Incidental Mutation 'R1686:Abcb1b'
ID 189331
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 039719-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.471) question?
Stock # R1686 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 8848147-8916314 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8848782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 14 (N14S)
Ref Sequence ENSEMBL: ENSMUSP00000143766 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009058] [ENSMUST00000196580] [ENSMUST00000199955]
AlphaFold P06795
Predicted Effect probably benign
Transcript: ENSMUST00000009058
AA Change: N14S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000009058
Gene: ENSMUSG00000028970
AA Change: N14S

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: ENSMUST00000181058
Predicted Effect probably damaging
Transcript: ENSMUST00000196580
AA Change: N14S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143612
Gene: ENSMUSG00000028970
AA Change: N14S

DomainStartEndE-ValueType
PDB:4M2T|B 1 78 2e-26 PDB
Blast:AAA 33 78 2e-11 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000199955
AA Change: N14S

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000143766
Gene: ENSMUSG00000028970
AA Change: N14S

DomainStartEndE-ValueType
PDB:4M2T|B 1 78 2e-26 PDB
Blast:AAA 33 78 2e-11 BLAST
Meta Mutation Damage Score 0.0986 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (85/85)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik G A 10: 100,448,722 (GRCm39) V400I probably damaging Het
Adamts14 A G 10: 61,034,439 (GRCm39) Y1150H probably benign Het
Adgrg3 A G 8: 95,759,997 (GRCm39) N72S probably benign Het
Akain1 T A 17: 69,746,527 (GRCm39) F3I possibly damaging Het
Akr1c21 T C 13: 4,627,452 (GRCm39) L182P probably damaging Het
Arhgap21 A T 2: 20,886,659 (GRCm39) Y12N probably damaging Het
Aup1 A T 6: 83,032,226 (GRCm39) H131L probably damaging Het
Bag6 A G 17: 35,363,928 (GRCm39) T812A possibly damaging Het
Bmp2k A G 5: 97,211,392 (GRCm39) Y520C unknown Het
Calm4 T G 13: 3,888,302 (GRCm39) V136G probably damaging Het
Catsper2 A G 2: 121,230,523 (GRCm39) probably null Het
Cc2d2a A G 5: 43,896,713 (GRCm39) T1537A possibly damaging Het
Cntn2 A T 1: 132,454,049 (GRCm39) V319D possibly damaging Het
Cux1 G A 5: 136,304,235 (GRCm39) R1314* probably null Het
Cxcl12 A G 6: 117,150,508 (GRCm39) I79V probably damaging Het
Cyp2j6 T C 4: 96,412,014 (GRCm39) D418G probably benign Het
Ddx28 G C 8: 106,737,190 (GRCm39) D289E probably damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fam135a A C 1: 24,068,887 (GRCm39) S448A probably benign Het
Fbxo33 G T 12: 59,251,626 (GRCm39) N30K possibly damaging Het
Fgf12 A C 16: 28,217,093 (GRCm39) Y21D probably damaging Het
Galntl5 C T 5: 25,415,432 (GRCm39) S288L probably benign Het
Gart G T 16: 91,422,237 (GRCm39) A760D probably damaging Het
Gba2 A T 4: 43,573,869 (GRCm39) probably benign Het
Gm10518 C A 1: 179,631,357 (GRCm39) S139* probably null Het
Gm4781 A T 10: 100,232,837 (GRCm39) noncoding transcript Het
Gm9790 A G 3: 85,823,156 (GRCm39) noncoding transcript Het
Gmps G A 3: 63,893,075 (GRCm39) G127R probably damaging Het
Golim4 A T 3: 75,802,443 (GRCm39) V283E probably benign Het
Gprc5a A T 6: 135,055,918 (GRCm39) I122F possibly damaging Het
