Incidental Mutation 'R1833:Trp53bp2'
ID 204917
Institutional Source Beutler Lab
Gene Symbol Trp53bp2
Ensembl Gene ENSMUSG00000026510
Gene Name transformation related protein 53 binding protein 2
Synonyms 53BP2, ASPP2
MMRRC Submission 039860-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1833 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 182236737-182289997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 182256581 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 50 (H50Q)
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: H50Q

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112508
Gene: ENSMUSG00000026510
AA Change: H50Q

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
Meta Mutation Damage Score 0.2029 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.1%
  • 20x: 91.9%
Validation Efficiency 99% (83/84)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T A 3: 124,350,509 (GRCm39) D143V unknown Het
4930438A08Rik C T 11: 58,179,214 (GRCm39) Q183* probably null Het
9230009I02Rik A G 11: 50,982,293 (GRCm39) noncoding transcript Het
Abhd12 T A 2: 150,690,338 (GRCm39) D119V probably damaging Het
Adam1b A G 5: 121,641,000 (GRCm39) I15T possibly damaging Het
Agtpbp1 A T 13: 59,613,797 (GRCm39) probably null Het
Arfgef1 G C 1: 10,275,115 (GRCm39) I312M probably benign Het
Arid4a C T 12: 71,122,240 (GRCm39) L874F possibly damaging Het
Bcas3 G A 11: 85,474,775 (GRCm39) V317I probably benign Het
Ccr1 T A 9: 123,764,126 (GRCm39) I135F probably damaging Het
Ces2h A G 8: 105,747,005 (GRCm39) E547G possibly damaging Het
Ces3b T A 8: 105,812,271 (GRCm39) D173E probably damaging Het
Chd3 A G 11: 69,244,949 (GRCm39) L1197S probably damaging Het
Cngb1 A G 8: 95,968,983 (GRCm39) L1175P probably damaging Het
Cyp4f17 T C 17: 32,743,184 (GRCm39) F286L probably benign Het
Dclre1a C T 19: 56,529,932 (GRCm39) probably null Het
Dennd6a T A 14: 26,328,109 (GRCm39) L44H probably damaging Het
Dhx16 A G 17: 36,196,511 (GRCm39) T560A probably benign Het
Dusp12 T C 1: 170,702,022 (GRCm39) M326V probably benign Het
Eif3k T C 7: 28,670,852 (GRCm39) I180V probably benign Het
Erc1 A G 6: 119,720,390 (GRCm39) I437T possibly damaging Het
Farp2 T A 1: 93,504,086 (GRCm39) probably benign Het
Foxa3 A G 7: 18,748,499 (GRCm39) L209P probably damaging Het
Garin2 G A 12: 78,762,280 (GRCm39) probably benign Het
Gen1 A T 12: 11,298,352 (GRCm39) probably benign Het
Gm10305 A G 4: 99,161,363 (GRCm39) T91A unknown Het
Gm14412 T C 2: 177,007,583 (GRCm39) D104G probably benign Het
Gm6900 T C 7: 10,390,515 (GRCm39) noncoding transcript Het
Gpx1 A T 9: 108,216,555 (GRCm39) Y15F possibly damaging Het
H2-M10.3 T C 17: 36,678,387 (GRCm39) Y146C probably damaging Het
H2-Q7 C A 17: 35,658,675 (GRCm39) S104R probably benign Het
Hephl1 T C 9: 14,988,224 (GRCm39) Y628C probably damaging Het
Hspa5 T A 2: 34,666,065 (GRCm39) Y636* probably null Het
Htt A G 5: 35,063,092 (GRCm39) probably benign Het
Idh1 T C 1: 65,200,273 (GRCm39) I364V probably benign Het
