Incidental Mutation 'R7320:Abcc3'
ID 568159
Institutional Source Beutler Lab
Gene Symbol Abcc3
Ensembl Gene ENSMUSG00000020865
Gene Name ATP-binding cassette, sub-family C member 3
Synonyms 1700019L09Rik, MRP3
MMRRC Submission 045370-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7320 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 94234121-94283823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94258471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 458 (I458T)
Ref Sequence ENSEMBL: ENSMUSP00000136343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021231] [ENSMUST00000178136]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021231
AA Change: I458T

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: I458T

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
transmembrane domain 64 86 N/A INTRINSIC
transmembrane domain 101 123 N/A INTRINSIC
transmembrane domain 130 152 N/A INTRINSIC
transmembrane domain 172 190 N/A INTRINSIC
Pfam:ABC_membrane 310 581 4.4e-43 PFAM
AAA 652 827 2.77e-10 SMART
Pfam:ABC_membrane 963 1235 3.2e-46 PFAM
AAA 1310 1495 2.66e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000178136
AA Change: I458T

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: I458T

DomainStartEndE-ValueType
transmembrane domain 35 57 N/A INTRINSIC
transmembrane domain 64 86 N/A INTRINSIC
transmembrane domain 101 123 N/A INTRINSIC
transmembrane domain 130 152 N/A INTRINSIC
transmembrane domain 172 190 N/A INTRINSIC
Pfam:ABC_membrane 310 581 4.8e-34 PFAM
AAA 652 827 2.77e-10 SMART
coiled coil region 854 883 N/A INTRINSIC
Pfam:ABC_membrane 967 1236 8.6e-48 PFAM
AAA 1311 1496 2.66e-12 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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. The specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A G 8: 56,325,749 (GRCm39) I235T possibly damaging Het
Afap1 G A 5: 36,105,567 (GRCm39) V174I probably damaging Het
Ak8 A T 2: 28,703,004 (GRCm39) D456V probably damaging Het
Alb T C 5: 90,612,846 (GRCm39) probably null Het
Alox12 C T 11: 70,145,298 (GRCm39) A92T probably benign Het
Arhgap23 T C 11: 97,342,371 (GRCm39) S218P probably benign Het
Blm G A 7: 80,105,102 (GRCm39) Q1389* probably null Het
C1ql4 A T 15: 98,985,605 (GRCm39) V2E unknown Het
Casp12 A G 9: 5,348,897 (GRCm39) probably null Het
Ccdc73 A T 2: 104,829,521 (GRCm39) I1065F possibly damaging Het
Ccdc83 C T 7: 89,873,242 (GRCm39) G371D probably damaging Het
Cfap65 A G 1: 74,965,763 (GRCm39) S416P probably damaging Het
Cftr T A 6: 18,319,012 (GRCm39) C1351S probably damaging Het
Clcn4 A T 7: 7,294,827 (GRCm39) H311Q probably benign Het
Cldn13 T G 5: 134,943,874 (GRCm39) I104L probably benign Het
Cul9 A G 17: 46,821,835 (GRCm39) V1880A possibly damaging Het
Ddx17 A T 15: 79,416,105 (GRCm39) D407E probably damaging Het
Ddx28 G A 8: 106,737,957 (GRCm39) P34S probably damaging Het
Dnah5 A T 15: 28,270,616 (GRCm39) N973Y probably null Het
Dnai4 A T 4: 102,907,384 (GRCm39) I634N possibly damaging Het
Dock10 A G 1: 80,527,421 (GRCm39) probably null Het
