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 HAM2, MTP2, PSF2, Abcb3, Ham2, Ham-2, Tap-2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # IGL00095
Quality Score
Chromosome 17
Chromosomal Location 34423453-34435295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34434352 bp (GRCm39)
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

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

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: 66,679,639 (GRCm39) Y65N probably damaging Het
Catsperg2 C A 7: 29,397,483 (GRCm39) C1042F possibly damaging Het
Cluh T C 11: 74,554,890 (GRCm39) V776A probably benign Het
Crxos T A 7: 15,632,543 (GRCm39) C116* probably null Het
Csmd1 A G 8: 16,059,297 (GRCm39) probably benign Het
Cubn C A 2: 13,496,631 (GRCm39) probably benign Het
Exoc2 A G 13: 31,004,609 (GRCm39) I858T probably benign Het
Frmpd1 C A 4: 45,279,456 (GRCm39) T727K possibly damaging Het
Hapln3 T C 7: 78,771,731 (GRCm39) T53A probably damaging Het
Hnrnpul1 T A 7: 25,425,579 (GRCm39) Q584L possibly damaging Het
Ikbkb A T 8: 23,196,127 (GRCm39) F26I probably damaging Het
Il31ra A T 13: 112,684,012 (GRCm39) I120N possibly damaging Het
Itih1 C T 14: 30,651,778 (GRCm39) V855M probably benign Het
Krtap4-16 A G 11: 99,742,032 (GRCm39) S123P possibly damaging Het
Large1 C T 8: 73,564,125 (GRCm39) R547Q probably damaging Het
Madd A G 2: 91,006,111 (GRCm39) probably benign Het
Mark1 A G 1: 184,630,800 (GRCm39) V770A probably damaging Het
Mpeg1 T C 19: 12,440,074 (GRCm39) F511L probably benign Het
Mrgpra9 A G 7: 46,884,839 (GRCm39) V276A possibly damaging Het
Nav3 T C 10: 109,677,594 (GRCm39) T666A probably damaging Het
Ndufa8 T C 2: 35,934,467 (GRCm39) D37G probably damaging Het
Nlrx1 A G 9: 44,164,576 (GRCm39) L956P probably damaging Het
Nr5a1 T C 2: 38,598,353 (GRCm39) E148G probably benign Het
Or10ab5 A T 7: 108,245,043 (GRCm39) F247I possibly damaging Het
Or14c46 T C 7: 85,918,877 (GRCm39) N40S probably damaging Het
Otulinl A G 15: 27,658,202 (GRCm39) S273P possibly damaging Het
Patj A C 4: 98,423,799 (GRCm39) Q1184P possibly damaging Het
Phf20l1 A G 15: 66,500,884 (GRCm39) T619A probably benign Het
Pla2g6 T C 15: 79,173,441 (GRCm39) T643A probably damaging Het
Pramel42 T C 5: 94,685,663 (GRCm39) L441P probably damaging Het
Radil A G 5: 142,483,677 (GRCm39) S510P probably damaging Het
Spock1 A G 13: 57,735,552 (GRCm39) probably benign Het
Stag3 C T 5: 138,297,400 (GRCm39) T577M probably damaging Het
Tnn A G 1: 159,953,021 (GRCm39) V673A possibly damaging Het
Trrap T C 5: 144,716,784 (GRCm39) probably benign Het
Vmn2r28 T C 7: 5,491,068 (GRCm39) D393G probably benign Het
Zbtb48 T C 4: 152,105,851 (GRCm39) H418R probably damaging Het
Zc3h12d T C 10: 7,738,231 (GRCm39) V179A probably damaging Het
Other mutations in Tap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2011-07-12