Incidental Mutation 'IGL02488:Tap2'
ID 295533
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 HAM2, MTP2, PSF2, Abcb3, Ham2, Ham-2, Tap-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # IGL02488
Quality Score
Status
Chromosome 17
Chromosomal Location 34423453-34435295 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 34433616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112395 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025197] [ENSMUST00000121995]
AlphaFold P36371
Predicted Effect probably benign
Transcript: ENSMUST00000025197
SMART Domains Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Matn1 G T 4: 130,671,804 (GRCm39) V24F probably benign Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging Het
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
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
3370:Tap2 UTSW 17 34,428,253 (GRCm39) splice site probably null
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
Posted On 2015-04-16