Incidental Mutation 'R0254:Abcb1b'
ID 34538
Institutional Source Beutler Lab
Gene Symbol Abcb1b
Ensembl Gene ENSMUSG00000028970
Gene Name ATP-binding cassette, sub-family B (MDR/TAP), member 1B
Synonyms Pgy-1, Abcb1, Mdr1, mdr, Pgy1, Mdr1b
MMRRC Submission 038485-MU
Accession Numbers

Genbank: NM_011075; MGI: 97568  

Essential gene? Possibly non essential (E-score: 0.428) question?
Stock # R0254 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 8798147-8866315 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8827409 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 656 (E656D)
Ref Sequence ENSEMBL: ENSMUSP00000009058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009058] [ENSMUST00000199955]
AlphaFold P06795
Predicted Effect probably benign
Transcript: ENSMUST00000009058
AA Change: E656D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: E656D

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 noncoding transcript
Transcript: ENSMUST00000197499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199546
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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 100% (100/100)
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: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034J05Rik T A 6: 146,952,404 (GRCm38) M252L probably benign Het
Abca6 A G 11: 110,236,789 (GRCm38) V314A probably benign Het
Abhd4 T C 14: 54,263,234 (GRCm38) I160T probably benign Het
Aco2 T C 15: 81,889,356 (GRCm38) V32A probably damaging Het
Actl6b A G 5: 137,554,144 (GRCm38) probably benign Het
Akap13 T C 7: 75,736,604 (GRCm38) probably benign Het
Alpk3 A T 7: 81,076,974 (GRCm38) T136S probably benign Het
Ap1g1 G T 8: 109,803,117 (GRCm38) M56I probably benign Het
Arid2 C T 15: 96,370,571 (GRCm38) T855I probably damaging Het
Asprv1 T C 6: 86,629,095 (GRCm38) F308L probably damaging Het
Ass1 A T 2: 31,514,819 (GRCm38) N371Y probably damaging Het
Atp11b T A 3: 35,812,110 (GRCm38) M378K possibly damaging Het
Atp1a3 T C 7: 24,981,512 (GRCm38) probably benign Het
Blk C A 14: 63,380,804 (GRCm38) A218S probably benign Het
C4b T A 17: 34,734,776 (GRCm38) T953S probably benign Het
Cdadc1 T C 14: 59,575,907 (GRCm38) probably benign Het
Cdca2 C A 14: 67,677,178 (GRCm38) L877F probably damaging Het
Ceacam10 G T 7: 24,778,308 (GRCm38) V83L probably damaging Het
Cep290 A T 10: 100,514,574 (GRCm38) I677F probably benign Het
Clip1 A T 5: 123,617,332 (GRCm38) probably benign Het
Col11a2 G T 17: 34,064,803 (GRCm38) probably benign Het
Coro1c A T 5: 113,845,252 (GRCm38) V405D probably benign Het
Crebrf A G 17: 26,739,594 (GRCm38) T13A probably benign Het
Cspg4 A G 9: 56,897,410 (GRCm38) E1835G probably damaging Het
Cubn T C 2: 13,424,694 (GRCm38) N1332S probably benign Het
Cubn T C 2: 13,440,514 (GRCm38) T1014A possibly damaging Het
Cubn A T 2: 13,476,035 (GRCm38) probably null Het
Efnb1 T C X: 99,137,028 (GRCm38) probably benign Het
Elf2 G T 3: 51,308,190 (GRCm38) P33Q probably damaging Het
Fap C T 2: 62,503,402 (GRCm38) G633D probably damaging Het
Gm10288 T C 3: 146,838,920 (GRCm38) noncoding transcript Het
Gm14139 G A 2: 150,191,864 (GRCm38) R35K possibly damaging Het
