Incidental Mutation 'R0200:Abcc3'
ID 23587
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 038457-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0200 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 94234121-94283823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 94245900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1245 (D1245G)
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: D1244G

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: D1244G

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 noncoding transcript
Transcript: ENSMUST00000140985
Predicted Effect probably damaging
Transcript: ENSMUST00000178136
AA Change: D1245G

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: D1245G

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: 98.8%
  • 3x: 97.8%
  • 10x: 94.7%
  • 20x: 86.2%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,336,502 (GRCm39) K466E probably damaging Het
Adam12 T C 7: 133,576,145 (GRCm39) probably null Het
Akap11 A G 14: 78,748,193 (GRCm39) V1398A probably benign Het
Ank1 T G 8: 23,586,828 (GRCm39) L461R probably damaging Het
Ankfn1 T C 11: 89,332,792 (GRCm39) S402G possibly damaging Het
Arhgef40 A C 14: 52,234,431 (GRCm39) E911D probably damaging Het
Atp2b1 C T 10: 98,815,676 (GRCm39) Q107* probably null Het
Cacng3 T A 7: 122,271,008 (GRCm39) C4* probably null Het
Cds1 G A 5: 101,962,299 (GRCm39) V305M probably damaging Het
Cecr2 T G 6: 120,738,758 (GRCm39) F1162V probably damaging Het
Cfap70 A T 14: 20,498,631 (GRCm39) Y19N probably damaging Het
Chrm5 A G 2: 112,311,065 (GRCm39) V17A probably benign Het
Col20a1 T C 2: 180,642,231 (GRCm39) I714T probably damaging Het
Cpeb2 T A 5: 43,419,119 (GRCm39) M156K possibly damaging Het
Cstdc6 T C 16: 36,143,386 (GRCm39) probably null Het
Defb25 C A 2: 152,464,332 (GRCm39) V71L probably benign Het
Dhx35 A T 2: 158,671,543 (GRCm39) M325L probably benign Het
Dhx57 A T 17: 80,558,902 (GRCm39) L1019H probably damaging Het
Dnah6 T A 6: 73,046,403 (GRCm39) D3195V probably damaging Het
Dph5 A G 3: 115,722,352 (GRCm39) S277G probably benign Het
Dpm1 C A 2: 168,065,075 (GRCm39) probably null Het
Dsg1a A T 18: 20,473,995 (GRCm39) M1023L probably benign Het
Egf A G 3: 129,499,882 (GRCm39) Y252H probably benign Het
Egf A G 3: 129,531,198 (GRCm39) S126P probably damaging Het
Enam T C 5: 88,640,886 (GRCm39) W183R possibly damaging Het
Foxn1 T C 11: 78,251,866 (GRCm39) Y455C probably damaging Het
Iars1 A T 13: 49,879,678 (GRCm39) D983V possibly damaging Het
Ikzf4 C A 10: 128,470,545 (GRCm39) G325V probably damaging Het
Il1rl1 T A 1: 40,480,463 (GRCm39) W31R possibly damaging Het
Ip6k3 C T 17: 27,363,999 (GRCm39) D350N probably damaging Het
Irgc T C 7: 24,131,431 (GRCm39) D462G probably benign Het
Itprid1 T C 6: 55,874,941 (GRCm39) L297P probably benign Het
Jph3 A G 8: 122,511,572 (GRCm39) E520G probably benign Het
Kcna2 T A 3: 107,012,476 (GRCm39) D352E probably benign Het
Klk4 T A 7: 43,534,785 (GRCm39) I248N probably damaging Het
Krtap16-1 T C 11: 99,876,123 (GRCm39) Y427C probably damaging Het
Lgr4 A G 2: 109,801,035 (GRCm39) probably null Het
Lhpp C T 7: 132,212,406 (GRCm39) probably benign Het
Lypd3 T A 7: 24,339,656 (GRCm39) V241D probably damaging Het
