Incidental Mutation 'R1269:Abcc3'
ID 151255
Institutional Source Beutler Lab
Gene Symbol Abcc3
Ensembl Gene ENSMUSG00000020865
Gene Name ATP-binding cassette, sub-family C member 3
Synonyms 1700019L09Rik, MRP3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1269 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 94234121-94283823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 94248210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 1129 (R1129Q)
Ref Sequence ENSEMBL: ENSMUSP00000021231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021231] [ENSMUST00000178136]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021231
AA Change: R1129Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: R1129Q

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 possibly damaging
Transcript: ENSMUST00000178136
AA Change: R1130Q

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: R1130Q

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
Meta Mutation Damage Score 0.1564 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.2%
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Brd8 C T 18: 34,742,857 (GRCm39) probably null Het
Ccdc9b C T 2: 118,591,871 (GRCm39) E90K possibly damaging Het
Dnah5 G A 15: 28,238,657 (GRCm39) V400M probably damaging Het
Epc2 T A 2: 49,412,588 (GRCm39) S189T probably benign Het
Inpp4a T C 1: 37,428,823 (GRCm39) S83P probably benign Het
Ints2 C T 11: 86,123,911 (GRCm39) G626R probably damaging Het
Ltbp1 A G 17: 75,532,280 (GRCm39) Q118R possibly damaging Het
Mbtps1 T C 8: 120,247,016 (GRCm39) D809G probably damaging Het
Nbea T C 3: 55,912,202 (GRCm39) E1195G probably benign Het
Nfasc G T 1: 132,538,526 (GRCm39) P454T probably damaging Het
Nlrp4e T A 7: 23,052,763 (GRCm39) I894N possibly damaging Het
Picalm A T 7: 89,814,757 (GRCm39) R129* probably null Het
Plekhg3 T C 12: 76,607,243 (GRCm39) I101T probably damaging Het
Pstpip1 A G 9: 56,021,590 (GRCm39) D38G probably damaging Het
Sec13 A G 6: 113,714,956 (GRCm39) S3P probably damaging Het
Shf G A 2: 122,199,163 (GRCm39) P51S probably damaging Het
Sytl1 A T 4: 132,983,426 (GRCm39) L370Q probably damaging Het
Tenm2 T A 11: 35,899,185 (GRCm39) I2658F possibly damaging Het
Tmc5 A G 7: 118,265,816 (GRCm39) M769V probably benign Het
Tspan8 A G 10: 115,685,287 (GRCm39) I232V probably damaging Het
Wbp1 G A 6: 83,096,584 (GRCm39) T156I probably benign Het
Wfikkn2 T C 11: 94,129,301 (GRCm39) Y280C probably damaging Het
Xrcc6 A T 15: 81,907,048 (GRCm39) Q123H possibly damaging Het
Zfp526 T C 7: 24,923,788 (GRCm39) S16P probably benign 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
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'- GGATTCAAGCTGTTTCTCCCGATCAC -3'
(R):5'- GTTCTCCAAGAAAGTGTAGGAAGCTCG -3'

Sequencing Primer
(F):5'- CAGCCATCTGTAGGGACCAAG -3'
(R):5'- TCGAGCGAGGCTTGTGG -3'
Posted On 2014-01-29