Itgae G T 11: 73,007,988 (GRCm39) A423S possibly damaging Het
Kng2 T C 16: 22,830,802 (GRCm39) N169S possibly damaging Het
Larp4b C T 13: 9,201,235 (GRCm39) T369I possibly damaging Het
Lcor T C 19: 41,573,387 (GRCm39) I714T probably benign Het
Lhfpl7 A G 5: 113,382,435 (GRCm39) probably benign Het
Lonrf2 G A 1: 38,852,357 (GRCm39) P165S probably benign Het
Magi2 G T 5: 19,432,455 (GRCm39) G57C probably damaging Het
Mdn1 T A 4: 32,720,761 (GRCm39) H2291Q probably damaging Het
Mgam T C 6: 40,631,652 (GRCm39) probably null Het
Micall2 A G 5: 139,702,508 (GRCm39) V245A probably benign Het
Mipep T G 14: 61,109,512 (GRCm39) Y630D probably damaging Het
Msx2 A T 13: 53,622,221 (GRCm39) M263K probably damaging Het
Nectin2 G T 7: 19,451,633 (GRCm39) P467H probably damaging Het
Nek10 A T 14: 14,842,789 (GRCm38) M165L probably benign Het
Nlrp4b A T 7: 10,459,863 (GRCm39) M455L probably benign Het
Oaz3 TGGAGGCAGGAGCACGGGAGGCAGGAGCACGGGAGGCAG TGGAGGCAGGAGCACGGGAGGCAG 3: 94,343,349 (GRCm39) probably benign Het
Or10ad1b T A 15: 98,124,846 (GRCm39) I227F probably damaging Het
Or4c10 T A 2: 89,760,645 (GRCm39) L164* probably null Het
Pcx T A 19: 4,669,132 (GRCm39) V710E probably damaging Het
Pkn2 C T 3: 142,527,408 (GRCm39) R347Q probably damaging Het
Pramel51 T C 12: 88,145,218 (GRCm39) E44G possibly damaging Het
Qsox1 C T 1: 155,666,791 (GRCm39) G233S probably benign Het
Rbl1 T A 2: 157,037,475 (GRCm39) N224I probably damaging Het
Rspry1 A G 8: 95,362,116 (GRCm39) T132A probably damaging Het
Sclt1 A G 3: 41,681,546 (GRCm39) V91A probably damaging Het
Sema4f A T 6: 82,895,540 (GRCm39) L331H probably benign Het
Sf3b3 T A 8: 111,544,198 (GRCm39) Q814L probably benign Het
Slc19a2 T G 1: 164,089,753 (GRCm39) Y190D probably damaging Het
Smarcc1 T A 9: 109,982,879 (GRCm39) H204Q possibly damaging Het
Sox6 T C 7: 115,376,328 (GRCm39) K135E probably damaging Het
Tecpr1 T C 5: 144,145,426 (GRCm39) Q607R probably damaging Het
Tgfb1i1 A G 7: 127,848,670 (GRCm39) probably benign Het
Tirap T G 9: 35,099,999 (GRCm39) R228S probably benign Het
Try4 A G 6: 41,280,365 (GRCm39) H63R probably damaging Het
Vmn2r25 G A 6: 123,816,643 (GRCm39) P313S probably benign Het
Vps26a A C 10: 62,294,825 (GRCm39) L250V probably benign Het
Vwf A G 6: 125,619,000 (GRCm39) H1226R probably benign Het
Wdtc1 TCC TC 4: 133,036,053 (GRCm39) probably benign Het
Zc3hav1l A T 6: 38,274,881 (GRCm39) probably benign Het
Zfp119b T G 17: 56,246,271 (GRCm39) H305P probably damaging Het
Zfp326 C T 5: 106,039,035 (GRCm39) Q134* probably null Het
Zfp975 C T 7: 42,311,263 (GRCm39) R450Q probably benign Het
Zfyve26 A T 12: 79,333,032 (GRCm39) M313K probably benign Het
Zscan5b T C 7: 6,241,965 (GRCm39) S395P possibly 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
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
Predicted Primers PCR Primer
(F):5'- TCTAAGGGGAATGCCACCTG -3'
(R):5'- TCCAACACACTTGTCACCTG -3'

Sequencing Primer
(F):5'- CCACCTGGGCAGACAAG -3'
(R):5'- GTTCAGTGACTTCCTTCTGTTACAG -3'
Posted On 2014-06-23