Incidental Mutation 'R9098:Abcb4'
ID 691469
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 068913-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9098 (G1)
Quality Score 205.009
Status Validated
Chromosome 5
Chromosomal Location 8943717-9009231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 9008441 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 1203 (D1203V)
Ref Sequence ENSEMBL: ENSMUSP00000003717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003717]
AlphaFold P21440
Predicted Effect probably damaging
Transcript: ENSMUST00000003717
AA Change: D1203V

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: D1203V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 97% (72/74)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A T 1: 11,633,211 (GRCm39) D168V probably damaging Het
Acat2 G A 17: 13,178,979 (GRCm39) probably benign Het
Adam3 C T 8: 25,179,484 (GRCm39) C611Y probably damaging Het
Adgrb1 A G 15: 74,415,189 (GRCm39) D638G probably damaging Het
Adra1b T C 11: 43,667,218 (GRCm39) N340D probably damaging Het
Ankrd31 A G 13: 96,916,879 (GRCm39) H131R probably damaging Het
Aoc2 T C 11: 101,217,164 (GRCm39) S416P possibly damaging Het
Armc8 G A 9: 99,387,362 (GRCm39) R419* probably null Het
Atp6v1h T G 1: 5,163,638 (GRCm39) V90G probably damaging Het
Avl9 T C 6: 56,707,628 (GRCm39) V191A probably benign Het
Bsn G A 9: 107,990,173 (GRCm39) P1860S possibly damaging Het
Btd A G 14: 31,384,233 (GRCm39) K73R probably benign Het
Cd22 T C 7: 30,567,391 (GRCm39) K731R probably benign Het
Chmp7 C A 14: 69,956,911 (GRCm39) L332F probably damaging Het
Cirop T G 14: 54,932,686 (GRCm39) S393R probably damaging Het
Cldn11 A G 3: 31,217,276 (GRCm39) E148G probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Cnbd1 A T 4: 18,886,061 (GRCm39) Y319* probably null Het
Cnnm4 A G 1: 36,511,170 (GRCm39) T133A probably benign Het
Cpeb4 A T 11: 31,822,679 (GRCm39) E131V probably benign Het
Ctns A G 11: 73,078,561 (GRCm39) probably null Het
Dhx36 C A 3: 62,414,142 (GRCm39) Q73H probably benign Het
Dhx36 C A 3: 62,414,141 (GRCm39) E74* probably null Het
Dnah5 A G 15: 28,420,107 (GRCm39) T3802A Het
Fbxo31 G A 8: 122,281,136 (GRCm39) R337C probably damaging Het
Flnc C T 6: 29,455,518 (GRCm39) Q2056* probably null Het
Fmo9 T C 1: 166,492,199 (GRCm39) D408G possibly damaging Het
Gipr C T 7: 18,897,495 (GRCm39) S117N unknown Het
Gm14412 T A 2: 177,006,356 (GRCm39) H513L probably damaging Het
Gm21663 G C 5: 26,147,167 (GRCm39) C46W probably benign Het
Gucy1a2 A T 9: 3,634,489 (GRCm39) I178L probably benign Het
Htr1b A T 9: 81,514,481 (GRCm39) L42Q Het
Htr2b T C 1: 86,027,481 (GRCm39) T342A probably damaging Het
Jkampl T C 6: 73,446,517 (GRCm39) T11A probably benign Het
Jph2 C T 2: 163,181,473 (GRCm39) V564M probably damaging Het
Kcnmb1 A G 11: 33,914,806 (GRCm39) T36A probably damaging Het
Krit1 A C 5: 3,863,135 (GRCm39) K310N probably benign Het
Lama1 C T 17: 68,111,508 (GRCm39) T2253M Het
Lpar6 C T 14: 73,476,233 (GRCm39) L65F probably damaging Het
Megf6 G A 4: 154,354,160 (GRCm39) G1355R probably damaging Het
Mmp3 T A 9: 7,446,936 (GRCm39) Y39N probably damaging Het
Mrtfb A G 16: 13,221,053 (GRCm39) H743R probably benign Het
Ms4a18 C A 19: 10,990,741 (GRCm39) V118F Het
Mthfr G A 4: 148,126,082 (GRCm39) S51N probably benign Het
Muc16 T A 9: 18,554,975 (GRCm39) T3773S unknown Het
Mus81 T A 19: 5,534,032 (GRCm39) K400* probably null Het
Naaladl2 A T 3: 24,487,344 (GRCm39) D192E probably benign Het
Naip5 T C 13: 100,366,127 (GRCm39) D329G possibly damaging Het
Nek11 T A 9: 105,170,856 (GRCm39) H393L probably benign Het
Nmt2 T A 2: 3,306,315 (GRCm39) probably benign Het
Nmur2 T C 11: 55,920,408 (GRCm39) D279G possibly damaging Het
Nol4l C A 2: 153,312,630 (GRCm39) R226L probably damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or10d4c A G 9: 39,558,379 (GRCm39) D119G probably damaging Het
Or1o2 T C 17: 37,542,961 (GRCm39) Y100C probably benign Het
Or5ak22 T C 2: 85,229,995 (GRCm39) N294S probably damaging Het
Palm A G 10: 79,654,988 (GRCm39) T249A probably benign Het
Pramel22 A T 4: 143,381,097 (GRCm39) Y309N probably benign Het
Rhobtb3 A G 13: 76,087,702 (GRCm39) I95T probably damaging Het
Rnpep A T 1: 135,206,559 (GRCm39) F178L possibly damaging Het
Rsl1d1 A G 16: 11,019,227 (GRCm39) S105P probably damaging Het
Rxra C T 2: 27,638,756 (GRCm39) T253I possibly damaging Het
Schip1 A G 3: 67,972,318 (GRCm39) D15G Het
Sis T A 3: 72,844,578 (GRCm39) I719F possibly damaging Het
Snx18 A G 13: 113,754,310 (GRCm39) S208P probably benign Het
Srcap T C 7: 127,151,816 (GRCm39) V2125A probably damaging Het
Stx7 C T 10: 24,058,724 (GRCm39) Q199* probably null Het
Syt6 T C 3: 103,492,895 (GRCm39) I134T probably damaging Het
Tlr12 A G 4: 128,510,870 (GRCm39) M460T probably benign Het
Tnni3k T C 3: 154,647,314 (GRCm39) T398A possibly damaging Het
Tspan4 T C 7: 141,071,816 (GRCm39) S188P probably benign Het
Ubap2l A G 3: 89,909,756 (GRCm39) S1025P unknown Het
Ubl7 A G 9: 57,829,035 (GRCm39) D219G probably benign Het
Vmn2r115 C A 17: 23,564,803 (GRCm39) T230K probably benign Het
Vmn2r95 T A 17: 18,660,167 (GRCm39) M193K possibly damaging Het
Zfp639 A G 3: 32,573,885 (GRCm39) E170G probably damaging Het
Zfy1 A G Y: 725,987 (GRCm39) S593P possibly damaging Het
Zscan4-ps1 T A 7: 10,799,495 (GRCm39) T465S probably damaging 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
R4112:Abcb4 UTSW 5 8,986,783 (GRCm39) critical splice acceptor site probably null
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
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'- AGTCTAAGCTGTGATTCCACG -3'
(R):5'- GGGCTTCCATAATGACCCTC -3'

Sequencing Primer
(F):5'- TCCACGGAAATCAGATTAAATGC -3'
(R):5'- TCCATAATGACCCTCAAAACTGTTG -3'
Posted On 2021-12-30