Incidental Mutation 'R4715:Abcc2'
ID 353996
Institutional Source Beutler Lab
Gene Symbol Abcc2
Ensembl Gene ENSMUSG00000025194
Gene Name ATP-binding cassette, sub-family member 2
Synonyms Cmoat, Mrp2, multidrug resistance protein 2
MMRRC Submission 041982-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4715 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 43770747-43826771 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 43805321 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Alanine at position 725 (E725A)
Ref Sequence ENSEMBL: ENSMUSP00000026208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026208]
AlphaFold Q8VI47
Predicted Effect possibly damaging
Transcript: ENSMUST00000026208
AA Change: E725A

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: E725A

DomainStartEndE-ValueType
transmembrane domain 29 51 N/A INTRINSIC
transmembrane domain 63 85 N/A INTRINSIC
transmembrane domain 100 116 N/A INTRINSIC
transmembrane domain 128 150 N/A INTRINSIC
transmembrane domain 160 182 N/A INTRINSIC
Pfam:ABC_membrane 319 591 3.4e-37 PFAM
low complexity region 597 608 N/A INTRINSIC
AAA 661 836 1.77e-8 SMART
low complexity region 906 933 N/A INTRINSIC
Pfam:ABC_membrane 977 1249 5.4e-48 PFAM
AAA 1324 1509 1.33e-12 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146737
Meta Mutation Damage Score 0.0820 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.0%
Validation Efficiency 92% (86/93)
MGI Phenotype FUNCTION: The membrane-associated 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. This protein functions in the canalicular surface of the hepatocyte and in biliary transport, and appears to contribute to drug resistance in mammalian cells. Several different mutations in the human gene have been observed in patients with Dubin-Johnson syndrome (DJS), an autosomal recessive disorder characterized by conjugated hyperbilirubinemia. Alternative splice variants have been observed for this gene; however, they have not been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene have moderately enlarged livers, elevated plasma and urine bilirubin, and a reduced ability to clear various drugs and carcinogens from the blood. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 G T 16: 20,217,626 (GRCm39) L362I probably damaging Het
Ammecr1l C T 18: 31,907,706 (GRCm39) R179* probably null Het
Arap2 G T 5: 62,906,437 (GRCm39) T194K probably benign Het
Atf2 C A 2: 73,653,644 (GRCm39) V282F probably damaging Het
Atosa T A 9: 74,920,250 (GRCm39) W799R probably damaging Het
Atp1a1 T C 3: 101,499,122 (GRCm39) E159G possibly damaging Het
B4galt2 T C 4: 117,734,376 (GRCm39) S258G possibly damaging Het
Bptf G T 11: 106,938,007 (GRCm39) H2695N probably damaging Het
Casq2 T C 3: 102,017,560 (GRCm39) V80A probably benign Het
Cdc42ep3 G A 17: 79,642,887 (GRCm39) A11V probably benign Het
Cdh4 A T 2: 179,422,260 (GRCm39) H128L probably benign Het
Cdk5rap1 C A 2: 154,203,755 (GRCm39) *191L probably null Het
Cfdp1 G A 8: 112,557,523 (GRCm39) T206I probably benign Het
