Incidental Mutation 'R4112:Abcb4'
ID 314451
Institutional Source Beutler Lab
Gene Symbol Abcb4
Ensembl Gene ENSMUSG00000042476
Gene Name ATP-binding cassette, sub-family B member 4
Synonyms mdr-2, Mdr2, Pgy2, Pgy-2
MMRRC Submission 040989-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4112 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 8943717-9009231 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to G at 8986783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003717] [ENSMUST00000196067]
AlphaFold P21440
Predicted Effect probably null
Transcript: ENSMUST00000003717
SMART Domains Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476

DomainStartEndE-ValueType
Pfam:ABC_membrane 54 342 2e-94 PFAM
AAA 418 610 3.97e-20 SMART
Pfam:ABC_membrane 708 982 6.3e-77 PFAM
AAA 1058 1246 4.49e-19 SMART
Predicted Effect probably null
Transcript: ENSMUST00000196067
SMART Domains Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476

DomainStartEndE-ValueType
Pfam:ABC_membrane 54 344 2.4e-95 PFAM
AAA 418 610 6.2e-22 SMART
Pfam:ABC_membrane 708 882 1.6e-37 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199954
Meta Mutation Damage Score 0.9492 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.3%
Validation Efficiency 97% (56/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 full transporter and member of the p-glycoprotein family of membrane proteins with phosphatidylcholine as its substrate. The function of this protein has not yet been determined; however, it may involve transport of phospholipids from liver hepatocytes into bile. Alternative splicing of this gene results in several products of undetermined function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for targeted mutations that inactivate the gene are unable to secrete phospholipids into bile, leading to progressive hepatic disease, with an end stage of 3 months. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Aamp A G 1: 74,320,386 (GRCm39) probably benign Het
Adam6b T A 12: 113,453,256 (GRCm39) F24L possibly damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Angpt2 T A 8: 18,749,139 (GRCm39) Q326L probably damaging Het
Armc9 T A 1: 86,116,661 (GRCm39) I327N possibly damaging Het
Bace2 A G 16: 97,237,856 (GRCm39) T436A probably benign Het
Ccdc162 T A 10: 41,532,324 (GRCm39) E450V possibly damaging Het
Ccdc7b G T 8: 129,811,708 (GRCm39) probably benign Het
Cdh17 T C 4: 11,814,628 (GRCm39) S728P probably damaging Het
Chia1 T C 3: 106,035,844 (GRCm39) L168P probably damaging Het
Cnot1 A C 8: 96,500,246 (GRCm39) L111V probably damaging Het
Col14a1 A T 15: 55,226,955 (GRCm39) N235I unknown Het
Col2a1 A C 15: 97,881,582 (GRCm39) L787R probably benign Het
Cyp3a25 A T 5: 145,939,841 (GRCm39) D55E probably benign Het
Dennd6a A T 14: 26,349,673 (GRCm39) probably benign Het
Dnajc28 G A 16: 91,413,755 (GRCm39) T187M probably damaging Het
Etfbkmt T C 6: 149,046,089 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,098 (GRCm39) Y23H probably damaging Het
Gemin4 T A 11: 76,103,645 (GRCm39) E372V probably damaging Het
Glyr1 T C 16: 4,836,350 (GRCm39) K500E possibly damaging Het
Gm10271 A T 10: 116,803,943 (GRCm39) probably benign Het
Gm20775 A T Y: 10,641,878 (GRCm39) noncoding transcript Het
Gm5578 A G 6: 112,583,466 (GRCm39) noncoding transcript Het
Gxylt2 A G 6: 100,760,167 (GRCm39) N234S probably damaging Het
Kcna6 G C 6: 126,716,737 (GRCm39) R51G probably damaging Het
Klf17 A G 4: 117,617,898 (GRCm39) V153A possibly damaging Het
L3mbtl2 T C 15: 81,566,170 (GRCm39) V331A possibly damaging Het
Med1 A T 11: 98,070,913 (GRCm39) V110E probably damaging Het
