Incidental Mutation 'R7827:Abcb1b'
ID 602235
Institutional Source Beutler Lab
Gene Symbol Abcb1b
Ensembl Gene ENSMUSG00000028970
Gene Name ATP-binding cassette, sub-family B member 1B
Synonyms mdr, Pgy1, Mdr1b, Pgy-1, Mdr1, Abcb1
MMRRC Submission 045881-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # R7827 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 8848147-8916314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8887747 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 878 (S878P)
Ref Sequence ENSEMBL: ENSMUSP00000009058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009058] [ENSMUST00000199955]
AlphaFold P06795
Predicted Effect probably damaging
Transcript: ENSMUST00000009058
AA Change: S878P

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: S878P

DomainStartEndE-ValueType
low complexity region 16 30 N/A INTRINSIC
Pfam:ABC_membrane 50 342 1.4e-96 PFAM
AAA 418 610 4.32e-21 SMART
Pfam:ABC_membrane 709 984 1.9e-75 PFAM
AAA 1060 1248 4.13e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000199955
SMART Domains Protein: ENSMUSP00000143766
Gene: ENSMUSG00000028970

DomainStartEndE-ValueType
PDB:4M2T|B 1 78 2e-26 PDB
Blast:AAA 33 78 2e-11 BLAST
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. This gene encodes a membrane glycoprotein which confers a multidrug-resistance phenotype. The protein encoded by the human gene is an ATP-dependent drug efflux pump for xenobiotic compounds which is responsible for decreased drug accumulation in multidrug-resistant cells and mediates the development of resistance to anticancer drugs. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are hypersensitive to effects of drugs transported by phosphoglycoproteins. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Targeted, knock-out(2) Gene trapped(8)

Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 A G 3: 59,651,112 (GRCm39) N78S probably damaging Het
Abca12 G A 1: 71,453,837 (GRCm39) probably benign Het
Adamts20 T C 15: 94,223,814 (GRCm39) R1305G probably damaging Het
Adcy2 A T 13: 68,837,400 (GRCm39) C650S probably damaging Het
Ahnak A T 19: 8,982,708 (GRCm39) K1331* probably null Het
Alpk1 A T 3: 127,473,700 (GRCm39) S768T probably benign Het
Ap4b1 T G 3: 103,722,398 (GRCm39) L124R probably damaging Het
Arrdc2 A T 8: 71,292,038 (GRCm39) F3Y probably damaging Het
Atp9a A G 2: 168,547,114 (GRCm39) V155A probably benign Het
Bptf A G 11: 106,938,013 (GRCm39) S87P probably benign Het
Carmil1 A T 13: 24,220,421 (GRCm39) M697K probably benign Het
Ccdc42 G A 11: 68,485,022 (GRCm39) V32M probably benign Het
Cert1 A G 13: 96,753,563 (GRCm39) H391R probably damaging Het
Ces1d A G 8: 93,924,294 (GRCm39) probably null Het
Dcpp2 T G 17: 24,119,566 (GRCm39) Y127D probably damaging Het
Def8 C A 8: 124,174,060 (GRCm39) T7K probably benign Het
Dnah8 CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT 17: 30,979,841 (GRCm39) probably null Het
En2 G A 5: 28,371,594 (GRCm39) G24S probably benign Het
Evi2a T C 11: 79,418,688 (GRCm39) probably benign Het
