|Institutional Source||Beutler Lab|
|Gene Name||transformation related protein 53 binding protein 2|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R1833 (G1)|
|Chromosomal Location||182409172-182462432 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 182429016 bp|
|Amino Acid Change||Histidine to Glutamine at position 50 (H50Q)|
|Ref Sequence||ENSEMBL: ENSMUSP00000112508 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000117245]|
|Predicted Effect||probably damaging
AA Change: H50Q
PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
AA Change: H50Q
|Meta Mutation Damage Score||0.2029|
|Coding Region Coverage||
|Validation Efficiency||99% (83/84)|
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||
|Other mutations in Trp53bp2||
(F):5'- TCTAAGGGGAATGCCACCTG -3'
(R):5'- TCCAACACACTTGTCACCTG -3'
(F):5'- CCACCTGGGCAGACAAG -3'
(R):5'- GTTCAGTGACTTCCTTCTGTTACAG -3'