Nsmaf A C 4: 6,417,188 (GRCm39) Y535* probably null Het
Pcdh10 G A 3: 45,336,055 (GRCm39) V790M probably damaging Het
Phlpp1 A G 1: 106,292,068 (GRCm39) T976A probably damaging Het
Prelid3a T C 18: 67,605,967 (GRCm39) Y25H probably damaging Het
Ptprk T A 10: 28,351,284 (GRCm39) probably null Het
Rbm5 A T 9: 107,642,796 (GRCm39) D79E probably damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Rnd3 T A 2: 51,038,242 (GRCm39) T78S possibly damaging Het
Scart2 G T 7: 139,878,281 (GRCm39) G1003* probably null Het
Sgca T C 11: 94,863,396 (GRCm39) T27A possibly damaging Het
Slc10a2 C T 8: 5,155,135 (GRCm39) D17N probably benign Het
Snap23 C T 2: 120,414,856 (GRCm39) probably benign Het
Sptb T A 12: 76,644,553 (GRCm39) T2098S probably damaging Het
Src T A 2: 157,304,946 (GRCm39) L165H probably damaging Het
Srr G T 11: 74,803,898 (GRCm39) Q20K probably benign Het
Stt3b A T 9: 115,095,206 (GRCm39) F275Y probably damaging Het
Sucnr1 C G 3: 59,994,215 (GRCm39) R248G probably damaging Het
Thsd7b A T 1: 130,044,356 (GRCm39) D1112V probably benign Het
Tmem80 A G 7: 140,913,692 (GRCm39) probably benign Het
Top2a C A 11: 98,913,786 (GRCm39) K18N probably damaging Het
Ttc24 T A 3: 87,981,946 (GRCm39) D40V probably damaging Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Zfp3 T A 11: 70,662,333 (GRCm39) S97R probably benign Het
Other mutations in Abcb4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00570:Abcb4 APN 5 9,000,073 (GRCm39) missense probably benign 0.02
IGL00663:Abcb4 APN 5 8,977,916 (GRCm39) missense probably damaging 1.00
IGL00671:Abcb4 APN 5 8,980,745 (GRCm39) nonsense probably null
IGL00822:Abcb4 APN 5 9,000,046 (GRCm39) missense probably benign
IGL01080:Abcb4 APN 5 8,984,258 (GRCm39) missense probably damaging 1.00
IGL01152:Abcb4 APN 5 9,000,678 (GRCm39) missense probably benign 0.19
IGL01329:Abcb4 APN 5 8,944,166 (GRCm39) critical splice donor site probably null
IGL01483:Abcb4 APN 5 8,977,871 (GRCm39) missense probably damaging 0.99
IGL01594:Abcb4 APN 5 8,996,071 (GRCm39) splice site probably null
IGL01785:Abcb4 APN 5 8,965,058 (GRCm39) nonsense probably null
IGL01968:Abcb4 APN 5 8,977,913 (GRCm39) missense probably benign 0.33
IGL02579:Abcb4 APN 5 9,005,537 (GRCm39) missense probably damaging 1.00
IGL02654:Abcb4 APN 5 8,977,826 (GRCm39) missense possibly damaging 0.80
IGL02658:Abcb4 APN 5 8,984,240 (GRCm39) missense probably benign
IGL03229:Abcb4 APN 5 8,990,936 (GRCm39) missense probably damaging 0.97
IGL03335:Abcb4 APN 5 8,985,258 (GRCm39) missense probably benign 0.00
FR4737:Abcb4 UTSW 5 8,946,597 (GRCm39) small deletion probably benign
P0014:Abcb4 UTSW 5 9,000,083 (GRCm39) missense probably benign 0.01
R0102:Abcb4 UTSW 5 8,959,194 (GRCm39) missense probably damaging 0.99
R0102:Abcb4 UTSW 5 8,959,194 (GRCm39) missense probably damaging 0.99
R0309:Abcb4 UTSW 5 8,989,835 (GRCm39) missense probably damaging 1.00
R0311:Abcb4 UTSW 5 8,984,243 (GRCm39) missense probably benign
R0420:Abcb4 UTSW 5 8,991,050 (GRCm39) missense probably benign 0.03
R0449:Abcb4 UTSW 5 8,989,885 (GRCm39) nonsense probably null
R0609:Abcb4 UTSW 5 8,997,376 (GRCm39) missense probably damaging 0.96
R1459:Abcb4 UTSW 5 8,968,662 (GRCm39) missense possibly damaging 0.61
R1470:Abcb4 UTSW 5 8,990,968 (GRCm39) missense probably damaging 0.98
R1470:Abcb4 UTSW 5 8,990,968 (GRCm39) missense probably damaging 0.98
R1812:Abcb4 UTSW 5 8,978,578 (GRCm39) critical splice donor site probably null
R1944:Abcb4 UTSW 5 8,980,796 (GRCm39) missense probably damaging 1.00
R2002:Abcb4 UTSW 5 8,955,989 (GRCm39) missense probably benign 0.01
