Incidental Mutation 'R4935:Abcb1a'
ID 380294
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 042535-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R4935 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 8710077-8798575 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 8787773 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: ENSMUST00000138138
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199172
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 94.8%
  • 20x: 86.9%
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A730071L15Rik A G 11: 6,150,442 (GRCm39) *138W probably null Het
Acp6 T C 3: 97,079,060 (GRCm39) probably null Het
Adcyap1 A T 17: 93,511,541 (GRCm39) I172L probably benign Het
Adgrf1 A C 17: 43,606,130 (GRCm39) I85L probably benign Het
Afdn A T 17: 14,111,228 (GRCm39) T1604S probably benign Het
Angpt2 T C 8: 18,742,131 (GRCm39) Y475C probably damaging Het
Ank2 A G 3: 126,749,713 (GRCm39) S439P probably damaging Het
Ank3 T A 10: 69,812,033 (GRCm39) N366K probably damaging Het
Ankrd11 A G 8: 123,626,922 (GRCm39) S87P probably benign Het
Ano7 T A 1: 93,323,036 (GRCm39) S459T possibly damaging Het
Asxl3 G A 18: 22,656,369 (GRCm39) V1460M probably benign Het
Atg16l1 A C 1: 87,694,764 (GRCm39) N147T possibly damaging Het
Atp10a T C 7: 58,463,512 (GRCm39) V1015A probably damaging Het
Atxn7 T A 14: 14,100,401 (GRCm38) S696T probably benign Het
Babam1 C T 8: 71,852,446 (GRCm39) T184I probably benign Het
Blk A G 14: 63,618,711 (GRCm39) S175P possibly damaging Het
Col5a1 T A 2: 27,914,754 (GRCm39) F123L probably damaging Het
Csmd3 T C 15: 48,024,480 (GRCm39) Y496C probably damaging Het
Dnah3 A T 7: 119,615,700 (GRCm39) Y1676* probably null Het
Fdxacb1 T A 9: 50,683,243 (GRCm39) M402K probably benign Het
Frmd5 A G 2: 121,393,405 (GRCm39) V141A possibly damaging Het
Gapvd1 G A 2: 34,594,504 (GRCm39) R685* probably null Het
Grik2 A G 10: 49,116,826 (GRCm39) L645P probably damaging Het
H2aj T A 6: 136,785,681 (GRCm39) V115E possibly damaging Het
Hrh3 T C 2: 179,743,061 (GRCm39) Y189C probably damaging Het
Kcnc2 A G 10: 112,108,133 (GRCm39) T175A probably benign Het
Kcnv2 A G 19: 27,300,332 (GRCm39) Y61C probably damaging Het
Kif24 T C 4: 41,394,939 (GRCm39) R645G probably damaging Het
Knl1 A G 2: 118,899,438 (GRCm39) I380V possibly damaging Het
Lamb2 A G 9: 108,364,700 (GRCm39) I1151M possibly damaging Het
Leo1 A G 9: 75,353,159 (GRCm39) D234G probably benign Het
Lrp1b T G 2: 41,388,405 (GRCm39) N407H probably benign Het
Matn2 T C 15: 34,428,831 (GRCm39) S732P probably damaging Het
Mrps30 A T 13: 118,523,431 (GRCm39) F114I possibly damaging Het
Or1l8 T C 2: 36,817,713 (GRCm39) N138D probably benign Het
Or4f17-ps1 G A 2: 111,357,793 (GRCm39) V45I probably damaging Het
Or5b123 T C 19: 13,597,066 (GRCm39) I180T probably benign Het
Oxr1 T C 15: 41,676,980 (GRCm39) V179A probably benign Het
Plaur A T 7: 24,166,141 (GRCm39) S71C possibly damaging Het
Plbd2 T C 5: 120,624,786 (GRCm39) N461D possibly damaging Het
Plcb2 T A 2: 118,549,396 (GRCm39) Y322F probably damaging Het
Prkab2 T C 3: 97,569,671 (GRCm39) V79A probably damaging Het
Ptpn3 A T 4: 57,197,568 (GRCm39) C774S probably damaging Het
Ring1 A C 17: 34,242,016 (GRCm39) L131R probably benign Het
Rxfp2 G A 5: 149,975,097 (GRCm39) probably null Het
Selenbp1 A T 3: 94,845,269 (GRCm39) I122F probably benign Het
Septin7 A G 9: 25,217,468 (GRCm39) H394R probably benign Het
Slc1a7 G A 4: 107,864,758 (GRCm39) V266I probably damaging Het
Slc2a10 A G 2: 165,359,578 (GRCm39) T481A probably benign Het
Spmap2l T C 5: 77,185,200 (GRCm39) probably null Het
Tapbp A G 17: 34,144,596 (GRCm39) M231V probably benign Het
Tbxas1 A T 6: 38,999,981 (GRCm39) N256I probably benign Het
Uimc1 A G 13: 55,240,998 (GRCm39) I30T probably damaging Het
Usp48 C A 4: 137,377,669 (GRCm39) N231K probably benign Het
Zfhx3 T G 8: 109,674,482 (GRCm39) V1844G possibly damaging Het
Znrf3 A T 11: 5,233,422 (GRCm39) C212S 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
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'- GCCACATTGTTAACGTTGTAGC -3'
(R):5'- GTCAATAGTCATATCTCCCTGTAACTG -3'

Sequencing Primer
(F):5'- ACGTTGTAGCTATCACACACTG -3'
(R):5'- TCTCCCTGTAACTGTTTTATGAAAG -3'
Posted On 2016-04-15