Lyz2 T A 10: 117,116,678 (GRCm39) N57Y possibly damaging Het
Man1a A G 10: 53,950,594 (GRCm39) V176A probably damaging Het
Mcm4 G A 16: 15,447,503 (GRCm39) T487I probably benign Het
Mettl21c T A 1: 44,052,814 (GRCm39) I68F probably damaging Het
Miip T A 4: 147,946,720 (GRCm39) T313S probably damaging Het
Minar2 A G 18: 59,195,531 (GRCm39) probably null Het
Mog A T 17: 37,323,311 (GRCm39) I209K probably damaging Het
Myo1c C A 11: 75,563,008 (GRCm39) D997E probably benign Het
Npc1 T C 18: 12,352,261 (GRCm39) Y146C probably damaging Het
Nploc4 A G 11: 120,304,507 (GRCm39) L238P probably damaging Het
Opa1 A G 16: 29,432,947 (GRCm39) N544S probably benign Het
Or2j6 T C 7: 139,980,788 (GRCm39) Y57C probably damaging Het
Or2v1 T A 11: 49,025,874 (GRCm39) M285K probably damaging Het
Or6k6 T C 1: 173,945,078 (GRCm39) H168R probably benign Het
Pam C T 1: 97,822,126 (GRCm39) probably null Het
Pdgfra T C 5: 75,324,438 (GRCm39) Y98H probably damaging Het
Plcz1 C T 6: 139,936,459 (GRCm39) R590H probably damaging Het
Plxdc1 T C 11: 97,824,838 (GRCm39) Y339C probably damaging Het
Plxna1 T C 6: 89,300,575 (GRCm39) N1583S probably damaging Het
Plxna4 C T 6: 32,174,023 (GRCm39) V1191M probably damaging Het
Polk T A 13: 96,633,330 (GRCm39) N238Y probably benign Het
Ptprq T C 10: 107,521,018 (GRCm39) N718S probably benign Het
Rsrc1 A T 3: 67,088,194 (GRCm39) H176L probably damaging Het
Sbno1 T C 5: 124,522,604 (GRCm39) D1072G probably damaging Het
Scmh1 A G 4: 120,341,028 (GRCm39) K238R probably damaging Het
Senp7 A G 16: 55,944,236 (GRCm39) T187A possibly damaging Het
Slc12a4 T C 8: 106,678,249 (GRCm39) R315G probably benign Het
Slc16a10 A G 10: 39,916,612 (GRCm39) V430A probably benign Het
Slc26a7 T C 4: 14,621,317 (GRCm39) D23G probably benign Het
Slc28a2b T A 2: 122,357,928 (GRCm39) *661R probably null Het
Slc7a7 A G 14: 54,615,259 (GRCm39) L246P probably damaging Het
Spata7 T A 12: 98,629,428 (GRCm39) S332T probably benign Het
Spsb1 A G 4: 149,982,673 (GRCm39) *274R probably null Het
Sspo T G 6: 48,463,349 (GRCm39) V3767G probably null Het
Syt10 C A 15: 89,711,144 (GRCm39) A130S probably benign Het
Tgm6 T A 2: 129,994,865 (GRCm39) probably null Het
Them7 A C 2: 105,128,262 (GRCm39) N81T probably damaging Het
Tinag C A 9: 76,859,217 (GRCm39) A464S probably damaging Het
Tmem217 T G 17: 29,745,284 (GRCm39) I149L probably benign Het
Trp53rkb T G 2: 166,637,603 (GRCm39) D186E probably damaging Het
Vmn1r20 T C 6: 57,409,084 (GRCm39) Y137H probably damaging Het
Vmn1r60 T A 7: 5,547,379 (GRCm39) L240F probably benign Het
Vmn1r64 A G 7: 5,886,817 (GRCm39) M242T probably benign Het
Xkr4 T C 1: 3,740,886 (GRCm39) N229S probably benign Het
Zcchc2 T A 1: 105,931,853 (GRCm39) L352M probably damaging Het
Zfp217 C T 2: 169,957,382 (GRCm39) A539T probably benign Het
Zfp638 T C 6: 83,944,336 (GRCm39) L1018P probably 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
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
R7320:Abcc3 UTSW 11 94,258,471 (GRCm39) missense probably benign 0.33
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'- GGATGGATGGATGCCCCTTAAACAG -3'
(R):5'- ACCCAGTCAGCATACACTCGTAGG -3'

Sequencing Primer
(F):5'- TCCTCTTGGAACTCACCTCA -3'
(R):5'- cggaaggtagagacagacac -3'
Posted On 2013-04-16