Incidental Mutation 'R0601:Abcc5'
ID 55452
Institutional Source Beutler Lab
Gene Symbol Abcc5
Ensembl Gene ENSMUSG00000022822
Gene Name ATP-binding cassette, sub-family C member 5
Synonyms 2900011L11Rik, Abcc5b, Abcc5a, Mrp5
MMRRC Submission 038790-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0601 (G1)
Quality Score 144
Status Validated
Chromosome 16
Chromosomal Location 20150053-20245144 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 20223309 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077867] [ENSMUST00000079158] [ENSMUST00000096199] [ENSMUST00000115547]
AlphaFold Q9R1X5
Predicted Effect probably benign
Transcript: ENSMUST00000077867
SMART Domains Protein: ENSMUSP00000077031
Gene: ENSMUSG00000022822

DomainStartEndE-ValueType
Pfam:ABC_membrane 179 447 1.6e-18 PFAM
Blast:AAA 463 512 2e-22 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000079158
SMART Domains Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822

DomainStartEndE-ValueType
Pfam:ABC_membrane 179 447 1.6e-18 PFAM
low complexity region 552 563 N/A INTRINSIC
AAA 587 760 1.16e-12 SMART
low complexity region 815 826 N/A INTRINSIC
Pfam:ABC_membrane 858 1142 9.3e-36 PFAM
AAA 1218 1403 1.26e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000096199
Predicted Effect probably benign
Transcript: ENSMUST00000115547
SMART Domains Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822

DomainStartEndE-ValueType
Pfam:ABC_membrane 179 447 2e-17 PFAM
low complexity region 552 563 N/A INTRINSIC
AAA 587 760 1.16e-12 SMART
low complexity region 815 826 N/A INTRINSIC
Pfam:ABC_membrane 858 1146 6.5e-30 PFAM
AAA 1218 1403 1.26e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231522
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.6%
  • 20x: 95.2%
Validation Efficiency 98% (119/122)
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. The human protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that the human protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display normal cGMP transport into erythrocyte membrane vesicles. [provided by MGI curators]
Allele List at MGI

All alleles(81) : Targeted(4) Gene trapped(77)

Other mutations in this stock
Total: 119 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,532,146 (GRCm39) D143A probably damaging Het
Abca9 C T 11: 110,007,884 (GRCm39) probably null Het
Ablim3 T A 18: 61,982,441 (GRCm39) D168V probably benign Het
Acsl3 C T 1: 78,673,896 (GRCm39) S352F probably damaging Het
Adgrl4 A T 3: 151,204,066 (GRCm39) probably benign Het
Arhgap29 A G 3: 121,784,759 (GRCm39) K229E probably damaging Het
Atad3a A T 4: 155,831,864 (GRCm39) V470D probably damaging Het
Atp8b1 A G 18: 64,704,724 (GRCm39) probably null Het
Bcl2 G A 1: 106,640,292 (GRCm39) R107C probably damaging Het
Bpifa5 A G 2: 154,006,175 (GRCm39) N121S possibly damaging Het
Bpifb4 G A 2: 153,789,203 (GRCm39) probably benign Het
Bptf T A 11: 106,952,518 (GRCm39) T2112S probably benign Het
Btnl4 T C 17: 34,688,285 (GRCm39) K498E probably benign Het
Calhm2 A G 19: 47,129,469 (GRCm39) probably null Het
Capn3 A T 2: 120,333,077 (GRCm39) probably null Het
