Incidental Mutation 'R7961:Abcb1b'
ID 650104
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 046005-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # R7961 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 8848147-8916314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8878870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 751 (N751K)
Ref Sequence ENSEMBL: ENSMUSP00000009058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009058] [ENSMUST00000199955]
AlphaFold P06795
Predicted Effect possibly damaging
Transcript: ENSMUST00000009058
AA Change: N751K

PolyPhen 2 Score 0.651 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: N751K

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
Meta Mutation Damage Score 0.1712 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 94% (44/47)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bckdha G A 7: 25,330,903 (GRCm39) R288W probably damaging Het
Ccng1 G A 11: 40,642,096 (GRCm39) H229Y probably benign Het
Cenpn C A 8: 117,663,976 (GRCm39) T256N probably benign Het
Ciart A G 3: 95,788,629 (GRCm39) V70A possibly damaging Het
Clcc1 A G 3: 108,568,774 (GRCm39) N36S probably damaging Het
Cntnap1 G A 11: 101,069,121 (GRCm39) A192T probably benign Het
Dmrt1 T A 19: 25,523,245 (GRCm39) S199T possibly damaging Het
Dmrt3 T C 19: 25,588,272 (GRCm39) V37A possibly damaging Het
Dock1 T A 7: 134,346,786 (GRCm39) D239E possibly damaging Het
Dyrk3 A G 1: 131,063,995 (GRCm39) probably null Het
Engase A G 11: 118,377,686 (GRCm39) D571G possibly damaging Het
Gm45871 C T 18: 90,609,883 (GRCm39) H374Y probably damaging Het
Icam5 T C 9: 20,950,051 (GRCm39) V870A possibly damaging Het
Idh2 T C 7: 79,748,001 (GRCm39) H233R probably benign Het
Kcna5 A G 6: 126,510,517 (GRCm39) L537P probably benign Het
Krt71 T C 15: 101,643,877 (GRCm39) I454V probably damaging Het
Krtap5-4 C T 7: 141,857,671 (GRCm39) Q114* probably null Het
Loxl3 T C 6: 83,027,790 (GRCm39) F734S possibly damaging Het
Lpcat1 C T 13: 73,659,498 (GRCm39) T420I probably damaging Het
Mia2 T A 12: 59,206,425 (GRCm39) probably null Het
Neurod4 A T 10: 130,106,356 (GRCm39) V306D possibly damaging Het
Nkiras2 A T 11: 100,510,628 (GRCm39) probably benign Het
Nrp2 C T 1: 62,784,567 (GRCm39) R239C probably damaging Het
Ntrk3 T A 7: 78,103,076 (GRCm39) D408V probably benign Het
Nubpl T A 12: 52,228,080 (GRCm39) L168* probably null Het
Odf1 A G 15: 38,226,840 (GRCm39) I247V unknown Het
Or4c35 A G 2: 89,808,131 (GRCm39) Q3R probably benign Het
Or4k48 G A 2: 111,476,282 (GRCm39) S20F probably damaging Het
Or5d41 C A 2: 88,055,033 (GRCm39) M114I possibly damaging Het
Pcsk1 T C 13: 75,274,958 (GRCm39) S516P probably benign Het
Pikfyve A G 1: 65,294,293 (GRCm39) D1411G probably damaging Het
Polm T C 11: 5,780,155 (GRCm39) D294G possibly damaging Het
Ppcs A T 4: 119,276,262 (GRCm39) S281T probably benign Het
Pramel34 T C 5: 93,784,543 (GRCm39) D307G probably damaging Het
Pspc1 G A 14: 57,009,304 (GRCm39) Q177* probably null Het
Rbm33 G A 5: 28,599,606 (GRCm39) G185R Het
Satb2 A G 1: 56,910,917 (GRCm39) S243P probably benign Het
Serinc5 T C 13: 92,797,699 (GRCm39) probably null Het
Sgsm1 T C 5: 113,430,510 (GRCm39) T292A probably damaging Het
Smad3 G A 9: 63,557,564 (GRCm39) R420C possibly damaging Het
Sntg1 C T 1: 8,433,794 (GRCm39) V486I probably damaging Het
Tep1 A G 14: 51,061,687 (GRCm39) S2610P possibly damaging Het
Tmem200a A G 10: 25,869,904 (GRCm39) S122P probably damaging Het
Tnks2 T A 19: 36,829,901 (GRCm39) M194K probably benign Het
Trav14d-3-dv8 A C 14: 53,316,224 (GRCm39) Q28P probably damaging Het
Trpm5 T C 7: 142,634,106 (GRCm39) E700G probably benign Het
Ubqln3 T A 7: 103,791,797 (GRCm39) I98L probably benign Het
Usp25 A G 16: 76,856,150 (GRCm39) I248V probably damaging Het
Vmn1r28 T C 6: 58,242,178 (GRCm39) V7A probably benign Het
Zfp60 G A 7: 27,447,881 (GRCm39) G183D probably benign 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
R7827:Abcb1b UTSW 5 8,887,747 (GRCm39) missense probably damaging 0.96
R7860:Abcb1b UTSW 5 8,882,258 (GRCm39) missense probably benign 0.12
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'- GCAGAATGCAGATGCTTTGG -3'
(R):5'- CATCATCACGTCAAAGGCTGTAC -3'

Sequencing Primer
(F):5'- CAGAATGCAGATGCTTTGGAGGTC -3'
(R):5'- TCACGTCAAAGGCTGTACTGGAG -3'
Posted On 2020-09-15