Incidental Mutation 'IGL00095:Tap2'
ID 801
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tap2
Ensembl Gene ENSMUSG00000024339
Gene Name transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
Synonyms Abcb3, Ham-2, HAM2, Ham2, MTP2, PSF2, Tap-2
Accession Numbers

Genbank: NM_011530; MGI: 98484
Essential gene? Probably non essential (E-score: 0.135) question?
Stock # IGL00095
Quality Score
Status
Chromosome 17
Chromosomal Location 34203527-34216321 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34215378 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 613 (R613C)
Ref Sequence ENSEMBL: ENSMUSP00000025197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025197] [ENSMUST00000121995]
AlphaFold P36371
Predicted Effect probably benign
Transcript: ENSMUST00000025197
AA Change: R613C

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: R613C

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
Coding Region Coverage
Validation Efficiency
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cadm2 A T 16: 66,882,751 Y65N probably damaging Het
Catsperg2 C A 7: 29,698,058 C1042F possibly damaging Het
Cluh T C 11: 74,664,064 V776A probably benign Het
Crxos T A 7: 15,898,618 C116* probably null Het
Csmd1 A G 8: 16,009,297 probably benign Het
Cubn C A 2: 13,491,820 probably benign Het
Exoc2 A G 13: 30,820,626 I858T probably benign Het
Fam105a A G 15: 27,658,116 S273P possibly damaging Het
Frmpd1 C A 4: 45,279,456 T727K possibly damaging Het
Gm3139 T C 5: 94,537,804 L441P probably damaging Het
Hapln3 T C 7: 79,121,983 T53A probably damaging Het
Hnrnpul1 T A 7: 25,726,154 Q584L possibly damaging Het
Ikbkb A T 8: 22,706,111 F26I probably damaging Het
Il31ra A T 13: 112,547,478 I120N possibly damaging Het
Itih1 C T 14: 30,929,821 V855M probably benign Het
Krtap4-16 A G 11: 99,851,206 S123P possibly damaging Het
Large1 C T 8: 72,837,497 R547Q probably damaging Het
Madd A G 2: 91,175,766 probably benign Het
Mark1 A G 1: 184,898,603 V770A probably damaging Het
Mpeg1 T C 19: 12,462,710 F511L probably benign Het
Mrgpra9 A G 7: 47,235,091 V276A possibly damaging Het
Nav3 T C 10: 109,841,733 T666A probably damaging Het
Ndufa8 T C 2: 36,044,455 D37G probably damaging Het
Nlrx1 A G 9: 44,253,279 L956P probably damaging Het
Nr5a1 T C 2: 38,708,341 E148G probably benign Het
Olfr310 T C 7: 86,269,669 N40S probably damaging Het
Olfr509 A T 7: 108,645,836 F247I possibly damaging Het
Patj A C 4: 98,535,562 Q1184P possibly damaging Het
Phf20l1 A G 15: 66,629,035 T619A probably benign Het
Pla2g6 T C 15: 79,289,241 T643A probably damaging Het
Radil A G 5: 142,497,922 S510P probably damaging Het
Spock1 A G 13: 57,587,739 probably benign Het
Stag3 C T 5: 138,299,138 T577M probably damaging Het
Tnn A G 1: 160,125,451 V673A possibly damaging Het
Trrap T C 5: 144,779,974 probably benign Het
Vmn2r28 T C 7: 5,488,069 D393G probably benign Het
Zbtb48 T C 4: 152,021,394 H418R probably damaging Het
Zc3h12d T C 10: 7,862,467 V179A probably damaging Het
Other mutations in Tap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00802:Tap2 APN 17 34209130 missense probably damaging 0.96
IGL01291:Tap2 APN 17 34209210 missense probably benign 0.01
IGL01337:Tap2 APN 17 34205412 unclassified probably benign
IGL01549:Tap2 APN 17 34214329 missense probably benign 0.12
IGL02433:Tap2 APN 17 34205419 unclassified probably benign
IGL02488:Tap2 APN 17 34214642 unclassified probably benign
IGL02657:Tap2 APN 17 34205458 missense probably damaging 0.99
IGL02677:Tap2 APN 17 34212047 missense probably benign 0.20
IGL03183:Tap2 APN 17 34205425 unclassified probably benign
date UTSW 17 34212354 missense probably damaging 0.99
date2 UTSW 17 34214032 nonsense probably null
ganymede UTSW 17 small insertion
hebe UTSW 17 small insertion
juventas UTSW 17 small insertion
Palm UTSW 17 34215940 missense possibly damaging 0.64
3370:Tap2 UTSW 17 34209279 splice site probably null
ANU05:Tap2 UTSW 17 34209210 missense probably benign 0.01
FR4976:Tap2 UTSW 17 34205699 unclassified probably benign
R0595:Tap2 UTSW 17 34212354 missense probably damaging 0.99
R0841:Tap2 UTSW 17 34215940 missense possibly damaging 0.64
R1145:Tap2 UTSW 17 34215940 missense possibly damaging 0.64
R1145:Tap2 UTSW 17 34215940 missense possibly damaging 0.64
R1296:Tap2 UTSW 17 34211915 missense probably benign 0.12
R1567:Tap2 UTSW 17 34214091 missense probably benign 0.00
R1656:Tap2 UTSW 17 34205953 missense possibly damaging 0.64
R1693:Tap2 UTSW 17 34209212 missense probably benign 0.00
R2246:Tap2 UTSW 17 34208801 missense possibly damaging 0.82
R2251:Tap2 UTSW 17 34211954 missense probably damaging 0.98
R2937:Tap2 UTSW 17 34212354 missense possibly damaging 0.80
R4682:Tap2 UTSW 17 34214032 nonsense probably null
R5262:Tap2 UTSW 17 34214016 missense probably benign
R6052:Tap2 UTSW 17 34214709 missense probably damaging 1.00
R6151:Tap2 UTSW 17 34212047 missense probably benign 0.00
R6196:Tap2 UTSW 17 34214410 missense possibly damaging 0.50
R7020:Tap2 UTSW 17 34214414 missense possibly damaging 0.78
R7677:Tap2 UTSW 17 34205520 missense probably benign 0.01
R7694:Tap2 UTSW 17 34205697 missense probably benign
R8129:Tap2 UTSW 17 34205698 missense probably benign 0.01
R8256:Tap2 UTSW 17 34216032 missense probably benign 0.04
R9157:Tap2 UTSW 17 34212030 missense possibly damaging 0.85
Z1177:Tap2 UTSW 17 34205668 missense probably benign 0.00
Posted On 2011-07-12