Incidental Mutation 'IGL01934:Abcc5'
ID 180595
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcc5
Ensembl Gene ENSMUSG00000022822
Gene Name ATP-binding cassette, sub-family C member 5
Synonyms 2900011L11Rik, Abcc5b, Abcc5a, Mrp5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01934
Quality Score
Status
Chromosome 16
Chromosomal Location 20150053-20245144 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) A to T at 20241191 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: ENSMUST00000134962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231522
Coding Region Coverage
Validation Efficiency
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,823,112 (GRCm39) K362E probably damaging Het
4932438H23Rik T A 16: 90,852,753 (GRCm39) T128S probably damaging Het
Aars1 T A 8: 111,774,650 (GRCm39) I593N probably damaging Het
Abca6 A T 11: 110,079,481 (GRCm39) N1224K probably benign Het
Adam7 A G 14: 68,770,048 (GRCm39) L35P probably damaging Het
Ahnak T A 19: 8,980,021 (GRCm39) L435Q probably damaging Het
Ankef1 A G 2: 136,394,451 (GRCm39) E620G possibly damaging Het
Aoc1l3 A T 6: 48,965,695 (GRCm39) I568F probably damaging Het
Ap3d1 A T 10: 80,545,092 (GRCm39) L1082* probably null Het
Atp6v0a4 T A 6: 38,028,481 (GRCm39) I712F possibly damaging Het
Bco1 T A 8: 117,822,784 (GRCm39) F5L possibly damaging Het
Cacna2d4 A T 6: 119,285,729 (GRCm39) S794C probably damaging Het
Camk2d T C 3: 126,628,304 (GRCm39) probably null Het
Capn15 T C 17: 26,181,998 (GRCm39) T604A probably damaging Het
Cd180 A T 13: 102,839,366 (GRCm39) D83V probably damaging Het
Ces1a C A 8: 93,759,278 (GRCm39) R286L probably damaging Het
Col6a6 A G 9: 105,575,858 (GRCm39) probably null Het
Crnkl1 A G 2: 145,773,202 (GRCm39) V148A probably benign Het
Epas1 A T 17: 87,131,157 (GRCm39) K312N probably damaging Het
Fbxw2 T C 2: 34,712,618 (GRCm39) S148G probably damaging Het
Fig4 T C 10: 41,104,108 (GRCm39) T791A probably benign Het
Galnt9 A T 5: 110,750,502 (GRCm39) I340F possibly damaging Het
Gfap G A 11: 102,785,286 (GRCm39) A230V probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm454 T C 5: 138,205,424 (GRCm39) noncoding transcript Het
Il24 A T 1: 130,811,614 (GRCm39) L115Q probably damaging Het
Ipp C A 4: 116,367,852 (GRCm39) N28K probably damaging Het
Kalrn A T 16: 34,018,882 (GRCm39) probably null Het
Klf10 C T 15: 38,297,528 (GRCm39) V171M probably benign Het
Man1b1 T C 2: 25,235,523 (GRCm39) S350P probably benign Het
Mfsd4a T C 1: 131,974,049 (GRCm39) Y343C probably damaging Het
Mrpl58 C A 11: 115,301,555 (GRCm39) probably benign Het
Myo7b A G 18: 32,134,394 (GRCm39) probably null Het
Nbas T C 12: 13,339,880 (GRCm39) probably benign Het
Nisch A G 14: 30,898,696 (GRCm39) probably benign Het
Or1o2 A T 17: 37,542,439 (GRCm39) V274D probably damaging Het
Or52z14 T C 7: 103,253,182 (GRCm39) F107S probably damaging Het
Or5p69 A G 7: 107,967,368 (GRCm39) I224V probably damaging Het
Parva T A 7: 112,187,760 (GRCm39) C352* probably null Het
Ptf1a T A 2: 19,451,431 (GRCm39) C254S possibly damaging Het
R3hdm1 G T 1: 128,164,272 (GRCm39) R1062L probably benign Het
Rnf44 A G 13: 54,829,763 (GRCm39) V407A probably damaging Het
Shank3 T C 15: 89,434,049 (GRCm39) L1598P probably damaging Het
Slit2 T C 5: 48,395,747 (GRCm39) S717P possibly damaging Het
Tdpoz4 A G 3: 93,704,779 (GRCm39) K359E probably damaging Het
Tmtc4 A T 14: 123,165,047 (GRCm39) L604* probably null Het
Tnfrsf21 A T 17: 43,376,078 (GRCm39) N488I probably benign Het
Tnfsf8 A G 4: 63,752,747 (GRCm39) probably benign Het
Tnpo3 A T 6: 29,575,019 (GRCm39) L382M probably benign Het
Tut1 T C 19: 8,931,355 (GRCm39) C18R probably damaging Het
Ugt8a A G 3: 125,708,424 (GRCm39) S229P probably benign Het
Usp22 T C 11: 61,046,114 (GRCm39) E476G probably damaging Het
Vill G T 9: 118,895,877 (GRCm39) A146S probably damaging Het
Vmn1r178 T C 7: 23,593,362 (GRCm39) Y137H probably damaging Het
Wdfy1 A T 1: 79,717,833 (GRCm39) W51R probably damaging Het
Zc3hav1 A T 6: 38,296,768 (GRCm39) probably null Het
Zfp236 A T 18: 82,651,245 (GRCm39) V889E probably damaging Het
Zscan20 T C 4: 128,486,277 (GRCm39) D141G possibly 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
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
R0601:Abcc5 UTSW 16 20,223,309 (GRCm39) splice site probably benign
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
Posted On 2014-05-07