Incidental Mutation 'R5273:Abcc4'
ID 403784
Institutional Source Beutler Lab
Gene Symbol Abcc4
Ensembl Gene ENSMUSG00000032849
Gene Name ATP-binding cassette, sub-family C member 4
Synonyms MOAT-B, MRP4, D630049P08Rik
MMRRC Submission 042862-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5273 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 118720104-118943631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 118832233 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 799 (N799S)
Ref Sequence ENSEMBL: ENSMUSP00000042186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036554] [ENSMUST00000166646]
AlphaFold E9Q236
Predicted Effect possibly damaging
Transcript: ENSMUST00000036554
AA Change: N799S

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: N799S

DomainStartEndE-ValueType
Pfam:ABC_membrane 92 365 4.5e-37 PFAM
AAA 437 610 5.71e-12 SMART
Pfam:ABC_membrane 714 993 4.2e-47 PFAM
AAA 1067 1251 2.02e-12 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000166646
AA Change: N724S

PolyPhen 2 Score 0.692 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: N724S

DomainStartEndE-ValueType
Pfam:ABC_membrane 98 290 4.1e-22 PFAM
AAA 362 535 5.71e-12 SMART
Pfam:ABC_membrane 638 922 4.6e-39 PFAM
AAA 992 1176 2.02e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000184391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228848
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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 MRP subfamily which is involved in multi-drug resistance. This family member plays a role in cellular detoxification as a pump for its substrate, organic anions. It may also function in prostaglandin-mediated cAMP signaling in ciliogenesis. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Homozygous null mice are viable and fertile. Homozygotes for one null allele display impaired organic anion transport in the blood-brain and blood-cerebrospinal fluid barriers and kidney. Homozygotes for a second null allele display hypoalgesia and abnormal PGE2 physiology. [provided by MGI curators]
Allele List at MGI

All alleles(143) : Targeted, knock-out(2) Gene trapped(141)

Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap20 A G 9: 51,759,916 (GRCm39) N589S probably damaging Het
Armc10 C T 5: 21,858,426 (GRCm39) A157V possibly damaging Het
Atp2b2 A G 6: 113,736,193 (GRCm39) L958P probably damaging Het
Bhmt2 G A 13: 93,803,086 (GRCm39) A149V possibly damaging Het
Ccdc7a CATCAGCTGATAT CAT 8: 129,788,090 (GRCm39) probably null Het
Cntnap4 A G 8: 113,460,070 (GRCm39) D141G probably damaging Het
Cplane1 T C 15: 8,273,825 (GRCm39) S2603P probably damaging Het
Cplane1 T C 15: 8,292,422 (GRCm39) S3012P unknown Het
Dis3 A G 14: 99,336,242 (GRCm39) V88A probably benign Het
Dnajc21 A T 15: 10,454,893 (GRCm39) C316S probably damaging Het
Dnhd1 A G 7: 105,363,689 (GRCm39) T4084A probably damaging Het
Dock3 A C 9: 106,777,904 (GRCm39) probably null Het
Eml5 T C 12: 98,756,947 (GRCm39) H1894R probably damaging Het
Galc T C 12: 98,218,330 (GRCm39) Y174C probably damaging Het
Gm4841 C T 18: 60,403,815 (GRCm39) V93I probably benign Het
Gm7995 T C 14: 42,133,413 (GRCm39) Y98H probably damaging Het
Gnrhr T A 5: 86,330,105 (GRCm39) H305L possibly damaging Het
Gpr179 A T 11: 97,238,256 (GRCm39) F323I probably damaging Het
Kdm6b G T 11: 69,295,027 (GRCm39) P1080Q unknown Het
Man2a1 C T 17: 65,040,780 (GRCm39) T126I probably damaging Het
Mdm4 G A 1: 132,922,320 (GRCm39) T274M probably benign Het
Mug1 T A 6: 121,850,748 (GRCm39) V748E probably damaging Het
Nav3 A T 10: 109,528,899 (GRCm39) probably null Het
Nhsl3 T C 4: 129,118,005 (GRCm39) T208A possibly damaging Het
Or8d6 T C 9: 39,853,853 (GRCm39) V99A probably benign Het
Or8g36 A G 9: 39,422,795 (GRCm39) S74P possibly damaging Het
Pcdhb1 T C 18: 37,398,766 (GRCm39) V239A probably benign Het
Ppic T A 18: 53,542,330 (GRCm39) H126L probably damaging Het
Sdk1 T C 5: 141,984,583 (GRCm39) F463L probably damaging Het
Shroom1 A G 11: 53,354,671 (GRCm39) E197G possibly damaging Het
Slc22a14 A G 9: 118,999,704 (GRCm39) S496P probably benign Het
Slc27a1 G A 8: 72,036,900 (GRCm39) G379S probably benign Het
Slco1a5 T C 6: 142,187,824 (GRCm39) E505G probably benign Het
Snrpe A C 1: 133,537,518 (GRCm39) probably benign Het
Sp100 G T 1: 85,636,825 (GRCm39) V299F possibly damaging Het
Stard9 A G 2: 120,535,568 (GRCm39) S3942G possibly damaging Het
Ttn A G 2: 76,644,948 (GRCm39) V12969A probably damaging Het
Txndc11 T C 16: 10,946,487 (GRCm39) Q108R probably benign Het
Wnk4 A T 11: 101,154,695 (GRCm39) I295F probably damaging Het
Other mutations in Abcc4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00768:Abcc4 APN 14 118,766,409 (GRCm39) missense probably benign 0.03
IGL01152:Abcc4 APN 14 118,836,797 (GRCm39) missense probably damaging 1.00
IGL01511:Abcc4 APN 14 118,836,753 (GRCm39) missense probably benign 0.03
IGL01604:Abcc4 APN 14 118,765,406 (GRCm39) missense possibly damaging 0.94
IGL01725:Abcc4 APN 14 118,738,241 (GRCm39) missense probably damaging 1.00
IGL01828:Abcc4 APN 14 118,790,691 (GRCm39) splice site probably benign
IGL02174:Abcc4 APN 14 118,738,154 (GRCm39) missense probably damaging 0.98
IGL02391:Abcc4 APN 14 118,790,764 (GRCm39) missense probably damaging 1.00
IGL02500:Abcc4 APN 14 118,856,338 (GRCm39) missense possibly damaging 0.47
IGL02598:Abcc4 APN 14 118,905,781 (GRCm39) nonsense probably null
IGL02668:Abcc4 APN 14 118,848,887 (GRCm39) missense probably damaging 1.00
IGL02708:Abcc4 APN 14 118,738,213 (GRCm39) missense probably damaging 1.00
IGL02859:Abcc4 APN 14 118,753,912 (GRCm39) missense probably damaging 1.00
IGL03249:Abcc4 APN 14 118,865,118 (GRCm39) splice site probably benign
IGL03257:Abcc4 APN 14 118,852,623 (GRCm39) missense probably benign 0.01
IGL03298:Abcc4 APN 14 118,848,880 (GRCm39) missense probably damaging 1.00
1mM(1):Abcc4 UTSW 14 118,867,068 (GRCm39) nonsense probably null
R0743:Abcc4 UTSW 14 118,790,700 (GRCm39) missense possibly damaging 0.90
R0884:Abcc4 UTSW 14 118,790,700 (GRCm39) missense possibly damaging 0.90
R1139:Abcc4 UTSW 14 118,738,252 (GRCm39) missense possibly damaging 0.56
