Incidental Mutation 'R9647:Abcc5'
ID 726833
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
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9647 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 20150053-20245144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 20195310 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 729 (R729L)
Ref Sequence ENSEMBL: ENSMUSP00000078158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079158] [ENSMUST00000115547] [ENSMUST00000232044]
AlphaFold Q9R1X5
Predicted Effect probably benign
Transcript: ENSMUST00000079158
AA Change: R729L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: R729L

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: ENSMUST00000115547
AA Change: R729L

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: R729L

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 probably benign
Transcript: ENSMUST00000232044
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3b T C 5: 26,037,408 (GRCm39) S295P probably benign Het
Alb G A 5: 90,620,544 (GRCm39) probably null Het
Ank2 T A 3: 126,792,623 (GRCm39) N756I possibly damaging Het
Ankar A G 1: 72,689,307 (GRCm39) Y1275H probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Birc6 G A 17: 74,999,305 (GRCm39) V4678M probably damaging Het
Bmpr1a A G 14: 34,136,694 (GRCm39) V499A probably benign Het
Ccdc142 A G 6: 83,079,259 (GRCm39) N199D probably benign Het
Ccdc179 G T 7: 51,663,311 (GRCm39) Y38* probably null Het
Cdhr2 A T 13: 54,867,394 (GRCm39) M438L probably benign Het
Cfap74 A T 4: 155,549,373 (GRCm39) Q78L unknown Het
Crocc A T 4: 140,774,335 (GRCm39) S155T probably benign Het
Depdc5 T A 5: 33,081,567 (GRCm39) H576Q possibly damaging Het
Dhx30 A T 9: 109,922,214 (GRCm39) L156Q probably damaging Het
Dido1 T A 2: 180,315,068 (GRCm39) T795S probably benign Het
Dlx1 T C 2: 71,360,476 (GRCm39) S47P probably benign Het
Dspp G A 5: 104,323,636 (GRCm39) A260T possibly damaging Het
Ephx2 T C 14: 66,326,957 (GRCm39) T413A probably benign Het
Erp44 A C 4: 48,205,166 (GRCm39) L276V probably benign Het
Fastkd5 T A 2: 130,457,729 (GRCm39) Q287L probably damaging Het
Foxh1 T A 15: 76,553,460 (GRCm39) H114L possibly damaging Het
Fry A T 5: 150,292,984 (GRCm39) L410F probably damaging Het
Gamt T A 10: 80,095,672 (GRCm39) H86L probably damaging Het
Gdpd5 G T 7: 99,104,241 (GRCm39) R483L probably benign Het
Gm17067 A C 7: 42,357,569 (GRCm39) V311G probably benign Het
Gpatch2 C T 1: 187,054,542 (GRCm39) T422I probably damaging Het
Gpi1 A G 7: 33,901,879 (GRCm39) I546T probably damaging Het
Gyg1 A C 3: 20,177,007 (GRCm39) S328A probably benign Het
Heatr1 T A 13: 12,441,679 (GRCm39) V1491E probably benign Het
Hrob A T 11: 102,146,586 (GRCm39) Q287H possibly damaging Het
Ildr2 T C 1: 166,137,038 (GRCm39) S626P probably benign Het
Insr T G 8: 3,205,874 (GRCm39) E1305A probably benign Het
Iqca1 T A 1: 89,998,258 (GRCm39) T572S probably benign Het
Kdm4a A T 4: 118,003,790 (GRCm39) M762K probably benign Het