Cgn C A 3: 94,686,748 (GRCm39) G185W probably damaging Het
Clpx A C 9: 65,219,396 (GRCm39) R231S possibly damaging Het
Copg1 T A 6: 87,889,268 (GRCm39) L870* probably null Het
Cyp4a10 A T 4: 115,382,535 (GRCm39) D275V probably benign Het
Dip2a T C 10: 76,132,240 (GRCm39) T504A probably benign Het
Dmxl2 A C 9: 54,353,689 (GRCm39) probably null Het
Dnaaf5 A T 5: 139,163,755 (GRCm39) I671F probably damaging Het
Dnah14 A G 1: 181,584,788 (GRCm39) D3173G probably damaging Het
Dock2 T C 11: 34,244,118 (GRCm39) Y1074C probably damaging Het
Dthd1 A C 5: 63,045,530 (GRCm39) M765L probably benign Het
E2f3 A C 13: 30,095,258 (GRCm39) C220W probably damaging Het
Elf3 C T 1: 135,185,490 (GRCm39) S8N probably damaging Het
F2rl1 A T 13: 95,649,775 (GRCm39) V369E probably damaging Het
Fpr-rs7 C T 17: 20,333,690 (GRCm39) G267R probably benign Het
Ggact A T 14: 123,129,047 (GRCm39) L56Q possibly damaging Het
Gm5546 T C 3: 104,273,824 (GRCm39) noncoding transcript Het
Gm8267 A G 14: 44,955,292 (GRCm39) V243A probably benign Het
Gtf2h1 A G 7: 46,464,836 (GRCm39) T424A possibly damaging Het
Gucy1b2 A G 14: 62,660,466 (GRCm39) V140A possibly damaging Het
Htatip2 T C 7: 49,420,592 (GRCm39) L146P probably damaging Het
Htr1b T C 9: 81,513,563 (GRCm39) D348G possibly damaging Het
Ifi205 T C 1: 173,855,887 (GRCm39) I48V possibly damaging Het
Igkv18-36 C T 6: 69,969,575 (GRCm39) R72K probably damaging Het
Kcnk7 T C 19: 5,756,281 (GRCm39) L169P probably damaging Het
Klf17 T C 4: 117,617,733 (GRCm39) D208G probably benign Het
Ltn1 A G 16: 87,215,382 (GRCm39) F418L probably damaging Het
Map4k4 G A 1: 40,058,724 (GRCm39) V1040I probably damaging Het
Mark1 A G 1: 184,644,329 (GRCm39) V445A probably benign Het
Med11 T C 11: 70,344,022 (GRCm39) I114T probably benign Het
Moxd2 A G 6: 40,864,181 (GRCm39) V83A probably damaging Het
Mrpl33 A G 5: 31,773,702 (GRCm39) probably benign Het
Mrps27 A G 13: 99,551,323 (GRCm39) probably null Het
Nop58 T C 1: 59,735,185 (GRCm39) V75A probably benign Het
Or13p5 T C 4: 118,591,852 (GRCm39) L42P probably damaging Het
Or2n1d A C 17: 38,646,731 (GRCm39) I228L possibly damaging Het
Or2t46 A G 11: 58,472,255 (GRCm39) D195G probably damaging Het
Or4k42 A C 2: 111,320,089 (GRCm39) M138R probably benign Het
Or7g19 A G 9: 18,856,742 (GRCm39) H266R probably benign Het
Or7g26 C A 9: 19,230,443 (GRCm39) F210L probably benign Het
Pdzd2 G T 15: 12,419,602 (GRCm39) N263K possibly damaging Het
Podnl1 C A 8: 84,852,690 (GRCm39) probably benign Het
Prkd3 G T 17: 79,259,366 (GRCm39) H864N possibly damaging Het
Ptprd T C 4: 76,025,570 (GRCm39) T543A probably benign Het
Pum2 T A 12: 8,797,272 (GRCm39) I788N probably damaging Het
Ralgapa1 T A 12: 55,740,243 (GRCm39) N1328I probably damaging Het
Rhoc T C 3: 104,701,355 (GRCm39) L193P probably damaging Het
Rif1 T C 2: 51,963,151 (GRCm39) probably benign Het
Rspo2 A T 15: 42,939,300 (GRCm39) C163* probably null Het
Sco1 A G 11: 66,947,425 (GRCm39) Y204C probably damaging Het
Shc2 T C 10: 79,458,213 (GRCm39) K490R probably benign Het
