Incidental Mutation 'R5248:Tob2'
ID 398693
Institutional Source Beutler Lab
Gene Symbol Tob2
Ensembl Gene ENSMUSG00000048546
Gene Name transducer of ERBB2, 2
Synonyms 2900090N22Rik, 4930545K18Rik
MMRRC Submission 042819-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.197) question?
Stock # R5248 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 81732473-81742997 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 81735918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 17 (Y17C)
Ref Sequence ENSEMBL: ENSMUSP00000155503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050467] [ENSMUST00000231000]
AlphaFold Q9JM55
Predicted Effect possibly damaging
Transcript: ENSMUST00000050467
AA Change: Y17C

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000061390
Gene: ENSMUSG00000048546
AA Change: Y17C

DomainStartEndE-ValueType
btg1 1 106 3.69e-64 SMART
Pfam:PAM2 128 145 1e-7 PFAM
low complexity region 175 189 N/A INTRINSIC
low complexity region 194 218 N/A INTRINSIC
low complexity region 226 243 N/A INTRINSIC
Pfam:PAM2 249 266 5.9e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229500
Predicted Effect probably damaging
Transcript: ENSMUST00000231000
AA Change: Y17C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] TOB2 belongs to the TOB (see TOB1; MIM 605523)/BTG1 (MIM 109580) family of antiproliferative proteins, which are involved in the regulation of cell cycle progression.[supplied by OMIM, Apr 2004]
PHENOTYPE: Mice homozygous for a targeted mutation display reduced bone mass due to increased osteoclast numbers and acceleration of the bone resorption rate. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,109,437 (GRCm39) E344D probably benign Het
Acoxl G A 2: 127,917,855 (GRCm39) probably null Het
Adora1 A T 1: 134,131,224 (GRCm39) L149Q possibly damaging Het
Aebp1 C A 11: 5,818,501 (GRCm39) D115E possibly damaging Het
Ank3 A G 10: 69,822,938 (GRCm39) I1819V probably benign Het
Ankrd44 T C 1: 54,706,539 (GRCm39) H454R probably damaging Het
Ap4e1 C T 2: 126,906,842 (GRCm39) A1034V possibly damaging Het
B3galt2 T A 1: 143,522,849 (GRCm39) F328L probably benign Het
Bbip1 G A 19: 53,919,786 (GRCm39) probably benign Het
Brsk1 G A 7: 4,711,865 (GRCm39) E572K possibly damaging Het
Clca3a1 G T 3: 144,442,897 (GRCm39) P716T possibly damaging Het
Clpx T C 9: 65,228,132 (GRCm39) V380A probably damaging Het
Epha3 T A 16: 63,418,620 (GRCm39) Q608H probably damaging Het
Gprc6a G T 10: 51,491,089 (GRCm39) P712T probably damaging Het
Itpr1 C A 6: 108,519,023 (GRCm39) Q2720K probably damaging Het
Kdm5b A G 1: 134,548,735 (GRCm39) E1080G probably benign Het
Macf1 G A 4: 123,295,567 (GRCm39) R3163* probably null Het
Map4k5 T C 12: 69,888,755 (GRCm39) D292G probably benign Het
Mau2 A T 8: 70,481,373 (GRCm39) C217S probably benign Het
Mtf1 T C 4: 124,714,220 (GRCm39) F210L probably damaging Het
Mtif2 G A 11: 29,486,889 (GRCm39) V300M probably damaging Het
Mtmr2 T C 9: 13,694,905 (GRCm39) probably benign Het
Mybpc3 C A 2: 90,955,573 (GRCm39) probably null Het
Ncmap T C 4: 135,107,430 (GRCm39) probably null Het
Nek9 A G 12: 85,355,751 (GRCm39) F672S probably damaging Het
Nuak1 A T 10: 84,245,542 (GRCm39) I101N probably damaging Het
Or8s16 T C 15: 98,211,311 (GRCm39) N40S probably damaging Het
Pcdh7 T A 5: 58,286,515 (GRCm39) M1197K probably damaging Het
Pcdhb17 A C 18: 37,618,939 (GRCm39) Q243P probably benign Het
Pcf11 T G 7: 92,310,699 (GRCm39) K221Q probably damaging Het
Pkhd1 C T 1: 20,604,769 (GRCm39) R1182H probably benign Het
Ptprz1 C A 6: 23,001,900 (GRCm39) P1330Q probably benign Het
Rbm33 T G 5: 28,542,050 (GRCm39) probably null Het
Rhobtb1 A G 10: 69,084,615 (GRCm39) D2G probably damaging Het
Rngtt T A 4: 33,325,110 (GRCm39) C110* probably null Het
Setx T A 2: 29,038,430 (GRCm39) N1638K probably benign Het
Slc24a3 A T 2: 145,446,437 (GRCm39) M282L probably benign Het
Slc7a1 A T 5: 148,270,798 (GRCm39) V556D possibly damaging Het
Sppl2c A T 11: 104,077,407 (GRCm39) D69V possibly damaging Het
Srpk3 C T X: 72,818,555 (GRCm39) R82* probably null Het
Tas2r120 A T 6: 132,634,110 (GRCm39) N64I probably damaging Het
Tcf25 G T 8: 124,100,678 (GRCm39) A23S probably damaging Het
Tigd2 A T 6: 59,188,138 (GRCm39) K335I probably damaging Het
Tlr6 A G 5: 65,112,647 (GRCm39) S87P probably benign Het
Tmem135 T A 7: 88,797,200 (GRCm39) Y352F probably damaging Het
Tymp GC GCC 15: 89,258,567 (GRCm39) probably null Het
Vmn1r179 T C 7: 23,628,478 (GRCm39) V223A probably damaging Het
Zfp946 T C 17: 22,673,447 (GRCm39) V67A probably benign Het
Zswim4 G T 8: 84,946,561 (GRCm39) N698K probably benign Het
Zzz3 A G 3: 152,133,182 (GRCm39) Q80R probably damaging Het
Other mutations in Tob2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0346:Tob2 UTSW 15 81,742,424 (GRCm39) missense probably damaging 1.00
R0788:Tob2 UTSW 15 81,735,903 (GRCm39) missense probably damaging 0.97
R2018:Tob2 UTSW 15 81,735,400 (GRCm39) missense probably damaging 1.00
R2441:Tob2 UTSW 15 81,735,923 (GRCm39) nonsense probably null
R4951:Tob2 UTSW 15 81,735,924 (GRCm39) missense probably damaging 1.00
R7977:Tob2 UTSW 15 81,735,681 (GRCm39) missense probably damaging 1.00
R7987:Tob2 UTSW 15 81,735,681 (GRCm39) missense probably damaging 1.00
R8278:Tob2 UTSW 15 81,735,288 (GRCm39) missense probably benign
R8700:Tob2 UTSW 15 81,735,802 (GRCm39) missense probably damaging 1.00
R8788:Tob2 UTSW 15 81,735,928 (GRCm39) small deletion probably benign
R9590:Tob2 UTSW 15 81,735,068 (GRCm39) missense possibly damaging 0.79
Predicted Primers PCR Primer
(F):5'- AATCCAGACACTCAGCTCTTCG -3'
(R):5'- TGTGCTGGGCCTTTCTATAC -3'

Sequencing Primer
(F):5'- ACACTCAGCTCTTCGGGCAC -3'
(R):5'- GTGCTGGGCCTTTCTATACAAATAG -3'
Posted On 2016-07-06