Incidental Mutation 'R5816:Abcc3'
ID 449056
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 043214-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5816 (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 94234563 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1501 (D1501G)
Ref Sequence ENSEMBL: ENSMUSP00000136343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021227] [ENSMUST00000021231] [ENSMUST00000051221] [ENSMUST00000107818] [ENSMUST00000178136]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000021227
SMART Domains Protein: ENSMUSP00000021227
Gene: ENSMUSG00000020864

DomainStartEndE-ValueType
ANK 9 38 7.29e2 SMART
ANK 43 72 3.57e-6 SMART
low complexity region 144 168 N/A INTRINSIC
low complexity region 234 251 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000021231
AA Change: D1500G

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: D1500G

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: ENSMUST00000051221
SMART Domains Protein: ENSMUSP00000061637
Gene: ENSMUSG00000020864

DomainStartEndE-ValueType
ANK 9 38 7.29e2 SMART
ANK 43 72 3.57e-6 SMART
low complexity region 144 168 N/A INTRINSIC
low complexity region 234 251 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000107818
SMART Domains Protein: ENSMUSP00000103448
Gene: ENSMUSG00000020864

DomainStartEndE-ValueType
ANK 9 38 7.29e2 SMART
ANK 43 72 3.57e-6 SMART
low complexity region 144 168 N/A INTRINSIC
low complexity region 234 251 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124087
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140985
Predicted Effect probably damaging
Transcript: ENSMUST00000178136
AA Change: D1501G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: D1501G

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: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh8a1 A T 10: 21,271,329 (GRCm39) I352F probably damaging Het
Bend7 G A 2: 4,749,143 (GRCm39) E87K probably damaging Het
Bend7 A G 2: 4,757,710 (GRCm39) R251G probably benign Het
Cep72 A T 13: 74,197,150 (GRCm39) S402T probably benign Het
Cer1 A G 4: 82,801,120 (GRCm39) V181A probably damaging Het
Ces1b T C 8: 93,799,890 (GRCm39) N162S probably benign Het
Cyp1a2 T C 9: 57,588,336 (GRCm39) N296S probably benign Het
Cyria A G 12: 12,408,166 (GRCm39) D64G probably benign Het
Dst C T 1: 34,218,315 (GRCm39) A1585V probably benign Het
Dzip1 G A 14: 119,146,892 (GRCm39) P339L probably benign Het
Eif4enif1 T C 11: 3,192,401 (GRCm39) I568T probably benign Het
Eif5a C T 11: 69,808,499 (GRCm39) R109Q possibly damaging Het
Foxj2 G A 6: 122,810,695 (GRCm39) S225N probably benign Het
Foxp1 TTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG 6: 99,052,926 (GRCm39) probably benign Het
Galnt14 T C 17: 73,881,877 (GRCm39) Y74C probably damaging Het
Glrb T A 3: 80,769,286 (GRCm39) N147I probably damaging Het
Grb14 A T 2: 64,747,628 (GRCm39) M377K probably damaging Het
Kcng1 C T 2: 168,110,643 (GRCm39) E174K possibly damaging Het
Kdm3b A C 18: 34,961,522 (GRCm39) E1433A probably damaging Het
Matn3 G A 12: 9,020,571 (GRCm39) R481H probably damaging Het
Mcm6 A G 1: 128,276,192 (GRCm39) V331A probably benign Het
Mdga2 T C 12: 66,701,956 (GRCm39) Y415C probably damaging Het
Med11 T C 11: 70,343,111 (GRCm39) S65P probably damaging Het
Metrnl T A 11: 121,598,938 (GRCm39) S166T probably benign Het
Mllt6 A G 11: 97,563,400 (GRCm39) K328E probably damaging Het
Nek5 T C 8: 22,586,752 (GRCm39) K353R probably benign Het
Or52ab4 A G 7: 102,988,202 (GRCm39) T314A probably benign Het
Or8g52 T A 9: 39,630,526 (GRCm39) M1K probably null Het
Pfkl A T 10: 77,837,856 (GRCm39) N46K possibly damaging Het
Phactr3 A G 2: 177,944,586 (GRCm39) E428G probably damaging Het
Pkhd1 T C 1: 20,128,902 (GRCm39) S3934G probably benign Het
Pkhd1l1 A G 15: 44,429,718 (GRCm39) D3312G probably benign Het
Prmt8 G A 6: 127,674,701 (GRCm39) T309I probably benign Het
Psd3 A T 8: 68,413,162 (GRCm39) V742E possibly damaging Het
S100a14 A G 3: 90,435,157 (GRCm39) H56R probably damaging Het
Scaf8 T A 17: 3,227,988 (GRCm39) S406T unknown Het
Slc26a4 G T 12: 31,578,684 (GRCm39) H656Q probably damaging Het
Smarcc1 T C 9: 110,026,712 (GRCm39) V724A possibly damaging Het
Thbs2 C T 17: 14,904,333 (GRCm39) probably null Het
Zbtb6 A T 2: 37,319,227 (GRCm39) F234I probably benign Het
Zfp536 C T 7: 37,180,053 (GRCm39) D851N 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
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'- AGAGCGTGGCTTTGAACTG -3'
(R):5'- AAGTGTGCATGTGTGGCCTATC -3'

Sequencing Primer
(F):5'- TGAACTGGCTGTGATCTCTAAC -3'
(R):5'- GCATGTGTGGCCTATCAGTTG -3'
Posted On 2016-12-20