Incidental Mutation 'R0330:Tfdp2'
ID 65171
Institutional Source Beutler Lab
Gene Symbol Tfdp2
Ensembl Gene ENSMUSG00000032411
Gene Name transcription factor Dp 2
Synonyms A330080J22Rik, DP3, DP-3, 1110029I05Rik, DP3
MMRRC Submission 038539-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.950) question?
Stock # R0330 (G1)
Quality Score 113
Status Not validated
Chromosome 9
Chromosomal Location 96078348-96205699 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 96188946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Valine at position 200 (F200V)
Ref Sequence ENSEMBL: ENSMUSP00000141084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034982] [ENSMUST00000165120] [ENSMUST00000165768] [ENSMUST00000179065] [ENSMUST00000179416] [ENSMUST00000185644] [ENSMUST00000186609] [ENSMUST00000188008] [ENSMUST00000188750] [ENSMUST00000189606]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034982
AA Change: F215V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034982
Gene: ENSMUSG00000032411
AA Change: F215V

DomainStartEndE-ValueType
Pfam:E2F_TDP 66 147 3.8e-29 PFAM
DP 154 298 1.69e-87 SMART
low complexity region 345 361 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165120
AA Change: F140V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132934
Gene: ENSMUSG00000032411
AA Change: F140V

DomainStartEndE-ValueType
Pfam:E2F_TDP 1 72 3.2e-25 PFAM
DP 79 223 1.69e-87 SMART
low complexity region 270 286 N/A INTRINSIC
low complexity region 296 310 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000165768
AA Change: F216V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128260
Gene: ENSMUSG00000032411
AA Change: F216V

DomainStartEndE-ValueType
E2F_TDP 66 148 1.39e-33 SMART
DP 155 299 1.69e-87 SMART
low complexity region 346 362 N/A INTRINSIC
low complexity region 372 386 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179065
AA Change: F189V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136817
Gene: ENSMUSG00000032411
AA Change: F189V

DomainStartEndE-ValueType
Pfam:E2F_TDP 40 121 3.9e-29 PFAM
DP 128 272 1.69e-87 SMART
low complexity region 319 335 N/A INTRINSIC
low complexity region 345 359 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000179416
AA Change: F215V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137176
Gene: ENSMUSG00000032411
AA Change: F215V

DomainStartEndE-ValueType
Pfam:E2F_TDP 66 147 3.8e-29 PFAM
DP 154 298 1.69e-87 SMART
low complexity region 345 361 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000185644
AA Change: F215V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140061
Gene: ENSMUSG00000032411
AA Change: F215V

DomainStartEndE-ValueType
Pfam:E2F_TDP 66 147 3.8e-29 PFAM
DP 154 298 1.69e-87 SMART
low complexity region 345 361 N/A INTRINSIC
low complexity region 371 385 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190689
Predicted Effect probably damaging
Transcript: ENSMUST00000186609
AA Change: F164V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139891
Gene: ENSMUSG00000032411
AA Change: F164V

DomainStartEndE-ValueType
Pfam:E2F_TDP 14 96 3.2e-27 PFAM
DP 103 203 4e-59 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000188008
AA Change: F200V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139848
Gene: ENSMUSG00000032411
AA Change: F200V

DomainStartEndE-ValueType
Pfam:E2F_TDP 50 132 1e-26 PFAM
DP 139 283 8e-92 SMART
low complexity region 330 346 N/A INTRINSIC
low complexity region 356 365 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000188750
AA Change: F276V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139926
Gene: ENSMUSG00000032411
AA Change: F276V

DomainStartEndE-ValueType
Pfam:E2F_TDP 127 208 1.3e-26 PFAM
DP 215 359 8e-92 SMART
low complexity region 406 422 N/A INTRINSIC
low complexity region 432 446 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000189606
AA Change: F200V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000141084
Gene: ENSMUSG00000032411
AA Change: F200V

DomainStartEndE-ValueType
Pfam:E2F_TDP 50 132 1e-26 PFAM
DP 139 283 8e-92 SMART
low complexity region 330 346 N/A INTRINSIC
low complexity region 356 365 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000191133
Meta Mutation Damage Score 0.9463 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.7%
  • 20x: 88.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the transcription factor DP family. The encoded protein forms heterodimers with the E2F transcription factors resulting in transcriptional activation of cell cycle regulated genes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI

 All alleles(416) : Targeted, other(1) Gene trapped(415)

SNPs within 2kb(416 from dbSNP Build 128)  