Caps2 T C 10: 112,031,695 (GRCm39) F265L possibly damaging Het
Casp3 G T 8: 47,089,262 (GRCm39) C170F probably benign Het
Ccdc39 T C 3: 33,873,988 (GRCm39) R615G probably damaging Het
Cd177 A G 7: 24,451,738 (GRCm39) I426T probably benign Het
Cfap53 G A 18: 74,433,221 (GRCm39) R102H possibly damaging Het
Cfhr3 G A 1: 139,521,623 (GRCm39) noncoding transcript Het
Col7a1 T C 9: 108,809,652 (GRCm39) probably benign Het
Cplx3 T C 9: 57,513,357 (GRCm39) E24G possibly damaging Het
Dhx30 A G 9: 109,915,782 (GRCm39) probably null Het
Dnah8 T A 17: 30,927,332 (GRCm39) N1329K probably benign Het
Dnajc11 C G 4: 152,054,393 (GRCm39) R200G probably damaging Het
Dok3 A T 13: 55,672,076 (GRCm39) F201I probably benign Het
Dpf2 A T 19: 5,952,240 (GRCm39) H303Q probably damaging Het
Dtnb A G 12: 3,785,039 (GRCm39) probably benign Het
Dync2i1 T C 12: 116,219,555 (GRCm39) D129G possibly damaging Het
Elk3 T C 10: 93,101,343 (GRCm39) E136G probably damaging Het
Ephb1 T C 9: 102,072,329 (GRCm39) D150G probably damaging Het
Erbb3 A G 10: 128,412,881 (GRCm39) S570P probably benign Het
F2 A T 2: 91,463,656 (GRCm39) probably null Het
Fanca A T 8: 124,035,252 (GRCm39) M231K probably damaging Het
Fbxo34 T C 14: 47,767,714 (GRCm39) V358A probably benign Het
Foxp1 C T 6: 98,907,083 (GRCm39) E666K probably damaging Het
Fto A G 8: 92,128,430 (GRCm39) probably null Het
Gbp2 C T 3: 142,336,519 (GRCm39) R290C possibly damaging Het
Gm57859 T A 11: 113,578,712 (GRCm39) S36T probably benign Het
Grik2 T G 10: 49,298,693 (GRCm39) S343R probably damaging Het
Heatr5b A T 17: 79,075,974 (GRCm39) M1448K probably benign Het
Hmgn3 A T 9: 83,028,482 (GRCm39) probably null Het
Htt T C 5: 35,003,347 (GRCm39) V1274A probably benign Het
Kcnh8 A G 17: 53,201,033 (GRCm39) D489G probably damaging Het
Kcnip3 A T 2: 127,300,317 (GRCm39) probably benign Het
Kdm5a A G 6: 120,379,632 (GRCm39) T647A possibly damaging Het
Krt72 T C 15: 101,694,491 (GRCm39) R135G probably damaging Het
Larp7 T A 3: 127,337,858 (GRCm39) K400N probably damaging Het
Lifr T C 15: 7,198,753 (GRCm39) probably null Het
Lima1 G A 15: 99,678,353 (GRCm39) P696L probably damaging Het
Lrrc8e T G 8: 4,285,239 (GRCm39) probably null Het
Map1a A G 2: 121,129,083 (GRCm39) R116G probably damaging Het
Map3k13 A G 16: 21,723,999 (GRCm39) E327G possibly damaging Het
Med13 A G 11: 86,236,788 (GRCm39) V123A possibly damaging Het
Megf8 A C 7: 25,027,965 (GRCm39) H205P probably benign Het
Met G A 6: 17,555,631 (GRCm39) probably null Het
Mfsd14b A C 13: 65,234,964 (GRCm39) V71G possibly damaging Het
Mpl T A 4: 118,300,733 (GRCm39) T599S probably benign Het
Myh15 A T 16: 48,881,944 (GRCm39) D62V probably damaging Het
Myo5a A G 9: 75,081,297 (GRCm39) T961A probably benign Het
Myrfl A G 10: 116,612,665 (GRCm39) Y895H probably damaging Het
Nap1l1 T C 10: 111,326,224 (GRCm39) probably benign Het
Ncapd3 T A 9: 26,952,803 (GRCm39) Y111N probably benign Het
Nlrc3 A G 16: 3,766,113 (GRCm39) probably benign Het
Nsun2 G T 13: 69,781,361 (GRCm39) V657L probably benign Het
Or10g1b C A 14: 52,627,283 (GRCm39) G316* probably null Het
