Incidental Mutation 'R9031:Abcc2'
ID 687108
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 068860-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 43770747-43826771 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43810466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 921 (R921H)
Ref Sequence ENSEMBL: ENSMUSP00000026208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026208]
AlphaFold Q8VI47
Predicted Effect probably benign
Transcript: ENSMUST00000026208
AA Change: R921H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: R921H

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 100% (81/81)
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: 82 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 A G 16: 35,119,859 (GRCm39) I1123V probably damaging Het
Agr2 G C 12: 36,045,565 (GRCm39) G17A probably benign Het
Akap6 A T 12: 53,188,831 (GRCm39) T2082S probably benign Het
Asxl3 G T 18: 22,657,401 (GRCm39) V1804F probably damaging Het
Atat1 A G 17: 36,220,381 (GRCm39) V37A probably benign Het
Atp1a3 A T 7: 24,689,212 (GRCm39) probably null Het
Bpifb1 A G 2: 154,051,848 (GRCm39) T218A probably benign Het
C030006K11Rik T A 15: 76,607,961 (GRCm39) Q19L probably benign Het
Ccdc138 T C 10: 58,380,893 (GRCm39) F508S probably damaging Het
Ccdc81 T A 7: 89,542,358 (GRCm39) M173L probably benign Het
Cdhr1 T C 14: 36,815,976 (GRCm39) I141V probably benign Het
Chia1 T C 3: 106,035,777 (GRCm39) F206L probably benign Het
Clca3a2 C T 3: 144,511,475 (GRCm39) G640E probably damaging Het
Clcn7 T C 17: 25,376,497 (GRCm39) V609A probably damaging Het
Cmklr2 T C 1: 63,223,145 (GRCm39) E30G probably benign Het
Col22a1 C A 15: 71,753,523 (GRCm39) G126* probably null Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Ctcfl A T 2: 172,959,044 (GRCm39) D227E probably benign Het
Cwf19l2 A G 9: 3,417,942 (GRCm39) D134G probably benign Het
Cyp2c65 C A 19: 39,061,663 (GRCm39) C216* probably null Het
Cyp2d12 T A 15: 82,443,423 (GRCm39) C462S probably null Het
Cyp4a12a A C 4: 115,189,199 (GRCm39) *509Y probably null Het
Cyp4a12b A G 4: 115,290,865 (GRCm39) M298V probably benign Het
Dennd4b T C 3: 90,178,188 (GRCm39) V471A probably benign Het
Dlc1 A G 8: 37,405,055 (GRCm39) S245P possibly damaging Het
Dnah1 C T 14: 31,001,128 (GRCm39) G2406S probably benign Het
Dnah8 A G 17: 30,956,401 (GRCm39) K2127R probably damaging Het
Dusp13b G A 14: 21,790,233 (GRCm39) R38C probably benign Het
Ebf2 T A 14: 67,472,594 (GRCm39) I4N probably benign Het
Eef1ece2 C T 16: 20,459,375 (GRCm39) P570L probably damaging Het
Fcgbp A G 7: 27,790,908 (GRCm39) N723S possibly damaging Het
Galnt15 T A 14: 31,770,027 (GRCm39) V368E probably damaging Het
Garem2 A G 5: 30,313,262 (GRCm39) E42G possibly damaging Het
Gcc1 C T 6: 28,418,182 (GRCm39) S717N probably damaging Het
Gfm2 T C 13: 97,309,201 (GRCm39) probably null Het
Helb T C 10: 119,920,790 (GRCm39) D1051G possibly damaging Het
Helz2 T A 2: 180,874,261 (GRCm39) I2078F possibly damaging Het
