Incidental Mutation 'R7000:Abcb1a'
ID 544459
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 045105-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7000 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 8710077-8798575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8752823 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 525 (A525T)
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: A525T

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: A525T

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: 99.8%
  • 20x: 99.3%
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 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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A G 7: 45,654,946 (GRCm39) I515T possibly damaging Het
Abi1 G A 2: 22,832,053 (GRCm39) A420V probably damaging Het
Abtb2 A T 2: 103,542,787 (GRCm39) I887F possibly damaging Het
Acap3 G A 4: 155,988,306 (GRCm39) G602S possibly damaging Het
Auts2 T A 5: 131,469,056 (GRCm39) T754S probably benign Het
AW551984 T C 9: 39,512,085 (GRCm39) R12G probably benign Het
Bcan G A 3: 87,895,686 (GRCm39) R817* probably null Het
Bmp10 A G 6: 87,411,175 (GRCm39) T323A probably benign Het
Bpnt1 T C 1: 185,082,053 (GRCm39) L165P probably damaging Het
Casz1 G A 4: 149,013,693 (GRCm39) A86T probably damaging Het
Ccn3 A T 15: 54,615,743 (GRCm39) T303S probably damaging Het
Cd1d2 T C 3: 86,895,080 (GRCm39) F189L probably benign Het
Cep72 A G 13: 74,206,444 (GRCm39) M126T probably damaging Het
Cep85l T A 10: 53,174,295 (GRCm39) T483S probably damaging Het
Cfi C A 3: 129,666,522 (GRCm39) T415K probably damaging Het
Chrna7 A G 7: 62,755,787 (GRCm39) L253S probably damaging Het
Col4a4 T C 1: 82,475,051 (GRCm39) H596R unknown Het
Cplx3 G C 9: 57,523,231 (GRCm39) Q109E probably benign Het
Cyp2j8 A T 4: 96,335,588 (GRCm39) M402K probably benign Het
Cyp3a16 T A 5: 145,399,980 (GRCm39) probably null Het
Dhdh T C 7: 45,124,698 (GRCm39) K332E possibly damaging Het
Dnah11 C A 12: 117,981,396 (GRCm39) C2590F probably damaging Het
Dnah17 T C 11: 117,916,528 (GRCm39) probably null Het
Dtx1 A G 5: 120,833,148 (GRCm39) Y97H probably damaging Het
Duxf1 T C 10: 58,058,814 (GRCm39) T647A possibly damaging Het
Elf1 A G 14: 79,808,208 (GRCm39) D183G probably damaging Het
Esyt3 A C 9: 99,204,206 (GRCm39) L94R probably damaging Het
Exoc3 A G 13: 74,330,285 (GRCm39) Y521H probably benign Het
F5 C T 1: 164,007,075 (GRCm39) T293M probably damaging Het
Fam118b A T 9: 35,146,560 (GRCm39) H102Q probably damaging Het
Flad1 T C 3: 89,309,549 (GRCm39) probably benign Het
Flrt3 G A 2: 140,502,804 (GRCm39) R275* probably null Het
Fndc7 G A 3: 108,783,964 (GRCm39) A215V probably benign Het
Fscn1 T A 5: 142,946,382 (GRCm39) V60E probably damaging Het
Gm17175 A T 14: 51,811,418 (GRCm39) M1K probably null Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Gprc6a T C 10: 51,491,143 (GRCm39) S694G probably benign Het
Iglon5 A T 7: 43,126,254 (GRCm39) probably null Het
Iqch T C 9: 63,361,892 (GRCm39) T874A probably benign Het