Gm7714 A T 5: 88,282,371 (GRCm38) H42L possibly damaging Het
Got2 T C 8: 95,869,538 (GRCm38) N318S probably benign Het
Guk1 A T 11: 59,186,028 (GRCm38) F76L probably damaging Het
H2-K1 A T 17: 33,996,665 (GRCm38) probably benign Het
Helz2 C A 2: 181,232,759 (GRCm38) G1981C probably damaging Het
Hinfp G A 9: 44,298,239 (GRCm38) H250Y probably damaging Het
Hnrnpm C T 17: 33,652,268 (GRCm38) probably null Het
Hsd11b2 T A 8: 105,523,067 (GRCm38) V270E possibly damaging Het
Igbp1b A T 6: 138,658,203 (GRCm38) M81K probably damaging Het
Kif11 A G 19: 37,411,509 (GRCm38) T815A probably benign Het
Kit G A 5: 75,620,921 (GRCm38) V337I probably benign Het
Klf11 T C 12: 24,653,583 (GRCm38) S6P probably damaging Het
Klk13 T C 7: 43,723,821 (GRCm38) V193A probably benign Het
Krt73 T A 15: 101,799,889 (GRCm38) probably benign Het
L1td1 T A 4: 98,737,182 (GRCm38) L538* probably null Het
Macf1 A G 4: 123,432,779 (GRCm38) L2061P probably damaging Het
Mcm2 A G 6: 88,884,016 (GRCm38) I900T probably damaging Het
Med16 A T 10: 79,900,200 (GRCm38) N371K possibly damaging Het
Mepce A C 5: 137,785,436 (GRCm38) D209E possibly damaging Het
Mrc2 C G 11: 105,347,866 (GRCm38) P1249R probably benign Het
Mx2 A T 16: 97,556,095 (GRCm38) I463L probably benign Het
Naaa A T 5: 92,265,135 (GRCm38) N73K probably damaging Het
Nags T A 11: 102,147,945 (GRCm38) L404Q probably damaging Het
Neb A G 2: 52,243,390 (GRCm38) Y3379H probably damaging Het
Nhsl1 A G 10: 18,472,985 (GRCm38) E120G probably damaging Het
Olfr1276 A C 2: 111,257,121 (GRCm38) N2T probably benign Het
Olfr561 C A 7: 102,774,869 (GRCm38) S115* probably null Het
Olfr615 T A 7: 103,560,622 (GRCm38) Y48* probably null Het
Olfr643 T C 7: 104,059,521 (GRCm38) H27R probably benign Het
Olfr736 T C 14: 50,393,079 (GRCm38) S108P probably damaging Het
Pcnt A G 10: 76,392,580 (GRCm38) F1584L probably benign Het
Pdgfra G A 5: 75,167,935 (GRCm38) V243I probably damaging Het
Polr2a T C 11: 69,743,671 (GRCm38) I689V possibly damaging Het
Ppfia4 C A 1: 134,324,224 (GRCm38) probably benign Het
Prmt8 C A 6: 127,711,808 (GRCm38) V200L probably damaging Het
Prpf8 T A 11: 75,506,362 (GRCm38) I2007N possibly damaging Het
Ptpn6 T C 6: 124,728,150 (GRCm38) E230G probably damaging Het
R3hcc1l G A 19: 42,563,148 (GRCm38) V195I probably damaging Het
Rb1cc1 C T 1: 6,262,847 (GRCm38) T1330I probably damaging Het
Reep3 G T 10: 67,021,796 (GRCm38) T172N probably benign Het
Rfwd3 A G 8: 111,294,023 (GRCm38) V236A probably benign Het
Rgs22 T C 15: 36,104,552 (GRCm38) I121V probably damaging Het
Robo1 T A 16: 72,664,170 (GRCm38) F11I probably benign Het
Rsrc2 A G 5: 123,740,847 (GRCm38) probably benign Het
Rubcn A G 16: 32,847,946 (GRCm38) V117A probably benign Het
Scamp1 T G 13: 94,210,580 (GRCm38) N192T probably benign Het
Scn8a T A 15: 101,018,364 (GRCm38) I1218N probably damaging Het
Serinc1 A G 10: 57,523,208 (GRCm38) S200P probably damaging Het
Serpinb9f T A 13: 33,334,591 (GRCm38) F358Y probably damaging Het
Slc12a5 T C 2: 164,997,245 (GRCm38) probably null Het
Slc5a4b T C 10: 76,070,628 (GRCm38) M386V possibly damaging Het
Smarca5 A G 8: 80,704,700 (GRCm38) F963L probably benign Het
Smchd1 A T 17: 71,411,891 (GRCm38) F828I probably benign Het