Gzmc T C 14: 56,471,341 (GRCm39) K67E probably benign Het
Hapln3 C A 7: 78,771,638 (GRCm39) V84L probably benign Het
Hif3a T A 7: 16,778,789 (GRCm39) N377Y possibly damaging Het
Ifi211 G A 1: 173,726,969 (GRCm39) H392Y probably damaging Het
Iqgap3 T A 3: 88,015,663 (GRCm39) probably benign Het
Itga10 T A 3: 96,559,141 (GRCm39) F410Y probably damaging Het
Jup T C 11: 100,263,260 (GRCm39) Y705C probably damaging Het
Khsrp C T 17: 57,332,597 (GRCm39) A228T probably benign Het
Lmntd2 C T 7: 140,790,998 (GRCm39) G445D probably damaging Het
Lyst T C 13: 13,809,290 (GRCm39) V320A possibly damaging Het
Magel2 T A 7: 62,027,988 (GRCm39) H297Q possibly damaging Het
Mbd6 T C 10: 127,123,286 (GRCm39) E33G probably damaging Het
Mob3b A G 4: 34,985,910 (GRCm39) probably benign Het
Mroh2a T C 1: 88,162,334 (GRCm39) probably null Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mymk A T 2: 26,952,346 (GRCm39) W174R probably damaging Het
Nckap1 C T 2: 80,348,286 (GRCm39) S889N probably benign Het
Nipal3 T C 4: 135,174,599 (GRCm39) Y384C possibly damaging Het
Nt5c3b A G 11: 100,330,920 (GRCm39) probably benign Het
Obox6 T A 7: 15,567,750 (GRCm39) L232F probably damaging Het
Obscn A C 11: 58,997,113 (GRCm39) probably benign Het
Or7g12 T C 9: 18,899,839 (GRCm39) L185P probably damaging Het
Phkb A G 8: 86,748,278 (GRCm39) I706V probably benign Het
Plcb2 A G 2: 118,546,168 (GRCm39) probably benign Het
Plek2 T C 12: 78,941,184 (GRCm39) D216G probably damaging Het
Plxnb2 T C 15: 89,046,665 (GRCm39) Y855C probably damaging Het
Prkcz T C 4: 155,355,713 (GRCm39) T227A probably damaging Het
Psma7 A T 2: 179,679,215 (GRCm39) D184E probably benign Het
Rai14 T A 15: 10,592,282 (GRCm39) L204F probably damaging Het
Ralgapa2 A G 2: 146,199,920 (GRCm39) V1208A probably benign Het
Rapgef6 A G 11: 54,582,458 (GRCm39) R67G possibly damaging Het
Ryr2 C T 13: 11,618,665 (GRCm39) probably benign Het
Satb1 T C 17: 52,047,027 (GRCm39) S763G probably benign Het
Sdk1 A T 5: 142,020,292 (GRCm39) H690L probably benign Het
Sfrp5 A C 19: 42,190,143 (GRCm39) V103G possibly damaging Het
Six6 A G 12: 72,988,451 (GRCm39) E208G probably benign Het
Sspo A T 6: 48,437,334 (GRCm39) H1364L probably benign Het
Stard9 A T 2: 120,529,973 (GRCm39) T2077S probably benign Het
Tacr3 T C 3: 134,535,254 (GRCm39) L74P probably damaging Het
Tep1 T C 14: 51,074,245 (GRCm39) E1880G probably benign Het
Tgfb3 A T 12: 86,116,517 (GRCm39) probably benign Het
Thap7 G A 16: 17,346,576 (GRCm39) P136S probably damaging Het
Thoc2l T A 5: 104,667,789 (GRCm39) Y770* probably null Het
Tmc2 T C 2: 130,098,036 (GRCm39) V717A possibly damaging Het
Usp43 T A 11: 67,778,593 (GRCm39) S446C probably damaging Het
Vwa3a C T 7: 120,379,371 (GRCm39) S492L probably damaging Het
Wdhd1 T A 14: 47,493,672 (GRCm39) N16I probably damaging Het
Wdr95 A T 5: 149,516,566 (GRCm39) D327V probably damaging Het
Zfp128 T G 7: 12,624,563 (GRCm39) Y310* probably null 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
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
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'- AGCCTTCAGGACGGTGTTTTCC -3'
(R):5'- TCAAGGCATGAGCGATCAACAGC -3'

Sequencing Primer
(F):5'- GCCCTGTGCTGTGGATCTC -3'
(R):5'- TTCACAGAAGCATCCATCTGTC -3'
Posted On 2014-05-14