Incidental Mutation 'R7943:Abcb1a'
ID 649148
Institutional Source Beutler Lab
Gene Symbol Abcb1a
Ensembl Gene ENSMUSG00000040584
Gene Name ATP-binding cassette, sub-family B member 1A
Synonyms Evi32, multiple drug resistant 1a, Pgp, MDR3, Pgy-3, Mdr1a, P-glycoprotein, P-gp, Pgy3, mdr-3
MMRRC Submission 045989-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7943 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 8710077-8798575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 8736222 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 205 (T205I)
Ref Sequence ENSEMBL: ENSMUSP00000041204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047753]
AlphaFold P21447
PDB Structure Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION]
Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION]
Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION]
Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION]
Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION]
Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION]
Structure of Mouse P-Glycoprotein [X-RAY DIFFRACTION]
Corrected Structure of Mouse P-glycoprotein [X-RAY DIFFRACTION]
Corrected Structure of Mouse P-glycoprotein bound to QZ59-RRR [X-RAY DIFFRACTION]
Corrected Structure of Mouse P-glycoprotein bound to QZ59-SSS [X-RAY DIFFRACTION]
>> 5 additional structures at PDB <<
Predicted Effect probably benign
Transcript: ENSMUST00000047753
AA Change: T205I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: T205I

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
Pfam:ABC_membrane 50 339 8.3e-97 PFAM
AAA 415 607 1.22e-20 SMART
Pfam:ABC_membrane 707 982 4.8e-79 PFAM
AAA 1058 1246 8.85e-18 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (68/68)
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 as well as antigen presentation. This gene encodes a p-glycoprotein which actively transports a variety of hydrophobic amphipathic drugs and plays a major role in the blood-brain barrier permeability of certain drugs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutations in this gene result in increased sensitivity to various drugs, including avermectins and vinblastine. Mice with a null allele develop spontanous colitis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg1 T C 9: 54,530,021 (GRCm39) H225R probably damaging Het
Anks1 T A 17: 28,204,178 (GRCm39) Y209N probably damaging Het
Appl1 T A 14: 26,667,525 (GRCm39) I377L probably benign Het
Arl9 A T 5: 77,158,395 (GRCm39) D159V probably damaging Het
Arsa A C 15: 89,358,292 (GRCm39) L339R probably damaging Het
C2 A G 17: 35,091,354 (GRCm39) L380P probably damaging Het
Ccdc13 A G 9: 121,628,196 (GRCm39) C97R unknown Het
Ccdc74a A G 16: 17,468,416 (GRCm39) H346R probably benign Het
Ccnl1 T C 3: 65,864,326 (GRCm39) I152V probably benign Het
Cd4 C T 6: 124,847,207 (GRCm39) probably null Het
Ceacam5 A T 7: 17,479,491 (GRCm39) I203L probably benign Het
Ckap2 C A 8: 22,665,090 (GRCm39) R458L probably damaging Het
Cldn10 T C 14: 119,099,271 (GRCm39) probably null Het
Col27a1 C T 4: 63,236,520 (GRCm39) R1377C unknown Het
Cry1 A T 10: 84,978,984 (GRCm39) M514K probably benign Het
Crybg2 T G 4: 133,800,295 (GRCm39) V176G probably damaging Het
