Incidental Mutation 'IGL02609:Trp53bp2'
ID 300407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Trp53bp2
Ensembl Gene ENSMUSG00000026510
Gene Name transformation related protein 53 binding protein 2
Synonyms 53BP2, ASPP2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02609
Quality Score
Status
Chromosome 1
Chromosomal Location 182236737-182289997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 182281289 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 963 (D963E)
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: D963E

PolyPhen 2 Score 0.212 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: D963E

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
Coding Region Coverage
Validation Efficiency
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930011G23Rik A G 5: 99,381,854 (GRCm39) probably benign Het
Aadacl4fm5 T A 4: 144,506,307 (GRCm39) D128V probably damaging Het
Adcy10 T G 1: 165,366,044 (GRCm39) Y520* probably null Het
Agrn A T 4: 156,259,680 (GRCm39) probably benign Het
AI661453 A T 17: 47,779,297 (GRCm39) probably benign Het
Arhgap6 A G X: 167,961,062 (GRCm39) probably benign Het
Asxl2 T C 12: 3,550,018 (GRCm39) S587P probably damaging Het
B3gntl1 A G 11: 121,535,427 (GRCm39) probably benign Het
Bahcc1 T C 11: 120,180,224 (GRCm39) F2527L possibly damaging Het
Baz2b T A 2: 59,747,713 (GRCm39) M1317L possibly damaging Het
Bcas3 A T 11: 85,348,720 (GRCm39) K204I probably damaging Het
Bpnt2 T A 4: 4,767,763 (GRCm39) R338* probably null Het
C1qtnf1 T C 11: 118,338,830 (GRCm39) F167L probably damaging Het
Cfap58 C T 19: 47,963,941 (GRCm39) T523M possibly damaging Het
Ddb1 T A 19: 10,599,830 (GRCm39) C680S possibly damaging Het
Eef1d T C 15: 75,768,162 (GRCm39) Q200R probably null Het
Gm10717 A T 9: 3,026,287 (GRCm39) Y195F probably damaging Het
Gm28557 T A 13: 67,219,083 (GRCm39) K214* probably null Het
Gm8229 A C 14: 44,604,082 (GRCm39) E90D probably benign Het
Hhla1 T C 15: 65,802,463 (GRCm39) probably benign Het
Hivep1 C T 13: 42,309,130 (GRCm39) H457Y probably damaging Het
Htr2c T C X: 145,976,756 (GRCm39) probably benign Het
Ifi44 A T 3: 151,438,134 (GRCm39) S384R probably damaging Het
Kirrel2 T C 7: 30,147,765 (GRCm39) T628A probably benign Het
Kmt2d T C 15: 98,749,674 (GRCm39) probably benign Het
Larp4b T A 13: 9,220,716 (GRCm39) I655N probably damaging Het
Lrrd1 G A 5: 3,908,803 (GRCm39) V692I probably benign Het
Lypd8l A T 11: 58,503,442 (GRCm39) C29S probably damaging Het
Nes T C 3: 87,884,528 (GRCm39) I929T probably benign Het
Ogfr T C 2: 180,234,308 (GRCm39) probably benign Het
Pwwp3a A T 10: 80,065,917 (GRCm39) E57V probably damaging Het
Rfx2 G T 17: 57,112,404 (GRCm39) P43Q probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sh3tc1 T C 5: 35,864,516 (GRCm39) K495R probably damaging Het
Slit1 A T 19: 41,590,743 (GRCm39) C1310S probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stk35 T C 2: 129,643,721 (GRCm39) V235A probably damaging Het
Syde2 T G 3: 145,704,275 (GRCm39) V142G probably benign Het
Tgfb3 A G 12: 86,124,613 (GRCm39) F32L probably benign Het
Tmem35a T C X: 133,205,446 (GRCm39) F121L probably damaging Het
Vmn1r26 A G 6: 57,985,860 (GRCm39) S110P probably damaging Het
Vpreb1b T C 16: 17,798,558 (GRCm39) probably benign Het
Xrn2 A T 2: 146,891,945 (GRCm39) T721S 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
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
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
Posted On 2015-04-16