Stab2 G T 10: 86,897,960 (GRCm38) Q1333K probably benign Het
Svop T C 5: 114,038,539 (GRCm38) S349G probably benign Het
Tdrd1 G A 19: 56,842,566 (GRCm38) S271N probably benign Het
Tec G A 5: 72,783,738 (GRCm38) P159S probably benign Het
Tec T C 5: 72,763,556 (GRCm38) probably benign Het
Tfip11 G A 5: 112,335,655 (GRCm38) M645I probably benign Het
Thap12 A T 7: 98,715,281 (GRCm38) T219S probably benign Het
Tmem87a C T 2: 120,375,507 (GRCm38) R329H probably damaging Het
Tpsab1 A G 17: 25,343,745 (GRCm38) Y227H probably damaging Het
Urah G A 7: 140,837,689 (GRCm38) V114I probably benign Het
Wnt5a G A 14: 28,522,854 (GRCm38) E353K probably damaging Het
Zfp101 A T 17: 33,380,978 (GRCm38) H601Q possibly damaging Het
Other mutations in Abcb1b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00573:Abcb1b APN 5 8,827,704 (GRCm38) missense probably benign 0.34
IGL00979:Abcb1b APN 5 8,825,293 (GRCm38) splice site probably benign
IGL02157:Abcb1b APN 5 8,805,487 (GRCm38) splice site probably benign
IGL02478:Abcb1b APN 5 8,806,018 (GRCm38) missense probably damaging 0.98
IGL03174:Abcb1b APN 5 8,827,752 (GRCm38) missense probably benign 0.03
IGL03189:Abcb1b APN 5 8,845,814 (GRCm38) missense probably benign
IGL03195:Abcb1b APN 5 8,853,607 (GRCm38) missense possibly damaging 0.83
PIT4283001:Abcb1b UTSW 5 8,813,693 (GRCm38) missense probably damaging 1.00
R0049:Abcb1b UTSW 5 8,825,661 (GRCm38) missense probably damaging 1.00
R0166:Abcb1b UTSW 5 8,853,468 (GRCm38) missense probably damaging 1.00
R0319:Abcb1b UTSW 5 8,827,428 (GRCm38) missense probably benign 0.01
R0358:Abcb1b UTSW 5 8,821,423 (GRCm38) missense probably benign 0.16
R0365:Abcb1b UTSW 5 8,806,009 (GRCm38) missense probably damaging 1.00
R0408:Abcb1b UTSW 5 8,853,446 (GRCm38) missense probably damaging 0.98
R0521:Abcb1b UTSW 5 8,864,238 (GRCm38) missense probably damaging 1.00
R0533:Abcb1b UTSW 5 8,864,113 (GRCm38) critical splice acceptor site probably null
R0847:Abcb1b UTSW 5 8,845,764 (GRCm38) missense probably damaging 0.99
R1037:Abcb1b UTSW 5 8,825,657 (GRCm38) missense probably benign 0.03
R1432:Abcb1b UTSW 5 8,837,771 (GRCm38) missense possibly damaging 0.69
R1437:Abcb1b UTSW 5 8,821,436 (GRCm38) missense possibly damaging 0.90
R1520:Abcb1b UTSW 5 8,814,768 (GRCm38) missense probably damaging 1.00
R1686:Abcb1b UTSW 5 8,798,782 (GRCm38) missense probably damaging 0.97
R1700:Abcb1b UTSW 5 8,849,537 (GRCm38) missense probably benign 0.44
R1973:Abcb1b UTSW 5 8,812,746 (GRCm38) missense probably benign 0.01
R1993:Abcb1b UTSW 5 8,821,322 (GRCm38) missense possibly damaging 0.61
R2157:Abcb1b UTSW 5 8,824,791 (GRCm38) missense probably benign 0.37
R2207:Abcb1b UTSW 5 8,824,803 (GRCm38) missense probably benign 0.23
R2968:Abcb1b UTSW 5 8,861,485 (GRCm38) missense probably damaging 1.00
R3858:Abcb1b UTSW 5 8,813,581 (GRCm38) missense probably benign 0.11
R4223:Abcb1b UTSW 5 8,813,722 (GRCm38) missense probably damaging 0.97
R4379:Abcb1b UTSW 5 8,865,875 (GRCm38) missense probably benign 0.00
R4674:Abcb1b UTSW 5 8,810,615 (GRCm38) missense probably benign
R4964:Abcb1b UTSW 5 8,861,602 (GRCm38) missense probably damaging 1.00