Fam117b A T 1: 59,952,837 (GRCm39) H172L possibly damaging Het
Fam169b A G 7: 67,954,338 (GRCm39) I67M probably benign Het
Fbxo40 T A 16: 36,789,861 (GRCm39) E416D probably damaging Het
Gja8 T A 3: 96,827,635 (GRCm39) N9I possibly damaging Het
Gsg1l2 T A 11: 67,676,097 (GRCm39) C154S probably benign Het
Hdhd3 C A 4: 62,418,232 (GRCm39) probably benign Het
Hunk C T 16: 90,278,214 (GRCm39) P341L possibly damaging Het
Ighv8-5 T C 12: 115,031,258 (GRCm39) T94A possibly damaging Het
Ints3 T C 3: 90,331,319 (GRCm39) N75D probably benign Het
Krt39 T C 11: 99,409,901 (GRCm39) E212G probably damaging Het
Ldlrad4 A G 18: 68,387,495 (GRCm39) H269R probably damaging Het
Lrrc2 T A 9: 110,790,049 (GRCm39) V102E possibly damaging Het
Ltbp2 T A 12: 84,836,655 (GRCm39) I1292L probably benign Het
Mad2l1bp A T 17: 46,458,993 (GRCm39) V179E possibly damaging Het
Map3k1 A G 13: 111,892,663 (GRCm39) V864A probably benign Het
Mapk8ip2 T G 15: 89,342,322 (GRCm39) V511G probably damaging Het
Mknk2 A C 10: 80,503,021 (GRCm39) S434A probably benign Het
Mllt11 A G 3: 95,127,548 (GRCm39) F74S probably damaging Het
Muc16 G T 9: 18,506,519 (GRCm39) T6412K possibly damaging Het
Nek5 C A 8: 22,573,403 (GRCm39) A518S possibly damaging Het
Npy1r T C 8: 67,156,864 (GRCm39) F95L possibly damaging Het
Nup98 G A 7: 101,773,569 (GRCm39) T1586I probably benign Het
Olig3 A T 10: 19,232,518 (GRCm39) M48L probably benign Het
Or13n4 A G 7: 106,422,932 (GRCm39) M267T probably benign Het
Or14j7 T A 17: 38,234,568 (GRCm39) L37* probably null Het
Or5b120 T G 19: 13,480,587 (GRCm39) N293K probably damaging Het
Or6aa1 T A 7: 86,043,765 (GRCm39) K314* probably null Het
Pcdhb16 A G 18: 37,611,904 (GRCm39) D288G possibly damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Phip T C 9: 82,790,886 (GRCm39) I687V probably benign Het
Piezo1 G A 8: 123,209,659 (GRCm39) T2348M probably damaging Het
Plod3 A G 5: 137,018,835 (GRCm39) T291A probably benign Het
Pmpca G A 2: 26,280,144 (GRCm39) V89I possibly damaging Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Pou6f2 C A 13: 18,553,092 (GRCm39) A81S Het
Ppl T A 16: 4,905,828 (GRCm39) E1489V probably damaging Het
Ptpdc1 A G 13: 48,733,264 (GRCm39) F792S probably damaging Het
Pus1 A G 5: 110,927,582 (GRCm39) Y58H probably damaging Het
Rex2 C A 4: 147,142,547 (GRCm39) T345N possibly damaging Het
Rnf144a T C 12: 26,389,439 (GRCm39) M1V probably null Het
Siglec15 A T 18: 78,100,445 (GRCm39) C13* probably null Het
Skint10 G A 4: 112,632,003 (GRCm39) Q6* probably null Het
Slc5a1 T C 5: 33,304,057 (GRCm39) W291R probably damaging Het
Snx27 A G 3: 94,426,366 (GRCm39) F378L probably benign Het
Strip2 A T 6: 29,923,928 (GRCm39) T81S probably benign Het
Tas2r143 A G 6: 42,377,656 (GRCm39) N162S probably damaging Het
Tatdn1 T C 15: 58,776,607 (GRCm39) D256G probably benign Het
Tbc1d5 A G 17: 51,089,291 (GRCm39) S630P probably damaging Het
Tlr11 A G 14: 50,598,611 (GRCm39) D199G probably benign Het
Tmed8 C A 12: 87,246,991 (GRCm39) probably benign Het
