Incidental Mutation 'IGL02677:Tap2'
ID 303191
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 # IGL02677
Quality Score
Status
Chromosome 17
Chromosomal Location 34423453-34435295 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34431021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 374 (V374M)
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: V374M

PolyPhen 2 Score 0.203 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000025197
Gene: ENSMUSG00000024339
AA Change: V374M

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 noncoding transcript
Transcript: ENSMUST00000145528
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406B18Rik G T 7: 43,150,519 (GRCm39) Y84* probably null Het
Adam5 A G 8: 25,302,395 (GRCm39) probably benign Het
Aipl1 T C 11: 71,920,222 (GRCm39) E282G possibly damaging Het
Akp3 A G 1: 87,052,994 (GRCm39) D61G probably damaging Het
Anpep A G 7: 79,488,478 (GRCm39) S451P probably damaging Het
Csnka2ip A G 16: 64,298,675 (GRCm39) L119P probably damaging Het
Ddx19a T C 8: 111,716,241 (GRCm39) E53G probably benign Het
Ddx50 C T 10: 62,452,072 (GRCm39) R116Q unknown Het
Ddx60 A T 8: 62,441,166 (GRCm39) E1078D probably damaging Het
Dpy19l1 T C 9: 24,396,368 (GRCm39) D116G probably damaging Het
Dsg4 A G 18: 20,597,933 (GRCm39) T668A possibly damaging Het
Dspp A G 5: 104,323,843 (GRCm39) T329A possibly damaging Het
Eftud2 T C 11: 102,737,440 (GRCm39) T554A probably damaging Het
Enpp1 T C 10: 24,555,083 (GRCm39) probably benign Het
Ext2 A T 2: 93,537,590 (GRCm39) F599I probably damaging Het
Fahd1 A T 17: 25,068,504 (GRCm39) I191N probably damaging Het
Fcrl2 A T 3: 87,166,694 (GRCm39) S100T probably benign Het
Fras1 T A 5: 96,692,883 (GRCm39) C181S probably damaging Het
Garre1 T A 7: 33,941,834 (GRCm39) probably benign Het
Gcnt4 A G 13: 97,083,741 (GRCm39) I346V probably benign Het
Gfra1 G A 19: 58,441,787 (GRCm39) T48I probably damaging Het
Kcnma1 A G 14: 23,513,224 (GRCm39) Y392H probably damaging Het
Klc2 T C 19: 5,161,696 (GRCm39) Y298C probably damaging Het
Lamb3 G A 1: 193,021,830 (GRCm39) V1011I probably benign Het
Ldb1 T C 19: 46,024,594 (GRCm39) probably benign Het
Mcph1 A G 8: 18,675,609 (GRCm39) K11E probably damaging Het
Myc A G 15: 61,861,513 (GRCm39) H374R probably damaging Het
Myom1 A G 17: 71,391,344 (GRCm39) Y853C probably damaging Het
Or4k38 A T 2: 111,166,147 (GRCm39) I92N probably damaging Het
Pakap C T 4: 57,856,263 (GRCm39) P572S probably benign Het
Pclo A G 5: 14,726,943 (GRCm39) probably benign Het
Pde3a G A 6: 141,350,898 (GRCm39) probably benign Het
Per1 T C 11: 68,997,486 (GRCm39) V887A probably benign Het
Prokr1 G A 6: 87,565,350 (GRCm39) probably benign Het
Rb1cc1 A G 1: 6,319,643 (GRCm39) I1021V probably benign Het
Ryr1 T C 7: 28,810,033 (GRCm39) E344G probably benign Het
Sec24c A T 14: 20,739,710 (GRCm39) D529V probably damaging Het
Slc1a6 T C 10: 78,624,898 (GRCm39) V101A probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tex15 T A 8: 34,061,108 (GRCm39) D179E probably benign Het
Tmem8b T C 4: 43,686,092 (GRCm39) L241P probably damaging Het
Tmprss11g T C 5: 86,640,149 (GRCm39) D160G probably benign Het
Trim30a C T 7: 104,085,120 (GRCm39) C30Y probably damaging Het
Ttn A G 2: 76,601,840 (GRCm39) probably benign Het
Ush2a A G 1: 188,466,882 (GRCm39) R2849G probably damaging Het
Usp5 A G 6: 124,796,389 (GRCm39) V570A probably damaging Het
Vipr1 T C 9: 121,489,349 (GRCm39) probably benign Het
Zc2hc1c A C 12: 85,336,850 (GRCm39) D169A 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
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