Incidental Mutation 'R2120:Trp53bp2'
ID 231342
Institutional Source Beutler Lab
Gene Symbol Trp53bp2
Ensembl Gene ENSMUSG00000026510
Gene Name transformation related protein 53 binding protein 2
Synonyms 53BP2, ASPP2
MMRRC Submission 040124-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2120 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 182236737-182289997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 182269204 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 223 (M223V)
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: M223V

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: M223V

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191804
Meta Mutation Damage Score 0.0695 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (86/86)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Abcg5 T A 17: 84,978,575 (GRCm39) E294D probably benign Het
Actrt2 C T 4: 154,751,551 (GRCm39) R195Q probably benign Het
Adamts12 C T 15: 11,310,665 (GRCm39) T974I probably damaging Het
Ankrd65 A G 4: 155,876,530 (GRCm39) T239A probably benign Het
Ano7 G T 1: 93,329,855 (GRCm39) probably benign Het
Apc A T 18: 34,409,654 (GRCm39) E198V probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Atp9a A T 2: 168,495,457 (GRCm39) V583E probably damaging Het
Bicral C T 17: 47,135,741 (GRCm39) A490T probably benign Het
C1rl C T 6: 124,485,672 (GRCm39) P348S probably damaging Het
Cog1 T C 11: 113,540,424 (GRCm39) L13P probably damaging Het
Cx3cr1 T A 9: 119,880,749 (GRCm39) T218S probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Dmd G C X: 83,356,089 (GRCm39) A2257P probably benign Het
E2f4 A G 8: 106,026,973 (GRCm39) Y179C probably damaging Het
Ecel1 A G 1: 87,075,997 (GRCm39) S727P probably damaging Het
Endod1 T C 9: 14,268,949 (GRCm39) N179D probably benign Het
Epc2 C T 2: 49,437,621 (GRCm39) probably benign Het
Ets2 G T 16: 95,519,977 (GRCm39) R401L probably benign Het
Fgd4 C T 16: 16,243,692 (GRCm39) C614Y probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Frem3 A T 8: 81,342,086 (GRCm39) T1460S probably benign Het
H2-M1 T G 17: 36,980,929 (GRCm39) T336P possibly damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Ipo7 G T 7: 109,648,838 (GRCm39) D704Y probably damaging Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Jarid2 G T 13: 45,059,812 (GRCm39) M681I probably benign Het
Kif4-ps T C 12: 101,113,956 (GRCm39) L695P probably damaging Het
Kmt2d A G 15: 98,737,410 (GRCm39) probably benign Het
Krt25 T C 11: 99,212,023 (GRCm39) T205A probably benign Het
Lif T C 11: 4,219,051 (GRCm39) V110A possibly damaging Het
Ltbp1 T A 17: 75,617,154 (GRCm39) V1031E possibly damaging Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Man2b1 A G 8: 85,819,653 (GRCm39) probably benign Het
Med16 A T 10: 79,738,916 (GRCm39) M290K possibly damaging Het
Mov10l1 C A 15: 88,891,830 (GRCm39) Q562K probably benign Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Mtmr6 T C 14: 60,534,108 (GRCm39) F449L probably damaging Het
Myt1l A T 12: 29,833,618 (GRCm39) probably null Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Nlrp6 T C 7: 140,506,357 (GRCm39) V766A probably benign Het
Or11g27 T C 14: 50,771,403 (GRCm39) I178T probably damaging Het
Or4k36 A G 2: 111,145,844 (GRCm39) T7A probably benign Het
Or6d13 A T 6: 116,517,416 (GRCm39) M1L probably null Het
Or8k22 G A 2: 86,163,689 (GRCm39) R4C probably benign Het
Patj T A 4: 98,344,462 (GRCm39) D591E probably benign Het
Pde6d A G 1: 86,473,524 (GRCm39) F91L probably benign Het
Pitpnm2 G A 5: 124,265,332 (GRCm39) P757L probably damaging Het
Plcd4 A G 1: 74,603,584 (GRCm39) T662A probably benign Het
Podn C T 4: 107,880,558 (GRCm39) A31T probably damaging Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Psmd1 T A 1: 86,006,422 (GRCm39) S263T possibly damaging Het
Pum1 C A 4: 130,396,581 (GRCm39) T112K possibly damaging Het
Rab3gap2 A T 1: 184,993,564 (GRCm39) D782V possibly damaging Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Reln G A 5: 22,174,083 (GRCm39) H2007Y probably damaging Het
Rhbdl2 T A 4: 123,718,712 (GRCm39) I222K probably damaging Het
Rimbp2 A G 5: 128,865,582 (GRCm39) S582P probably damaging Het
Rpe T C 1: 66,754,387 (GRCm39) M153T probably damaging Het
Sars1 T C 3: 108,341,472 (GRCm39) I114V probably benign Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sec14l1 C T 11: 117,039,358 (GRCm39) probably benign Het
Serpinb8 A G 1: 107,533,617 (GRCm39) E224G probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Slco6c1 C T 1: 96,993,808 (GRCm39) R645H possibly damaging Het
Srgn T A 10: 62,343,413 (GRCm39) probably benign Het
Stk40 C T 4: 126,022,640 (GRCm39) T138I probably benign Het
Syt10 C T 15: 89,674,979 (GRCm39) D456N probably damaging Het
Tada3 T C 6: 113,347,976 (GRCm39) I263V possibly damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tas2r115 T A 6: 132,714,470 (GRCm39) R160S possibly damaging Het
Trak1 T A 9: 121,302,063 (GRCm39) *940R probably null Het
Ttc21b C T 2: 66,057,098 (GRCm39) V625I probably benign Het
Txnrd1 T A 10: 82,723,067 (GRCm39) C421S possibly damaging Het
Unc45a T C 7: 79,989,846 (GRCm39) T8A probably benign Het
Usp6nl T A 2: 6,445,748 (GRCm39) V552E probably damaging Het
Vmn2r115 T G 17: 23,578,297 (GRCm39) L590R probably damaging Het
Vmn2r88 A T 14: 51,650,665 (GRCm39) H126L probably benign Het
Vps13c A G 9: 67,826,616 (GRCm39) D1419G possibly damaging Het
Vwa3a A G 7: 120,391,641 (GRCm39) T776A probably benign Het
Zfp580 T C 7: 5,056,008 (GRCm39) Y123H probably damaging 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
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
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'- CGGGGTCTTCAAATGTCTGTATC -3'
(R):5'- TCACTTTCTACGGACAGTTTGTG -3'

Sequencing Primer
(F):5'- GGGTCTTCAAATGTCTGTATCTAGAC -3'
(R):5'- TTTCTAGGGACGAGTGCCCAC -3'
Posted On 2014-09-18