Siglec1 T C 2: 130,916,356 (GRCm39) D1198G probably damaging Het
Slc25a18 T C 6: 120,763,051 (GRCm39) V31A probably damaging Het
Smpd5 A T 15: 76,179,893 (GRCm39) I112L probably benign Het
Synpr CT C 14: 13,285,198 (GRCm38) probably null Het
Tdrd9 T G 12: 112,008,123 (GRCm39) S988A probably benign Het
Tiam2 T A 17: 3,504,443 (GRCm39) F982I probably damaging Het
Tmc3 G A 7: 83,271,604 (GRCm39) V919I probably benign Het
Tmed2b A T 9: 33,639,784 (GRCm39) noncoding transcript Het
Tmem200c A T 17: 69,147,465 (GRCm39) D16V probably damaging Het
Tmem37 A T 1: 119,995,935 (GRCm39) D47E probably damaging Het
Top3a T A 11: 60,633,823 (GRCm39) R733* probably null Het
Treh T C 9: 44,594,615 (GRCm39) V8A probably benign Het
Trim17 A C 11: 58,859,276 (GRCm39) probably benign Het
Ubash3b T C 9: 40,927,896 (GRCm39) K471E probably damaging Het
Usp8 T A 2: 126,571,142 (GRCm39) L144Q possibly damaging Het
Wnk2 T A 13: 49,300,708 (GRCm39) M1L unknown Het
Yju2b A G 8: 84,990,503 (GRCm39) I43T probably damaging Het
Other mutations in Abcc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00430:Abcc2 APN 19 43,772,641 (GRCm39) missense probably benign 0.39
IGL01611:Abcc2 APN 19 43,815,068 (GRCm39) missense probably damaging 1.00
IGL01800:Abcc2 APN 19 43,772,734 (GRCm39) missense possibly damaging 0.78
IGL02008:Abcc2 APN 19 43,810,189 (GRCm39) splice site probably benign
IGL02041:Abcc2 APN 19 43,772,674 (GRCm39) missense probably damaging 1.00
IGL02528:Abcc2 APN 19 43,786,943 (GRCm39) missense probably benign
IGL02950:Abcc2 APN 19 43,814,406 (GRCm39) missense possibly damaging 0.83
IGL03081:Abcc2 APN 19 43,770,841 (GRCm39) utr 5 prime probably benign
IGL03397:Abcc2 APN 19 43,772,743 (GRCm39) missense probably benign 0.00
loser UTSW 19 43,827,850 (GRCm39) utr 3 prime probably benign
nelson UTSW 19 43,792,178 (GRCm39) missense probably benign 0.07
Sore UTSW 19 43,786,633 (GRCm39) missense probably benign 0.22
BB002:Abcc2 UTSW 19 43,795,551 (GRCm39) missense probably benign 0.07
BB012:Abcc2 UTSW 19 43,795,551 (GRCm39) missense probably benign 0.07
PIT4453001:Abcc2 UTSW 19 43,792,221 (GRCm39) nonsense probably null
PIT4519001:Abcc2 UTSW 19 43,807,836 (GRCm39) missense possibly damaging 0.81
R0197:Abcc2 UTSW 19 43,815,053 (GRCm39) nonsense probably null
R0326:Abcc2 UTSW 19 43,814,386 (GRCm39) missense possibly damaging 0.90
R0391:Abcc2 UTSW 19 43,810,044 (GRCm39) splice site probably benign
R0558:Abcc2 UTSW 19 43,789,163 (GRCm39) missense probably benign 0.00
R0577:Abcc2 UTSW 19 43,807,840 (GRCm39) missense probably damaging 1.00
R0787:Abcc2 UTSW 19 43,786,955 (GRCm39) critical splice donor site probably null
R1189:Abcc2 UTSW 19 43,807,852 (GRCm39) missense probably damaging 1.00
R1200:Abcc2 UTSW 19 43,822,426 (GRCm39) missense probably damaging 0.98
R1395:Abcc2 UTSW 19 43,822,379 (GRCm39) missense probably benign 0.22
R1606:Abcc2 UTSW 19 43,825,091 (GRCm39) missense probably damaging 1.00
R1775:Abcc2 UTSW 19 43,786,858 (GRCm39) missense possibly damaging 0.88
