|Institutional Source||Beutler Lab|
|Gene Name||transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)|
|Synonyms||Abcb3, Ham-2, HAM2, Ham2, MTP2, PSF2, Tap-2|
|Is this an essential gene?||Probably non essential (E-score: 0.190)|
|Stock #||R0841 (G1)|
|Chromosomal Location||34203527-34216321 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 34215940 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 652 (D652E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000025197 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000025197] [ENSMUST00000121995]|
|Predicted Effect||possibly damaging
AA Change: D652E
PolyPhen 2 Score 0.638 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: D652E
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.068|
|Coding Region Coverage||
|Validation Efficiency||94% (45/48)|
FUNCTION: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is involved in antigen presentation. This protein forms a heterodimer with Tap1 in order to transport peptides from the cytoplasm to the endoplasmic reticulum. Mutations in the human gene may be associated with ankylosing spondylitis, insulin-dependent diabetes mellitus, and celiac disease. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutant mice have no CD8+ T cells, although their numbers of CD4+ T cells and B cells are normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tap2||
(F):5'- AGATTGTGCCTTGCCTGTGTCC -3'
(R):5'- TCCAAAACGGTCCCAATCTTTATCCTG -3'
(F):5'- CTCTCTCCAGGATGAAGAATGGTG -3'
(R):5'- CCACAGTCCTGAGAGGGG -3'