Incidental Mutation 'R6183:Abcb4'
ID 487614
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6183 (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 A at 8968718 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 352 (D352E)
Ref Sequence ENSEMBL: ENSMUSP00000142425 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003717] [ENSMUST00000196067]
AlphaFold P21440
Predicted Effect probably benign
Transcript: ENSMUST00000003717
AA Change: D352E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000003717
Gene: ENSMUSG00000042476
AA Change: D352E

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: D352E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000142425
Gene: ENSMUSG00000042476
AA Change: D352E

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: ENSMUST00000199413
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.9%
  • 20x: 94.0%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 T A 1: 25,133,451 (GRCm39) I972L probably damaging Het
Alg3 T C 16: 20,429,391 (GRCm39) Y33C probably benign Het
Atp1a3 C T 7: 24,681,177 (GRCm39) G816D probably damaging Het
Ccdc121 T C 5: 31,645,320 (GRCm39) Y358H probably damaging Het
Ces1g C T 8: 94,057,867 (GRCm39) V145M possibly damaging Het
Clip1 A G 5: 123,780,667 (GRCm39) S339P probably damaging Het
Col2a1 G T 15: 97,886,671 (GRCm39) T378N unknown Het
Dennd4b ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAG ACAGCAGCAGCAGCAGCAGCAGCAGCAG 3: 90,182,875 (GRCm39) probably benign Het
Dnah12 T A 14: 26,583,726 (GRCm39) L3207Q probably damaging Het
Efcab5 T C 11: 77,028,084 (GRCm39) T416A probably benign Het
Ephb1 A T 9: 102,072,524 (GRCm39) I85N probably damaging Het
Etnppl T C 3: 130,413,966 (GRCm39) C22R probably damaging Het
F830016B08Rik A G 18: 60,432,949 (GRCm39) T11A probably benign Het
Gm5458 C A 14: 19,649,712 (GRCm39) V171L probably damaging Het
Helb G T 10: 119,948,903 (GRCm39) probably null Het
Hnrnpll A G 17: 80,357,305 (GRCm39) V237A possibly damaging Het
Hps3 T C 3: 20,063,032 (GRCm39) T712A probably benign Het
Ibsp A G 5: 104,453,896 (GRCm39) E78G possibly damaging Het
Ighv1-62-2 G A 12: 115,410,056 (GRCm39) A111V probably damaging Het
Igkv4-63 G T 6: 69,355,108 (GRCm39) Q58K probably damaging Het
Iqcg T C 16: 32,851,293 (GRCm39) Y226C probably damaging Het
Khdc1a A T 1: 21,420,332 (GRCm39) D30V possibly damaging Het
Krtap5-5 C A 7: 141,783,524 (GRCm39) C42F unknown Het
Lmod3 T C 6: 97,229,514 (GRCm39) N7D probably damaging Het
Lvrn A G 18: 46,983,752 (GRCm39) N165S probably benign Het
Ms4a4c A G 19: 11,403,593 (GRCm39) T192A possibly damaging Het
Ncald A T 15: 37,397,476 (GRCm39) V68D probably damaging Het
Or4e5 T A 14: 52,728,188 (GRCm39) T78S probably benign Het
Pcdhgb7 A T 18: 37,885,315 (GRCm39) I162F probably damaging Het
Prokr1 T C 6: 87,565,834 (GRCm39) T4A possibly damaging Het
Qrich2 T A 11: 116,348,955 (GRCm39) probably benign Het
Rgl1 C T 1: 152,462,321 (GRCm39) E60K possibly damaging Het
Rtn1 A T 12: 72,455,265 (GRCm39) W21R probably benign Het
Scart2 A G 7: 139,875,947 (GRCm39) T404A possibly damaging Het
Spast A G 17: 74,680,353 (GRCm39) I438M probably damaging Het
Sptbn5 C T 2: 119,889,898 (GRCm39) probably benign Het
Sry C G Y: 2,662,975 (GRCm39) Q228H unknown Het
Tas1r1 A G 4: 152,116,998 (GRCm39) I212T probably damaging Het
Tbc1d1 A G 5: 64,432,768 (GRCm39) N439D probably damaging Het
Tjp2 C T 19: 24,078,155 (GRCm39) A913T probably damaging Het
Tnfrsf26 A G 7: 143,165,494 (GRCm39) L47P probably damaging Het
Unc13a A T 8: 72,097,310 (GRCm39) S1195T probably damaging Het
Usp54 T C 14: 20,602,313 (GRCm39) R1346G probably damaging Het
Vmn1r54 T A 6: 90,246,272 (GRCm39) M62K possibly damaging Het
Vmn2r125 A T 4: 156,702,364 (GRCm39) D50V probably damaging Het
Vmn2r66 T C 7: 84,644,766 (GRCm39) D548G possibly damaging Het
Vmn2r95 T A 17: 18,664,192 (GRCm39) N470K probably damaging Het
Zc3h7a A T 16: 10,965,234 (GRCm39) I633N 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
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'- TGGTTTGGCAGACTAAACAAAG -3'
(R):5'- CTCCAGTGGAGTCAGTGATTTG -3'

Sequencing Primer
(F):5'- GCTATAGAGAGAAACCCTGTCTCG -3'
(R):5'- GGAGTCAGTGATTTGATATTGCC -3'
Posted On 2017-10-10