Incidental Mutation 'R1786:Abcc4'
ID 202854
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 039817-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1786 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 118720104-118943631 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 118790761 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 749 (R749C)
Ref Sequence ENSEMBL: ENSMUSP00000129677 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036554] [ENSMUST00000166646]
AlphaFold E9Q236
Predicted Effect possibly damaging
Transcript: ENSMUST00000036554
AA Change: R824C

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000042186
Gene: ENSMUSG00000032849
AA Change: R824C

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: R749C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129677
Gene: ENSMUSG00000032849
AA Change: R749C

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: ENSMUST00000226703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228848
Meta Mutation Damage Score 0.9654 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.9%
  • 10x: 95.3%
  • 20x: 92.4%
Validation Efficiency 97% (98/101)
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T A 6: 128,553,223 (GRCm39) N178I probably damaging Het
Acot11 T C 4: 106,619,232 (GRCm39) E201G probably damaging Het
Akap13 G T 7: 75,261,182 (GRCm39) A1269S probably benign Het
Aldh4a1 T C 4: 139,371,439 (GRCm39) V451A probably benign Het
Aopep T A 13: 63,357,963 (GRCm39) C656S probably benign Het
Aox3 A G 1: 58,209,002 (GRCm39) H845R probably damaging Het
Asb6 G A 2: 30,717,088 (GRCm39) R46W probably damaging Het
Bpifb6 T C 2: 153,748,781 (GRCm39) F259S probably damaging Het
Cad T A 5: 31,215,416 (GRCm39) F76I probably damaging Het
Camk2b T C 11: 5,927,880 (GRCm39) E390G probably benign Het
Cars1 C A 7: 143,146,211 (GRCm39) R71M probably damaging Het
Ccdc170 T G 10: 4,469,043 (GRCm39) I197S probably benign Het
Ccn4 G A 15: 66,778,338 (GRCm39) C53Y probably damaging Het
Cdc20b A T 13: 113,217,668 (GRCm39) K362N probably damaging Het
Cntrl CAGAG CAG 2: 35,012,818 (GRCm39) probably null Het
Cpd T C 11: 76,683,624 (GRCm39) D1045G probably benign Het
Crocc T C 4: 140,749,113 (GRCm39) D1564G probably damaging Het
Csf1r A T 18: 61,262,149 (GRCm39) M802L probably damaging Het
Dctn4 T C 18: 60,679,407 (GRCm39) probably null Het
Dnah5 A G 15: 28,313,932 (GRCm39) Q1916R probably damaging Het
Dpysl2 A G 14: 67,100,114 (GRCm39) probably benign Het
Dync2h1 A G 9: 7,081,084 (GRCm39) Y2871H probably damaging Het
Fam221b T A 4: 43,665,537 (GRCm39) H307L probably damaging Het
Foxn4 C T 5: 114,401,193 (GRCm39) D37N probably damaging Het
Gemin4 G C 11: 76,101,876 (GRCm39) P962A probably damaging Het
Gm9797 T C 10: 11,485,069 (GRCm39) noncoding transcript Het
Golim4 A T 3: 75,815,456 (GRCm39) V116D probably damaging Het
Gper1 C T 5: 139,412,477 (GRCm39) P274L probably damaging Het
Gpr132 A G 12: 112,816,023 (GRCm39) S268P probably damaging Het
Gtpbp2 T C 17: 46,472,128 (GRCm39) M21T probably benign Het
Hivep1 C T 13: 42,337,262 (GRCm39) A2447V possibly damaging Het
Ift20 G A 11: 78,430,860 (GRCm39) E68K probably damaging Het
Insrr G A 3: 87,717,879 (GRCm39) probably null Het
Kcnh8 T C 17: 53,200,961 (GRCm39) V465A probably damaging Het
Kif5c T A 2: 49,648,817 (GRCm39) probably benign Het
Kmt2a G A 9: 44,730,972 (GRCm39) probably benign Het
Lhx6 G T 2: 35,977,470 (GRCm39) C327* probably null Het
Lifr A G 15: 7,211,337 (GRCm39) D625G possibly damaging Het
Llgl1 T C 11: 60,598,066 (GRCm39) V370A probably benign Het
