Incidental Mutation 'R7026:Trp53bp2'
ID 545944
Institutional Source Beutler Lab
Gene Symbol Trp53bp2
Ensembl Gene ENSMUSG00000026510
Gene Name transformation related protein 53 binding protein 2
Synonyms 53BP2, ASPP2
MMRRC Submission 045127-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7026 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 182236737-182289997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 182270300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 367 (S367P)
Ref Sequence ENSEMBL: ENSMUSP00000112508 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000117245]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000117245
AA Change: S367P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: S367P

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 probably benign
Transcript: ENSMUST00000191626
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
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 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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,805,392 (GRCm39) M749L probably benign Het
Abcc2 A G 19: 43,818,974 (GRCm39) N1321S probably benign Het
Acsm2 T A 7: 119,191,450 (GRCm39) V506E probably damaging Het
Add2 G A 6: 86,063,965 (GRCm39) R88Q probably benign Het
Adgra3 A G 5: 50,118,083 (GRCm39) V1155A probably benign Het
Ahsg T A 16: 22,710,963 (GRCm39) D33E probably damaging Het
Alox12b A T 11: 69,048,131 (GRCm39) D20V possibly damaging Het
Alppl2 A G 1: 87,017,420 (GRCm39) probably null Het
Ankfn1 A G 11: 89,530,403 (GRCm39) *49Q probably null Het
Bcl11b T C 12: 107,882,851 (GRCm39) D488G probably damaging Het
Bcl2l10 T A 9: 75,258,364 (GRCm39) F175L probably benign Het
C2cd3 T A 7: 100,081,299 (GRCm39) D127E probably damaging Het
Cacna1c C T 6: 118,614,732 (GRCm39) V1311I probably damaging Het
Cd55b A T 1: 130,316,427 (GRCm39) I374K probably benign Het
Cfap36 T C 11: 29,172,565 (GRCm39) T267A probably benign Het
Cibar2 G A 8: 120,895,324 (GRCm39) H193Y probably damaging Het
Cog1 T C 11: 113,540,415 (GRCm39) L10P probably damaging Het
Dnah7a T A 1: 53,543,448 (GRCm39) M2241L probably benign Het
Dock10 G T 1: 80,479,504 (GRCm39) A1809E probably benign Het
Dock7 A T 4: 98,967,156 (GRCm39) D255E probably benign Het
Exph5 T C 9: 53,251,728 (GRCm39) F123L probably benign Het
Fbxw27 C A 9: 109,617,146 (GRCm39) K118N possibly damaging Het
Fscb C A 12: 64,518,391 (GRCm39) S1025I unknown Het
Get4 C T 5: 139,238,358 (GRCm39) R47W possibly damaging Het
Gm3676 G A 14: 41,366,072 (GRCm39) S81F probably benign Het
Gulp1 C T 1: 44,820,245 (GRCm39) P251S possibly damaging Het
Hhatl T C 9: 121,617,339 (GRCm39) D298G probably benign Het
Hsf2bp T A 17: 32,252,254 (GRCm39) K60N possibly damaging Het
Ints4 T A 7: 97,168,361 (GRCm39) V625D possibly damaging Het
Iqch T A 9: 63,432,421 (GRCm39) K286* probably null Het
Irak1bp1 T A 9: 82,712,084 (GRCm39) S2T possibly damaging Het
Kdm3b G A 18: 34,955,517 (GRCm39) V1135I possibly damaging Het
Lama3 C A 18: 12,649,605 (GRCm39) N181K probably damaging Het
Lrfn2 T G 17: 49,404,005 (GRCm39) S709R probably benign Het
Lrp12 T C 15: 39,743,566 (GRCm39) H123R probably damaging Het
Lrp1b A G 2: 41,159,234 (GRCm39) S1569P probably damaging Het
Lrp2 T G 2: 69,352,131 (GRCm39) Q635P probably damaging Het
Mboat2 T C 12: 24,998,381 (GRCm39) probably null Het
Mctp1 A G 13: 76,954,378 (GRCm39) T596A probably benign Het
Mroh9 T A 1: 162,888,251 (GRCm39) M275L probably benign Het
Ms4a10 A C 19: 10,944,869 (GRCm39) probably null Het
Myo9a C T 9: 59,722,617 (GRCm39) R560C probably damaging Het
Or11h4b A G 14: 50,918,716 (GRCm39) I125T probably damaging Het
Or5b107 A G 19: 13,142,779 (GRCm39) T134A probably benign Het
Or6z1 T A 7: 6,504,820 (GRCm39) H135L probably damaging Het
Ormdl3 A G 11: 98,474,808 (GRCm39) V45A possibly damaging Het
Parp4 T C 14: 56,858,049 (GRCm39) Y894H probably benign Het
Pigo G A 4: 43,023,380 (GRCm39) Q259* probably null Het
Prrc2a G A 17: 35,380,803 (GRCm39) P70S unknown Het
Rab3ip A G 10: 116,773,441 (GRCm39) I124T probably benign Het
Rap1b A G 10: 117,654,384 (GRCm39) I21T probably benign Het
Rasgrf2 T A 13: 92,131,732 (GRCm39) S642C probably damaging Het
Rb1 T C 14: 73,535,539 (GRCm39) E106G probably benign Het
Reps1 C A 10: 17,983,437 (GRCm39) R427S probably damaging Het
Rnf213 A C 11: 119,370,481 (GRCm39) H4760P possibly damaging Het
Rtl1 A G 12: 109,559,595 (GRCm39) I748T probably damaging Het
Sco1 A T 11: 66,944,683 (GRCm39) K102M probably damaging Het
Sec16b T C 1: 157,362,281 (GRCm39) M44T possibly damaging Het
Slc7a10 T C 7: 34,898,139 (GRCm39) M297T probably damaging Het
Smchd1 T C 17: 71,656,662 (GRCm39) H1935R probably benign Het
Sowaha G A 11: 53,370,050 (GRCm39) R229W probably damaging Het
Sptlc3 A T 2: 139,379,608 (GRCm39) M83L probably benign Het
Tbc1d9 T C 8: 83,968,192 (GRCm39) V431A probably benign Het
Tmem98 A G 11: 80,712,214 (GRCm39) E217G possibly damaging Het
Trim13 T A 14: 61,842,562 (GRCm39) L193* probably null Het
Tsc2 T G 17: 24,845,713 (GRCm39) I202L probably damaging Het
Twf2 T A 9: 106,092,079 (GRCm39) V312E probably damaging Het
Usp34 G T 11: 23,311,622 (GRCm39) L471F probably damaging Het
Vps37c A G 19: 10,683,632 (GRCm39) D18G probably damaging Het
Zfp1010 T A 2: 176,957,361 (GRCm39) I46F 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
R3051:Trp53bp2 UTSW 1 182,281,347 (GRCm39) missense probably damaging 0.96
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
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'- GCTAAATTCTGAAAGTGCTGATCC -3'
(R):5'- ACCAGACATCCTGCAAGGTC -3'

Sequencing Primer
(F):5'- CTGAAAGTGCTGATCCTGAAATTTC -3'
(R):5'- AGACATCCTGCAAGGTCATTTC -3'
Posted On 2019-05-13