Other mutations in this stock
Total: 95 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b T C 9: 118,983,038 (GRCm39) N120S probably damaging Het
Acsbg3 A T 17: 57,190,631 (GRCm39) I400F probably benign Het
Acvr1c T C 2: 58,174,850 (GRCm39) T313A probably damaging Het
Adamtsl3 A T 7: 82,171,198 (GRCm39) D417V probably damaging Het
Adgrf4 A T 17: 42,978,204 (GRCm39) C380S probably damaging Het
AI597479 T G 1: 43,150,277 (GRCm39) L129R probably benign Het
AI661453 G A 17: 47,757,571 (GRCm39) R76Q probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa7 A C 14: 20,519,566 (GRCm39) probably null Het
Arhgap12 T A 18: 6,039,382 (GRCm39) D455V probably damaging Het
Arhgap22 A G 14: 33,091,374 (GRCm39) R650G possibly damaging Het
Arhgef12 A C 9: 42,931,982 (GRCm39) H168Q probably damaging Het
Arhgef2 A G 3: 88,549,808 (GRCm39) H592R probably damaging Het
BC049715 A G 6: 136,817,035 (GRCm39) T92A possibly damaging Het
Bcr C T 10: 75,017,466 (GRCm39) T1209I possibly damaging Het
Bmpr1a C T 14: 34,151,734 (GRCm39) S185N probably benign Het
Calcoco1 A T 15: 102,624,198 (GRCm39) M246K probably benign Het
Capn8 T A 1: 182,457,703 (GRCm39) I689N probably benign Het
Ccno T A 13: 113,126,530 (GRCm39) L333Q probably damaging Het
Cep57 G A 9: 13,728,281 (GRCm39) R148W probably damaging Het
Cftr T A 6: 18,226,096 (GRCm39) M318K probably null Het
Chd3 T G 11: 69,247,159 (GRCm39) D1003A probably damaging Het
Ckmt2 T A 13: 92,011,322 (GRCm39) D96V possibly damaging Het
Cldn13 A G 5: 134,944,176 (GRCm39) V3A probably benign Het
Col17a1 T C 19: 47,658,871 (GRCm39) T413A probably benign Het
Cpne5 A T 17: 29,430,634 (GRCm39) L92H probably damaging Het
Dnaaf2 C A 12: 69,244,518 (GRCm39) R181L probably damaging Het
Erbin C A 13: 104,005,373 (GRCm39) C114F probably damaging Het
Fads2b T A 2: 85,348,895 (GRCm39) R72S probably benign Het
Fanca A T 8: 124,000,911 (GRCm39) C1156* probably null Het
Flot2 T A 11: 77,949,784 (GRCm39) I322N possibly damaging Het
Fstl5 T C 3: 76,615,060 (GRCm39) V707A possibly damaging Het
Gli3 T G 13: 15,898,143 (GRCm39) L741R probably damaging Het
Gmip G T 8: 70,263,468 (GRCm39) S70I probably benign Het
Gnptab T C 10: 88,276,171 (GRCm39) S1153P probably damaging Het
Gramd1a T C 7: 30,837,679 (GRCm39) D360G possibly damaging Het
Gtf2i T C 5: 134,280,740 (GRCm39) E518G probably damaging Het
Hsp90b1 T C 10: 86,530,019 (GRCm39) E226G probably damaging Het
Impg2 A G 16: 56,072,627 (GRCm39) Y353C probably damaging Het
Kank1 A G 19: 25,401,677 (GRCm39) K1095E probably benign Het
Kcnh4 C T 11: 100,648,569 (GRCm39) C45Y probably damaging Het
Kif13b A G 14: 65,040,669 (GRCm39) T1590A probably benign Het
Lpin3 T C 2: 160,747,225 (GRCm39) V827A probably benign Het
Lrp1b A T 2: 40,591,773 (GRCm39) C73* probably null Het
Mcm8 A G 2: 132,661,914 (GRCm39) K83E possibly damaging Het
Med12l A G 3: 59,135,123 (GRCm39) E757G probably damaging Het
Mep1a A G 17: 43,808,789 (GRCm39) probably null Het
Mtor T A 4: 148,568,837 (GRCm39) V1119E probably benign Het
Mybpc2 C T 7: 44,158,453 (GRCm39) A710T possibly damaging Het
Myof A C 19: 37,924,326 (GRCm39) I1297S probably damaging Het
Nacad A G 11: 6,550,903 (GRCm39) S763P probably benign Het
Nbea A G 3: 55,550,238 (GRCm39) V2730A probably benign Het
Nbeal1 A G 1: 60,307,222 (GRCm39) Y1684C probably damaging Het
Optn A T 2: 5,039,066 (GRCm39) N352K possibly damaging Het
Or10k2 A G 8: 84,268,142 (GRCm39) Y123C probably damaging Het
Or2g1 A T 17: 38,106,880 (GRCm39) M182L probably benign Het
Or7g16 A G 9: 18,726,937 (GRCm39) Y218H probably damaging Het
Or9g4b T A 2: 85,616,147 (GRCm39) C97* probably null Het
Pcif1 G T 2: 164,731,364 (GRCm39) R466L probably damaging Het