Cyp2j5 C T 4: 96,547,849 (GRCm39) G131D possibly damaging Het
Ddx46 A G 13: 55,817,535 (GRCm39) Y720C probably damaging Het
Dock10 A T 1: 80,626,006 (GRCm39) V44D probably damaging Het
Eif1ad8 C T 12: 87,563,773 (GRCm39) A36V probably damaging Het
Enam A T 5: 88,636,410 (GRCm39) probably null Het
Fam184a C A 10: 53,509,802 (GRCm39) E126* probably null Het
Fam184a C T 10: 53,523,137 (GRCm39) A956T probably damaging Het
Fbxw10 A T 11: 62,741,487 (GRCm39) R202* probably null Het
Fnip1 A G 11: 54,393,214 (GRCm39) E550G probably damaging Het
Gpr149 A G 3: 62,438,132 (GRCm39) L675P probably damaging Het
Hivep3 T C 4: 119,989,554 (GRCm39) Y2002H probably benign Het
Hp A G 8: 110,302,187 (GRCm39) Y254H probably damaging Het
Ighg1 G T 12: 113,293,957 (GRCm39) T62N Het
Jcad A G 18: 4,672,700 (GRCm39) E154G probably damaging Het
Kmt2a A G 9: 44,760,437 (GRCm39) S471P probably damaging Het
Med13 A G 11: 86,169,352 (GRCm39) V1968A probably damaging Het
Mknk2 T A 10: 80,511,701 (GRCm39) Q3L probably benign Het
Nup98 G A 7: 101,844,029 (GRCm39) T65I probably benign Het
Or10p21 T A 10: 128,847,934 (GRCm39) M260K possibly damaging Het
Or51f1e G A 7: 102,747,153 (GRCm39) M68I probably damaging Het
Or5m11 A G 2: 85,782,342 (GRCm39) T312A probably benign Het
Or9i14 A T 19: 13,792,600 (GRCm39) M118K probably damaging Het
Pcdhgb4 C T 18: 37,855,063 (GRCm39) T486I probably benign Het
Perm1 T A 4: 156,302,991 (GRCm39) F512I probably damaging Het
Pgap3 A T 11: 98,281,227 (GRCm39) L262Q probably damaging Het
Pklr A C 3: 89,048,814 (GRCm39) Y126S probably damaging Het
Ppl C T 16: 4,906,725 (GRCm39) R1190H probably damaging Het
Ppm1k T C 6: 57,501,813 (GRCm39) T117A probably benign Het
Prkd2 G A 7: 16,584,244 (GRCm39) E366K probably benign Het
Psd C A 19: 46,313,169 (GRCm39) C67F possibly damaging Het
Ptpra T A 2: 30,322,056 (GRCm39) F100L probably damaging Het
Rftn1 G T 17: 50,354,408 (GRCm39) A318D probably damaging Het
Rock1 T C 18: 10,112,357 (GRCm39) E466G probably damaging Het
Sec16b A T 1: 157,382,327 (GRCm39) M588L probably benign Het
Serpina1f T A 12: 103,659,949 (GRCm39) H111L probably damaging Het
Sf3a1 T C 11: 4,116,537 (GRCm39) I76T possibly damaging Het
Shcbp1 A T 8: 4,798,812 (GRCm39) L369Q possibly damaging Het
Spef2 A G 15: 9,601,171 (GRCm39) M1697T unknown Het
St7 G A 6: 17,844,911 (GRCm39) C133Y probably damaging Het
Tdpoz6 A T 3: 93,600,070 (GRCm39) C100S probably benign Het
Tex19.1 T A 11: 121,037,986 (GRCm39) W115R possibly damaging Het
Tfrc T A 16: 32,449,039 (GRCm39) I726N probably benign Het
Thbs1 A G 2: 117,950,098 (GRCm39) probably null Het
Trim43a C T 9: 88,464,238 (GRCm39) P50S probably benign Het
Trpm4 A T 7: 44,958,105 (GRCm39) V935E probably damaging Het
Ttc12 A T 9: 49,381,620 (GRCm39) V117D possibly damaging Het
Ulbp1 T C 10: 7,407,053 (GRCm39) T82A probably damaging Het
Usp13 C T 3: 32,931,089 (GRCm39) H288Y probably damaging Het
Vmn2r82 A G 10: 79,232,079 (GRCm39) K693E possibly damaging Het
Vmn2r90 A G 17: 17,932,566 (GRCm39) T158A probably damaging Het
Vps8 A G 16: 21,296,622 (GRCm39) K540R possibly damaging Het
Zfp143 T A 7: 109,671,681 (GRCm39) probably null Het
Zfp709 G T 8: 72,643,933 (GRCm39) C454F probably damaging Het