Hsph1 A T 5: 149,553,270 (GRCm39) V297D probably damaging Het
Ifnar1 A G 16: 91,302,079 (GRCm39) Y518C probably benign Het
Kcnip2 T A 19: 45,783,210 (GRCm39) D153V probably damaging Het
Kif15 A T 9: 122,846,492 (GRCm39) probably benign Het
Kif21b T C 1: 136,073,042 (GRCm39) F147L probably damaging Het
Klhl29 T C 12: 5,140,537 (GRCm39) R702G probably damaging Het
Lemd3 C T 10: 120,767,878 (GRCm39) E667K possibly damaging Het
Loxl3 T C 6: 83,012,503 (GRCm39) L14P probably damaging Het
Lrrd1 A T 5: 3,900,963 (GRCm39) K423* probably null Het
Mia2 A G 12: 59,155,586 (GRCm39) D433G probably damaging Het
Mpp2 G T 11: 101,954,099 (GRCm39) A216E probably benign Het
Mro T C 18: 74,009,911 (GRCm39) probably null Het
Mybpc1 T G 10: 88,358,906 (GRCm39) Y1081S probably damaging Het
Myh8 T G 11: 67,190,141 (GRCm39) S1260R possibly damaging Het
Myo3b T C 2: 70,082,094 (GRCm39) V618A probably damaging Het
Naip2 T G 13: 100,314,776 (GRCm39) D334A possibly damaging Het
Naip5 T A 13: 100,356,338 (GRCm39) E1092D probably benign Het
Nlrp4c T C 7: 6,107,608 (GRCm39) *983Q probably null Het
Nlrp9a T G 7: 26,257,698 (GRCm39) F439V probably damaging Het
Nploc4 A T 11: 120,319,368 (GRCm39) L64H probably damaging Het
Ola1 T C 2: 72,924,060 (GRCm39) E246G probably benign Het
Otof G A 5: 30,537,532 (GRCm39) S1259F probably benign Het
Pde4dip T C 3: 97,599,675 (GRCm39) T2438A probably damaging Het
Pex1 A G 5: 3,686,844 (GRCm39) T1242A probably damaging Het
Pink1 A T 4: 138,043,056 (GRCm39) probably benign Het
Prkcq A G 2: 11,251,819 (GRCm39) T219A probably damaging Het
Ptcd3 A T 6: 71,880,458 (GRCm39) Y88* probably null Het
Ptpru A G 4: 131,515,691 (GRCm39) Y888H probably damaging Het
Rapgef6 A G 11: 54,578,667 (GRCm39) N1063S probably benign Het
Slc1a4 G A 11: 20,282,532 (GRCm39) probably benign Het
Slc4a4 T C 5: 89,205,568 (GRCm39) probably benign Het
Slc6a18 A T 13: 73,819,822 (GRCm39) N249K possibly damaging Het
Slco2b1 T G 7: 99,338,214 (GRCm39) I104L probably damaging Het
Syne3 A T 12: 104,905,871 (GRCm39) S897R probably benign Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Tnni3k A G 3: 154,744,146 (GRCm39) S69P probably damaging Het
Tnpo2 A G 8: 85,780,163 (GRCm39) K700E probably benign Het
Top3a T C 11: 60,636,695 (GRCm39) K657E probably damaging Het
Trgv4 C T 13: 19,369,169 (GRCm39) Q7* probably null Het
Trim6 T C 7: 103,875,159 (GRCm39) L132P probably damaging Het
Tshz1 T C 18: 84,032,987 (GRCm39) T474A probably benign Het
Unc13d AATGCCTCCCATGCC AATGCCTCCCATGCCTCCCATGCC 11: 115,958,998 (GRCm39) probably benign Het
Vmn1r179 A T 7: 23,628,234 (GRCm39) I142L probably benign Het
Zbtb2 A T 10: 4,319,183 (GRCm39) F281Y probably damaging Het
Zfp318 T C 17: 46,723,433 (GRCm39) V1812A probably benign 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
R4715:Abcc2 UTSW 19 43,805,321 (GRCm39) missense possibly damaging 0.54
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
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
Posted On 2021-11-19