Incidental Mutation 'ANU05:Tap2'
ID 262516
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 # ANU05
Quality Score 196
Status Not validated
Chromosome 17
Chromosomal Location 34423453-34435295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34428184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 286 (Q286L)
Ref Sequence ENSEMBL: ENSMUSP00000025197 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025197] [ENSMUST00000121995] [ENSMUST00000131105] [ENSMUST00000138491]
AlphaFold P36371
Predicted Effect probably benign
Transcript: ENSMUST00000025197
AA Change: Q286L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: Q286L

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 benign
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 benign
Transcript: ENSMUST00000138491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145528
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172796
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.5%
  • 20x: 93.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,834,475 (GRCm39) V124I probably damaging Het
Acaca A G 11: 84,206,678 (GRCm39) K1513E probably damaging Het
Acacb T A 5: 114,363,931 (GRCm39) F1464Y probably benign Het
Adgrg6 G A 10: 14,286,274 (GRCm39) A1114V possibly damaging Het
Agl A G 3: 116,566,438 (GRCm39) I975T possibly damaging Het
Akap7 T C 10: 25,147,451 (GRCm39) H93R probably damaging Het
Arhgef11 T C 3: 87,640,481 (GRCm39) W1213R probably benign Het
Ccar1 T A 10: 62,592,428 (GRCm39) E708V probably damaging Het
Cfap206 C T 4: 34,721,562 (GRCm39) S162N probably damaging Het
Cilp T C 9: 65,186,265 (GRCm39) S787P possibly damaging Het
Col6a3 G A 1: 90,730,014 (GRCm39) T1157I probably damaging Het
D630003M21Rik T C 2: 158,038,308 (GRCm39) Y1046C probably benign Het
Dock3 A G 9: 106,772,862 (GRCm39) S464P probably benign Het
Dusp19 A G 2: 80,454,618 (GRCm39) T113A probably benign Het
Dync1h1 A C 12: 110,615,538 (GRCm39) Y2957S probably benign Het
Epdr1 T C 13: 19,778,814 (GRCm39) Y94C probably damaging Het
Fcho1 A T 8: 72,165,191 (GRCm39) L422Q probably benign Het
Gca T A 2: 62,520,787 (GRCm39) Y210* probably null Het
Gpnmb T C 6: 49,032,615 (GRCm39) V513A probably benign Het
Irx4 A G 13: 73,415,786 (GRCm39) T192A probably damaging Het
Isca1 T C 13: 59,906,785 (GRCm39) T54A probably benign Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
L3mbtl1 T C 2: 162,812,100 (GRCm39) V715A probably benign Het
Lama1 G A 17: 68,045,865 (GRCm39) D257N probably damaging Het
Lgr5 T C 10: 115,314,439 (GRCm39) H166R probably damaging Het
M6pr A G 6: 122,289,218 (GRCm39) R9G probably benign Het
Nmt2 T G 2: 3,315,731 (GRCm39) S240R probably benign Het
Npas3 A G 12: 54,114,857 (GRCm39) E593G possibly damaging Het
Or8k30 G A 2: 86,339,513 (GRCm39) A237T possibly damaging Het
Pank4 T C 4: 155,059,103 (GRCm39) M412T probably damaging Het
Psd A G 19: 46,303,186 (GRCm39) V100A possibly damaging Het
Rab11fip3 T C 17: 26,235,087 (GRCm39) T28A probably damaging Het
Rnpepl1 A T 1: 92,847,468 (GRCm39) D685V probably benign Het
Rrad T C 8: 105,357,283 (GRCm39) E88G probably benign Het
Sdk2 T A 11: 113,733,906 (GRCm39) M846L probably benign Het
Sparcl1 A T 5: 104,242,581 (GRCm39) V36E possibly damaging Het
Spmip5 A T 19: 58,777,545 (GRCm39) H80Q probably damaging Het
Srrm4 C T 5: 116,605,628 (GRCm39) E210K unknown Het
Stk25 A T 1: 93,551,145 (GRCm39) probably null Het
Tacr3 A T 3: 134,635,810 (GRCm39) Y338F probably damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tubgcp5 C A 7: 55,458,277 (GRCm39) A396E possibly damaging Het
Ube2o T C 11: 116,430,960 (GRCm39) D980G probably damaging Het
Vmn1r86 T C 7: 12,836,433 (GRCm39) M98V probably benign Het
Vmn2r58 T A 7: 41,513,935 (GRCm39) H236L probably benign Het
Zfp521 T C 18: 13,950,303 (GRCm39) H1217R probably damaging Het
Zfyve1 A T 12: 83,601,779 (GRCm39) F110I probably benign 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGAGGAAGGTTTTGGGTTCCCATC -3'
(R):5'- TCTGAGAAGCTCACTGGAAGGCAG -3'

Sequencing Primer
(F):5'- GGGTTCCCATCATCCTTTCTG -3'
(R):5'- tctactacctacctatccatccac -3'
Posted On 2015-02-04