Other mutations in Abcb1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00704:Abcb1a APN 5 8,736,257 (GRCm39) missense probably benign 0.01
IGL00898:Abcb1a APN 5 8,783,690 (GRCm39) missense probably damaging 0.97
IGL01064:Abcb1a APN 5 8,782,388 (GRCm39) missense possibly damaging 0.65
IGL01118:Abcb1a APN 5 8,724,687 (GRCm39) missense probably damaging 1.00
IGL01150:Abcb1a APN 5 8,752,550 (GRCm39) missense possibly damaging 0.90
IGL01584:Abcb1a APN 5 8,748,637 (GRCm39) missense possibly damaging 0.95
IGL01654:Abcb1a APN 5 8,765,065 (GRCm39) critical splice donor site probably null
IGL01820:Abcb1a APN 5 8,765,896 (GRCm39) splice site probably benign
IGL02499:Abcb1a APN 5 8,776,807 (GRCm39) missense possibly damaging 0.67
IGL02711:Abcb1a APN 5 8,773,245 (GRCm39) splice site probably null
IGL02954:Abcb1a APN 5 8,782,341 (GRCm39) missense probably benign 0.00
IGL03018:Abcb1a APN 5 8,752,451 (GRCm39) missense probably damaging 0.99
IGL03119:Abcb1a APN 5 8,764,887 (GRCm39) missense probably benign 0.00
IGL03292:Abcb1a APN 5 8,765,827 (GRCm39) missense possibly damaging 0.93
IGL03338:Abcb1a APN 5 8,744,153 (GRCm39) missense probably damaging 1.00
R0418:Abcb1a UTSW 5 8,763,281 (GRCm39) missense probably damaging 0.96
R0559:Abcb1a UTSW 5 8,748,535 (GRCm39) missense probably benign 0.01
R0595:Abcb1a UTSW 5 8,790,417 (GRCm39) missense probably damaging 1.00
R0599:Abcb1a UTSW 5 8,748,539 (GRCm39) missense probably benign 0.13
R0811:Abcb1a UTSW 5 8,763,229 (GRCm39) missense probably damaging 1.00
R0812:Abcb1a UTSW 5 8,763,229 (GRCm39) missense probably damaging 1.00
R0894:Abcb1a UTSW 5 8,724,856 (GRCm39) splice site probably benign
R0948:Abcb1a UTSW 5 8,790,621 (GRCm39) splice site probably null
R1292:Abcb1a UTSW 5 8,763,343 (GRCm39) missense probably benign 0.00
R1318:Abcb1a UTSW 5 8,751,621 (GRCm39) missense probably benign 0.31
R1459:Abcb1a UTSW 5 8,752,920 (GRCm39) missense probably damaging 1.00
R1489:Abcb1a UTSW 5 8,736,300 (GRCm39) critical splice donor site probably null
R1514:Abcb1a UTSW 5 8,724,791 (GRCm39) missense possibly damaging 0.88
R2100:Abcb1a UTSW 5 8,763,202 (GRCm39) missense probably damaging 1.00
R2409:Abcb1a UTSW 5 8,788,747 (GRCm39) missense probably benign 0.30
R2844:Abcb1a UTSW 5 8,736,164 (GRCm39) missense probably benign 0.02
R3709:Abcb1a UTSW 5 8,788,738 (GRCm39) missense probably benign 0.03
R3755:Abcb1a UTSW 5 8,797,403 (GRCm39) missense possibly damaging 0.95
R4193:Abcb1a UTSW 5 8,765,068 (GRCm39) splice site probably null
R4401:Abcb1a UTSW 5 8,752,390 (GRCm39) missense possibly damaging 0.54
R4463:Abcb1a UTSW 5 8,769,981 (GRCm39) splice site probably benign
R4539:Abcb1a UTSW 5 8,765,793 (GRCm39) missense probably benign
R4635:Abcb1a UTSW 5 8,764,927 (GRCm39) missense probably benign
R4740:Abcb1a UTSW 5 8,752,280 (GRCm39) critical splice donor site probably null
R4757:Abcb1a UTSW 5 8,787,632 (GRCm39) missense probably damaging 0.99
R4764:Abcb1a UTSW 5 8,765,732 (GRCm39) splice site probably null
R4792:Abcb1a UTSW 5 8,796,657 (GRCm39) critical splice donor site probably null
R4829:Abcb1a UTSW 5 8,773,214 (GRCm39) missense probably damaging 1.00
R4935:Abcb1a UTSW 5 8,787,773 (GRCm39) critical splice donor site probably null