Dock3 T C 9: 106,772,723 (GRCm39) D510G probably benign Het
Dst T A 1: 34,230,175 (GRCm39) D2589E probably benign Het
E2f7 T C 10: 110,599,991 (GRCm39) Y249H not run Het
Eef2kmt T C 16: 5,068,373 (GRCm39) Y69C possibly damaging Het
Elapor1 T A 3: 108,371,619 (GRCm39) K650* probably null Het
Erlin1 T C 19: 44,047,504 (GRCm39) Y139C probably damaging Het
Exog G T 9: 119,291,544 (GRCm39) V274L possibly damaging Het
Fam83e G A 7: 45,371,896 (GRCm39) V98M probably benign Het
Fras1 C T 5: 96,857,745 (GRCm39) T2013I probably benign Het
Gart G T 16: 91,418,569 (GRCm39) A970E probably benign Het
Gga2 T A 7: 121,601,326 (GRCm39) H259L probably benign Het
Glis3 C A 19: 28,508,998 (GRCm39) V329F probably damaging Het
Gm6356 T A 14: 6,972,923 (GRCm38) N53I probably damaging Het
Golgb1 C A 16: 36,736,313 (GRCm39) C1894* probably null Het
Ifi203 T C 1: 173,756,733 (GRCm39) N350S unknown Het
Isy1 T A 6: 87,810,688 (GRCm39) R55S unknown Het
Itsn1 A T 16: 91,636,587 (GRCm39) D678V unknown Het
Lhcgr T A 17: 89,049,506 (GRCm39) R673S probably benign Het
Lnx2 C A 5: 146,956,943 (GRCm39) R601L possibly damaging Het
Map4 A G 9: 109,910,585 (GRCm39) T1093A probably benign Het
Minar1 A G 9: 89,483,679 (GRCm39) S573P probably benign Het
Mink1 A G 11: 70,489,899 (GRCm39) K92E probably benign Het
Moxd1 A G 10: 24,177,363 (GRCm39) I560V probably benign Het
Mrc2 C A 11: 105,220,061 (GRCm39) D327E possibly damaging Het
Notch2 A G 3: 98,038,643 (GRCm39) E1262G possibly damaging Het
Or2g1 T A 17: 38,107,248 (GRCm39) N304K probably benign Het
Or4k48 A G 2: 111,476,297 (GRCm39) L15S probably benign Het
Or52d3 C A 7: 104,229,645 (GRCm39) S264* probably null Het
Or5an1 G A 19: 12,261,180 (GRCm39) G256D possibly damaging Het
Or5b120 T A 19: 13,480,544 (GRCm39) M279K possibly damaging Het
Or5j3 GTACTTTTT GT 2: 86,128,338 (GRCm39) probably null Het
Or5m13 A T 2: 85,748,718 (GRCm39) I150F probably benign Het
Or6c5b A T 10: 129,245,654 (GRCm39) T140S possibly damaging Het
Pcbp2 T A 15: 102,381,782 (GRCm39) V5E probably damaging Het
Pcp4l1 G A 1: 171,002,034 (GRCm39) A42V possibly damaging Het
Pgghg A T 7: 140,522,953 (GRCm39) Y104F probably benign Het
Plscr2 T C 9: 92,173,193 (GRCm39) probably null Het
Ppfibp1 C T 6: 146,879,551 (GRCm39) A25V probably damaging Het
Ptgfr C T 3: 151,541,034 (GRCm39) G158D probably benign Het
Ptgs2 T C 1: 149,978,446 (GRCm39) F186S probably damaging Het
Ptpn14 A G 1: 189,564,956 (GRCm39) E181G probably benign Het
Rpgrip1 A G 14: 52,368,673 (GRCm39) K291E possibly damaging Het
Rtn4rl1 T C 11: 75,085,122 (GRCm39) probably null Het
Sema3b T A 9: 107,478,141 (GRCm39) M415L probably benign Het
Sh3bp4 A G 1: 89,073,216 (GRCm39) E688G probably damaging Het
Slco6c1 G A 1: 97,055,887 (GRCm39) R5C possibly damaging Het
Slmap A G 14: 26,181,227 (GRCm39) F369L possibly damaging Het
Sphk2 T C 7: 45,361,894 (GRCm39) N181S possibly damaging Het
Sqor A G 2: 122,641,730 (GRCm39) T235A probably benign Het
St13 A G 15: 81,273,854 (GRCm39) L80P probably damaging Het
St3gal6 A G 16: 58,314,074 (GRCm39) Y20H probably benign Het