R4964:Abcb1b UTSW 5 8,812,671 (GRCm38) missense probably benign 0.00
R5167:Abcb1b UTSW 5 8,812,656 (GRCm38) missense probably damaging 0.98
R5216:Abcb1b UTSW 5 8,813,705 (GRCm38) missense probably benign 0.04
R5328:Abcb1b UTSW 5 8,837,694 (GRCm38) missense possibly damaging 0.69
R5391:Abcb1b UTSW 5 8,805,481 (GRCm38) missense probably null 0.00
R5399:Abcb1b UTSW 5 8,827,410 (GRCm38) missense probably benign
R6047:Abcb1b UTSW 5 8,806,066 (GRCm38) missense probably damaging 1.00
R6157:Abcb1b UTSW 5 8,824,245 (GRCm38) missense possibly damaging 0.81
R6293:Abcb1b UTSW 5 8,853,493 (GRCm38) missense probably benign 0.05
R6493:Abcb1b UTSW 5 8,824,698 (GRCm38) missense probably damaging 1.00
R6593:Abcb1b UTSW 5 8,853,491 (GRCm38) missense probably benign
R6799:Abcb1b UTSW 5 8,812,656 (GRCm38) missense probably damaging 0.98
R6944:Abcb1b UTSW 5 8,813,693 (GRCm38) missense probably damaging 1.00
R7028:Abcb1b UTSW 5 8,805,441 (GRCm38) missense probably damaging 0.99
R7227:Abcb1b UTSW 5 8,825,593 (GRCm38) missense probably damaging 1.00
R7495:Abcb1b UTSW 5 8,865,871 (GRCm38) missense probably damaging 1.00
R7573:Abcb1b UTSW 5 8,828,866 (GRCm38) missense possibly damaging 0.80
R7681:Abcb1b UTSW 5 8,849,619 (GRCm38) missense probably benign 0.00
R7827:Abcb1b UTSW 5 8,837,747 (GRCm38) missense probably damaging 0.96
R7860:Abcb1b UTSW 5 8,832,258 (GRCm38) missense probably benign 0.12
R7961:Abcb1b UTSW 5 8,828,870 (GRCm38) missense possibly damaging 0.65
R8009:Abcb1b UTSW 5 8,828,870 (GRCm38) missense possibly damaging 0.65
R8054:Abcb1b UTSW 5 8,824,272 (GRCm38) missense probably benign
R8226:Abcb1b UTSW 5 8,821,390 (GRCm38) missense probably damaging 1.00
R8283:Abcb1b UTSW 5 8,806,086 (GRCm38) missense probably damaging 1.00
R8286:Abcb1b UTSW 5 8,864,119 (GRCm38) missense probably damaging 1.00
R8362:Abcb1b UTSW 5 8,798,758 (GRCm38) missense probably benign 0.00
R8387:Abcb1b UTSW 5 8,824,698 (GRCm38) missense probably damaging 1.00
R8426:Abcb1b UTSW 5 8,861,632 (GRCm38) critical splice donor site probably null
R8495:Abcb1b UTSW 5 8,865,865 (GRCm38) missense probably damaging 0.99
R8715:Abcb1b UTSW 5 8,812,750 (GRCm38) missense probably benign
R8874:Abcb1b UTSW 5 8,825,671 (GRCm38) missense possibly damaging 0.95
R9236:Abcb1b UTSW 5 8,824,893 (GRCm38) critical splice donor site probably null
R9292:Abcb1b UTSW 5 8,812,843 (GRCm38) missense probably benign 0.20
R9300:Abcb1b UTSW 5 8,825,614 (GRCm38) missense probably benign 0.00
R9387:Abcb1b UTSW 5 8,825,614 (GRCm38) missense probably benign 0.00
R9389:Abcb1b UTSW 5 8,825,614 (GRCm38) missense probably benign 0.00
R9616:Abcb1b UTSW 5 8,812,779 (GRCm38) missense probably benign 0.02
R9694:Abcb1b UTSW 5 8,849,573 (GRCm38) missense probably damaging 0.99
X0025:Abcb1b UTSW 5 8,824,515 (GRCm38) missense possibly damaging 0.91
X0061:Abcb1b UTSW 5 8,864,269 (GRCm38) splice site probably null
Z1176:Abcb1b UTSW 5 8,827,441 (GRCm38) missense probably benign
Z1177:Abcb1b UTSW 5 8,837,596 (GRCm38) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCATAGCAGCTTACTCATCAGTTCCC -3'
(R):5'- GGAAACCAGAGGCACATCTTCATCC -3'

Sequencing Primer
(F):5'- CTCATCAGTTCCCATAATAACGTG -3'
(R):5'- agccagagaaatgtcccaaag -3'
Posted On 2013-05-09