|Institutional Source||Beutler Lab|
|Gene Name||TAP binding protein|
|Synonyms||TPN, tapasin, D17Wsu91e|
|Is this an essential gene?||Probably non essential (E-score: 0.127)|
|Stock #||R7146 (G1)|
|Chromosomal Location||33915899-33929288 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||G to A at 33925487 bp|
|Amino Acid Change||Alanine to Threonine at position 186 (A186T)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025161 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025161] [ENSMUST00000047503]|
|Predicted Effect||possibly damaging
AA Change: A186T
PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
AA Change: A186T
|Predicted Effect||probably benign
|Coding Region Coverage||
|Validation Efficiency||95% (99/104)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced and thermolabile MHC class I surface expression due to impaired peptide loading with stabilizing peptides, impaired T cell selection, altered NK repertoire, lower CD8+ T cell numbers, and impaired responses to select class I-restricted antigens. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tapbp||
(F):5'- AGGGCTGCAAACCTCTCATC -3'
(R):5'- CAAGCTGCAAATGCCGTAGC -3'
(F):5'- ATTGTAAATGGATGTGTCCCTGAAGC -3'
(R):5'- AAATGCCGTAGCCTTTTCCTGG -3'