Incidental Mutation 'R7326:Abcb4'
ID 568882
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 045378-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7326 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 8943717-9009231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 8984226 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 652 (V652A)
Ref Sequence ENSEMBL: ENSMUSP00000003717 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003717] [ENSMUST00000196067]
AlphaFold P21440
Predicted Effect probably benign
Transcript: ENSMUST00000003717
AA Change: V652A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: V652A

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 benign
Transcript: ENSMUST00000196067
AA Change: V652A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: V652A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
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: 112 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 G T 15: 101,038,953 (GRCm39) V417L probably damaging Het
Add1 A G 5: 34,776,715 (GRCm39) R479G probably benign Het
Adgb A T 10: 10,276,318 (GRCm39) L350Q possibly damaging Het
Adgrl2 A T 3: 148,552,506 (GRCm39) S666T probably benign Het
Akap9 T A 5: 4,095,930 (GRCm39) D2268E possibly damaging Het
Amigo3 C A 9: 107,931,265 (GRCm39) H229Q probably benign Het
Ano6 G C 15: 95,762,125 (GRCm39) Q31H possibly damaging Het
Ap4m1 G A 5: 138,173,281 (GRCm39) D180N probably damaging Het
Apc2 A T 10: 80,147,574 (GRCm39) D876V probably damaging Het
Apcdd1 T A 18: 63,085,259 (GRCm39) Y485* probably null Het
Aqp1 G T 6: 55,313,836 (GRCm39) D121Y probably benign Het
Bicd2 C A 13: 49,523,085 (GRCm39) R141S probably benign Het
Brpf3 C A 17: 29,025,267 (GRCm39) H113Q probably benign Het
Cacng2 A T 15: 77,897,520 (GRCm39) Y96* probably null Het
Catsperg1 G T 7: 28,910,184 (GRCm39) N52K possibly damaging Het
Celsr2 A C 3: 108,302,311 (GRCm39) F2606V possibly damaging Het
Cerkl A T 2: 79,162,949 (GRCm39) N516K probably benign Het
Ciita G A 16: 10,330,152 (GRCm39) R812H probably damaging Het
Cldn3 T A 5: 135,015,837 (GRCm39) L180Q probably damaging Het
Cnot6l T C 5: 96,225,158 (GRCm39) I512V probably benign Het
Col5a2 A T 1: 45,482,027 (GRCm39) D32E unknown Het
Coro7 A G 16: 4,449,912 (GRCm39) V616A probably damaging Het
Cyp4f18 T C 8: 72,742,498 (GRCm39) D494G probably benign Het
Ddx39a T A 8: 84,449,100 (GRCm39) V296E probably benign Het
Dgkg A T 16: 22,367,440 (GRCm39) H593Q probably damaging Het
Dhx16 T C 17: 36,197,052 (GRCm39) L645P probably damaging Het
Dnah14 A G 1: 181,425,968 (GRCm39) M171V probably benign Het
Dnhd1 G A 7: 105,370,137 (GRCm39) V4521I probably damaging Het
Dok7 A T 5: 35,221,866 (GRCm39) M60L probably benign Het
Donson A T 16: 91,485,599 (GRCm39) M1K probably null Het
Dsp C T 13: 38,376,859 (GRCm39) T1548M probably benign Het
Dyrk1a A G 16: 94,492,902 (GRCm39) T712A probably damaging Het
Eef2 A G 10: 81,017,116 (GRCm39) T708A probably benign Het
Epn3 G A 11: 94,384,606 (GRCm39) T289I probably benign Het
Fam171a1 C T 2: 3,227,509 (GRCm39) R881* probably null Het
Fat2 T A 11: 55,173,130 (GRCm39) R2528W probably damaging Het
Fbxl9 T C 8: 106,039,530 (GRCm39) D127G probably damaging Het
Fgfr1 T G 8: 26,063,855 (GRCm39) F707C probably damaging Het
Frem2 G C 3: 53,562,174 (GRCm39) P778A probably damaging Het
Ganc A G 2: 120,261,080 (GRCm39) Y255C probably damaging Het
Garin4 G A 1: 190,896,550 (GRCm39) T31M probably benign Het
Ginm1 A T 10: 7,653,614 (GRCm39) Y65* probably null Het
Gm11559 T A 11: 99,755,707 (GRCm39) C119S unknown Het
Gnai1 T A 5: 18,494,549 (GRCm39) H188L Het
H2bc6 T C 13: 23,769,906 (GRCm39) K12E probably benign Het
H6pd C T 4: 150,080,807 (GRCm39) A13T probably benign Het
Hoxd12 A T 2: 74,505,590 (GRCm39) T54S possibly damaging Het
Hs3st5 T A 10: 36,709,190 (GRCm39) L242M probably damaging Het
Il9r C A 11: 32,144,389 (GRCm39) V139L possibly damaging Het
Immt A G 6: 71,823,353 (GRCm39) D68G probably damaging Het
