Incidental Mutation 'R4944:Abcb4'
ID 383335
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 042541-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4944 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 8943717-9009231 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 8984327 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 0.9487 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl7 C G 4: 148,584,534 (GRCm39) Q71H probably damaging Het
Arhgap30 A T 1: 171,229,822 (GRCm39) N176Y probably damaging Het
Armc9 T A 1: 86,202,256 (GRCm39) S805T probably damaging Het
Atxn1 T G 13: 45,720,407 (GRCm39) H496P probably damaging Het
Cabin1 C T 10: 75,557,197 (GRCm39) G1147D probably damaging Het
Cabin1 A G 10: 75,575,255 (GRCm39) S597P probably damaging Het
Catsperd T C 17: 56,969,744 (GRCm39) S613P probably damaging Het
Cdh2 A G 18: 16,783,466 (GRCm39) Y88H probably damaging Het
Cntn1 C A 15: 92,126,549 (GRCm39) P47Q probably damaging Het
Col11a2 T C 17: 34,261,164 (GRCm39) L38P possibly damaging Het
Col5a2 T G 1: 45,415,855 (GRCm39) I1431L possibly damaging Het
Csmd1 C T 8: 16,048,772 (GRCm39) G2310D probably damaging Het
Dhcr7 T A 7: 143,391,528 (GRCm39) I39N probably damaging Het
Dnajc13 C T 9: 104,044,586 (GRCm39) probably benign Het
Drgx G T 14: 32,330,206 (GRCm39) Q136H probably damaging Het
Folr2 T C 7: 101,489,497 (GRCm39) probably null Het
Galnt11 T C 5: 25,470,336 (GRCm39) I595T probably damaging Het
Gp5 G A 16: 30,128,326 (GRCm39) A116V possibly damaging Het
Gpn3 T C 5: 122,520,303 (GRCm39) probably benign Het
Gprin3 T C 6: 59,331,644 (GRCm39) N221S probably benign Het
Hfm1 T C 5: 107,022,079 (GRCm39) E989G possibly damaging Het
Ints1 T C 5: 139,743,847 (GRCm39) probably null Het
Josd2 T C 7: 44,120,592 (GRCm39) S110P probably damaging Het
Kat14 C A 2: 144,217,873 (GRCm39) T123K probably damaging Het
Lamtor1 C T 7: 101,558,971 (GRCm39) T48I probably damaging Het
Lrrc24 A G 15: 76,602,546 (GRCm39) L113P probably damaging Het
Lrrc37 T C 11: 103,504,286 (GRCm39) T2561A possibly damaging Het
Mog T C 17: 37,331,433 (GRCm39) E89G probably damaging Het
Mon2 A G 10: 122,874,364 (GRCm39) probably null Het
Mtx1 T C 3: 89,121,205 (GRCm39) Y143C probably benign Het
Nacad T C 11: 6,548,507 (GRCm39) E1409G possibly damaging Het
Ndst3 T C 3: 123,400,676 (GRCm39) H410R probably damaging Het
Nkx6-2 T C 7: 139,161,486 (GRCm39) E233G possibly damaging Het
Oas1h A G 5: 121,000,846 (GRCm39) E152G probably damaging Het
Or8g22 A G 9: 38,958,158 (GRCm39) S186P probably damaging Het
Ovgp1 T C 3: 105,887,269 (GRCm39) F222L possibly damaging Het
Pkhd1 T C 1: 20,358,429 (GRCm39) S2716G probably null Het
Pla2g4e T C 2: 120,001,718 (GRCm39) T644A probably benign Het
Plxnd1 A G 6: 115,932,726 (GRCm39) I1918T probably damaging Het
Psmg1 A T 16: 95,790,812 (GRCm39) probably benign Het
Ptprd G A 4: 76,047,136 (GRCm39) R364C probably damaging Het
Rgs22 T C 15: 36,026,088 (GRCm39) I945V possibly damaging Het
Rgs7bp T C 13: 105,088,072 (GRCm39) N234S probably benign Het
Rrp7a T C 15: 83,004,010 (GRCm39) probably benign Het
Scg2 T A 1: 79,414,193 (GRCm39) R177* probably null Het
Sema4c C A 1: 36,589,392 (GRCm39) C578F probably damaging Het
Slc1a5 T A 7: 16,531,668 (GRCm39) probably benign Het
Slc5a3 A G 16: 91,875,571 (GRCm39) T543A possibly damaging Het
Slx4ip T A 2: 136,888,687 (GRCm39) F123I probably benign Het
Smtn C T 11: 3,472,916 (GRCm39) R737H probably damaging Het
Stox2 A G 8: 47,866,300 (GRCm39) I14T possibly damaging Het
Stradb T C 1: 59,019,599 (GRCm39) F43L probably benign Het
Szt2 T C 4: 118,245,866 (GRCm39) D1029G probably benign Het
Taar6 T C 10: 23,860,613 (GRCm39) Y311C probably damaging Het
Tcea3 A T 4: 135,995,404 (GRCm39) N249I probably damaging Het
Tecta A G 9: 42,241,573 (GRCm39) M2134T probably benign Het
Tg G A 15: 66,636,186 (GRCm39) G591D probably damaging Het
Tm4sf20 T A 1: 82,746,084 (GRCm39) I19F probably benign Het
Top2a T C 11: 98,888,676 (GRCm39) K1262E probably benign Het
Ube2r2 A G 4: 41,190,742 (GRCm39) probably benign Het
Usp29 T C 7: 6,964,927 (GRCm39) S257P possibly damaging Het
Usp40 T C 1: 87,880,077 (GRCm39) N1038S probably benign Het
Utp25 A T 1: 192,797,262 (GRCm39) M530K probably damaging Het
Vmn1r121 C T 7: 20,831,538 (GRCm39) E301K probably benign Het
Vmn2r49 T A 7: 9,722,959 (GRCm39) H105L probably benign Het
Zgrf1 C T 3: 127,355,517 (GRCm39) Q248* probably null 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
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'- AGGAAGCCAGATCCTGTCAG -3'
(R):5'- TAGACTAGCTTTATTATCCAGGGAC -3'

Sequencing Primer
(F):5'- GCCAGATCCTGTCAGAAGAATTTG -3'
(R):5'- CCCCATGGAAATTTATTTTTAATCGG -3'
Posted On 2016-04-27