Ttll3 CAAAGTAA CAAAGTAAAGTAA 6: 113,376,118 (GRCm39) probably null Het
Ttll3 TAA TAAAGCAA 6: 113,376,123 (GRCm39) probably null Het
U2af2 T C 7: 5,077,661 (GRCm39) probably null Het
Ywhag C T 5: 135,940,394 (GRCm39) E67K probably damaging Het
Zfp105 A G 9: 122,759,808 (GRCm39) H493R probably damaging Het
Zfp426 A T 9: 20,381,446 (GRCm39) C514S probably damaging Het
Zfp536 T A 7: 37,269,113 (GRCm39) D101V probably damaging Het
Other mutations in Abcb1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Abcb1b APN 5 8,877,704 (GRCm39) missense probably benign 0.34
IGL00979:Abcb1b APN 5 8,875,293 (GRCm39) splice site probably benign
IGL02157:Abcb1b APN 5 8,855,487 (GRCm39) splice site probably benign
IGL02478:Abcb1b APN 5 8,856,018 (GRCm39) missense probably damaging 0.98
IGL03174:Abcb1b APN 5 8,877,752 (GRCm39) missense probably benign 0.03
IGL03189:Abcb1b APN 5 8,895,814 (GRCm39) missense probably benign
IGL03195:Abcb1b APN 5 8,903,607 (GRCm39) missense possibly damaging 0.83
PIT4283001:Abcb1b UTSW 5 8,863,693 (GRCm39) missense probably damaging 1.00
R0049:Abcb1b UTSW 5 8,875,661 (GRCm39) missense probably damaging 1.00
R0166:Abcb1b UTSW 5 8,903,468 (GRCm39) missense probably damaging 1.00
R0254:Abcb1b UTSW 5 8,877,409 (GRCm39) missense probably benign
R0319:Abcb1b UTSW 5 8,877,428 (GRCm39) missense probably benign 0.01
R0358:Abcb1b UTSW 5 8,871,423 (GRCm39) missense probably benign 0.16
R0365:Abcb1b UTSW 5 8,856,009 (GRCm39) missense probably damaging 1.00
R0408:Abcb1b UTSW 5 8,903,446 (GRCm39) missense probably damaging 0.98
R0521:Abcb1b UTSW 5 8,914,238 (GRCm39) missense probably damaging 1.00
R0533:Abcb1b UTSW 5 8,914,113 (GRCm39) critical splice acceptor site probably null
R0847:Abcb1b UTSW 5 8,895,764 (GRCm39) missense probably damaging 0.99
R1037:Abcb1b UTSW 5 8,875,657 (GRCm39) missense probably benign 0.03
R1432:Abcb1b UTSW 5 8,887,771 (GRCm39) missense possibly damaging 0.69
R1437:Abcb1b UTSW 5 8,871,436 (GRCm39) missense possibly damaging 0.90
R1520:Abcb1b UTSW 5 8,864,768 (GRCm39) missense probably damaging 1.00
R1686:Abcb1b UTSW 5 8,848,782 (GRCm39) missense probably damaging 0.97
R1700:Abcb1b UTSW 5 8,899,537 (GRCm39) missense probably benign 0.44
R1973:Abcb1b UTSW 5 8,862,746 (GRCm39) missense probably benign 0.01
R1993:Abcb1b UTSW 5 8,871,322 (GRCm39) missense possibly damaging 0.61
R2157:Abcb1b UTSW 5 8,874,791 (GRCm39) missense probably benign 0.37
R2207:Abcb1b UTSW 5 8,874,803 (GRCm39) missense probably benign 0.23
R2968:Abcb1b UTSW 5 8,911,485 (GRCm39) missense probably damaging 1.00
R3858:Abcb1b UTSW 5 8,863,581 (GRCm39) missense probably benign 0.11
R4223:Abcb1b UTSW 5 8,863,722 (GRCm39) missense probably damaging 0.97
R4379:Abcb1b UTSW 5 8,915,875 (GRCm39) missense probably benign 0.00
R4674:Abcb1b UTSW 5 8,860,615 (GRCm39) missense probably benign
R4964:Abcb1b UTSW 5 8,911,602 (GRCm39) missense probably damaging 1.00
R4964:Abcb1b UTSW 5 8,862,671 (GRCm39) missense probably benign 0.00
R5167:Abcb1b UTSW 5 8,862,656 (GRCm39) missense probably damaging 0.98