R1797:Abcc2 UTSW 19 43,822,426 (GRCm39) missense probably damaging 0.98
R1797:Abcc2 UTSW 19 43,803,225 (GRCm39) missense possibly damaging 0.81
R1826:Abcc2 UTSW 19 43,810,453 (GRCm39) missense probably benign 0.01
R1882:Abcc2 UTSW 19 43,786,945 (GRCm39) missense probably benign 0.00
R1913:Abcc2 UTSW 19 43,795,683 (GRCm39) missense probably benign 0.10
R1986:Abcc2 UTSW 19 43,818,318 (GRCm39) missense probably damaging 1.00
R1991:Abcc2 UTSW 19 43,795,581 (GRCm39) missense probably damaging 1.00
R1992:Abcc2 UTSW 19 43,795,581 (GRCm39) missense probably damaging 1.00
R2006:Abcc2 UTSW 19 43,793,500 (GRCm39) missense probably damaging 1.00
R2057:Abcc2 UTSW 19 43,806,477 (GRCm39) missense probably damaging 1.00
R3709:Abcc2 UTSW 19 43,786,885 (GRCm39) missense possibly damaging 0.80
R3802:Abcc2 UTSW 19 43,810,065 (GRCm39) missense probably benign 0.01
R4010:Abcc2 UTSW 19 43,818,303 (GRCm39) missense possibly damaging 0.75
R4014:Abcc2 UTSW 19 43,811,559 (GRCm39) missense probably benign
R4064:Abcc2 UTSW 19 43,793,432 (GRCm39) nonsense probably null
R4296:Abcc2 UTSW 19 43,811,514 (GRCm39) missense probably damaging 1.00
R4296:Abcc2 UTSW 19 43,811,513 (GRCm39) missense probably damaging 1.00
R4363:Abcc2 UTSW 19 43,787,575 (GRCm39) missense possibly damaging 0.94
R4580:Abcc2 UTSW 19 43,799,558 (GRCm39) missense probably damaging 1.00
R4625:Abcc2 UTSW 19 43,792,178 (GRCm39) missense probably benign 0.07
R4631:Abcc2 UTSW 19 43,803,146 (GRCm39) missense possibly damaging 0.70
R4671:Abcc2 UTSW 19 43,789,157 (GRCm39) missense probably benign
R4726:Abcc2 UTSW 19 43,820,553 (GRCm39) missense probably benign 0.23
R4760:Abcc2 UTSW 19 43,798,920 (GRCm39) missense probably benign 0.03
R4801:Abcc2 UTSW 19 43,807,800 (GRCm39) missense probably damaging 1.00
R4802:Abcc2 UTSW 19 43,807,800 (GRCm39) missense probably damaging 1.00
R4976:Abcc2 UTSW 19 43,789,074 (GRCm39) missense probably benign 0.34
R5143:Abcc2 UTSW 19 43,810,100 (GRCm39) missense probably benign 0.28
R5206:Abcc2 UTSW 19 43,806,589 (GRCm39) missense probably damaging 1.00
R5376:Abcc2 UTSW 19 43,818,339 (GRCm39) missense possibly damaging 0.76
R5478:Abcc2 UTSW 19 43,827,904 (GRCm39) utr 3 prime probably benign
R5700:Abcc2 UTSW 19 43,786,633 (GRCm39) missense probably benign 0.22
R5863:Abcc2 UTSW 19 43,786,575 (GRCm39) missense probably benign 0.00
R5928:Abcc2 UTSW 19 43,807,797 (GRCm39) missense probably damaging 1.00
R5955:Abcc2 UTSW 19 43,801,629 (GRCm39) missense probably damaging 0.98
R5983:Abcc2 UTSW 19 43,807,942 (GRCm39) missense probably benign
R6014:Abcc2 UTSW 19 43,815,174 (GRCm39) missense probably benign
R6419:Abcc2 UTSW 19 43,825,947 (GRCm39) splice site probably null
R6497:Abcc2 UTSW 19 43,793,544 (GRCm39) missense probably damaging 1.00
R6510:Abcc2 UTSW 19 43,770,645 (GRCm39) splice site probably null
R6614:Abcc2 UTSW 19 43,807,800 (GRCm39) missense probably benign 0.01
R6649:Abcc2 UTSW 19 43,800,941 (GRCm39) missense probably benign 0.05
R6653:Abcc2 UTSW 19 43,800,941 (GRCm39) missense probably benign 0.05