Or4a74 T A 2: 89,439,564 (GRCm39) N294I probably benign Het
Or4b13 T C 2: 90,083,278 (GRCm39) D18G probably benign Het
Or52d1 A T 7: 103,756,349 (GRCm39) I288F possibly damaging Het
Or52e19 T C 7: 102,959,371 (GRCm39) S148P probably damaging Het
Or5k3 G A 16: 58,970,117 (GRCm39) M301I probably benign Het
Or5m13b A T 2: 85,753,722 (GRCm39) I37F probably benign Het
Or6c68 T A 10: 129,157,885 (GRCm39) M131K possibly damaging Het
Osbpl3 A T 6: 50,276,383 (GRCm39) V795D probably benign Het
Osbpl5 T C 7: 143,263,286 (GRCm39) D155G probably damaging Het
Parm1 G A 5: 91,742,123 (GRCm39) V164I probably benign Het
Pgd A T 4: 149,241,267 (GRCm39) probably benign Het
Pkp1 G A 1: 135,805,920 (GRCm39) R593W probably damaging Het
Polr2l A T 7: 141,053,255 (GRCm39) V53E probably damaging Het
Ppp4c G T 7: 126,386,460 (GRCm39) T29K probably benign Het
Ppp4r4 T A 12: 103,566,779 (GRCm39) probably benign Het
Ptprd A G 4: 76,018,711 (GRCm39) S688P probably benign Het
Rab3b A T 4: 108,747,586 (GRCm39) I28F probably damaging Het
Rnase4 T C 14: 51,342,552 (GRCm39) L92P probably benign Het
Rnpc3 T C 3: 113,413,755 (GRCm39) E229G probably benign Het
Rtraf A T 14: 19,866,274 (GRCm39) D147E possibly damaging Het
Rttn G A 18: 89,061,090 (GRCm39) G1086D probably benign Het
Ryr2 A G 13: 11,720,519 (GRCm39) probably null Het
Sft2d2 T C 1: 165,011,430 (GRCm39) I126V probably benign Het
Skap1 G T 11: 96,614,236 (GRCm39) probably benign Het
Slc14a2 A T 18: 78,200,394 (GRCm39) L753* probably null Het
Slc25a5 G A X: 36,059,408 (GRCm39) A9T probably benign Het
Slc30a5 T C 13: 100,951,278 (GRCm39) probably benign Het
Slc5a4b A C 10: 75,899,870 (GRCm39) I456S possibly damaging Het
Slc9a4 A T 1: 40,642,230 (GRCm39) S400C probably damaging Het
Slx1b T A 7: 126,291,812 (GRCm39) H84L probably damaging Het
Sptbn1 T C 11: 30,100,008 (GRCm39) Y190C probably damaging Het
Stk32b T C 5: 37,688,910 (GRCm39) Q138R probably damaging Het
Syt6 C A 3: 103,528,206 (GRCm39) D308E probably damaging Het
Sytl2 G A 7: 90,044,374 (GRCm39) D572N probably damaging Het
Taok2 A T 7: 126,478,605 (GRCm39) L109Q probably damaging Het
Tbl1xr1 T C 3: 22,233,483 (GRCm39) probably benign Het
Tlk1 A G 2: 70,544,502 (GRCm39) I711T probably benign Het
Trf A G 9: 103,100,132 (GRCm39) probably null Het
Trpc2 A G 7: 101,733,572 (GRCm39) T548A possibly damaging Het
Ttbk2 A T 2: 120,655,777 (GRCm39) I29N possibly damaging Het
Tti1 A T 2: 157,835,292 (GRCm39) C989S probably damaging Het
Txndc8 A G 4: 58,000,256 (GRCm39) Y108H probably benign Het
Ugt2b1 A T 5: 87,065,539 (GRCm39) V500D possibly damaging Het
Vmn1r34 A G 6: 66,614,648 (GRCm39) I30T possibly damaging Het
Vmn2r115 A G 17: 23,579,074 (GRCm39) K849R probably null Het
Vmn2r76 T A 7: 85,875,323 (GRCm39) probably null Het
Vps13c T A 9: 67,834,754 (GRCm39) S1694R probably benign Het
Wdfy3 G T 5: 101,984,038 (GRCm39) P3509T probably benign Het
Wdr59 GGGTGGTG GGGTG 8: 112,207,172 (GRCm39) probably benign Het
Wnt8b T A 19: 44,482,106 (GRCm39) W40R probably benign Het
Xrra1 A G 7: 99,560,175 (GRCm39) I384V possibly damaging Het
Zfp11 A T 5: 129,734,971 (GRCm39) H163Q probably damaging Het