R5216:Abcb1b UTSW 5 8,863,705 (GRCm39) missense probably benign 0.04
R5328:Abcb1b UTSW 5 8,887,694 (GRCm39) missense possibly damaging 0.69
R5391:Abcb1b UTSW 5 8,855,481 (GRCm39) missense probably null 0.00
R5399:Abcb1b UTSW 5 8,877,410 (GRCm39) missense probably benign
R6047:Abcb1b UTSW 5 8,856,066 (GRCm39) missense probably damaging 1.00
R6157:Abcb1b UTSW 5 8,874,245 (GRCm39) missense possibly damaging 0.81
R6293:Abcb1b UTSW 5 8,903,493 (GRCm39) missense probably benign 0.05
R6493:Abcb1b UTSW 5 8,874,698 (GRCm39) missense probably damaging 1.00
R6593:Abcb1b UTSW 5 8,903,491 (GRCm39) missense probably benign
R6799:Abcb1b UTSW 5 8,862,656 (GRCm39) missense probably damaging 0.98
R6944:Abcb1b UTSW 5 8,863,693 (GRCm39) missense probably damaging 1.00
R7028:Abcb1b UTSW 5 8,855,441 (GRCm39) missense probably damaging 0.99
R7227:Abcb1b UTSW 5 8,875,593 (GRCm39) missense probably damaging 1.00
R7495:Abcb1b UTSW 5 8,915,871 (GRCm39) missense probably damaging 1.00
R7573:Abcb1b UTSW 5 8,878,866 (GRCm39) missense possibly damaging 0.80
R7681:Abcb1b UTSW 5 8,899,619 (GRCm39) missense probably benign 0.00
R7860:Abcb1b UTSW 5 8,882,258 (GRCm39) missense probably benign 0.12
R7961:Abcb1b UTSW 5 8,878,870 (GRCm39) missense possibly damaging 0.65
R8009:Abcb1b UTSW 5 8,878,870 (GRCm39) missense possibly damaging 0.65
R8054:Abcb1b UTSW 5 8,874,272 (GRCm39) missense probably benign
R8226:Abcb1b UTSW 5 8,871,390 (GRCm39) missense probably damaging 1.00
R8283:Abcb1b UTSW 5 8,856,086 (GRCm39) missense probably damaging 1.00
R8286:Abcb1b UTSW 5 8,914,119 (GRCm39) missense probably damaging 1.00
R8362:Abcb1b UTSW 5 8,848,758 (GRCm39) missense probably benign 0.00
R8387:Abcb1b UTSW 5 8,874,698 (GRCm39) missense probably damaging 1.00
R8426:Abcb1b UTSW 5 8,911,632 (GRCm39) critical splice donor site probably null
R8495:Abcb1b UTSW 5 8,915,865 (GRCm39) missense probably damaging 0.99
R8715:Abcb1b UTSW 5 8,862,750 (GRCm39) missense probably benign
R8874:Abcb1b UTSW 5 8,875,671 (GRCm39) missense possibly damaging 0.95
R9236:Abcb1b UTSW 5 8,874,893 (GRCm39) critical splice donor site probably null
R9292:Abcb1b UTSW 5 8,862,843 (GRCm39) missense probably benign 0.20
R9300:Abcb1b UTSW 5 8,875,614 (GRCm39) missense probably benign 0.00
R9387:Abcb1b UTSW 5 8,875,614 (GRCm39) missense probably benign 0.00
R9389:Abcb1b UTSW 5 8,875,614 (GRCm39) missense probably benign 0.00
R9616:Abcb1b UTSW 5 8,862,779 (GRCm39) missense probably benign 0.02
R9694:Abcb1b UTSW 5 8,899,573 (GRCm39) missense probably damaging 0.99
X0025:Abcb1b UTSW 5 8,874,515 (GRCm39) missense possibly damaging 0.91
X0061:Abcb1b UTSW 5 8,914,269 (GRCm39) splice site probably null
Z1176:Abcb1b UTSW 5 8,877,441 (GRCm39) missense probably benign
Z1177:Abcb1b UTSW 5 8,887,596 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GGATGAAAGTAAATAGCCCCAATTC -3'
(R):5'- ATTGTTTGAAGGCCCTCCCC -3'

Sequencing Primer
(F):5'- GTAAATAGCCCCAATTCATAAACATG -3'
(R):5'- CCCCAGAGCAGACAGGGAATTG -3'
Posted On 2019-12-03