Incidental Mutation 'R0839:Tapbp'
ID 78136
Institutional Source Beutler Lab
Gene Symbol Tapbp
Ensembl Gene ENSMUSG00000024308
Gene Name TAP binding protein
Synonyms TPN, D17Wsu91e, tapasin
MMRRC Submission 039018-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0839 (G1)
Quality Score 225
Status Not validated
Chromosome 17
Chromosomal Location 34138452-34148264 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34144717 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 271 (V271A)
Ref Sequence ENSEMBL: ENSMUSP00000025161 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025161] [ENSMUST00000047503]
AlphaFold Q9R233
Predicted Effect probably benign
Transcript: ENSMUST00000025161
AA Change: V271A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000025161
Gene: ENSMUSG00000024308
AA Change: V271A

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
low complexity region 48 65 N/A INTRINSIC
low complexity region 127 152 N/A INTRINSIC
IG 168 292 3.45e0 SMART
IG_like 302 406 4.78e1 SMART
transmembrane domain 416 438 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000047503
SMART Domains Protein: ENSMUSP00000041082
Gene: ENSMUSG00000041354

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
low complexity region 44 63 N/A INTRINSIC
RasGEFN 87 212 9.54e-30 SMART
RasGEF 239 514 7.15e-106 SMART
low complexity region 578 592 N/A INTRINSIC
low complexity region 602 619 N/A INTRINSIC
low complexity region 633 648 N/A INTRINSIC
RA 649 736 2.05e-19 SMART
low complexity region 737 762 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172489
SMART Domains Protein: ENSMUSP00000133332
Gene: ENSMUSG00000024308

