Incidental Mutation 'R3051:Trp53bp2'
ID 264939
Institutional Source Beutler Lab
Gene Symbol Trp53bp2
Ensembl Gene ENSMUSG00000026510
Gene Name transformation related protein 53 binding protein 2
Synonyms 53BP2, ASPP2
MMRRC Submission 040560-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3051 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 182236737-182289997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 182281347 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 983 (F983L)
Ref Sequence ENSEMBL: ENSMUSP00000112508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117245]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000117245
AA Change: F983L

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: F983L

DomainStartEndE-ValueType
PDB:2UWQ|A 4 89 1e-53 PDB
Blast:RA 10 91 7e-50 BLAST
coiled coil region 129 306 N/A INTRINSIC
low complexity region 401 412 N/A INTRINSIC
low complexity region 495 512 N/A INTRINSIC
PDB:4IRV|H 728 788 5e-25 PDB
low complexity region 865 890 N/A INTRINSIC
ANK 964 993 2.52e-6 SMART
ANK 997 1026 7.13e-6 SMART
SH3 1066 1124 6.2e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191804
Meta Mutation Damage Score 0.4655 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency 100% (32/32)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ASPP (apoptosis-stimulating protein of p53) family of p53 interacting proteins. The protein contains four ankyrin repeats and an SH3 domain involved in protein-protein interactions. It is localized to the perinuclear region of the cytoplasm, and regulates apoptosis and cell growth through interactions with other regulatory molecules including members of the p53 family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation is lethal by 30 days of age, although majority die embryonically. Heterozygotes show increased susceptibility to spontaneous and induced tumors of the lymphoma and sarcoma types [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,974,374 (GRCm39) V330I probably benign Het
Akap6 T C 12: 52,933,816 (GRCm39) L436P probably damaging Het
Axin1 A G 17: 26,409,099 (GRCm39) T700A probably benign Het
B4galt3 C A 1: 171,101,613 (GRCm39) H196N probably damaging Het
Ccdc178 T A 18: 22,268,188 (GRCm39) M100L probably benign Het
Ceacam20 T A 7: 19,710,110 (GRCm39) V378E probably benign Het
Cwf19l2 G A 9: 3,410,006 (GRCm39) R45H probably benign Het
Cyp2a5 A G 7: 26,542,410 (GRCm39) I471V possibly damaging Het
Ddr2 T C 1: 169,816,024 (GRCm39) K561R probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Ltf A G 9: 110,853,590 (GRCm39) D280G probably benign Het
Nlrc5 A G 8: 95,203,343 (GRCm39) E481G probably benign Het
Or1e30 A G 11: 73,678,060 (GRCm39) T99A probably benign Het
Pald1 G A 10: 61,182,542 (GRCm39) Q412* probably null Het
Ppp4r3c2 G A X: 88,797,709 (GRCm39) V514I probably damaging Het
Ptprd A G 4: 76,018,867 (GRCm39) Y649H probably damaging Het
R3hcc1l T G 19: 42,551,064 (GRCm39) Y20* probably null Het
Rbfox3 G T 11: 118,393,714 (GRCm39) A37D probably damaging Het
Rpa2 A G 4: 132,502,437 (GRCm39) probably null Het
Ryr1 A T 7: 28,752,515 (GRCm39) V3598E probably damaging Het
Slc6a7 G A 18: 61,142,589 (GRCm39) T41M probably damaging Het
Tacc2 G A 7: 130,227,226 (GRCm39) E1323K possibly damaging Het
Ten1 T C 11: 116,096,556 (GRCm39) F70S possibly damaging Het
Terf2 A C 8: 107,806,016 (GRCm39) L312R possibly damaging Het
Tktl1 A G X: 73,221,010 (GRCm39) T39A probably benign Het
Tmem51 A T 4: 141,759,335 (GRCm39) Y138N probably damaging Het
Trpm1 G A 7: 63,918,849 (GRCm39) E730K probably damaging Het
Ubxn2a T A 12: 4,941,322 (GRCm39) K95* probably null Het
Xpo6 T C 7: 125,703,893 (GRCm39) N1086D probably damaging Het
Zfp345 T C 2: 150,316,772 (GRCm39) N12D probably benign Het
Other mutations in Trp53bp2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00672:Trp53bp2 APN 1 182,268,541 (GRCm39) missense probably benign 0.17
IGL00920:Trp53bp2 APN 1 182,272,219 (GRCm39) unclassified probably benign
