Incidental Mutation 'R4907:Abcc5'
ID 379139
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 042509-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4907 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 20150053-20245144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20195296 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 734 (S734P)
Ref Sequence ENSEMBL: ENSMUSP00000111209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079158] [ENSMUST00000115547] [ENSMUST00000232044]
AlphaFold Q9R1X5
Predicted Effect possibly damaging
Transcript: ENSMUST00000079158
AA Change: S734P

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: S734P

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 possibly damaging
Transcript: ENSMUST00000115547
AA Change: S734P

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: S734P

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: ENSMUST00000127582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150340
Predicted Effect probably benign
Transcript: ENSMUST00000232044
Meta Mutation Damage Score 0.1751 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.1%
Validation Efficiency 98% (89/91)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700066M21Rik G T 1: 57,422,350 (GRCm39) G242V probably damaging Het
4933412E24Rik T C 15: 59,887,957 (GRCm39) E161G probably benign Het
Actn1 T G 12: 80,228,188 (GRCm39) H394P probably damaging Het
Adam8 A T 7: 139,569,286 (GRCm39) D144E probably benign Het
Ankrd50 A T 3: 38,510,824 (GRCm39) N514K probably damaging Het
Ankrd50 T A 3: 38,509,122 (GRCm39) K1082* probably null Het
Atp4a A G 7: 30,418,517 (GRCm39) I602V possibly damaging Het
Baz2a A G 10: 127,946,677 (GRCm39) T64A probably damaging Het
Btbd19 A G 4: 116,977,764 (GRCm39) probably benign Het
Casz1 T A 4: 149,028,998 (GRCm39) S1148T probably damaging Het
Ccdc18 T A 5: 108,284,007 (GRCm39) D103E probably benign Het
Cd209d T C 8: 3,927,948 (GRCm39) N52S probably benign Het
Cdh20 T A 1: 110,066,053 (GRCm39) Y776N probably damaging Het
Cdk14 A G 5: 5,299,140 (GRCm39) V101A probably damaging Het
Cldn22 T C 8: 48,277,742 (GRCm39) V60A probably benign Het
Clec10a G A 11: 70,060,797 (GRCm39) G183D probably benign Het
Cnga3 T C 1: 37,281,023 (GRCm39) probably null Het
Cts3 A T 13: 61,714,634 (GRCm39) F224I probably benign Het
Dync2i2 A G 2: 29,922,472 (GRCm39) probably null Het
Fbxo40 A G 16: 36,790,064 (GRCm39) Y349H probably benign Het
Flt1 C A 5: 147,620,749 (GRCm39) A132S probably benign Het
Gm10029 A T 13: 6,712,592 (GRCm39) noncoding transcript Het
Gm14399 T A 2: 174,973,182 (GRCm39) probably benign Het
Gm9932 T C 5: 100,347,014 (GRCm39) noncoding transcript Het
Immp1l A G 2: 105,767,462 (GRCm39) Y107C probably damaging Het
Ism1 G T 2: 139,520,672 (GRCm39) G28V probably benign Het
Klf1 C A 8: 85,629,814 (GRCm39) S213* probably null Het
Krt12 T C 11: 99,309,188 (GRCm39) E329G probably damaging Het
Lama2 A T 10: 27,040,942 (GRCm39) N1460K probably benign Het
Llgl2 T A 11: 115,744,800 (GRCm39) Y932* probably null Het
Lrrc7 T C 3: 157,866,877 (GRCm39) I955V probably damaging Het
Ltbp1 A G 17: 75,312,899 (GRCm39) R7G probably benign Het