Itsn2 A G 12: 4,682,985 (GRCm39) I304V unknown Het
Lgr4 G A 2: 109,826,974 (GRCm39) W159* probably null Het
Lin52 G A 12: 84,504,728 (GRCm39) G38S probably damaging Het
Lpgat1 A T 1: 191,451,565 (GRCm39) M64L probably benign Het
Lrrc10b G T 19: 10,434,142 (GRCm39) R180S possibly damaging Het
Lrrc36 A T 8: 106,176,401 (GRCm39) L258F possibly damaging Het
Ltbp4 T A 7: 27,029,180 (GRCm39) Q235L unknown Het
Maml2 A G 9: 13,532,903 (GRCm39) M706V Het
Mc5r G T 18: 68,472,739 (GRCm39) C366F probably damaging Het
Mlip T C 9: 77,072,124 (GRCm39) R244G probably benign Het
Muc16 T A 9: 18,496,309 (GRCm39) R6658S probably benign Het
Mup4 G T 4: 59,960,046 (GRCm39) H73N possibly damaging Het
Nf1 A G 11: 79,455,769 (GRCm39) M565V probably benign Het
Nphp1 G A 2: 127,603,137 (GRCm39) T382I possibly damaging Het
Nrcam C T 12: 44,610,809 (GRCm39) T503I possibly damaging Het
Nwd2 A T 5: 63,957,752 (GRCm39) N361Y probably damaging Het
Or10a3 A T 7: 108,480,023 (GRCm39) H263Q probably damaging Het
Or4f15 A T 2: 111,813,672 (GRCm39) L249* probably null Het
Or5ak23 A T 2: 85,244,788 (GRCm39) V145E probably damaging Het
Or6f1 A G 7: 85,970,782 (GRCm39) I126T probably damaging Het
Or7g21 A G 9: 19,032,965 (GRCm39) Y235C probably benign Het
Or8j3 A G 2: 86,028,917 (GRCm39) Y60H probably damaging Het
Or9a7 G T 6: 40,521,829 (GRCm39) A28E probably damaging Het
Orc5 A G 5: 22,728,582 (GRCm39) F308L probably benign Het
Padi1 T A 4: 140,559,715 (GRCm39) Y54F probably benign Het
Parp1 A G 1: 180,396,665 (GRCm39) K23E possibly damaging Het
Pate1 A T 9: 35,597,268 (GRCm39) V79D possibly damaging Het
Pcdh18 T C 3: 49,711,309 (GRCm39) H2R probably benign Het
Pcnx2 G A 8: 126,613,822 (GRCm39) S543F probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pnkp T A 7: 44,509,158 (GRCm39) F169L probably damaging Het
Ppp6r3 A T 19: 3,557,325 (GRCm39) N254K probably damaging Het
Psd A G 19: 46,312,893 (GRCm39) L159P probably benign Het
Ptprf A G 4: 118,088,866 (GRCm39) Y646H probably damaging Het
Rab3ip A T 10: 116,773,538 (GRCm39) S92T probably benign Het
Rabgef1 A G 5: 130,216,192 (GRCm39) probably benign Het
Ralgapa1 C A 12: 55,755,789 (GRCm39) W1129L probably damaging Het
Rhpn2 T A 7: 35,084,888 (GRCm39) L594Q probably benign Het
Rnf38 C A 4: 44,158,989 (GRCm39) probably benign Het
Ryr2 T A 13: 11,753,080 (GRCm39) H1747L possibly damaging Het
Sec16a A G 2: 26,329,729 (GRCm39) L13P unknown Het
Spef1l A T 7: 139,558,458 (GRCm39) probably null Het
Sppl3 C A 5: 115,220,394 (GRCm39) T102K probably damaging Het
Srgap2 A T 1: 131,219,351 (GRCm39) Y264* probably null Het
Stxbp2 T C 8: 3,691,151 (GRCm39) M465T Het
Sumf2 A G 5: 129,891,551 (GRCm39) K305R probably benign Het
Susd2 T A 10: 75,478,399 (GRCm39) Y59F probably benign Het
Taco1 T C 11: 105,963,443 (GRCm39) V198A probably benign Het
Tas2r136 A T 6: 132,754,869 (GRCm39) M86K possibly damaging Het
Tbc1d10c T C 19: 4,234,897 (GRCm39) E388G possibly damaging Het
Tmem132c C T 5: 127,641,123 (GRCm39) T1098I possibly damaging Het
Trim3 G T 7: 105,267,007 (GRCm39) Y457* probably null Het
Ttc38 A G 15: 85,737,062 (GRCm39) T316A probably benign Het
Ubqln4 T A 3: 88,463,217 (GRCm39) N127K probably benign Het
Wdr91 A T 6: 34,881,561 (GRCm39) F262Y probably damaging Het
Zdhhc6 A T 19: 55,291,187 (GRCm39) C343S possibly damaging Het
Zfp248 A G 6: 118,407,170 (GRCm39) C140R probably damaging Het
Zfp266 T C 9: 20,413,391 (GRCm39) T90A probably benign Het
Zfp407 A T 18: 84,577,167 (GRCm39) D1315E possibly damaging Het
Zfp644 T C 5: 106,786,143 (GRCm39) S135G probably benign Het
Zscan29 A T 2: 120,991,469 (GRCm39) I773N probably damaging Het
Zswim5 T A 4: 116,838,031 (GRCm39) V787E possibly 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
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'- TCCTTGATTTCAAACCTCAACCTAG -3'
(R):5'- AAGAGTCATGTGCTCTTTAGGGC -3'

Sequencing Primer
(F):5'- CCATGTGGACATATTCACA -3'
(R):5'- GGCTAAAGATTTCAGTAGCAAAACTC -3'
Posted On 2019-09-13