm39) Y463C probably damaging Het
Nalcn T A 14: 123,515,599 (GRCm39) D1734V probably damaging Het
Nfe2l3 A T 6: 51,434,357 (GRCm39) R306* probably null Het
Nolc1 CAG CAGAAG 19: 46,069,798 (GRCm39) probably benign Het
Nolc1 CAG CAGAAG 19: 46,069,810 (GRCm39) probably benign Het
Nolc1 CCAGCAGCAGCAGCAGCAGCAGCAGC CCAGCAGCAGCAGCAGCAGCAGCAGCAGC 19: 46,069,791 (GRCm39) probably benign Het
Npr1 A T 3: 90,366,033 (GRCm39) V586E probably damaging Het
Or2d2b A G 7: 106,705,670 (GRCm39) S133P probably benign Het
Or5h24 A C 16: 58,919,206 (GRCm39) *50G probably null Het
Pcdhb4 T C 18: 37,442,367 (GRCm39) F559S probably damaging Het
Psmd12 T G 11: 107,386,591 (GRCm39) D387E probably benign Het
Psme4 T A 11: 30,806,027 (GRCm39) probably null Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Rgs11 A T 17: 26,422,474 (GRCm39) I69F probably damaging Het
Ryr1 C T 7: 28,719,577 (GRCm39) A4277T probably damaging Het
Setbp1 C T 18: 78,826,537 (GRCm39) V1359I probably benign Het
Sis A T 3: 72,832,929 (GRCm39) V956E probably benign Het
Slc35f3 T A 8: 127,115,978 (GRCm39) W302R probably damaging Het
Syt16 A G 12: 74,276,172 (GRCm39) E212G possibly damaging Het
Tfrc A T 16: 32,435,644 (GRCm39) N173I possibly damaging Het
Tmem132b A T 5: 125,864,644 (GRCm39) I917F probably damaging Het
Vbp1 T C X: 74,566,948 (GRCm39) V122A probably damaging Het
Vmn1r225 G A 17: 20,723,114 (GRCm39) W185* probably null Het
Vmn1r70 A G 7: 10,367,715 (GRCm39) T68A probably benign Het
Zfp518a A G 19: 40,903,241 (GRCm39) K1057E possibly damaging Het
Other mutations in Tdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00775:Tdp2 APN 13 25,024,521 (GRCm39) missense probably damaging 1.00
IGL01376:Tdp2 APN 13 25,020,932 (GRCm39) splice site probably null
IGL02346:Tdp2 APN 13 25,025,335 (GRCm39) missense possibly damaging 0.86
IGL02455:Tdp2 APN 13 25,025,245 (GRCm39) missense probably damaging 0.97
R0008:Tdp2 UTSW 13 25,025,333 (GRCm39) splice site probably null
R0008:Tdp2 UTSW 13 25,025,333 (GRCm39) splice site probably null
R0164:Tdp2 UTSW 13 25,022,222 (GRCm39) missense probably damaging 1.00
R0164:Tdp2 UTSW 13 25,022,222 (GRCm39) missense probably damaging 1.00
R0179:Tdp2 UTSW 13 25,024,431 (GRCm39) missense possibly damaging 0.46
R1939:Tdp2 UTSW 13 25,025,260 (GRCm39) missense probably benign 0.07
R3955:Tdp2 UTSW 13 25,020,082 (GRCm39) missense probably benign 0.00
R4943:Tdp2 UTSW 13 25,022,248 (GRCm39) missense probably benign 0.02
R5044:Tdp2 UTSW 13 25,015,809 (GRCm39) missense probably benign 0.00
R5529:Tdp2 UTSW 13 25,022,219 (GRCm39) nonsense probably null
R5827:Tdp2 UTSW 13 25,015,836 (GRCm39) missense probably damaging 0.99
R6235:Tdp2 UTSW 13 25,024,378 (GRCm39) nonsense probably null
R6326:Tdp2 UTSW 13 25,024,540 (GRCm39) missense probably damaging 1.00
R7091:Tdp2 UTSW 13 25,022,207 (GRCm39) missense probably damaging 1.00
R7244:Tdp2 UTSW 13 25,025,284 (GRCm39) missense probably benign 0.02
R7341:Tdp2 UTSW 13 25,016,059 (GRCm39) missense probably benign 0.00
R8010:Tdp2 UTSW 13 25,020,010 (GRCm39) missense probably damaging 1.00
R9203:Tdp2 UTSW 13 25,020,916 (GRCm39) nonsense probably null
Z1177:Tdp2 UTSW 13 25,025,234 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGATCACGGGTTACCTTCAC -3'
(R):5'- CTTTCTGAAAAGCAAAGGCACAAG -3'

Sequencing Primer
(F):5'- CGGTCTTCTTGCCGGAAG -3'
(R):5'- GGCACAAGGCTGCAGGG -3'
Posted On 2015-04-02