R1238:Abcc4 UTSW 14 118,835,051 (GRCm39) splice site probably benign
R1588:Abcc4 UTSW 14 118,771,484 (GRCm39) missense probably benign 0.01
R1678:Abcc4 UTSW 14 118,832,306 (GRCm39) missense probably benign 0.08
R1785:Abcc4 UTSW 14 118,790,761 (GRCm39) missense probably damaging 0.99
R1786:Abcc4 UTSW 14 118,790,761 (GRCm39) missense probably damaging 0.99
R1961:Abcc4 UTSW 14 118,848,871 (GRCm39) missense possibly damaging 0.92
R1961:Abcc4 UTSW 14 118,848,868 (GRCm39) missense probably damaging 0.98
R1993:Abcc4 UTSW 14 118,763,694 (GRCm39) missense probably benign 0.02
R2025:Abcc4 UTSW 14 118,790,737 (GRCm39) missense probably benign 0.13
R3613:Abcc4 UTSW 14 118,864,863 (GRCm39) critical splice donor site probably null
R3864:Abcc4 UTSW 14 118,853,827 (GRCm39) missense probably benign
R4274:Abcc4 UTSW 14 118,867,034 (GRCm39) missense probably damaging 1.00
R4459:Abcc4 UTSW 14 118,836,805 (GRCm39) missense probably benign 0.11
R4601:Abcc4 UTSW 14 118,869,575 (GRCm39) missense probably benign 0.00
R4665:Abcc4 UTSW 14 118,766,414 (GRCm39) missense probably benign
R4678:Abcc4 UTSW 14 118,865,103 (GRCm39) missense probably damaging 0.97
R4771:Abcc4 UTSW 14 118,721,796 (GRCm39) missense probably benign 0.00
R4962:Abcc4 UTSW 14 118,905,811 (GRCm39) missense probably benign 0.33
R4997:Abcc4 UTSW 14 118,753,915 (GRCm39) nonsense probably null
R5526:Abcc4 UTSW 14 118,868,449 (GRCm39) missense probably benign 0.10
R5652:Abcc4 UTSW 14 118,856,339 (GRCm39) missense probably benign 0.00
R5820:Abcc4 UTSW 14 118,841,607 (GRCm39) missense probably benign 0.14
R5873:Abcc4 UTSW 14 118,763,702 (GRCm39) missense probably benign 0.00
R6008:Abcc4 UTSW 14 118,727,978 (GRCm39) missense possibly damaging 0.63
R6080:Abcc4 UTSW 14 118,906,462 (GRCm39) missense possibly damaging 0.75
R6222:Abcc4 UTSW 14 118,767,368 (GRCm39) missense probably damaging 1.00
R6919:Abcc4 UTSW 14 118,832,306 (GRCm39) missense probably benign 0.08
R6931:Abcc4 UTSW 14 118,765,400 (GRCm39) missense probably damaging 0.99
R7013:Abcc4 UTSW 14 118,763,755 (GRCm39) missense probably benign
R7055:Abcc4 UTSW 14 118,832,197 (GRCm39) nonsense probably null
R7146:Abcc4 UTSW 14 118,852,593 (GRCm39) missense probably damaging 1.00
R7365:Abcc4 UTSW 14 118,865,066 (GRCm39) missense probably damaging 1.00
R7402:Abcc4 UTSW 14 118,943,487 (GRCm39) missense probably damaging 1.00
R7438:Abcc4 UTSW 14 118,853,858 (GRCm39) missense probably benign 0.01
R7528:Abcc4 UTSW 14 118,767,317 (GRCm39) missense probably damaging 0.99
R7674:Abcc4 UTSW 14 118,848,899 (GRCm39) missense probably damaging 1.00
R7769:Abcc4 UTSW 14 118,852,682 (GRCm39) frame shift probably null
R7823:Abcc4 UTSW 14 118,771,484 (GRCm39) missense probably benign 0.01
R7847:Abcc4 UTSW 14 118,864,892 (GRCm39) missense probably damaging 1.00
R7989:Abcc4 UTSW 14 118,836,772 (GRCm39) missense probably benign 0.05
R8044:Abcc4 UTSW 14 118,852,682 (GRCm39) frame shift probably null
R8214:Abcc4 UTSW 14 118,738,253 (GRCm39) missense probably benign 0.35
R8264:Abcc4 UTSW 14 118,832,254 (GRCm39) missense possibly damaging 0.81
R8309:Abcc4 UTSW 14 118,853,804 (GRCm39) missense probably damaging 1.00
R8369:Abcc4 UTSW 14 118,864,869 (GRCm39) missense probably benign 0.02
R8701:Abcc4 UTSW 14 118,836,785 (GRCm39) missense probably benign
R8942:Abcc4 UTSW 14 118,790,732 (GRCm39) missense probably damaging 1.00
R8994:Abcc4 UTSW 14 118,771,556 (GRCm39) critical splice acceptor site probably null
R9008:Abcc4 UTSW 14 118,849,162 (GRCm39) missense probably damaging 0.98
R9100:Abcc4 UTSW 14 118,853,800 (GRCm39) missense possibly damaging 0.65
R9119:Abcc4 UTSW 14 118,868,442 (GRCm39) missense probably benign 0.16
R9267:Abcc4 UTSW 14 118,869,657 (GRCm39) intron probably benign
Predicted Primers PCR Primer
(F):5'- GCTTACTGTAGAGAATGGGCAG -3'
(R):5'- TGCATCGTCTTTATGTAGAACCTAG -3'

Sequencing Primer
(F):5'- CAGACACGCAGAGGGACTTC -3'
(R):5'- ACCTAGATGTTTATGGGGAAGATC -3'
Posted On 2016-07-22