Incidental Mutation 'R7131:Abcc3'
ID 552682
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 045216-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7131 (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 T at 94255857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 543 (F543I)
Ref Sequence ENSEMBL: ENSMUSP00000136343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021231] [ENSMUST00000178136]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021231
AA Change: F543I

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: F543I

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 damaging
Transcript: ENSMUST00000178136
AA Change: F543I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: F543I

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4fm4 A G 4: 144,396,637 (GRCm39) V365A probably damaging Het
Abca13 A G 11: 9,241,893 (GRCm39) N1252S probably benign Het
Adam15 T A 3: 89,254,287 (GRCm39) Q170L possibly damaging Het
Aldoc A G 11: 78,215,282 (GRCm39) I19V possibly damaging Het
Aoc1l1 T A 6: 48,953,306 (GRCm39) Y410* probably null Het
Atrip T C 9: 108,889,488 (GRCm39) I711M probably benign Het
Brwd1 A C 16: 95,867,698 (GRCm39) L149R probably damaging Het
Capn9 A T 8: 125,303,017 (GRCm39) D45V probably damaging Het
Card9 G A 2: 26,248,847 (GRCm39) R101C probably damaging Het
Ccdc87 A G 19: 4,891,785 (GRCm39) E759G probably damaging Het
Ccn1 T C 3: 145,354,536 (GRCm39) D125G probably damaging Het
Cep250 T C 2: 155,806,997 (GRCm39) M193T probably damaging Het
Cfap54 T C 10: 92,656,966 (GRCm39) K3029E probably benign Het
Chrna9 G A 5: 66,134,484 (GRCm39) G445D possibly damaging Het
Cluap1 C T 16: 3,758,639 (GRCm39) S367L probably benign Het
Col5a1 A G 2: 27,819,498 (GRCm39) D200G unknown Het
Crhr2 T C 6: 55,069,112 (GRCm39) N388D Het
Cyp2b23 A G 7: 26,380,838 (GRCm39) L129P probably benign Het
Dctd A G 8: 48,565,075 (GRCm39) S67G probably benign Het
Dhtkd1 C G 2: 5,908,881 (GRCm39) V738L probably benign Het
Dnah17 C T 11: 117,970,484 (GRCm39) D2173N probably benign Het
Dnah7c G T 1: 46,720,932 (GRCm39) A2819S probably benign Het
Dnai7 A T 6: 145,123,132 (GRCm39) L578Q probably null Het
Dot1l A G 10: 80,628,175 (GRCm39) H1071R unknown Het
Dync2h1 T A 9: 7,075,786 (GRCm39) D3027V probably damaging Het
Efl1 A G 7: 82,307,272 (GRCm39) Y56C probably damaging Het
Eif4e1b A T 13: 54,931,913 (GRCm39) R29W probably null Het
Evc2 A G 5: 37,567,602 (GRCm39) R860G probably damaging Het
Fbxl12 G A 9: 20,555,679 (GRCm39) probably benign Het
Fibp T A 19: 5,511,519 (GRCm39) I129N probably damaging Het
Folh1 G T 7: 86,375,320 (GRCm39) H555Q probably damaging Het
Gcnt4 A T 13: 97,083,027 (GRCm39) T108S probably damaging Het
H1f7 T A 15: 98,154,250 (GRCm39) K300* probably null Het
Hecw2 A T 1: 53,904,280 (GRCm39) V1156E probably damaging Het
Herc3 C G 6: 58,864,409 (GRCm39) A681G probably damaging Het
Igkv13-84 T A 6: 68,916,764 (GRCm39) C20* probably null Het
Iho1 A T 9: 108,294,619 (GRCm39) D98E probably benign Het
Iqca1l A G 5: 24,753,954 (GRCm39) V435A possibly damaging Het
Ivd C A 2: 118,700,255 (GRCm39) T94K probably damaging Het
Kank2 C T 9: 21,705,975 (GRCm39) A348T probably benign Het
Kcnma1 T C 14: 23,417,562 (GRCm39) Y889C probably damaging Het
Kif13b T C 14: 65,010,517 (GRCm39) V1272A probably damaging Het
Kmt2d GCTGCTGCT GCTGCTGCTCCTGCTGCT 15: 98,747,497 (GRCm39) probably benign Het
Kmt5b T A 19: 3,865,412 (GRCm39) D825E probably benign Het
Krt39 C T 11: 99,411,697 (GRCm39) A130T probably benign Het
Krtap4-9 C T 11: 99,676,283 (GRCm39) T68I unknown Het