R6670:Abcc2 UTSW 19 43,827,850 (GRCm39) utr 3 prime probably benign
R6964:Abcc2 UTSW 19 43,786,515 (GRCm39) missense probably benign 0.12
R6989:Abcc2 UTSW 19 43,820,611 (GRCm39) missense probably damaging 1.00
R7015:Abcc2 UTSW 19 43,786,617 (GRCm39) missense probably benign 0.03
R7026:Abcc2 UTSW 19 43,818,974 (GRCm39) missense probably benign 0.01
R7026:Abcc2 UTSW 19 43,805,392 (GRCm39) missense probably benign 0.00
R7136:Abcc2 UTSW 19 43,825,899 (GRCm39) missense probably damaging 1.00
R7252:Abcc2 UTSW 19 43,816,388 (GRCm39) missense probably damaging 0.98
R7293:Abcc2 UTSW 19 43,795,492 (GRCm39) missense probably damaging 1.00
R7392:Abcc2 UTSW 19 43,797,126 (GRCm39) missense probably damaging 0.97
R7450:Abcc2 UTSW 19 43,810,478 (GRCm39) missense probably damaging 1.00
R7654:Abcc2 UTSW 19 43,815,032 (GRCm39) missense possibly damaging 0.87
R7787:Abcc2 UTSW 19 43,772,685 (GRCm39) missense probably damaging 1.00
R7815:Abcc2 UTSW 19 43,818,866 (GRCm39) missense probably benign 0.01
R7911:Abcc2 UTSW 19 43,792,109 (GRCm39) missense probably benign 0.00
R7919:Abcc2 UTSW 19 43,805,248 (GRCm39) missense probably damaging 1.00
R7925:Abcc2 UTSW 19 43,795,551 (GRCm39) missense probably benign 0.07
R7993:Abcc2 UTSW 19 43,803,231 (GRCm39) missense possibly damaging 0.71
R8097:Abcc2 UTSW 19 43,805,394 (GRCm39) missense probably benign 0.10
R8177:Abcc2 UTSW 19 43,795,519 (GRCm39) missense probably damaging 1.00
R8492:Abcc2 UTSW 19 43,793,410 (GRCm39) missense probably benign 0.07
R8693:Abcc2 UTSW 19 43,810,474 (GRCm39) missense probably benign 0.06
R8722:Abcc2 UTSW 19 43,825,052 (GRCm39) missense possibly damaging 0.89
R8734:Abcc2 UTSW 19 43,770,855 (GRCm39) missense probably damaging 1.00
R8774:Abcc2 UTSW 19 43,787,577 (GRCm39) missense probably damaging 0.99
R8774-TAIL:Abcc2 UTSW 19 43,787,577 (GRCm39) missense probably damaging 0.99
R8798:Abcc2 UTSW 19 43,797,105 (GRCm39) missense probably benign 0.01
R8889:Abcc2 UTSW 19 43,795,571 (GRCm39) missense possibly damaging 0.88
R8892:Abcc2 UTSW 19 43,795,571 (GRCm39) missense possibly damaging 0.88
R8936:Abcc2 UTSW 19 43,797,101 (GRCm39) missense probably benign 0.35
R9031:Abcc2 UTSW 19 43,810,466 (GRCm39) missense probably benign
R9116:Abcc2 UTSW 19 43,793,391 (GRCm39) missense probably benign 0.30
R9201:Abcc2 UTSW 19 43,786,880 (GRCm39) missense probably damaging 0.97
R9246:Abcc2 UTSW 19 43,786,882 (GRCm39) missense probably benign 0.01
R9345:Abcc2 UTSW 19 43,807,869 (GRCm39) missense probably damaging 0.97
R9487:Abcc2 UTSW 19 43,806,471 (GRCm39) missense probably damaging 1.00
X0025:Abcc2 UTSW 19 43,820,644 (GRCm39) critical splice donor site probably null
Z1177:Abcc2 UTSW 19 43,811,539 (GRCm39) nonsense probably null
Z1177:Abcc2 UTSW 19 43,792,175 (GRCm39) missense probably benign 0.00
Z1177:Abcc2 UTSW 19 43,792,173 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- CTCTACAAACCTAGGCGTTGC -3'
(R):5'- CTTGTATTTGCTTCCAGGTACAAAG -3'

Sequencing Primer
(F):5'- ACAAACCTAGGCGTTGCTTATTC -3'
(R):5'- TCCAGGTCAGTCAAGGCTACATTG -3'
Posted On 2015-10-21