Incidental Mutation 'R6798:Abcb1a'
ID 533102
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 044911-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.193) question?
Stock # R6798 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 8710077-8798575 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8782364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 916 (Y916H)
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 damaging
Transcript: ENSMUST00000047753
AA Change: Y916H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: Y916H

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.4%
Validation Efficiency 97% (73/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,667,834 (GRCm39) I740V probably damaging Het
Adam22 A T 5: 8,210,784 (GRCm39) D161E probably damaging Het
Agap3 A G 5: 24,703,280 (GRCm39) probably null Het
Ank2 T C 3: 126,737,913 (GRCm39) probably benign Het
Aspm T A 1: 139,396,423 (GRCm39) H867Q possibly damaging Het
Aurkaip1 T C 4: 155,917,196 (GRCm39) probably null Het
BC048507 A C 13: 68,011,683 (GRCm39) D20A probably benign Het
Cacna1a G A 8: 85,338,231 (GRCm39) A1704T probably damaging Het
Cep152 A C 2: 125,408,447 (GRCm39) probably null Het
Cep19 T C 16: 31,922,867 (GRCm39) probably null Het
Cfhr4 T C 1: 139,625,859 (GRCm39) T813A probably benign Het
Chd9 A T 8: 91,778,182 (GRCm39) E2731V possibly damaging Het
Chrd T C 16: 20,553,056 (GRCm39) L139P probably damaging Het
Cit A G 5: 116,064,585 (GRCm39) E489G possibly damaging Het
Clcn7 A G 17: 25,378,734 (GRCm39) N720D probably damaging Het
Col6a3 T C 1: 90,722,731 (GRCm39) probably null Het
Dchs2 T A 3: 83,255,593 (GRCm39) Y2430N probably damaging Het
Dpy30 A G 17: 74,614,751 (GRCm39) I64T probably damaging Het
Eif2b3 G T 4: 116,923,655 (GRCm39) W290L probably benign Het
Epha6 T G 16: 60,425,427 (GRCm39) E62A possibly damaging Het
Epha6 C T 16: 60,425,428 (GRCm39) E62K possibly damaging Het
Epha8 C T 4: 136,672,980 (GRCm39) R268Q probably benign Het
Fbxw17 C A 13: 50,587,300 (GRCm39) probably null Het
Fndc8 C T 11: 82,783,217 (GRCm39) T66I probably benign Het
Frmpd1 A G 4: 45,284,850 (GRCm39) T1224A probably benign Het
Gcm2 T C 13: 41,259,361 (GRCm39) D36G probably damaging Het
Glt28d2 T C 3: 85,779,296 (GRCm39) D59G probably benign Het
Gorasp1 T C 9: 119,758,663 (GRCm39) D243G probably benign Het
Gtsf1l T C 2: 162,929,391 (GRCm39) K31E probably benign Het
Heatr5a A G 12: 51,928,048 (GRCm39) V1816A probably benign Het
Il10ra T C 9: 45,167,730 (GRCm39) K274E probably damaging Het
Il1rl2 T C 1: 40,404,400 (GRCm39) I507T probably damaging Het
Jak3 T G 8: 72,133,615 (GRCm39) F408V probably damaging Het
Kdm1b A G 13: 47,222,012 (GRCm39) T484A probably benign Het
Lama5 G A 2: 179,833,455 (GRCm39) P1519L probably damaging Het
Map9 T G 3: 82,287,471 (GRCm39) L31W probably damaging Het
Mical2 T C 7: 111,975,266 (GRCm39) probably benign Het
Mt1 A G 8: 94,906,516 (GRCm39) probably benign Het
Myo18b T C 5: 112,909,252 (GRCm39) I1964V probably damaging Het
Nalf1 G A 8: 9,820,205 (GRCm39) Q272* probably null Het
Nod1 A T 6: 54,921,596 (GRCm39) C241S probably damaging Het
Nrxn1 T A 17: 90,937,378 (GRCm39) D685V probably damaging Het
Oog1 A T 12: 87,655,609 (GRCm39) probably null Het
Or11a4 T G 17: 37,536,697 (GRCm39) L227R probably damaging Het
Or2ag13 T C 7: 106,313,402 (GRCm39) Y162C probably damaging Het
Or4k2 A G 14: 50,424,584 (GRCm39) V30A probably benign Het
Or56b1b T A 7: 108,164,967 (GRCm39) K12* probably null Het
P4htm T A 9: 108,460,117 (GRCm39) N219I possibly damaging Het
Pcif1 T C 2: 164,727,711 (GRCm39) L168P possibly damaging Het
Pde4dip A G 3: 97,795,850 (GRCm39) V46A probably benign Het
Pias1 T C 9: 62,799,451 (GRCm39) T480A probably benign Het
Prkd2 A T 7: 16,583,128 (GRCm39) K297* probably null Het
Prl7d1 T A 13: 27,893,380 (GRCm39) probably null Het
Pxdc1 G T 13: 34,836,408 (GRCm39) A4E possibly damaging Het
Rcor1 A G 12: 111,006,320 (GRCm39) probably benign Het
Rev3l A T 10: 39,730,759 (GRCm39) D2761V probably damaging Het
Scgb1b7 A G 7: 31,412,406 (GRCm39) T61A probably damaging Het
Sec14l2 A G 11: 4,061,213 (GRCm39) Y83H probably damaging Het
Setd4 C A 16: 93,386,841 (GRCm39) V286F probably damaging Het
Slc22a29 A G 19: 8,137,968 (GRCm39) S536P probably benign Het
Snx25 T C 8: 46,486,810 (GRCm39) H977R probably damaging Het
Spint5 T A 2: 164,559,060 (GRCm39) C95* probably null Het
Sprr5 G C 3: 92,440,243 (GRCm39) C65W unknown Het
Srgap1 T C 10: 121,761,809 (GRCm39) D113G probably damaging Het
Stxbp2 T A 8: 3,691,180 (GRCm39) S476T probably benign Het
Tg A G 15: 66,550,688 (GRCm39) T273A probably damaging Het
Tnc C T 4: 63,883,841 (GRCm39) R1868H probably benign Het
Trappc10 A G 10: 78,024,665 (GRCm39) Y1155H probably benign Het
Trpm2 T A 10: 77,750,574 (GRCm39) N1341Y probably damaging Het
Vmn2r111 T C 17: 22,778,032 (GRCm39) N549S possibly damaging Het
Zfand1 T G 3: 10,411,236 (GRCm39) K67T probably benign Het
Zfand4 A C 6: 116,305,214 (GRCm39) K214Q probably benign Het
Zfp653 A T 9: 21,968,668 (GRCm39) V465E probably damaging Het
Zswim8 A G 14: 20,766,060 (GRCm39) Y782C 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
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
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'- ATCATGACTTTGTGTCCCAGC -3'
(R):5'- GCTTCTGACTAAACTCAGGTCTC -3'

Sequencing Primer
(F):5'- CTCTTTCTGTCTAGAATGCAAGAC -3'
(R):5'- TCAGGTCTCTTCATTTATCTCTTGG -3'
Posted On 2018-08-29