DomainStartEndE-ValueType
IG 18 142 3.45e0 SMART
SCOP:d2fbjh2 143 189 2e-3 SMART
Blast:IG_like 152 206 6e-31 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172653
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173153
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173266
Coding Region Coverage
  • 1x: 99.5%
  • 3x: 99.0%
  • 10x: 97.8%
  • 20x: 96.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane glycoprotein which mediates interaction between newly assembled major histocompatibility complex (MHC) class I molecules and the transporter associated with antigen processing (TAP), which is required for the transport of antigenic peptides across the endoplasmic reticulum membrane. This interaction is essential for optimal peptide loading on the MHC class I molecule. Up to four complexes of MHC class I and this protein may be bound to a single TAP molecule. This protein contains a C-terminal double-lysine motif (KKKAE) known to maintain membrane proteins in the endoplasmic reticulum. This gene lies within the major histocompatibility complex on chromosome 6. Alternative splicing results in three transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this gene leads to reduced and thermolabile MHC class I surface expression due to impaired peptide loading with stabilizing peptides, impaired T cell selection, altered NK repertoire, lower CD8+ T cell numbers, and impaired responses to select class I-restricted antigens. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 G A 3: 121,920,527 (GRCm39) V1083M probably damaging Het
Aco2 A G 15: 81,791,736 (GRCm39) probably null Het
AI661453 A T 17: 47,747,752 (GRCm39) Q8L probably null Het
Ankrd42 T C 7: 92,261,980 (GRCm39) D295G possibly damaging Het
Ccdc73 A T 2: 104,821,442 (GRCm39) I464L probably benign Het
Cdc5l A C 17: 45,704,073 (GRCm39) M717R probably benign Het
Col4a1 G A 8: 11,271,015 (GRCm39) P809S probably damaging Het
Dctn1 T C 6: 83,167,459 (GRCm39) M358T possibly damaging Het
Dgkz A G 2: 91,765,456 (GRCm39) S799P probably benign Het
Dna2 T C 10: 62,805,561 (GRCm39) C933R probably damaging Het
Dock6 T C 9: 21,729,188 (GRCm39) N1275S probably benign Het
Ect2l A G 10: 18,017,652 (GRCm39) I659T probably benign Het
Ets1 T A 9: 32,645,357 (GRCm39) Y201* probably null Het
Gle1 T A 2: 29,848,462 (GRCm39) C679S probably benign Het
Gm10118 T G 10: 63,762,643 (GRCm39) probably benign Het
Guk1 G A 11: 59,075,921 (GRCm39) R146C probably damaging Het
H2-Q7 A G 17: 35,658,688 (GRCm39) S109G probably damaging Het
Igfn1 A G 1: 135,882,418 (GRCm39) V2809A probably damaging Het
Izumo1 T A 7: 45,276,536 (GRCm39) D366E probably benign Het
Kctd20 A T 17: 29,176,872 (GRCm39) M1L possibly damaging Het
Lct C T 1: 128,214,346 (GRCm39) A1809T probably benign Het
Manea T C 4: 26,327,983 (GRCm39) I353V probably damaging Het
Mybl2 T C 2: 162,917,688 (GRCm39) Y65H probably benign Het
Myh11 C T 16: 14,021,042 (GRCm39) E1744K probably damaging Het
Neb T C 2: 52,167,560 (GRCm39) D1922G probably damaging Het
Nepro C A 16: 44,556,382 (GRCm39) D513E probably benign Het
Nnt A T 13: 119,531,192 (GRCm39) I185K possibly damaging Het
Npat A T 9: 53,456,480 (GRCm39) Q17L probably damaging Het
Nup155 A G 15: 8,175,071 (GRCm39) E956G possibly damaging Het
Or1e35 T A 11: 73,798,138 (GRCm39) Y60F probably damaging Het
Or1x6 A G 11: 50,939,254 (GRCm39) I107V probably benign Het
Or2a14 T A 6: 43,130,558 (GRCm39) F106L probably benign Het
Or4q3 A G 14: 50,583,545 (GRCm39) V118A probably damaging Het
Or8g18 A T 9: 39,149,146 (GRCm39) N191K possibly damaging Het
Or8g4 A T 9: 39,661,687 (GRCm39) I2L probably benign Het
Or9e1 G A 11: 58,732,478 (GRCm39) M179I probably benign Het
Pah T C 10: 87,357,924 (GRCm39) S16P probably damaging Het
Pcdh15 C A 10: 74,462,614 (GRCm39) P1365Q probably null Het
Pds5b G T 5: 150,688,427 (GRCm39) V640F probably benign Het
Pgam5 A T 5: 110,414,996 (GRCm39) H72Q probably benign Het
Plagl2 C A 2: 153,074,461 (GRCm39) A147S probably damaging Het
Ppfia4 A T 1: 134,256,545 (GRCm39) L113Q probably null Het
Ppp1r12a T C 10: 108,034,722 (GRCm39) V89A probably damaging Het
Ptprc A G 1: 138,028,870 (GRCm39) Y443H possibly damaging Het
Ralgapb T C 2: 158,315,203 (GRCm39) probably null Het
Rgsl1 A G 1: 153,677,980 (GRCm39) probably null Het
Rubcn A C 16: 32,647,713 (GRCm39) I681M probably damaging Het
Scaf11 A G 15: 96,321,434 (GRCm39) L169S probably damaging Het
Scgb1b27 A G 7: 33,721,276 (GRCm39) K55E probably benign Het
Sos1 A T 17: 80,741,159 (GRCm39) I542N probably damaging Het
Syf2 T A 4: 134,663,374 (GRCm39) V182D probably damaging Het
Tmem33 T A 5: 67,421,651 (GRCm39) L60Q probably damaging Het
Tmf1 A G 6: 97,153,284 (GRCm39) V263A probably damaging Het
Vps13c T C 9: 67,806,020 (GRCm39) V798A probably benign Het
Zfp384 C A 6: 125,013,631 (GRCm39) D550E probably benign Het
Other mutations in Tapbp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00093:Tapbp APN 17 34,138,866 (GRCm39) missense probably benign
IGL00229:Tapbp APN 17 34,144,678 (GRCm39) missense probably damaging 1.00
R0002:Tapbp UTSW 17 34,144,606 (GRCm39) missense probably damaging 0.98
R0416:Tapbp UTSW 17 34,144,392 (GRCm39) missense probably damaging 0.99
R0800:Tapbp UTSW 17 34,145,227 (GRCm39) missense probably benign 0.39
R1584:Tapbp UTSW 17 34,138,914 (GRCm39) splice site probably null
R1617:Tapbp UTSW 17 34,139,405 (GRCm39) missense probably benign 0.06
R2214:Tapbp UTSW 17 34,139,300 (GRCm39) missense possibly damaging 0.90
R3941:Tapbp UTSW 17 34,139,457 (GRCm39) missense possibly damaging 0.91
R4570:Tapbp UTSW 17 34,145,427 (GRCm39) missense probably damaging 1.00
R4571:Tapbp UTSW 17 34,145,427 (GRCm39) missense probably damaging 1.00
R4935:Tapbp UTSW 17 34,144,596 (GRCm39) missense probably benign 0.02
R6195:Tapbp UTSW 17 34,138,956 (GRCm39) missense probably damaging 1.00
R6233:Tapbp UTSW 17 34,138,956 (GRCm39) missense probably damaging 1.00
R6468:Tapbp UTSW 17 34,145,072 (GRCm39) missense probably damaging 1.00
R6736:Tapbp UTSW 17 34,138,931 (GRCm39) missense possibly damaging 0.85
R7139:Tapbp UTSW 17 34,139,022 (GRCm39) missense possibly damaging 0.46
R7146:Tapbp UTSW 17 34,144,461 (GRCm39) missense possibly damaging 0.93
R7233:Tapbp UTSW 17 34,138,943 (GRCm39) missense probably damaging 0.99
R7448:Tapbp UTSW 17 34,139,391 (GRCm39) missense possibly damaging 0.70
R7630:Tapbp UTSW 17 34,139,318 (GRCm39) missense probably benign 0.02
R8545:Tapbp UTSW 17 34,139,291 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- GGGAAAGGGTCACCTGCTGTTG -3'
(R):5'- TCTAGAACTTCCTCCTGGGCCG -3'

Sequencing Primer
(F):5'- CTGCTGTTGGCTGCCAC -3'
(R):5'- GGTAACTGAGGGAATTAACCTCC -3'
Posted On 2013-10-16