Lmbr1l A T 15: 98,804,204 (GRCm39) V365E probably benign Het
Lonp1 C T 17: 56,924,814 (GRCm39) R531Q probably damaging Het
Mecom T A 3: 30,035,094 (GRCm39) H194L probably damaging Het
Mlx C T 11: 100,980,068 (GRCm39) H188Y probably damaging Het
Mrps10 T C 17: 47,685,940 (GRCm39) S77P probably damaging Het
Mst1 A G 9: 107,962,130 (GRCm39) E716G probably null Het
Mttp C T 3: 137,821,893 (GRCm39) V210I probably benign Het
Mug2 T C 6: 122,052,206 (GRCm39) V988A probably damaging Het
Ndufb6 A G 4: 40,279,336 (GRCm39) M1T probably null Het
Neurog1 A T 13: 56,399,563 (GRCm39) N61K probably benign Het
Nlrp14 A G 7: 106,784,021 (GRCm39) D581G possibly damaging Het
Nlrp4a C A 7: 26,149,258 (GRCm39) N288K probably benign Het
Notch3 T A 17: 32,363,191 (GRCm39) H1264L probably benign Het
Or1e25 A T 11: 73,493,562 (GRCm39) D52V possibly damaging Het
Or1e34 A T 11: 73,778,780 (GRCm39) C139* probably null Het
Or3a1c A G 11: 74,046,606 (GRCm39) M209V probably benign Het
Patl2 A T 2: 121,952,263 (GRCm39) probably null Het
Pfkfb4 A G 9: 108,836,370 (GRCm39) T133A probably benign Het
Pla2g4f T C 2: 120,135,035 (GRCm39) E471G probably null Het
Postn T C 3: 54,270,056 (GRCm39) V45A probably damaging Het
Ppan T A 9: 20,802,450 (GRCm39) V257E possibly damaging Het
Ptcra C G 17: 47,074,522 (GRCm39) A7P probably damaging Het
Ptprd C T 4: 75,984,577 (GRCm39) R523H probably damaging Het
Pycr3 A T 15: 75,790,544 (GRCm39) I105N possibly damaging Het
Rfx1 C A 8: 84,821,708 (GRCm39) Q815K probably damaging Het
Rfx3 T A 19: 27,746,028 (GRCm39) K668* probably null Het
Ryr2 A T 13: 11,655,213 (GRCm39) D3661E possibly damaging Het
Ryr2 A G 13: 11,683,697 (GRCm39) probably null Het
Sec23ip T A 7: 128,381,364 (GRCm39) S974T probably damaging Het
Semp2l2a A T 8: 13,886,982 (GRCm39) W370R probably damaging Het
Setbp1 A G 18: 79,130,175 (GRCm39) F19S probably benign Het
Setd1a AAGCAGCAGCAGCAGCAGCAG AAGCAGCAGCAGCAGCAG 7: 127,395,590 (GRCm39) probably benign Het
Sh3pxd2b A G 11: 32,372,072 (GRCm39) K413R probably damaging Het
Slc39a12 T C 2: 14,454,614 (GRCm39) V544A probably damaging Het
Slc6a7 T C 18: 61,135,274 (GRCm39) Y418C probably damaging Het
Snx19 T G 9: 30,339,189 (GRCm39) I109S probably damaging Het
Spart T C 3: 55,029,220 (GRCm39) probably null Het
Sptbn2 A T 19: 4,799,488 (GRCm39) Q2097L probably null Het
Syne1 T C 10: 5,178,221 (GRCm39) K4751R probably damaging Het
Tigit C A 16: 43,482,615 (GRCm39) G40C probably damaging Het
Tmem181a T A 17: 6,348,247 (GRCm39) I264K probably damaging Het
Tom1 T A 8: 75,783,877 (GRCm39) I287N possibly damaging Het
Top2a G A 11: 98,895,008 (GRCm39) P864L possibly damaging Het
Trmt44 A T 5: 35,728,410 (GRCm39) V290E probably damaging Het
Try4 T C 6: 41,281,337 (GRCm39) I93T probably benign Het
Usp24 T A 4: 106,239,500 (GRCm39) H1147Q possibly damaging Het
Uspl1 A T 5: 149,130,745 (GRCm39) R109S probably benign Het
Vav3 T A 3: 109,571,662 (GRCm39) F755I probably damaging Het
Vezt A T 10: 93,806,409 (GRCm39) Y667* probably null Het
Vmn1r231 T A 17: 21,110,140 (GRCm39) L258F possibly damaging Het
Zfp207 T C 11: 80,286,354 (GRCm39) M489T unknown Het
Zfp462 A G 4: 55,009,380 (GRCm39) T449A probably benign Het
Zfp956 C A 6: 47,932,781 (GRCm39) Q19K probably benign Het
Zkscan8 A T 13: 21,709,443 (GRCm39) W152R 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
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
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'- AACTGAGGCAGCATGTTGAG -3'
(R):5'- TCAAGGACTCCCGCATCAAG -3'

Sequencing Primer
(F):5'- GACACAAAGGCCTTCTCGG -3'
(R):5'- GCTGATGAGCGAGATCCTG -3'
Posted On 2019-05-15