R2256:Abcb4 UTSW 5 9,008,431 (GRCm39) missense probably damaging 1.00
R3116:Abcb4 UTSW 5 8,946,610 (GRCm39) missense possibly damaging 0.86
R4354:Abcb4 UTSW 5 8,968,771 (GRCm39) missense probably benign 0.44
R4512:Abcb4 UTSW 5 8,978,573 (GRCm39) missense probably damaging 1.00
R4588:Abcb4 UTSW 5 8,997,328 (GRCm39) missense probably benign 0.01
R4628:Abcb4 UTSW 5 8,957,399 (GRCm39) missense probably benign 0.08
R4708:Abcb4 UTSW 5 8,965,125 (GRCm39) missense possibly damaging 0.90
R4714:Abcb4 UTSW 5 8,980,906 (GRCm39) splice site probably null
R4754:Abcb4 UTSW 5 8,960,717 (GRCm39) missense probably damaging 1.00
R4846:Abcb4 UTSW 5 8,985,180 (GRCm39) missense probably benign
R4896:Abcb4 UTSW 5 8,957,267 (GRCm39) missense possibly damaging 0.81
R4944:Abcb4 UTSW 5 8,984,327 (GRCm39) critical splice donor site probably null
R4994:Abcb4 UTSW 5 8,978,524 (GRCm39) missense probably damaging 1.00
R5022:Abcb4 UTSW 5 8,959,054 (GRCm39) splice site probably null
R5537:Abcb4 UTSW 5 9,005,485 (GRCm39) missense probably damaging 0.98
R5754:Abcb4 UTSW 5 8,984,320 (GRCm39) missense probably benign
R5833:Abcb4 UTSW 5 9,008,314 (GRCm39) missense probably damaging 1.00
R5934:Abcb4 UTSW 5 8,980,806 (GRCm39) missense probably benign 0.18
R6006:Abcb4 UTSW 5 8,996,026 (GRCm39) missense probably damaging 0.99
R6146:Abcb4 UTSW 5 8,946,587 (GRCm39) missense probably benign 0.05
R6183:Abcb4 UTSW 5 8,968,718 (GRCm39) missense probably benign
R6260:Abcb4 UTSW 5 8,984,219 (GRCm39) nonsense probably null
R6561:Abcb4 UTSW 5 8,977,825 (GRCm39) missense probably benign 0.14
R7016:Abcb4 UTSW 5 8,986,843 (GRCm39) missense probably benign 0.35
R7081:Abcb4 UTSW 5 8,984,263 (GRCm39) missense probably benign
R7326:Abcb4 UTSW 5 8,984,226 (GRCm39) missense probably benign 0.00
R7375:Abcb4 UTSW 5 8,968,671 (GRCm39) missense probably benign
R7787:Abcb4 UTSW 5 8,959,220 (GRCm39) missense probably damaging 1.00
R7836:Abcb4 UTSW 5 8,984,203 (GRCm39) missense probably benign
R8128:Abcb4 UTSW 5 9,008,395 (GRCm39) missense probably damaging 1.00
R8350:Abcb4 UTSW 5 8,978,578 (GRCm39) critical splice donor site probably null
R8438:Abcb4 UTSW 5 8,996,120 (GRCm39) critical splice donor site probably null
R8447:Abcb4 UTSW 5 8,957,278 (GRCm39) missense probably damaging 0.97
R8710:Abcb4 UTSW 5 9,005,495 (GRCm39) missense probably damaging 1.00
R8777:Abcb4 UTSW 5 8,989,894 (GRCm39) missense probably benign 0.01
R8777-TAIL:Abcb4 UTSW 5 8,989,894 (GRCm39) missense probably benign 0.01
R8837:Abcb4 UTSW 5 8,986,873 (GRCm39) missense probably damaging 0.99
R8987:Abcb4 UTSW 5 8,977,931 (GRCm39) missense probably benign 0.02
R9098:Abcb4 UTSW 5 9,008,441 (GRCm39) missense probably damaging 1.00
R9167:Abcb4 UTSW 5 8,986,849 (GRCm39) nonsense probably null
R9210:Abcb4 UTSW 5 9,005,591 (GRCm39) missense probably damaging 1.00
R9212:Abcb4 UTSW 5 9,005,591 (GRCm39) missense probably damaging 1.00
R9218:Abcb4 UTSW 5 8,977,960 (GRCm39) missense probably benign 0.20
R9242:Abcb4 UTSW 5 8,949,677 (GRCm39) missense probably damaging 1.00
R9376:Abcb4 UTSW 5 9,008,988 (GRCm39) missense probably damaging 1.00
R9476:Abcb4 UTSW 5 8,977,790 (GRCm39) missense probably damaging 1.00
RF015:Abcb4 UTSW 5 8,946,594 (GRCm39) frame shift probably null
RF047:Abcb4 UTSW 5 8,946,595 (GRCm39) frame shift probably null
Z1176:Abcb4 UTSW 5 9,009,005 (GRCm39) missense probably damaging 1.00
Z1177:Abcb4 UTSW 5 8,989,906 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- AAACATGTTGGCAACTTGGGG -3'
(R):5'- GGAAGTTTGGTTAGAGCTTCAC -3'

Sequencing Primer
(F):5'- GCATATATGTAATACCCCTGGACTG -3'
(R):5'- TTGGTTAGAGCTTCACTAATTTCTC -3'
Posted On 2015-05-14