Other mutations in Abcc5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00917:Abcc5 APN 16 20,241,107 (GRCm39) missense probably benign 0.01
IGL00928:Abcc5 APN 16 20,217,720 (GRCm39) unclassified probably benign
IGL01350:Abcc5 APN 16 20,187,208 (GRCm39) missense probably benign 0.00
IGL01774:Abcc5 APN 16 20,197,207 (GRCm39) missense probably damaging 1.00
IGL01934:Abcc5 APN 16 20,241,191 (GRCm39) utr 5 prime probably benign
IGL02413:Abcc5 APN 16 20,241,187 (GRCm39) utr 5 prime probably benign
IGL02426:Abcc5 APN 16 20,157,675 (GRCm39) missense probably damaging 0.98
IGL02797:Abcc5 APN 16 20,187,214 (GRCm39) missense probably benign 0.06
IGL02938:Abcc5 APN 16 20,180,979 (GRCm39) missense possibly damaging 0.64
IGL03367:Abcc5 APN 16 20,211,561 (GRCm39) utr 3 prime probably benign
IGL03411:Abcc5 APN 16 20,218,310 (GRCm39) missense probably damaging 0.97
PIT4508001:Abcc5 UTSW 16 20,176,128 (GRCm39) missense probably damaging 0.97
R0021:Abcc5 UTSW 16 20,197,411 (GRCm39) nonsense probably null
R0021:Abcc5 UTSW 16 20,197,411 (GRCm39) nonsense probably null
R0220:Abcc5 UTSW 16 20,187,852 (GRCm39) missense probably benign
R0281:Abcc5 UTSW 16 20,241,150 (GRCm39) missense probably damaging 1.00
R0401:Abcc5 UTSW 16 20,195,308 (GRCm39) missense probably benign 0.09
R0448:Abcc5 UTSW 16 20,218,687 (GRCm39) missense probably damaging 1.00
R0477:Abcc5 UTSW 16 20,217,635 (GRCm39) missense probably damaging 0.96
R0477:Abcc5 UTSW 16 20,187,319 (GRCm39) missense possibly damaging 0.51
R0648:Abcc5 UTSW 16 20,184,632 (GRCm39) missense possibly damaging 0.90
R0709:Abcc5 UTSW 16 20,195,342 (GRCm39) missense possibly damaging 0.91
R1144:Abcc5 UTSW 16 20,241,188 (GRCm39) utr 5 prime probably benign
R1552:Abcc5 UTSW 16 20,217,617 (GRCm39) missense probably damaging 0.99
R1625:Abcc5 UTSW 16 20,184,567 (GRCm39) missense probably damaging 0.99
R1748:Abcc5 UTSW 16 20,152,338 (GRCm39) missense probably benign 0.01
R1789:Abcc5 UTSW 16 20,184,701 (GRCm39) missense probably damaging 1.00
R1801:Abcc5 UTSW 16 20,157,637 (GRCm39) missense probably benign 0.43
R1909:Abcc5 UTSW 16 20,195,259 (GRCm39) critical splice donor site probably null
R2046:Abcc5 UTSW 16 20,218,567 (GRCm39) missense possibly damaging 0.90
R2203:Abcc5 UTSW 16 20,224,632 (GRCm39) missense possibly damaging 0.91
R3031:Abcc5 UTSW 16 20,193,863 (GRCm39) missense probably damaging 0.99
R3417:Abcc5 UTSW 16 20,224,302 (GRCm39) splice site probably benign
R3708:Abcc5 UTSW 16 20,190,930 (GRCm39) missense probably benign 0.30
R3731:Abcc5 UTSW 16 20,217,684 (GRCm39) nonsense probably null
R3829:Abcc5 UTSW 16 20,184,615 (GRCm39) missense probably benign 0.00
R3847:Abcc5 UTSW 16 20,190,906 (GRCm39) missense probably benign 0.12
R3850:Abcc5 UTSW 16 20,190,906 (GRCm39) missense probably benign 0.12
R3955:Abcc5 UTSW 16 20,224,293 (GRCm39) missense probably damaging 0.97
R4072:Abcc5 UTSW 16 20,152,445 (GRCm39) missense probably damaging 1.00
R4432:Abcc5 UTSW 16 20,186,937 (GRCm39) splice site probably null
R4433:Abcc5 UTSW 16 20,186,937 (GRCm39) splice site probably null
R4505:Abcc5 UTSW 16 20,152,445 (GRCm39) missense probably damaging 1.00
