Incidental Mutation 'R8942:Abcc4'
ID 681070
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8942 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 118720104-118943631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118790732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 833 (D833E)
Ref Sequence ENSEMBL: ENSMUSP00000042186 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036554] [ENSMUST00000166646]
AlphaFold E9Q236
Predicted Effect probably damaging
Transcript: ENSMUST00000036554
AA Change: D833E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: D833E

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 probably damaging
Transcript: ENSMUST00000166646
AA Change: D758E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: D758E

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 A T 5: 81,796,568 (GRCm39) I626L probably benign Het
AI182371 A C 2: 34,990,622 (GRCm39) L25R probably damaging Het
Atp2b2 G T 6: 113,790,991 (GRCm39) Q138K probably benign Het
Atp8b5 T C 4: 43,353,658 (GRCm39) F491L probably damaging Het
Bcap29 T A 12: 31,684,353 (GRCm39) M1L probably damaging Het
C1qtnf7 A G 5: 43,773,583 (GRCm39) D294G probably benign Het
Ccdc170 C T 10: 4,484,044 (GRCm39) A290V probably benign Het
Cfhr2 A T 1: 139,741,292 (GRCm39) L228I probably benign Het
Clip4 T A 17: 72,170,768 (GRCm39) V645D probably benign Het
Cyp4a31 C T 4: 115,426,918 (GRCm39) R173W possibly damaging Het
Dis3l T C 9: 64,214,875 (GRCm39) K898R probably benign Het
Efr3b G T 12: 4,032,091 (GRCm39) H172Q possibly damaging Het
Eipr1 A T 12: 28,917,053 (GRCm39) N374Y probably damaging Het
Exoc3l4 A T 12: 111,392,002 (GRCm39) E414D possibly damaging Het
Exoc3l4 G T 12: 111,392,003 (GRCm39) V415L probably benign Het
Faap100 G T 11: 120,267,856 (GRCm39) H306N possibly damaging Het
Gapvd1 T C 2: 34,619,134 (GRCm39) T80A probably benign Het
Gen1 A G 12: 11,292,287 (GRCm39) S501P probably benign Het
Gm10643 A G 8: 84,790,799 (GRCm39) probably benign Het
Hecw1 A T 13: 14,481,395 (GRCm39) V445D probably benign Het
Hells CT C 19: 38,942,045 (GRCm39) probably null Het
Hnrnpr T G 4: 136,059,791 (GRCm39) D197E possibly damaging Het
Hspb1 G A 5: 135,916,928 (GRCm39) V6M probably damaging Het
Iglon5 A G 7: 43,126,315 (GRCm39) V196A probably benign Het
Ints2 T C 11: 86,103,720 (GRCm39) T1142A probably benign Het
Katnip T G 7: 125,449,975 (GRCm39) L1013R probably damaging Het
Kcnq2 T A 2: 180,724,244 (GRCm39) D587V probably damaging Het
Lmln C T 16: 32,901,330 (GRCm39) P242L probably damaging Het
Mapt G A 11: 104,173,307 (GRCm39) probably null Het
Mrgpre T C 7: 143,335,002 (GRCm39) Y167C Het
Mtx2 A T 2: 74,699,696 (GRCm39) I156F probably benign Het
Nipbl A T 15: 8,381,104 (GRCm39) S563T probably benign Het
Nmbr C T 10: 14,646,197 (GRCm39) S357L probably benign Het
Or10ak14 A T 4: 118,611,594 (GRCm39) I49N possibly damaging Het
Or4e1 A C 14: 52,700,692 (GRCm39) I258S probably damaging Het
Or4f14 T A 2: 111,743,207 (GRCm39) I23F probably benign Het
Or4f60 T C 2: 111,902,802 (GRCm39) N42S probably damaging Het
Or4k15b A C 14: 50,272,602 (GRCm39) L86R probably damaging Het
Or4p4 C T 2: 88,483,308 (GRCm39) L271F possibly damaging Het
Pctp A G 11: 89,875,554 (GRCm39) M203T possibly damaging Het
Pip4k2c A G 10: 127,036,084 (GRCm39) V261A probably benign Het
Pm20d1 G T 1: 131,739,785 (GRCm39) V378F possibly damaging Het
Ppcdc C T 9: 57,342,265 (GRCm39) R19H probably benign Het
Pramel26 T C 4: 143,536,861 (GRCm39) N490S probably benign Het
Sdk1 A G 5: 142,082,598 (GRCm39) E1332G probably damaging Het
Sgce G T 6: 4,730,027 (GRCm39) L66M probably benign Het
Sycp2l G T 13: 41,277,522 (GRCm39) probably null Het
Tars1 G T 15: 11,384,183 (GRCm39) H695N probably benign Het
Tdo2 A G 3: 81,876,851 (GRCm39) V107A probably benign Het
Tmem131l A T 3: 83,805,793 (GRCm39) M1550K possibly damaging Het
Ttf2 A C 3: 100,869,042 (GRCm39) S431R probably benign Het
Unc80 A G 1: 66,512,468 (GRCm39) D126G possibly damaging Het
Usp17lb C T 7: 104,490,583 (GRCm39) V115I possibly damaging Het
Vezf1 A G 11: 87,972,553 (GRCm39) T305A probably benign Het
Vmn1r45 A T 6: 89,910,876 (GRCm39) N31K probably benign Het
Wdr59 T C 8: 112,211,808 (GRCm39) K380E probably benign Het
Xylt1 T A 7: 117,233,971 (GRCm39) Y499* probably null Het
Zfp777 T C 6: 48,006,125 (GRCm39) E467G probably benign Het
Zkscan4 C A 13: 21,668,680 (GRCm39) P406Q probably benign 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
R5273:Abcc4 UTSW 14 118,832,233 (GRCm39) missense possibly damaging 0.76
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
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'- ACACGGCCTTTTGTTGAGG -3'
(R):5'- TGTCCGGCAGCATTCAGTAC -3'

Sequencing Primer
(F):5'- TGTTGAGGTAACATCACGCATCC -3'
(R):5'- TTTCCGTTGCCATTGACATG -3'
Posted On 2021-08-31