Incidental Mutation '3370:Tap2'
ID 72
Institutional Source Beutler Lab
Gene Symbol Tap2
Ensembl Gene ENSMUSG00000024339
Gene Name transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
Synonyms HAM2, MTP2, PSF2, Abcb3, Ham2, Ham-2, Tap-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # 3370 of strain dazzle
Quality Score
Status Validated
Chromosome 17
Chromosomal Location 34423453-34435295 bp(+) (GRCm39)
Type of Mutation splice site (3911 bp from exon)
DNA Base Change (assembly) A to G at 34428253 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118916 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025197] [ENSMUST00000121995] [ENSMUST00000131105] [ENSMUST00000138491]
AlphaFold P36371
Predicted Effect probably damaging
Transcript: ENSMUST00000025197
AA Change: Y309C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: Y309C

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
transmembrane domain 55 77 N/A INTRINSIC
transmembrane domain 97 119 N/A INTRINSIC
Pfam:ABC_membrane 151 419 1.8e-62 PFAM
AAA 494 678 2.58e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121995
SMART Domains Protein: ENSMUSP00000112395
Gene: ENSMUSG00000081512

DomainStartEndE-ValueType
low complexity region 124 136 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127543
Predicted Effect probably null
Transcript: ENSMUST00000131105
SMART Domains Protein: ENSMUSP00000118700
Gene: ENSMUSG00000024339

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
transmembrane domain 57 79 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000138491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172796
Meta Mutation Damage Score 0.7990 question?
Coding Region Coverage
  • 1x: 78.5%
  • 3x: 41.6%
Validation Efficiency 55% (17/31)
MGI Phenotype 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

All alleles(1) : Chemically induced(1)

Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca3a2 C T 3: 144,783,738 (GRCm39) A626T probably damaging Homo
Dido1 A G 2: 180,313,335 (GRCm39) M979T probably benign Homo
Mnx1 A G 5: 29,679,885 (GRCm39) C241R unknown Homo
Rab38 A G 7: 88,139,859 (GRCm39) H176R probably benign Homo
Tmem167 A C 13: 90,246,585 (GRCm39) K36N probably damaging Homo
Other mutations in Tap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Tap2 APN 17 34,434,352 (GRCm39) missense probably benign 0.09
IGL00802:Tap2 APN 17 34,428,104 (GRCm39) missense probably damaging 0.96
IGL01291:Tap2 APN 17 34,428,184 (GRCm39) missense probably benign 0.01
IGL01337:Tap2 APN 17 34,424,386 (GRCm39) unclassified probably benign
IGL01549:Tap2 APN 17 34,433,303 (GRCm39) missense probably benign 0.12
IGL02433:Tap2 APN 17 34,424,393 (GRCm39) unclassified probably benign
IGL02488:Tap2 APN 17 34,433,616 (GRCm39) unclassified probably benign
IGL02657:Tap2 APN 17 34,424,432 (GRCm39) missense probably damaging 0.99
IGL02677:Tap2 APN 17 34,431,021 (GRCm39) missense probably benign 0.20
IGL03183:Tap2 APN 17 34,424,399 (GRCm39) unclassified probably benign
date UTSW 17 34,431,328 (GRCm39) missense probably damaging 0.99
date2 UTSW 17 34,433,006 (GRCm39) nonsense probably null
ganymede UTSW 17 0 () small insertion
hebe UTSW 17 0 () small insertion
juventas UTSW 17 0 () small insertion
Palm UTSW 17 34,434,914 (GRCm39) missense possibly damaging 0.64
ANU05:Tap2 UTSW 17 34,428,184 (GRCm39) missense probably benign 0.01
FR4976:Tap2 UTSW 17 34,424,673 (GRCm39) unclassified probably benign
R0595:Tap2 UTSW 17 34,431,328 (GRCm39) missense probably damaging 0.99
R0841:Tap2 UTSW 17 34,434,914 (GRCm39) missense possibly damaging 0.64
R1145:Tap2 UTSW 17 34,434,914 (GRCm39) missense possibly damaging 0.64
R1145:Tap2 UTSW 17 34,434,914 (GRCm39) missense possibly damaging 0.64
R1296:Tap2 UTSW 17 34,430,889 (GRCm39) missense probably benign 0.12
R1567:Tap2 UTSW 17 34,433,065 (GRCm39) missense probably benign 0.00
R1656:Tap2 UTSW 17 34,424,927 (GRCm39) missense possibly damaging 0.64
R1693:Tap2 UTSW 17 34,428,186 (GRCm39) missense probably benign 0.00
R2246:Tap2 UTSW 17 34,427,775 (GRCm39) missense possibly damaging 0.82
R2251:Tap2 UTSW 17 34,430,928 (GRCm39) missense probably damaging 0.98
R2937:Tap2 UTSW 17 34,431,328 (GRCm39) missense possibly damaging 0.80
R4682:Tap2 UTSW 17 34,433,006 (GRCm39) nonsense probably null
R5262:Tap2 UTSW 17 34,432,990 (GRCm39) missense probably benign
R6052:Tap2 UTSW 17 34,433,683 (GRCm39) missense probably damaging 1.00
R6151:Tap2 UTSW 17 34,431,021 (GRCm39) missense probably benign 0.00
R6196:Tap2 UTSW 17 34,433,384 (GRCm39) missense possibly damaging 0.50
R7020:Tap2 UTSW 17 34,433,388 (GRCm39) missense possibly damaging 0.78
R7677:Tap2 UTSW 17 34,424,494 (GRCm39) missense probably benign 0.01
R7694:Tap2 UTSW 17 34,424,671 (GRCm39) missense probably benign
R8129:Tap2 UTSW 17 34,424,672 (GRCm39) missense probably benign 0.01
R8256:Tap2 UTSW 17 34,435,006 (GRCm39) missense probably benign 0.04
R9157:Tap2 UTSW 17 34,431,004 (GRCm39) missense possibly damaging 0.85
Z1177:Tap2 UTSW 17 34,424,642 (GRCm39) missense probably benign 0.00
Nature of Mutation
DNA sequencing using the SOLiD technique identified an A to G transition at position 1079 of the Tap2 transcript in exon 5 of 12 total exons. The mutated nucleotide causes a tyrosine to cysteine substitution at amino acid 309 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
Please see the record for ganymede, for more information on the Tap2 gene.
 
The Y309C change occurs in the seventh transmembrane domain of the protein, and is predicted to be probably damaging by the PolyPhen program.
Posted On 2009-12-08