Phxr2 T C 10: 98,961,979 (GRCm39) probably benign Het
Plaat5 T A 19: 7,614,663 (GRCm39) probably null Het
Plb1 T A 5: 32,512,701 (GRCm39) F1353Y probably damaging Het
Plec A G 15: 76,075,618 (GRCm39) probably null Het
Polr1a T A 6: 71,943,400 (GRCm39) C1212S possibly damaging Het
Primpol A T 8: 47,063,496 (GRCm39) N53K probably damaging Het
Pygo2 T A 3: 89,340,461 (GRCm39) N286K possibly damaging Het
Rttn G A 18: 89,004,204 (GRCm39) probably null Het
Serpinb3b G T 1: 107,087,433 (GRCm39) N25K probably damaging Het
Sidt2 A G 9: 45,866,200 (GRCm39) I2T probably benign Het
Slc12a3 A T 8: 95,072,974 (GRCm39) N699I possibly damaging Het
Slc25a30 G A 14: 76,000,112 (GRCm39) Q285* probably null Het
Slc4a9 A T 18: 36,668,592 (GRCm39) H724L probably damaging Het
Ssbp2 T A 13: 91,828,698 (GRCm39) probably null Het
Stac3 C A 10: 127,343,616 (GRCm39) probably null Het
Stk32a A G 18: 43,446,566 (GRCm39) K339E probably benign Het
Stoml2 A G 4: 43,030,238 (GRCm39) probably null Het
Syne2 G T 12: 76,013,727 (GRCm39) G2974C probably benign Het
Tbc1d16 A G 11: 119,049,555 (GRCm39) probably null Het
Tie1 C A 4: 118,341,924 (GRCm39) R175L probably benign Het
Trappc12 A G 12: 28,797,259 (GRCm39) V91A probably benign Het
Trim46 G T 3: 89,143,820 (GRCm39) P536Q probably damaging Het
Tshz3 T A 7: 36,469,458 (GRCm39) D482E probably benign Het
Tspan33 T C 6: 29,711,091 (GRCm39) probably null Het
Unc80 T C 1: 66,713,246 (GRCm39) L2788P possibly damaging Het
Utp20 T A 10: 88,653,841 (GRCm39) T260S probably benign Het
Vmn2r118 G T 17: 55,917,717 (GRCm39) T265K probably damaging Het
Vmn2r98 A C 17: 19,286,609 (GRCm39) H369P probably benign Het
Vps39 A T 2: 120,169,268 (GRCm39) Y245N possibly damaging Het
Vps4a A C 8: 107,769,698 (GRCm39) I336L probably benign Het
Xylb T C 9: 119,210,653 (GRCm39) S379P probably damaging Het
Zbtb37 T C 1: 160,860,066 (GRCm39) T80A probably benign Het
Zfhx3 A G 8: 109,675,589 (GRCm39) D2213G probably damaging Het
Zfp729a G T 13: 67,768,473 (GRCm39) H585Q probably damaging Het
Zfp804b A T 5: 6,821,029 (GRCm39) I642N possibly damaging Het
Zfp804b A T 5: 6,821,994 (GRCm39) N356K possibly damaging Het
Other mutations in Tfdp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01566:Tfdp2 APN 9 96,177,083 (GRCm39) missense probably damaging 1.00
IGL01737:Tfdp2 APN 9 96,182,465 (GRCm39) missense possibly damaging 0.79
IGL02725:Tfdp2 APN 9 96,169,748 (GRCm39) missense possibly damaging 0.50
IGL02754:Tfdp2 APN 9 96,199,592 (GRCm39) missense probably benign 0.08
IGL02975:Tfdp2 APN 9 96,199,989 (GRCm39) unclassified probably benign
I2289:Tfdp2 UTSW 9 96,199,848 (GRCm39) nonsense probably null
R0329:Tfdp2 UTSW 9 96,188,946 (GRCm39) missense probably damaging 1.00
R0478:Tfdp2 UTSW 9 96,172,636 (GRCm39) missense probably benign 0.01
R1843:Tfdp2 UTSW 9 96,199,857 (GRCm39) missense possibly damaging 0.90
R1851:Tfdp2 UTSW 9 96,179,762 (GRCm39) missense probably damaging 1.00
R2121:Tfdp2 UTSW 9 96,177,067 (GRCm39) missense probably damaging 1.00
R2432:Tfdp2 UTSW 9 96,192,643 (GRCm39) missense probably damaging 1.00
R4635:Tfdp2 UTSW 9 96,179,727 (GRCm39) missense probably damaging 1.00
R5970:Tfdp2 UTSW 9 96,199,627 (GRCm39) missense unknown
R7488:Tfdp2 UTSW 9 96,179,695 (GRCm39) missense probably damaging 1.00
R7905:Tfdp2 UTSW 9 96,192,659 (GRCm39) missense
R8222:Tfdp2 UTSW 9 96,192,666 (GRCm39) missense possibly damaging 0.59
R8986:Tfdp2 UTSW 9 96,172,637 (GRCm39) missense probably damaging 0.98
R9544:Tfdp2 UTSW 9 96,169,663 (GRCm39) missense probably damaging 1.00
R9588:Tfdp2 UTSW 9 96,169,663 (GRCm39) missense probably damaging 1.00
Z1177:Tfdp2 UTSW 9 96,188,911 (GRCm39) missense possibly damaging 0.96
Predicted Primers
Posted On 2013-08-08