Incidental Mutation 'R9617:Abcb1a'
ID 726509
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R9617 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 8710077-8798575 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 8797353 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110032F04Rik C T 3: 68,777,402 (GRCm39) P121L probably damaging Het
4930442H23Rik C T 10: 81,018,976 (GRCm39) V16I unknown Het
4930444P10Rik T C 1: 16,139,051 (GRCm39) M97V probably benign Het
Abhd5 T C 9: 122,197,035 (GRCm39) I74T probably benign Het
Ankle2 T A 5: 110,399,409 (GRCm39) F590I probably damaging Het
C2cd6 T C 1: 59,097,848 (GRCm39) S414G probably benign Het
Catsperd G A 17: 56,968,252 (GRCm39) D546N probably benign Het
Cep295nl G T 11: 118,224,000 (GRCm39) H281Q possibly damaging Het
Cfap69 T C 5: 5,639,164 (GRCm39) E670G probably damaging Het
Cfh A T 1: 140,090,718 (GRCm39) V90E possibly damaging Het
Cnksr3 A C 10: 7,079,021 (GRCm39) probably null Het
Cntrl T A 2: 35,035,077 (GRCm39) F901L probably benign Het
Coch T A 12: 51,645,034 (GRCm39) M196K probably damaging Het
Crygd T C 1: 65,102,369 (GRCm39) N34S probably damaging Het
Ctdp1 A T 18: 80,492,962 (GRCm39) I511N probably benign Het
Dhx30 C T 9: 109,926,186 (GRCm39) A142T probably damaging Het
Dlg2 T C 7: 92,087,284 (GRCm39) probably null Het
Dmxl1 A G 18: 49,998,228 (GRCm39) D776G probably damaging Het
Dnm3 C T 1: 162,149,354 (GRCm39) G197D probably damaging Het
Eif4g3 A G 4: 137,824,190 (GRCm39) H91R probably damaging Het
Ephb6 A G 6: 41,596,258 (GRCm39) M844V probably damaging Het
Erc1 T C 6: 119,773,902 (GRCm39) E351G probably benign Het
Etfbkmt G A 6: 149,045,744 (GRCm39) G33R probably benign Het
Fnbp4 T C 2: 90,588,738 (GRCm39) I503T probably benign Het
Gm6370 A T 5: 146,429,993 (GRCm39) Q143L probably benign Het
Gnas T C 2: 174,141,988 (GRCm39) V719A possibly damaging Het
H13 C A 2: 152,530,873 (GRCm39) D219E probably damaging Het
Hhatl G A 9: 121,618,191 (GRCm39) T188I possibly damaging Het
Ifi27l2b C T 12: 103,422,683 (GRCm39) A45T probably damaging Het
Kbtbd8 T C 6: 95,103,874 (GRCm39) C585R possibly damaging Het
Limk2 A G 11: 3,297,715 (GRCm39) S473P probably damaging Het
Lrba G A 3: 86,267,169 (GRCm39) G1620S probably benign Het
Lrrtm2 T C 18: 35,346,490 (GRCm39) T271A probably benign Het
Map3k4 A G 17: 12,476,871 (GRCm39) S759P possibly damaging Het
Mybphl G T 3: 108,282,952 (GRCm39) V247F possibly damaging Het
Myh10 T A 11: 68,682,815 (GRCm39) V1120D probably benign Het
Naip1 T C 13: 100,569,821 (GRCm39) N271S probably benign Het
Napepld C T 5: 21,875,561 (GRCm39) V328I probably damaging Het
Nucb1 A G 7: 45,148,159 (GRCm39) V218A probably benign Het
Nup107 A T 10: 117,593,238 (GRCm39) D813E probably benign Het
Or14j3 T A 17: 37,901,053 (GRCm39) K64* probably null Het
Or5g29 T A 2: 85,421,279 (GRCm39) Y132N probably damaging Het
Or6c35 A T 10: 129,168,794 (GRCm39) T15S probably damaging Het
Or8g52 A G 9: 39,630,678 (GRCm39) S52G possibly damaging Het
Pabpc2 T C 18: 39,907,602 (GRCm39) I289T probably benign Het
Parg A G 14: 31,960,569 (GRCm39) I600V probably benign Het
Patj T C 4: 98,393,991 (GRCm39) F975L probably benign Het
Pcdhb17 A G 18: 37,618,218 (GRCm39) T3A probably benign Het
Piezo2 T C 18: 63,248,108 (GRCm39) E464G probably benign Het
Pkd1 T A 17: 24,800,341 (GRCm39) V3034D probably damaging Het
Pld2 A G 11: 70,447,944 (GRCm39) E869G probably damaging Het
Plek T A 11: 16,945,311 (GRCm39) L29F possibly damaging Het
Prelp A G 1: 133,842,416 (GRCm39) L243P probably damaging Het
Rapgef5 T A 12: 117,621,930 (GRCm39) D231E probably benign Het
Riok1 A G 13: 38,244,016 (GRCm39) E514G probably benign Het
Rmdn2 T C 17: 79,928,790 (GRCm39) M14T probably benign Het
Rorb G A 19: 18,939,499 (GRCm39) Q228* probably null Het
Scmh1 T A 4: 120,340,827 (GRCm39) M171K probably damaging Het
Scn9a A G 2: 66,392,809 (GRCm39) L261P probably damaging Het
Senp7 A T 16: 55,971,652 (GRCm39) N263I probably benign Het
Slc11a1 G T 1: 74,419,041 (GRCm39) A162S probably benign Het
Slc6a17 A G 3: 107,384,685 (GRCm39) V305A probably damaging Het
Snph A T 2: 151,435,422 (GRCm39) V502E probably damaging Het
Sost G T 11: 101,854,892 (GRCm39) A139E possibly damaging Het
Srp54a A T 12: 55,136,061 (GRCm39) E25D probably benign Het
Tmeff1 T A 4: 48,636,940 (GRCm39) C213S probably damaging Het
Tmem232 A T 17: 65,807,180 (GRCm39) Y4* probably null Het
Tmem63c T G 12: 87,103,361 (GRCm39) I45S probably benign Het
Ttbk1 C T 17: 46,757,998 (GRCm39) G879S probably damaging Het
Ugt1a7c A G 1: 88,022,952 (GRCm39) H37R probably damaging Het
Vmn1r236 T C 17: 21,507,053 (GRCm39) L57P probably damaging Het
Wnk2 T A 13: 49,192,453 (GRCm39) E675V unknown Het
Wnt10b T C 15: 98,674,609 (GRCm39) T43A probably damaging Het
Wnt8a C A 18: 34,680,163 (GRCm39) T176K probably benign Het
Zfp937 T A 2: 150,080,452 (GRCm39) C161S 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
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
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'- TGGGTAGAGTGTACTTACTGCCC -3'
(R):5'- AGAAGTAGATGCCCTTCTGCG -3'

Sequencing Primer
(F):5'- GTAGAGTGTACTTACTGCCCTTAGC -3'
(R):5'- TGCCGTTCTGAATCACCA -3'
Posted On 2022-10-06