IGL01336:Trp53bp2 APN 1 182,259,148 (GRCm39) missense probably damaging 1.00
IGL01760:Trp53bp2 APN 1 182,275,993 (GRCm39) missense possibly damaging 0.68
IGL02539:Trp53bp2 APN 1 182,276,256 (GRCm39) missense probably damaging 0.99
IGL02609:Trp53bp2 APN 1 182,281,289 (GRCm39) missense probably benign 0.21
IGL02720:Trp53bp2 APN 1 182,281,289 (GRCm39) missense probably benign 0.21
IGL02962:Trp53bp2 APN 1 182,259,160 (GRCm39) missense probably benign 0.00
IGL03348:Trp53bp2 APN 1 182,281,313 (GRCm39) missense probably damaging 1.00
ganglion UTSW 1 182,256,475 (GRCm39) missense probably damaging 1.00
Nosa UTSW 1 182,283,305 (GRCm39) missense probably damaging 1.00
R0012:Trp53bp2 UTSW 1 182,272,283 (GRCm39) missense probably damaging 0.99
R0012:Trp53bp2 UTSW 1 182,272,283 (GRCm39) missense probably damaging 0.99
R0347:Trp53bp2 UTSW 1 182,269,213 (GRCm39) missense probably benign 0.08
R1422:Trp53bp2 UTSW 1 182,274,029 (GRCm39) missense probably benign
R1833:Trp53bp2 UTSW 1 182,256,581 (GRCm39) missense probably damaging 0.98
R1845:Trp53bp2 UTSW 1 182,286,468 (GRCm39) missense probably damaging 1.00
R1893:Trp53bp2 UTSW 1 182,259,193 (GRCm39) missense probably benign 0.01
R1927:Trp53bp2 UTSW 1 182,280,229 (GRCm39) missense probably damaging 0.98
R2017:Trp53bp2 UTSW 1 182,276,580 (GRCm39) missense probably benign
R2020:Trp53bp2 UTSW 1 182,270,384 (GRCm39) missense probably damaging 1.00
R2072:Trp53bp2 UTSW 1 182,286,432 (GRCm39) missense probably benign 0.00
R2120:Trp53bp2 UTSW 1 182,269,204 (GRCm39) missense probably benign 0.06
R2504:Trp53bp2 UTSW 1 182,269,204 (GRCm39) missense probably benign 0.26
R2970:Trp53bp2 UTSW 1 182,259,163 (GRCm39) missense probably damaging 1.00
R3052:Trp53bp2 UTSW 1 182,281,347 (GRCm39) missense probably damaging 0.96
R3053:Trp53bp2 UTSW 1 182,281,347 (GRCm39) missense probably damaging 0.96
R3151:Trp53bp2 UTSW 1 182,256,525 (GRCm39) missense probably damaging 1.00
R4043:Trp53bp2 UTSW 1 182,276,626 (GRCm39) missense possibly damaging 0.93
R4757:Trp53bp2 UTSW 1 182,286,339 (GRCm39) missense probably benign 0.04
R4785:Trp53bp2 UTSW 1 182,276,562 (GRCm39) missense probably benign
R4817:Trp53bp2 UTSW 1 182,269,370 (GRCm39) critical splice donor site probably null
R4836:Trp53bp2 UTSW 1 182,259,147 (GRCm39) missense probably damaging 1.00
R5040:Trp53bp2 UTSW 1 182,272,271 (GRCm39) missense probably damaging 1.00
R5882:Trp53bp2 UTSW 1 182,269,777 (GRCm39) missense possibly damaging 0.87
R6007:Trp53bp2 UTSW 1 182,283,305 (GRCm39) missense probably damaging 1.00
R6356:Trp53bp2 UTSW 1 182,276,562 (GRCm39) missense probably benign
R6886:Trp53bp2 UTSW 1 182,256,608 (GRCm39) critical splice donor site probably null
R6987:Trp53bp2 UTSW 1 182,274,200 (GRCm39) missense probably damaging 0.99
R7026:Trp53bp2 UTSW 1 182,270,300 (GRCm39) missense probably benign
R7141:Trp53bp2 UTSW 1 182,276,073 (GRCm39) missense
R7363:Trp53bp2 UTSW 1 182,272,231 (GRCm39) missense probably damaging 0.99
R7452:Trp53bp2 UTSW 1 182,274,133 (GRCm39) nonsense probably null
R7816:Trp53bp2 UTSW 1 182,276,260 (GRCm39) missense probably damaging 0.99
R7838:Trp53bp2 UTSW 1 182,283,384 (GRCm39) missense probably damaging 1.00
R8729:Trp53bp2 UTSW 1 182,276,587 (GRCm39) missense probably benign
R8850:Trp53bp2 UTSW 1 182,256,475 (GRCm39) missense probably damaging 1.00
R8921:Trp53bp2 UTSW 1 182,273,971 (GRCm39) missense
R8982:Trp53bp2 UTSW 1 182,263,001 (GRCm39) critical splice donor site probably null
R8988:Trp53bp2 UTSW 1 182,268,433 (GRCm39) missense possibly damaging 0.94
R9135:Trp53bp2 UTSW 1 182,286,328 (GRCm39) missense probably damaging 0.99
R9424:Trp53bp2 UTSW 1 182,273,864 (GRCm39) missense possibly damaging 0.63
R9563:Trp53bp2 UTSW 1 182,276,378 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCTTTCTTGATCCTAAGAAGCC -3'
(R):5'- ACTCCATTGCTTCCCAAAATTGAAC -3'

Sequencing Primer
(F):5'- GCCAGTTAGTAATGACAGTTAATGCG -3'
(R):5'- ATGGCTGCTACAAGAGGCC -3'
Posted On 2015-02-05