Sun1 T G 5: 139,234,239 (GRCm39) Y899D probably damaging Het
Synm C T 7: 67,385,128 (GRCm39) E845K possibly damaging Het
Tg A T 15: 66,566,633 (GRCm39) D1227V possibly damaging Het
Thbs1 A G 2: 117,945,438 (GRCm39) N306D possibly damaging Het
Tmcc3 A T 10: 94,414,357 (GRCm39) N51Y possibly damaging Het
Usp4 A G 9: 108,265,505 (GRCm39) D856G probably benign Het
Vil1 G A 1: 74,457,603 (GRCm39) A79T probably damaging Het
Vmn1r119 T A 7: 20,746,271 (GRCm39) H37L probably damaging Het
Vmn2r110 A T 17: 20,816,316 (GRCm39) M69K probably benign Het
Ywhaq A G 12: 21,444,982 (GRCm39) L221P probably damaging Het
Zfp142 G A 1: 74,609,167 (GRCm39) Q1543* probably null Het
Zfp384 T A 6: 125,001,793 (GRCm39) M146K possibly damaging Het
Other mutations in Abcc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01147:Abcc3 APN 11 94,234,611 (GRCm39) splice site probably benign
IGL01154:Abcc3 APN 11 94,250,058 (GRCm39) splice site probably benign
IGL01353:Abcc3 APN 11 94,242,934 (GRCm39) missense possibly damaging 0.88
IGL02553:Abcc3 APN 11 94,242,750 (GRCm39) missense probably damaging 1.00
IGL02795:Abcc3 APN 11 94,252,468 (GRCm39) splice site probably benign
IGL02928:Abcc3 APN 11 94,252,132 (GRCm39) missense possibly damaging 0.49
IGL02964:Abcc3 APN 11 94,242,636 (GRCm39) missense possibly damaging 0.93
IGL03006:Abcc3 APN 11 94,259,421 (GRCm39) missense probably benign 0.18
IGL03345:Abcc3 APN 11 94,250,163 (GRCm39) missense probably damaging 1.00
R0200:Abcc3 UTSW 11 94,245,900 (GRCm39) missense probably damaging 0.96
R0377:Abcc3 UTSW 11 94,265,922 (GRCm39) missense possibly damaging 0.90
R0812:Abcc3 UTSW 11 94,266,028 (GRCm39) splice site probably benign
R1269:Abcc3 UTSW 11 94,248,210 (GRCm39) missense probably damaging 1.00
R1270:Abcc3 UTSW 11 94,248,210 (GRCm39) missense probably damaging 1.00
R1375:Abcc3 UTSW 11 94,243,042 (GRCm39) missense possibly damaging 0.46
R1506:Abcc3 UTSW 11 94,248,144 (GRCm39) missense possibly damaging 0.89
R1525:Abcc3 UTSW 11 94,252,062 (GRCm39) missense probably benign 0.00
R1842:Abcc3 UTSW 11 94,250,438 (GRCm39) missense probably benign 0.00
R1868:Abcc3 UTSW 11 94,254,889 (GRCm39) missense probably benign 0.06
R2069:Abcc3 UTSW 11 94,255,243 (GRCm39) missense probably damaging 1.00
R2132:Abcc3 UTSW 11 94,258,426 (GRCm39) missense probably benign 0.18
R2257:Abcc3 UTSW 11 94,254,420 (GRCm39) missense probably damaging 1.00
R2395:Abcc3 UTSW 11 94,248,132 (GRCm39) missense possibly damaging 0.90
R2930:Abcc3 UTSW 11 94,252,636 (GRCm39) missense probably damaging 0.99
R3081:Abcc3 UTSW 11 94,247,802 (GRCm39) missense probably damaging 1.00
R3824:Abcc3 UTSW 11 94,259,446 (GRCm39) critical splice acceptor site probably null
R4385:Abcc3 UTSW 11 94,259,065 (GRCm39) missense probably damaging 0.99
R4425:Abcc3 UTSW 11 94,236,870 (GRCm39) missense probably damaging 0.98
R4464:Abcc3 UTSW 11 94,249,612 (GRCm39) missense probably benign 0.01
R4696:Abcc3 UTSW 11 94,241,817 (GRCm39) missense probably benign 0.01
R4877:Abcc3 UTSW 11 94,258,421 (GRCm39) missense probably damaging 0.98
R5172:Abcc3 UTSW 11 94,266,434 (GRCm39) missense probably damaging 1.00