Mcm3ap A G 10: 76,329,275 (GRCm39) E1152G probably damaging Het
Mgam2-ps T C 6: 40,811,677 (GRCm39) noncoding transcript Het
Mical3 T A 6: 120,984,259 (GRCm39) M206L probably benign Het
Mndal T G 1: 173,690,256 (GRCm39) N358T probably damaging Het
Nckap5 A G 1: 125,953,889 (GRCm39) S824P possibly damaging Het
Ndufb2 T C 6: 39,573,554 (GRCm39) probably benign Het
Nfatc3 C A 8: 106,806,359 (GRCm39) H401Q probably damaging Het
Npas2 T C 1: 39,401,066 (GRCm39) V810A unknown Het
Nt5c2 A G 19: 46,884,978 (GRCm39) V245A possibly damaging Het
Or1j4 A T 2: 36,740,270 (GRCm39) I71F probably benign Het
Or4d5 A T 9: 40,011,955 (GRCm39) M277K probably benign Het
Or51ah3 A G 7: 103,210,241 (GRCm39) M186V possibly damaging Het
Or52h9 A G 7: 104,202,518 (GRCm39) R131G probably damaging Het
Or5b109 A G 19: 13,212,157 (GRCm39) D181G probably damaging Het
Otof A T 5: 30,536,005 (GRCm39) probably null Het
Pck1 C T 2: 172,998,816 (GRCm39) T358I probably damaging Het
Pclo T C 5: 14,730,065 (GRCm39) probably benign Het
Pgm2 T A 5: 64,261,221 (GRCm39) F238L probably benign Het
Pgr G A 9: 8,947,044 (GRCm39) probably benign Het
Pkd1l3 T A 8: 110,367,475 (GRCm39) V1224E probably damaging Het
Pkd2l1 A G 19: 44,142,581 (GRCm39) V487A possibly damaging Het
Pkhd1 T C 1: 20,279,450 (GRCm39) D2956G probably damaging Het
Rexo2 A T 9: 48,390,703 (GRCm39) probably null Het
Rgs22 T A 15: 36,087,570 (GRCm39) L573F possibly damaging Het
Rufy3 T G 5: 88,732,051 (GRCm39) I18S possibly damaging Het
Slc30a9 T C 5: 67,503,505 (GRCm39) L393P probably damaging Het
Snw1 T C 12: 87,506,259 (GRCm39) I214V probably benign Het
Sorbs1 G A 19: 40,328,491 (GRCm39) Q595* probably null Het
Spata21 T A 4: 140,824,432 (GRCm39) probably null Het
Ss18l1 G T 2: 179,705,192 (GRCm39) probably null Het
Tmem163 A T 1: 127,447,107 (GRCm39) L176H probably damaging Het
Tpd52 T C 3: 9,009,668 (GRCm39) probably null Het
Tpsab1 T A 17: 25,562,436 (GRCm39) Y297F possibly damaging Het
Trim55 A G 3: 19,728,538 (GRCm39) T450A probably benign Het
Ttf1 C T 2: 28,954,668 (GRCm39) H11Y possibly damaging Het
Txndc11 A T 16: 10,906,398 (GRCm39) H377Q probably benign Het
Usp17la A G 7: 104,510,355 (GRCm39) Y320C probably damaging Het
Vmn2r109 T C 17: 20,770,348 (GRCm39) N547D probably damaging Het
Vmn2r54 A T 7: 12,350,150 (GRCm39) probably null Het
Wdr33 T C 18: 32,040,046 (GRCm39) *1331Q probably null Het
Wdr90 T A 17: 26,079,624 (GRCm39) probably benign Het
Xpo7 T C 14: 70,908,069 (GRCm39) M903V probably benign Het
Zfhx3 T A 8: 109,519,986 (GRCm39) S369R probably damaging Het
Zfp808 T C 13: 62,319,287 (GRCm39) F172S possibly damaging Het
Zfp821 A G 8: 110,450,625 (GRCm39) E55G probably benign Het
Zfp964 T C 8: 70,115,972 (GRCm39) Y191H possibly damaging Het
Zfyve1 T C 12: 83,621,646 (GRCm39) T250A 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
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
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'- TTCAGACGGCCACACAAAGG -3'
(R):5'- TGAAAGATGACTGGGGTGCC -3'

Sequencing Primer
(F):5'- CACAAAGGACTGCTACGTTGGC -3'
(R):5'- GCGCTCTTCTAGATTTAAGATAGAGG -3'
Posted On 2016-04-15