Incidental Mutation 'R8036:Abcc3'
ID 618256
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 067473-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8036 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 94234121-94283823 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94236818 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 1473 (V1473A)
Ref Sequence ENSEMBL: ENSMUSP00000136343 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021231] [ENSMUST00000107818] [ENSMUST00000178136]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000021231
AA Change: V1472A

PolyPhen 2 Score 0.755 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: V1472A

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: 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 possibly damaging
Transcript: ENSMUST00000178136
AA Change: V1473A

PolyPhen 2 Score 0.472 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: V1473A

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: 99.1%
Validation Efficiency 100% (53/53)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap9 T A 5: 4,120,397 (GRCm39) C3604* probably null Het
Alas1 A G 9: 106,112,721 (GRCm39) I545T probably benign Het
Anpep A C 7: 79,491,646 (GRCm39) D118E probably benign Het
Arhgef17 A T 7: 100,579,062 (GRCm39) S629T probably damaging Het
Arid2 C T 15: 96,266,625 (GRCm39) R558C probably damaging Het
Camk2n1 A G 4: 138,184,056 (GRCm39) D65G probably damaging Het
Ccdc177 T C 12: 80,804,897 (GRCm39) N459S unknown Het
Cenpe ACTCTCT ACTCT 3: 134,945,609 (GRCm39) probably null Het
Crb1 T C 1: 139,165,122 (GRCm39) I1062V probably benign Het
Decr2 A G 17: 26,301,962 (GRCm39) L256P probably damaging Het
Dhx37 T C 5: 125,501,739 (GRCm39) M507V probably benign Het
Disp1 A G 1: 182,870,803 (GRCm39) I539T probably damaging Het
Dqx1 T A 6: 83,036,788 (GRCm39) V264E probably damaging Het
Enpp4 A G 17: 44,413,136 (GRCm39) S133P possibly damaging Het
Fam149a T C 8: 45,802,048 (GRCm39) T476A probably benign Het
Fam20b A G 1: 156,533,407 (GRCm39) W70R probably damaging Het
Fbxl13 T A 5: 21,728,566 (GRCm39) N508Y probably damaging Het
Fjx1 A G 2: 102,280,720 (GRCm39) L405P probably damaging Het
Fn1 G A 1: 71,629,310 (GRCm39) Q2399* probably null Het
Foxa2 G C 2: 147,885,909 (GRCm39) T308S probably benign Het
Gatad1 T C 5: 3,693,540 (GRCm39) R210G probably benign Het
Gm10521 A G 1: 171,723,752 (GRCm39) D21G unknown Het
Gstcd C T 3: 132,787,868 (GRCm39) V277M probably damaging Het
Herpud1 A G 8: 95,119,014 (GRCm39) E256G probably damaging Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Kctd13 A G 7: 126,528,414 (GRCm39) D63G possibly damaging Het
Lamp3 C A 16: 19,519,809 (GRCm39) D125Y probably damaging Het
Luzp2 A G 7: 54,724,823 (GRCm39) D128G probably damaging Het
Lyve1 A G 7: 110,458,649 (GRCm39) C105R probably damaging Het
Mlkl A T 8: 112,060,086 (GRCm39) V100E probably damaging Het
Muc5b T C 7: 141,421,478 (GRCm39) S4323P possibly damaging Het
Myoz3 T G 18: 60,713,922 (GRCm39) probably null Het
Nlrp9c T A 7: 26,070,864 (GRCm39) N906Y possibly damaging Het
Odad1 A G 7: 45,592,276 (GRCm39) D352G probably benign Het
Or10x4 A G 1: 174,219,382 (GRCm39) H249R probably damaging Het
Or51f23 A T 7: 102,452,763 (GRCm39) H26L possibly damaging Het
Or8b49 T C 9: 38,506,186 (GRCm39) F223S probably benign Het
Or8w1 C T 2: 87,465,847 (GRCm39) M81I probably benign Het
Pcsk9 G A 4: 106,311,536 (GRCm39) H232Y possibly damaging Het
Plec A G 15: 76,063,380 (GRCm39) I2230T possibly damaging Het
Pou2f3 T A 9: 43,058,205 (GRCm39) T47S probably damaging Het
Rab8a A T 8: 72,928,439 (GRCm39) I106F probably damaging Het
Relch A T 1: 105,605,902 (GRCm39) I181F probably damaging Het
Ros1 A T 10: 52,041,439 (GRCm39) S295T probably benign Het
Sh3yl1 T A 12: 30,992,098 (GRCm39) N222K possibly damaging Het
Slc6a9 C T 4: 117,725,083 (GRCm39) A559V possibly damaging Het
Spata20 T G 11: 94,369,963 (GRCm39) I778L probably benign Het
Taar1 A T 10: 23,797,033 (GRCm39) T244S probably benign Het
Tmem229b C A 12: 79,011,862 (GRCm39) C23F probably damaging Het
Ttll4 A G 1: 74,718,389 (GRCm39) Y80C probably benign Het
Ube2m G A 7: 12,769,566 (GRCm39) T176I probably benign Het
Zfp790 G A 7: 29,528,346 (GRCm39) A344T possibly damaging Het
Zfp90 G A 8: 107,145,760 (GRCm39) V31M probably benign Het
Zswim4 C T 8: 84,949,918 (GRCm39) R659Q 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
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
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'- ACACTGTACTCGAAGCTTGG -3'
(R):5'- TAGTCTGGAAGATAGCCTGGGC -3'

Sequencing Primer
(F):5'- ACTCGAAGCTTGGGAATTCC -3'
(R):5'- GGCACCTAGCTGAAAACTCCTG -3'
Posted On 2020-01-23