Incidental Mutation 'R7787:Abcc2'
ID 599633
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 045843-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7787 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 43770747-43826771 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 43772685 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 32 (V32M)
Ref Sequence ENSEMBL: ENSMUSP00000026208 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026208]
AlphaFold Q8VI47
Predicted Effect probably damaging
Transcript: ENSMUST00000026208
AA Change: V32M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026208
Gene: ENSMUSG00000025194
AA Change: V32M

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (74/74)
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310022A10Rik T A 7: 27,263,926 (GRCm39) I38N probably damaging Het
Abcb4 G A 5: 8,959,220 (GRCm39) V216M probably damaging Het
Adgrb3 C A 1: 25,471,625 (GRCm39) V714F probably damaging Het
Ahnak T A 19: 8,986,679 (GRCm39) D2654E unknown Het
Ak8 T A 2: 28,602,324 (GRCm39) I86N probably damaging Het
Apob G A 12: 8,040,780 (GRCm39) R635Q probably damaging Het
Atp10b G A 11: 43,150,700 (GRCm39) R1466H possibly damaging Het
Bltp1 A C 3: 36,939,557 (GRCm39) H137P probably damaging Het
Btnl9 T C 11: 49,066,866 (GRCm39) T252A unknown Het
Cacna1e T A 1: 154,358,314 (GRCm39) I648F probably damaging Het
Camkk1 A G 11: 72,917,412 (GRCm39) D121G probably benign Het
Cc2d1a C A 8: 84,860,144 (GRCm39) Q904H possibly damaging Het
Cd1d1 A G 3: 86,904,903 (GRCm39) S212P probably damaging Het
Cfap69 C T 5: 5,639,260 (GRCm39) C638Y probably damaging Het
Cilk1 G C 9: 78,074,902 (GRCm39) V586L probably benign Het
Clca4a A G 3: 144,659,594 (GRCm39) V754A probably benign Het
Cnpy4 T A 5: 138,190,900 (GRCm39) H187Q probably benign Het
Cpne5 A T 17: 29,407,261 (GRCm39) probably null Het
Crnkl1 A T 2: 145,767,515 (GRCm39) N359K probably benign Het
Cyb561 A T 11: 105,828,466 (GRCm39) L63H probably damaging Het
Dock4 A G 12: 40,775,676 (GRCm39) T540A probably benign Het
Edc4 T A 8: 106,614,146 (GRCm39) Y7* probably null Het
Fstl5 A C 3: 76,337,131 (GRCm39) D230A probably damaging Het
Fthl17b C T X: 8,829,043 (GRCm39) R9Q possibly damaging Het
Fthl17b C T X: 8,829,047 (GRCm39) V8M possibly damaging Het
H2bw2 G A X: 135,828,471 (GRCm39) R120K unknown Het
Hecw1 T C 13: 14,493,494 (GRCm39) Q337R probably damaging Het
Hmcn1 A T 1: 150,632,343 (GRCm39) Y865N probably damaging Het
Hyal6 A G 6: 24,743,735 (GRCm39) Y477C probably damaging Het
Ifi205 C T 1: 173,842,640 (GRCm39) G352E probably damaging Het
Ifi205 T A 1: 173,842,644 (GRCm39) S351C probably damaging Het
Irak3 C A 10: 120,012,256 (GRCm39) Q169H probably benign Het
Itgb1 T A 8: 129,453,499 (GRCm39) N99K probably benign Het
Kng2 A G 16: 22,818,598 (GRCm39) F298S probably damaging Het
Kri1 T C 9: 21,192,380 (GRCm39) E256G Het
Lamc3 T C 2: 31,790,551 (GRCm39) I257T probably damaging Het
Mas1 A C 17: 13,061,374 (GRCm39) N16K possibly damaging Het
Mdn1 T A 4: 32,741,794 (GRCm39) L3855Q probably damaging Het
Muc4 C G 16: 32,575,221 (GRCm39) Q1269E probably benign Het
Mybph G A 1: 134,125,246 (GRCm39) G258D probably benign Het
Mycbp2 A C 14: 103,364,533 (GRCm39) H4358Q probably damaging Het
Nat10 T C 2: 103,552,208 (GRCm39) D1012G unknown Het
Nub1 C A 5: 24,913,801 (GRCm39) Q561K probably benign Het
Nynrin A G 14: 56,107,980 (GRCm39) N1029S probably benign Het
Or52x1 A T 7: 104,853,252 (GRCm39) C99* probably null Het
Or56a4 T G 7: 104,806,401 (GRCm39) I163L probably benign Het
Or5k15 A G 16: 58,709,953 (GRCm39) F210S probably benign Het
Or6e1 A G 14: 54,520,169 (GRCm39) L61P probably damaging Het
Or8g19 C T 9: 39,055,548 (GRCm39) L51F probably benign Het
Pcsk1 T A 13: 75,280,277 (GRCm39) Y701N possibly damaging Het
Pglyrp4 C G 3: 90,640,295 (GRCm39) H182D probably damaging Het
Phaf1 T G 8: 105,957,820 (GRCm39) V42G probably damaging Het
Pkp4 C A 2: 59,152,881 (GRCm39) D576E probably damaging Het
Plec A G 15: 76,083,811 (GRCm39) V17A unknown Het
Polq T A 16: 36,837,671 (GRCm39) N194K probably damaging Het
Pou4f1 A T 14: 104,703,460 (GRCm39) M324K unknown Het
Ppa2 G T 3: 133,036,259 (GRCm39) G138W probably damaging Het
Prob1 A T 18: 35,785,285 (GRCm39) F990I possibly damaging Het
Proser1 T A 3: 53,380,969 (GRCm39) I182N probably damaging Het
Sgk3 T C 1: 9,952,016 (GRCm39) L214P probably damaging Het
Sipa1l1 T C 12: 82,496,762 (GRCm39) S1765P possibly damaging Het
Slc15a2 G A 16: 36,572,228 (GRCm39) S712L probably benign Het
Slc38a9 T C 13: 112,825,880 (GRCm39) L106P probably damaging Het
Slc43a2 G A 11: 75,453,900 (GRCm39) R271H probably damaging Het
Spsb4 T A 9: 96,877,643 (GRCm39) I227F probably damaging Het
Srgap3 C T 6: 112,752,520 (GRCm39) M321I probably benign Het
Stam2 T C 2: 52,596,418 (GRCm39) I340V probably benign Het
Tbc1d5 T A 17: 51,181,711 (GRCm39) R341* probably null Het
Terf2ip A C 8: 112,742,087 (GRCm39) E260D probably damaging Het
Tert G T 13: 73,797,051 (GRCm39) K1096N probably damaging Het
Ttc32 T A 12: 9,088,083 (GRCm39) D103E probably benign Het
Ube3d T A 9: 86,254,395 (GRCm39) Q362L possibly damaging Het
Unc5c G A 3: 141,474,313 (GRCm39) G295D probably damaging Het
Wnt7b T A 15: 85,428,112 (GRCm39) I117F probably damaging Het
Zcchc7 T C 4: 44,895,043 (GRCm39) probably null Het
Zfp619 A G 7: 39,186,226 (GRCm39) Q752R possibly damaging Het
Zkscan3 T C 13: 21,572,034 (GRCm39) K533E possibly 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
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
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'- ATGATGAGCCTGGAAATACACATAG -3'
(R):5'- ATGGCCCTACTTGAAGCAGG -3'

Sequencing Primer
(F):5'- GTATGTACCCACCAGTCTT -3'
(R):5'- TGGCCCTACTTGAAGCAGGATTAAC -3'
Posted On 2019-11-26