R4506:Abcc5 UTSW 16 20,152,445 (GRCm39) missense probably damaging 1.00
R4715:Abcc5 UTSW 16 20,217,626 (GRCm39) missense probably damaging 1.00
R4739:Abcc5 UTSW 16 20,218,376 (GRCm39) missense probably damaging 1.00
R4866:Abcc5 UTSW 16 20,241,182 (GRCm39) start codon destroyed probably null 1.00
R4905:Abcc5 UTSW 16 20,218,678 (GRCm39) missense probably damaging 1.00
R4907:Abcc5 UTSW 16 20,195,296 (GRCm39) missense possibly damaging 0.86
R5088:Abcc5 UTSW 16 20,195,412 (GRCm39) missense probably damaging 1.00
R5232:Abcc5 UTSW 16 20,157,672 (GRCm39) missense probably damaging 0.96
R5559:Abcc5 UTSW 16 20,157,636 (GRCm39) missense probably damaging 1.00
R5647:Abcc5 UTSW 16 20,218,597 (GRCm39) missense probably damaging 1.00
R5861:Abcc5 UTSW 16 20,218,644 (GRCm39) missense probably damaging 1.00
R6190:Abcc5 UTSW 16 20,211,529 (GRCm39) missense probably benign 0.02
R6213:Abcc5 UTSW 16 20,218,762 (GRCm39) missense probably damaging 1.00
R6511:Abcc5 UTSW 16 20,195,344 (GRCm39) missense probably damaging 0.99
R6732:Abcc5 UTSW 16 20,223,434 (GRCm39) missense probably benign 0.01
R6815:Abcc5 UTSW 16 20,152,380 (GRCm39) missense probably damaging 1.00
R6913:Abcc5 UTSW 16 20,197,494 (GRCm39) missense possibly damaging 0.73
R6945:Abcc5 UTSW 16 20,218,759 (GRCm39) missense probably benign
R7167:Abcc5 UTSW 16 20,224,251 (GRCm39) missense possibly damaging 0.70
R7276:Abcc5 UTSW 16 20,195,258 (GRCm39) splice site probably null
R7318:Abcc5 UTSW 16 20,211,293 (GRCm39) missense probably benign 0.01
R7380:Abcc5 UTSW 16 20,215,784 (GRCm39) missense possibly damaging 0.84
R7419:Abcc5 UTSW 16 20,241,173 (GRCm39) missense possibly damaging 0.57
R7451:Abcc5 UTSW 16 20,193,820 (GRCm39) missense probably damaging 1.00
R7475:Abcc5 UTSW 16 20,218,739 (GRCm39) missense probably benign 0.04
R7567:Abcc5 UTSW 16 20,224,260 (GRCm39) missense probably damaging 1.00
R7601:Abcc5 UTSW 16 20,193,882 (GRCm39) nonsense probably null
R7623:Abcc5 UTSW 16 20,163,446 (GRCm39) missense possibly damaging 0.95
R7682:Abcc5 UTSW 16 20,186,803 (GRCm39) missense probably damaging 1.00
R8128:Abcc5 UTSW 16 20,184,473 (GRCm39) missense probably damaging 0.98
R8327:Abcc5 UTSW 16 20,241,068 (GRCm39) missense probably benign 0.00
R8518:Abcc5 UTSW 16 20,223,398 (GRCm39) missense possibly damaging 0.80
R8678:Abcc5 UTSW 16 20,184,685 (GRCm39) missense probably benign 0.31
R8679:Abcc5 UTSW 16 20,152,479 (GRCm39) missense possibly damaging 0.89
R9206:Abcc5 UTSW 16 20,208,139 (GRCm39) missense probably benign 0.00
R9254:Abcc5 UTSW 16 20,152,437 (GRCm39) missense probably damaging 1.00
R9379:Abcc5 UTSW 16 20,152,437 (GRCm39) missense probably damaging 1.00
R9501:Abcc5 UTSW 16 20,214,853 (GRCm39) missense probably damaging 1.00
R9647:Abcc5 UTSW 16 20,195,310 (GRCm39) missense probably benign 0.01
X0022:Abcc5 UTSW 16 20,211,337 (GRCm39) missense probably damaging 1.00
X0053:Abcc5 UTSW 16 20,182,792 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGGACAACAAGCCAGCAGTTTCTTC -3'
(R):5'- TGTGTAACACAGGACATGTGCCC -3'

Sequencing Primer
(F):5'- TTCTTAACAGTCTAGCTGACAAGCC -3'
(R):5'- AGGACATGTGCCCTTGTTAAGAC -3'
Posted On 2013-07-11