Incidental Mutation 'R4193:Abcb1a'
ID 318397
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 041024-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R4193 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 8710077-8798575 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 8765068 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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 null
Transcript: ENSMUST00000047753
SMART Domains Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126846
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145232
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik G T 14: 35,818,536 (GRCm39) R178L possibly damaging Het
Acap3 A G 4: 155,986,234 (GRCm39) T285A probably benign Het
Adam20 A T 8: 41,248,352 (GRCm39) N154I probably damaging Het
Adamts8 A T 9: 30,870,604 (GRCm39) D693V probably damaging Het
Ak9 A G 10: 41,211,941 (GRCm39) H226R probably benign Het
Atp6v1b1 A G 6: 83,720,085 (GRCm39) S7G probably benign Het
Atxn7l3b C A 10: 112,764,610 (GRCm39) L6F probably damaging Het
Bco1 C T 8: 117,840,208 (GRCm39) T242M probably damaging Het
Btla A G 16: 45,070,845 (GRCm39) N268S probably benign Het
Capn9 A G 8: 125,327,225 (GRCm39) S292G probably null Het
Cdhr18 C T 14: 13,914,416 (GRCm38) V9I probably benign Het
Col7a1 G A 9: 108,785,740 (GRCm39) S403N unknown Het
Ctps1 A G 4: 120,405,335 (GRCm39) V369A probably damaging Het
Ddx19b A T 8: 111,737,980 (GRCm39) L256Q probably damaging Het
Dnah7a T C 1: 53,486,493 (GRCm39) K3356R probably benign Het
Dpf2 G A 19: 5,957,044 (GRCm39) R60* probably null Het
Eif3h A T 15: 51,662,695 (GRCm39) V117E probably damaging Het
Fam234a A T 17: 26,432,834 (GRCm39) L467Q probably damaging Het
Fez1 T A 9: 36,755,023 (GRCm39) S7R probably damaging Het
Fh1 T A 1: 175,442,407 (GRCm39) M148L possibly damaging Het
Gabra2 G A 5: 71,165,341 (GRCm39) P210S probably benign Het
Gfm1 T G 3: 67,339,053 (GRCm39) I52S probably damaging Het
Gm6729 A T 10: 86,376,483 (GRCm39) noncoding transcript Het
Gpr152 T G 19: 4,192,906 (GRCm39) L149R probably damaging Het
H2bc27 T A 11: 58,840,067 (GRCm39) L101Q probably damaging Het
Ifnar2 A T 16: 91,201,232 (GRCm39) D491V probably damaging Het
Igkv14-126 T C 6: 67,873,367 (GRCm39) S32P possibly damaging Het
Il1rl2 A G 1: 40,404,208 (GRCm39) E443G probably damaging Het
Impg2 A G 16: 56,088,774 (GRCm39) D1100G probably benign Het
Itga2 G A 13: 115,023,185 (GRCm39) R56* probably null Het
Itga2b A G 11: 102,360,511 (GRCm39) S10P probably benign Het
Jmjd1c C T 10: 66,932,460 (GRCm39) probably benign Het
Kdm7a T G 6: 39,146,030 (GRCm39) K299T probably damaging Het
Large2 T A 2: 92,195,704 (GRCm39) D632V probably damaging Het
Lrp2 C T 2: 69,297,487 (GRCm39) C3158Y probably damaging Het
Malt1 T A 18: 65,580,746 (GRCm39) D213E probably benign Het
Nkapl T C 13: 21,651,512 (GRCm39) Q367R probably benign Het
Nwd2 T C 5: 63,964,808 (GRCm39) L1464P probably damaging Het
Or1e25 C G 11: 73,494,243 (GRCm39) T279R probably damaging Het
Or2y1 A C 11: 49,386,134 (GRCm39) Y258S probably damaging Het
Or7a40 A T 16: 16,491,511 (GRCm39) D111E possibly damaging Het
Or8u10 T A 2: 85,916,044 (GRCm39) I26F probably benign Het
Or9g20 C T 2: 85,630,362 (GRCm39) C84Y probably benign Het
P2ry2 A G 7: 100,647,657 (GRCm39) V216A probably benign Het
Pcdhb1 A G 18: 37,400,199 (GRCm39) K717E probably damaging Het
Pcdhgb8 G C 18: 37,896,594 (GRCm39) D555H probably damaging Het
Pcsk6 T C 7: 65,675,056 (GRCm39) S476P probably damaging Het
Phactr3 T A 2: 177,924,945 (GRCm39) H293Q probably damaging Het
Pias1 T C 9: 62,859,286 (GRCm39) D74G possibly damaging Het
Plekhg6 T C 6: 125,350,081 (GRCm39) T286A probably benign Het
Pramel23 A T 4: 143,424,903 (GRCm39) L180Q probably damaging Het
Prkag2 A C 5: 25,083,758 (GRCm39) M75R probably damaging Het
Prl7c1 T A 13: 27,960,261 (GRCm39) M94L probably benign Het
Prodh C T 16: 17,891,504 (GRCm39) V480I probably benign Het
Ptprn2 A G 12: 116,864,628 (GRCm39) I548V probably benign Het
Ptprr T C 10: 116,088,769 (GRCm39) W307R probably damaging Het
Rab29 T C 1: 131,797,700 (GRCm39) S52P possibly damaging Het
Ralgapa2 A G 2: 146,184,493 (GRCm39) F1505L probably damaging Het
Scn8a C T 15: 100,869,484 (GRCm39) A209V probably damaging Het
Senp2 G T 16: 21,865,417 (GRCm39) W580L probably damaging Het
Septin4 A T 11: 87,474,142 (GRCm39) probably null Het
Slc17a5 C A 9: 78,466,388 (GRCm39) V269L possibly damaging Het
Slc2a9 T C 5: 38,556,049 (GRCm39) N299S probably damaging Het
Slc41a2 T A 10: 83,137,085 (GRCm39) H274L probably damaging Het
Suco A T 1: 161,691,528 (GRCm39) D43E probably benign Het
Tacr2 T A 10: 62,088,958 (GRCm39) I121N probably damaging Het
Tanc2 G A 11: 105,804,888 (GRCm39) probably benign Het
Tbl1xr1 T C 3: 22,254,522 (GRCm39) F322L possibly damaging Het
Tdrd1 T A 19: 56,839,773 (GRCm39) L611* probably null Het
Tgfbr2 T C 9: 115,939,009 (GRCm39) T298A probably damaging Het
Tmprss12 T C 15: 100,187,185 (GRCm39) V217A probably damaging Het
Ttbk1 A T 17: 46,790,173 (GRCm39) C91S probably damaging Het
Vit A G 17: 78,894,255 (GRCm39) H219R probably benign Het
Vmn1r71 A T 7: 10,482,175 (GRCm39) I105K possibly damaging Het
Vmn2r57 A G 7: 41,077,663 (GRCm39) F168L probably benign Het
Zfp945 C T 17: 23,070,144 (GRCm39) probably benign 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
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
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'- TCCCAACATGTGACACAAGATG -3'
(R):5'- TCAACAGATGACAAGAATATTGACC -3'

Sequencing Primer
(F):5'- ATTTTAGACAGCAGGAAATGAAATTG -3'
(R):5'- ACACTCTGGAGAACAGGA -3'
Posted On 2015-06-10