R5140:Abcb1a UTSW 5 8,752,154 (GRCm39) missense probably damaging 0.99
R5181:Abcb1a UTSW 5 8,764,937 (GRCm39) missense probably benign
R5355:Abcb1a UTSW 5 8,776,873 (GRCm39) missense probably damaging 1.00
R5406:Abcb1a UTSW 5 8,752,946 (GRCm39) missense probably damaging 0.99
R5496:Abcb1a UTSW 5 8,724,818 (GRCm39) missense probably benign
R5557:Abcb1a UTSW 5 8,764,949 (GRCm39) missense probably benign 0.01
R5572:Abcb1a UTSW 5 8,765,108 (GRCm39) splice site probably null
R5702:Abcb1a UTSW 5 8,787,752 (GRCm39) missense probably benign 0.15
R5753:Abcb1a UTSW 5 8,773,160 (GRCm39) missense probably damaging 0.98
R5769:Abcb1a UTSW 5 8,733,426 (GRCm39) missense probably benign 0.01
R5895:Abcb1a UTSW 5 8,752,216 (GRCm39) missense probably damaging 1.00
R6536:Abcb1a UTSW 5 8,769,030 (GRCm39) missense probably benign 0.01
R6555:Abcb1a UTSW 5 8,752,468 (GRCm39) missense probably damaging 0.97
R6798:Abcb1a UTSW 5 8,782,364 (GRCm39) missense probably damaging 1.00
R6875:Abcb1a UTSW 5 8,751,628 (GRCm39) missense probably benign 0.28
R7000:Abcb1a UTSW 5 8,752,823 (GRCm39) missense probably benign 0.19
R7102:Abcb1a UTSW 5 8,744,072 (GRCm39) missense probably benign 0.01
R7172:Abcb1a UTSW 5 8,752,399 (GRCm39) missense probably benign 0.00
R7313:Abcb1a UTSW 5 8,773,187 (GRCm39) missense probably damaging 1.00
R7513:Abcb1a UTSW 5 8,765,771 (GRCm39) nonsense probably null
R7718:Abcb1a UTSW 5 8,765,788 (GRCm39) missense probably damaging 1.00
R7816:Abcb1a UTSW 5 8,736,132 (GRCm39) missense possibly damaging 0.56
R7829:Abcb1a UTSW 5 8,748,623 (GRCm39) missense probably benign 0.06
R8040:Abcb1a UTSW 5 8,765,035 (GRCm39) missense probably benign 0.00
R8086:Abcb1a UTSW 5 8,724,833 (GRCm39) missense probably benign
R8271:Abcb1a UTSW 5 8,736,212 (GRCm39) missense probably benign 0.41
R8367:Abcb1a UTSW 5 8,736,221 (GRCm39) missense probably benign 0.00
R8520:Abcb1a UTSW 5 8,735,346 (GRCm39) missense possibly damaging 0.67
R8680:Abcb1a UTSW 5 8,735,371 (GRCm39) missense probably damaging 0.99
R8820:Abcb1a UTSW 5 8,773,204 (GRCm39) missense possibly damaging 0.69
R8996:Abcb1a UTSW 5 8,769,069 (GRCm39) missense probably benign 0.00
R9114:Abcb1a UTSW 5 8,788,702 (GRCm39) nonsense probably null
R9127:Abcb1a UTSW 5 8,724,707 (GRCm39) missense probably benign
R9187:Abcb1a UTSW 5 8,765,016 (GRCm39) missense probably benign
R9294:Abcb1a UTSW 5 8,736,171 (GRCm39) missense probably benign 0.02
R9459:Abcb1a UTSW 5 8,735,414 (GRCm39) critical splice donor site probably null
R9581:Abcb1a UTSW 5 8,790,428 (GRCm39) missense possibly damaging 0.66
R9617:Abcb1a UTSW 5 8,797,353 (GRCm39) critical splice acceptor site probably null
R9676:Abcb1a UTSW 5 8,714,548 (GRCm39) missense possibly damaging 0.87
R9682:Abcb1a UTSW 5 8,752,507 (GRCm39) missense probably benign 0.44
R9790:Abcb1a UTSW 5 8,748,604 (GRCm39) missense probably damaging 1.00
R9791:Abcb1a UTSW 5 8,748,604 (GRCm39) missense probably damaging 1.00
Z1177:Abcb1a UTSW 5 8,796,544 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GTTTCTTGACAAAACAACACTAGGC -3'
(R):5'- TATCATGGGGCTAGCTCAACTG -3'

Sequencing Primer
(F):5'- TTGACAAAACAACACTAGGCTCAGG -3'
(R):5'- GGGGCTAGCTCAACTGATATTTTATC -3'
Posted On 2020-09-15