Lamc2 T A 1: 153,041,873 (GRCm39) H87L possibly damaging Het
Ldlrad1 T A 4: 107,066,777 (GRCm39) D37E probably benign Het
Loxhd1 T C 18: 77,460,129 (GRCm39) probably null Het
Lxn T G 3: 67,369,704 (GRCm39) E60D probably benign Het
Man2b2 A G 5: 36,979,213 (GRCm39) W276R probably damaging Het
Mast1 T C 8: 85,655,598 (GRCm39) Y182C probably damaging Het
Mroh8 C T 2: 157,058,897 (GRCm39) R923Q probably benign Het
Obscn A G 11: 59,026,864 (GRCm39) L113P probably damaging Het
Ocln C T 13: 100,671,470 (GRCm39) probably null Het
Oog2 A T 4: 143,921,897 (GRCm39) Q269L probably damaging Het
Or52e8 G A 7: 104,624,338 (GRCm39) P285S probably damaging Het
Or5b113 A G 19: 13,341,987 (GRCm39) probably benign Het
Osbpl3 A G 6: 50,274,137 (GRCm39) S826P probably damaging Het
Otogl T C 10: 107,615,692 (GRCm39) N1869S probably benign Het
Pamr1 G A 2: 102,441,968 (GRCm39) D186N probably damaging Het
Pcdhga8 T A 18: 37,859,946 (GRCm39) I334K probably benign Het
Pde7b A G 10: 20,319,038 (GRCm39) S95P probably damaging Het
Pik3cg A T 12: 32,242,128 (GRCm39) V994E probably damaging Het
Pkp1 T C 1: 135,817,692 (GRCm39) M148V probably benign Het
Plbd1 T G 6: 136,589,836 (GRCm39) K461Q probably benign Het
Pmfbp1 A G 8: 110,257,221 (GRCm39) E594G possibly damaging Het
Pold3 A T 7: 99,755,865 (GRCm39) H60Q probably damaging Het
Polr3gl C T 3: 96,487,783 (GRCm39) R52Q possibly damaging Het
Ptgds A G 2: 25,357,828 (GRCm39) probably null Het
Scarb2 T C 5: 92,601,934 (GRCm39) D320G probably benign Het
Sdk2 T C 11: 113,693,995 (GRCm39) Y1812C probably damaging Het
Skint8 C A 4: 111,794,222 (GRCm39) T204N probably benign Het
Slc23a2 T C 2: 131,936,123 (GRCm39) Q49R possibly damaging Het
Slc26a7 T C 4: 14,552,476 (GRCm39) Q227R probably benign Het
Sntn C T 14: 13,679,108 (GRCm38) T94I probably damaging Het
Spem2 C T 11: 69,708,582 (GRCm39) G128S probably benign Het
Supt16 A T 14: 52,408,907 (GRCm39) S822R probably damaging Het
Syn3 T C 10: 85,916,116 (GRCm39) Y290C probably damaging Het
Tdrd6 C G 17: 43,938,599 (GRCm39) E816D probably benign Het
Tln1 A T 4: 43,556,302 (GRCm39) M72K probably damaging Het
Tlnrd1 A G 7: 83,531,987 (GRCm39) V148A probably damaging Het
Trim24 C A 6: 37,935,613 (GRCm39) T832K probably benign Het
Ubr4 C T 4: 139,141,715 (GRCm39) A1267V probably damaging Het
Usp17lb A T 7: 104,490,492 (GRCm39) M145K probably damaging Het
Vmn1r178 T A 7: 23,593,762 (GRCm39) M270K probably benign Het
Vmn2r70 A T 7: 85,208,819 (GRCm39) C553S probably damaging Het
Vps37c G T 19: 10,687,693 (GRCm39) E51D probably damaging Het
Zfp62 T G 11: 49,107,206 (GRCm39) Y432* probably null 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
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
R7943:Abcb1a UTSW 5 8,736,222 (GRCm39) missense probably benign
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'- CTCTGAGGTAGAACAAGTGCC -3'
(R):5'- TGGTAACAGGTGATACAAGCTATC -3'

Sequencing Primer
(F):5'- CAAGTGCCTTAGCTGGGAAATCC -3'
(R):5'- CTTTCTGTATCCAGGGCT -3'
Posted On 2019-05-13