R5586:Abcc3 UTSW 11 94,255,247 (GRCm39) missense probably damaging 1.00
R5682:Abcc3 UTSW 11 94,283,723 (GRCm39) missense probably benign 0.31
R5719:Abcc3 UTSW 11 94,241,894 (GRCm39) missense probably damaging 1.00
R5816:Abcc3 UTSW 11 94,234,563 (GRCm39) missense probably damaging 0.99
R5919:Abcc3 UTSW 11 94,248,132 (GRCm39) missense possibly damaging 0.90
R6222:Abcc3 UTSW 11 94,259,431 (GRCm39) missense probably benign 0.21
R6264:Abcc3 UTSW 11 94,264,824 (GRCm39) missense probably damaging 0.99
R6526:Abcc3 UTSW 11 94,250,198 (GRCm39) missense probably benign 0.21
R6782:Abcc3 UTSW 11 94,249,776 (GRCm39) missense probably damaging 1.00
R6889:Abcc3 UTSW 11 94,266,381 (GRCm39) missense possibly damaging 0.49
R6953:Abcc3 UTSW 11 94,265,661 (GRCm39) missense probably benign 0.03
R7054:Abcc3 UTSW 11 94,256,051 (GRCm39) missense probably benign 0.01
R7131:Abcc3 UTSW 11 94,255,857 (GRCm39) missense probably damaging 1.00
R7210:Abcc3 UTSW 11 94,264,767 (GRCm39) missense probably benign 0.03
R7283:Abcc3 UTSW 11 94,247,873 (GRCm39) missense probably benign 0.44
R7284:Abcc3 UTSW 11 94,247,873 (GRCm39) missense probably benign 0.44
R7285:Abcc3 UTSW 11 94,247,873 (GRCm39) missense probably benign 0.44
R7287:Abcc3 UTSW 11 94,247,873 (GRCm39) missense probably benign 0.44
R7450:Abcc3 UTSW 11 94,252,521 (GRCm39) missense probably damaging 1.00
R7469:Abcc3 UTSW 11 94,259,014 (GRCm39) missense probably damaging 1.00
R7794:Abcc3 UTSW 11 94,249,697 (GRCm39) missense probably benign 0.12
R7851:Abcc3 UTSW 11 94,250,486 (GRCm39) nonsense probably null
R7861:Abcc3 UTSW 11 94,248,075 (GRCm39) missense probably null 1.00
R8036:Abcc3 UTSW 11 94,236,818 (GRCm39) missense possibly damaging 0.47
R8214:Abcc3 UTSW 11 94,254,344 (GRCm39) missense probably damaging 0.96
R8447:Abcc3 UTSW 11 94,254,886 (GRCm39) missense possibly damaging 0.49
R8558:Abcc3 UTSW 11 94,242,623 (GRCm39) critical splice donor site probably null
R8733:Abcc3 UTSW 11 94,249,627 (GRCm39) missense probably damaging 0.97
R8821:Abcc3 UTSW 11 94,241,787 (GRCm39) missense probably damaging 1.00
R8831:Abcc3 UTSW 11 94,241,787 (GRCm39) missense probably damaging 1.00
R9187:Abcc3 UTSW 11 94,255,913 (GRCm39) missense probably damaging 1.00
R9315:Abcc3 UTSW 11 94,265,576 (GRCm39) missense possibly damaging 0.72
R9519:Abcc3 UTSW 11 94,264,805 (GRCm39) missense possibly damaging 0.52
R9658:Abcc3 UTSW 11 94,263,703 (GRCm39) missense possibly damaging 0.53
R9686:Abcc3 UTSW 11 94,247,867 (GRCm39) missense probably benign 0.30
R9722:Abcc3 UTSW 11 94,250,072 (GRCm39) missense probably damaging 0.99
R9723:Abcc3 UTSW 11 94,250,725 (GRCm39) missense probably benign 0.03
X0064:Abcc3 UTSW 11 94,254,324 (GRCm39) missense probably benign 0.00
Z1176:Abcc3 UTSW 11 94,252,101 (GRCm39) missense probably benign 0.01
Z1177:Abcc3 UTSW 11 94,247,834 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTTCCCCATTCAGTAGAGGGAG -3'
(R):5'- ATGCCAACACAACCAGTTTG -3'

Sequencing Primer
(F):5'- CCCATTCAGTAGAGGGAGTGGAG -3'
(R):5'- CTTCTCCAAGGGTGCTACTGG -3'
Posted On 2019-06-26