Lman1 A T 18: 66,124,653 (GRCm39) M362K probably damaging Het
Lmtk2 C T 5: 144,111,806 (GRCm39) T842I possibly damaging Het
Lpin3 T A 2: 160,738,729 (GRCm39) L227* probably null Het
Ltv1 C G 10: 13,058,280 (GRCm39) probably benign Het
Magel2 A T 7: 62,027,486 (GRCm39) H130L unknown Het
Mettl17 A T 14: 52,126,192 (GRCm39) probably benign Het
Mnx1 T A 5: 29,679,187 (GRCm39) S299C unknown Het
Mov10 A T 3: 104,725,432 (GRCm39) I59N possibly damaging Het
Myo7b T C 18: 32,127,950 (GRCm39) I581V probably benign Het
Ncdn T A 4: 126,639,066 (GRCm39) probably null Het
Ndufa4 A T 6: 11,900,574 (GRCm39) V37E probably benign Het
Nhsl1 T G 10: 18,400,412 (GRCm39) L546R probably benign Het
Nop9 T C 14: 55,988,599 (GRCm39) L347P probably damaging Het
Nrp1 A T 8: 129,224,997 (GRCm39) E782D probably damaging Het
Ntrk3 G A 7: 78,127,683 (GRCm39) probably benign Het
Or1j13 A G 2: 36,370,059 (GRCm39) S28P possibly damaging Het
Or2z8 A G 8: 72,812,280 (GRCm39) Y252C probably damaging Het
Or8g53 A T 9: 39,683,791 (GRCm39) C102S probably benign Het
Osbpl6 T A 2: 76,416,558 (GRCm39) I546K probably damaging Het
Pard6g T C 18: 80,160,523 (GRCm39) V212A probably damaging Het
Pknox2 A G 9: 36,820,980 (GRCm39) V294A probably damaging Het
Plekha1 T C 7: 130,493,983 (GRCm39) V106A probably benign Het
Plekha6 C A 1: 133,207,103 (GRCm39) probably null Het
Ptgdr A T 14: 45,096,036 (GRCm39) Y225* probably null Het
Ptpn22 A G 3: 103,781,368 (GRCm39) I90V probably damaging Het
Pygb C T 2: 150,658,692 (GRCm39) T372I probably damaging Het
Pzp T C 6: 128,468,124 (GRCm39) probably null Het
Qrich2 C T 11: 116,332,275 (GRCm39) G2307D probably damaging Het
Rfwd3 A T 8: 112,024,034 (GRCm39) V96E probably benign Het
Senp1 T A 15: 97,973,848 (GRCm39) T132S probably benign Het
Slc9a4 T G 1: 40,646,901 (GRCm39) probably null Het
Slfn9 T A 11: 82,872,133 (GRCm39) I868F probably damaging Het
St3gal6 T C 16: 58,296,234 (GRCm39) D137G probably damaging Het
Synj1 G T 16: 90,761,405 (GRCm39) A687D probably damaging Het
Syt4 A G 18: 31,576,496 (GRCm39) probably benign Het
Tacc1 A T 8: 25,654,509 (GRCm39) N271K probably damaging Het
Tdrd6 T C 17: 43,935,724 (GRCm39) T1775A probably benign Het
Tecpr1 T A 5: 144,145,463 (GRCm39) T595S probably benign Het
Tjp3 T A 10: 81,113,888 (GRCm39) M457L possibly damaging Het
Tmem200a T A 10: 25,869,825 (GRCm39) H148L probably damaging Het
Trappc8 A G 18: 20,967,997 (GRCm39) probably null Het
Txk T A 5: 72,853,922 (GRCm39) T472S probably damaging Het
Ubr4 T A 4: 139,151,256 (GRCm39) M1897K probably damaging Het
Uggt2 A G 14: 119,298,788 (GRCm39) L391P probably damaging Het
Uncx T C 5: 139,533,302 (GRCm39) S456P probably benign Het
Vps13b A G 15: 35,879,937 (GRCm39) Y3004C probably damaging Het
Vps35l T C 7: 118,393,798 (GRCm39) Y516H probably damaging Het
Zbtb46 C T 2: 181,033,224 (GRCm39) C479Y probably damaging Het
Zc3h7a A T 16: 10,968,469 (GRCm39) Y503* probably null Het
Zdhhc13 T A 7: 48,474,392 (GRCm39) L548Q possibly damaging Het
Zfp236 T C 18: 82,639,429 (GRCm39) M1225V probably benign Het
Zfp280d T C 9: 72,215,287 (GRCm39) F133L probably damaging Het
Zfp503 A T 14: 22,035,588 (GRCm39) C443S possibly damaging Het
Zfyve26 T A 12: 79,315,208 (GRCm39) I1423F possibly 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
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
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'- GAGGTAACATCACGCATCCC -3'
(R):5'- ACATTGCGGTTCTCTGTCCG -3'

Sequencing Primer
(F):5'- CGCATCCCCAGCCCATG -3'
(R):5'- TGTCCGGCAGCATTCAGTAC -3'
Posted On 2014-06-23