Kdm4a T A 4: 118,017,399 (GRCm39) T556S probably benign Het
Lama1 A G 17: 68,024,170 (GRCm39) I89M Het
Larp7 T C 3: 127,334,211 (GRCm39) K539E probably damaging Het
Mmadhc C A 2: 50,186,482 (GRCm39) probably benign Het
Mmp2 A G 8: 93,567,114 (GRCm39) D478G probably damaging Het
Nat10 T C 2: 103,578,538 (GRCm39) Q222R probably benign Het
Nlgn1 A T 3: 25,488,182 (GRCm39) Y718N probably damaging Het
Nlrp5 A T 7: 23,107,576 (GRCm39) E83V probably benign Het
Odc1 T C 12: 17,598,614 (GRCm39) V218A possibly damaging Het
Or10al4 A T 17: 38,037,796 (GRCm39) I294F probably damaging Het
Or11g26 G C 14: 50,753,552 (GRCm39) R297T probably damaging Het
Or9r3 A G 10: 129,948,029 (GRCm39) I210T probably damaging Het
Oxsr1 G A 9: 119,083,932 (GRCm39) S324F probably damaging Het
Pclo C T 5: 14,731,788 (GRCm39) T304M Het
Pgghg A G 7: 140,526,743 (GRCm39) R687G possibly damaging Het
Plxna4 A G 6: 32,228,044 (GRCm39) S521P probably damaging Het
Rasgrp4 A G 7: 28,839,917 (GRCm39) S172G probably damaging Het
Rora A G 9: 69,255,450 (GRCm39) D78G probably damaging Het
Sec1 G T 7: 45,328,556 (GRCm39) R164S probably benign Het
Sesn3 A G 9: 14,225,999 (GRCm39) N245D probably benign Het
Slc44a5 T A 3: 153,953,370 (GRCm39) W251R possibly damaging Het
Ssr2 T C 3: 88,487,206 (GRCm39) V7A possibly damaging Het
Syne2 A G 12: 76,151,875 (GRCm39) D1912G possibly damaging Het
Tcea2 C A 2: 181,322,984 (GRCm39) T1N probably benign Het
Tmem131l T C 3: 83,836,018 (GRCm39) Y697C probably damaging Het
Tmx4 T C 2: 134,481,588 (GRCm39) M112V probably benign Het
Tom1 G T 8: 75,785,495 (GRCm39) A330S probably benign Het
Trip4 A T 9: 65,765,616 (GRCm39) L361* probably null Het
Trmt9b T C 8: 36,979,210 (GRCm39) I271T probably benign Het
Trp73 T G 4: 154,165,788 (GRCm39) T142P probably damaging Het
Trpm5 T A 7: 142,634,498 (GRCm39) D683V possibly damaging Het
Trpm7 T C 2: 126,667,562 (GRCm39) I810V probably damaging Het
Trps1 A T 15: 50,524,944 (GRCm39) S995R probably benign Het
Ttn C A 2: 76,608,269 (GRCm39) E17885* probably null Het
Uggt2 A T 14: 119,256,312 (GRCm39) Y1120N probably damaging Het
Unc13a A T 8: 72,104,882 (GRCm39) N793K probably damaging Het
Vcf1 T C 11: 113,568,146 (GRCm39) D103G probably damaging Het
Vmn2r94 T C 17: 18,463,884 (GRCm39) H802R probably benign Het
Vmn2r-ps158 T C 7: 42,697,171 (GRCm39) C743R probably damaging Het
Zdhhc5 A T 2: 84,524,750 (GRCm39) M190K probably benign Het
Zfp719 A T 7: 43,233,602 (GRCm39) N7I possibly damaging Het
Zfp735 A G 11: 73,580,600 (GRCm39) Y33C probably damaging Het
Zgrf1 C T 3: 127,355,251 (GRCm39) T159I probably benign Het
Zzef1 A T 11: 72,760,651 (GRCm39) T1325S probably benign 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
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
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'- CACACAAAGGACTGCTACGTTG -3'
(R):5'- AAAGATGACTGGGGTGCCTG -3'

Sequencing Primer
(F):5'- CAAAGGACTGCTACGTTGGCTATTTG -3'
(R):5'- GCGCTCTTCTAGATTTAAGATAGAGG -3'
Posted On 2022-10-06