Incidental Mutation 'R4433:Abcc5'
ID 328716
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 041147-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4433 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 20150053-20245144 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 20186937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111209 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079158] [ENSMUST00000115547]
AlphaFold Q9R1X5
Predicted Effect probably null
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 null
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: ENSMUST00000127582
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134413
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148003
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm2 A G 7: 119,153,732 (GRCm39) H14R unknown Het
Adamtsl4 T C 3: 95,589,069 (GRCm39) probably null Het
Ak5 A G 3: 152,361,517 (GRCm39) I135T probably damaging Het
Alk G T 17: 72,206,236 (GRCm39) S1038* probably null Het
Ank2 A T 3: 126,741,455 (GRCm39) probably benign Het
Ap2m1 A T 16: 20,362,134 (GRCm39) H414L possibly damaging Het
Atp13a5 A T 16: 29,100,842 (GRCm39) M649K probably damaging Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Calhm6 T A 10: 34,003,827 (GRCm39) T27S probably damaging Het
Cdc25b A G 2: 131,033,618 (GRCm39) S186G probably benign Het
Ceacam16 A G 7: 19,587,514 (GRCm39) V418A possibly damaging Het
Cntnap3 A C 13: 64,926,667 (GRCm39) S568A possibly damaging Het
Col24a1 G T 3: 145,020,144 (GRCm39) V172F possibly damaging Het
Dynlt4 C T 4: 116,985,320 (GRCm39) R48C probably damaging Het
Eef2 CCC CCCC 10: 81,014,602 (GRCm39) probably null Het
Esp36 T A 17: 38,729,847 (GRCm39) T15S unknown Het
Fat2 A T 11: 55,200,466 (GRCm39) H869Q possibly damaging Het
Fat3 A G 9: 15,942,448 (GRCm39) V1308A probably damaging Het
Gimap3 T C 6: 48,742,880 (GRCm39) T17A possibly damaging Het
Hnrnpr A G 4: 136,044,459 (GRCm39) K13R probably benign Het
Hycc1 A C 5: 24,184,579 (GRCm39) C218G possibly damaging Het
Kdr A G 5: 76,104,585 (GRCm39) M1133T possibly damaging Het
Mgarp A G 3: 51,303,681 (GRCm39) probably benign Het
Neto2 G A 8: 86,367,712 (GRCm39) T337I probably damaging Het
Nfib C T 4: 82,416,672 (GRCm39) R137Q probably damaging Het
Nherf4 T C 9: 44,159,285 (GRCm39) *499W probably null Het
Nr3c2 A G 8: 77,944,096 (GRCm39) E890G probably damaging Het
Nsun4 A G 4: 115,897,327 (GRCm39) V228A possibly damaging Het
Nt5c1a T A 4: 123,109,689 (GRCm39) S263T probably benign Het
Ntm A T 9: 28,923,516 (GRCm39) Y45* probably null Het
Nts A G 10: 102,320,888 (GRCm39) V67A probably benign Het
Or1e19 A T 11: 73,316,537 (GRCm39) S91T possibly damaging Het
Or1e25 A G 11: 73,493,712 (GRCm39) Y102C probably damaging Het
Or4g7 T A 2: 111,309,757 (GRCm39) C209* probably null Het
Or51ag1 T A 7: 103,155,346 (GRCm39) K269M probably benign Het
Ostm1 C A 10: 42,555,119 (GRCm39) A47E probably benign Het
Otol1 G A 3: 69,925,881 (GRCm39) V19M probably benign Het
Pcdhb15 A G 18: 37,608,565 (GRCm39) N599S probably damaging Het
Pcdhgb1 T C 18: 37,814,304 (GRCm39) I265T probably damaging Het
Pex14 T C 4: 149,045,967 (GRCm39) E321G possibly damaging Het
Phactr3 C A 2: 177,924,925 (GRCm39) R251S probably damaging Het
Pkdcc C T 17: 83,528,570 (GRCm39) T313M probably benign Het
Plce1 A T 19: 38,755,745 (GRCm39) E1911V probably damaging Het
Ptprv G T 1: 135,042,308 (GRCm39) noncoding transcript Het
Rab36 G A 10: 74,880,328 (GRCm39) V63I probably damaging Het
Rhob A G 12: 8,549,533 (GRCm39) Y34H possibly damaging Het
Slc27a3 G A 3: 90,294,647 (GRCm39) T408M probably damaging Het
Slc9c1 A T 16: 45,419,829 (GRCm39) I1000F possibly damaging Het
Tcf7 G T 11: 52,152,442 (GRCm39) P36T probably benign Het
Tcf7l1 C G 6: 72,765,752 (GRCm39) E62Q probably damaging Het
Tll2 A G 19: 41,109,787 (GRCm39) S326P probably benign Het
Tubgcp4 A G 2: 121,014,954 (GRCm39) N288S probably benign Het
Zfhx3 G A 8: 109,682,269 (GRCm39) R3236H unknown Het
Zfp764l1 T G 7: 126,992,174 (GRCm39) Q87P possibly damaging Het
Zgrf1 A G 3: 127,355,727 (GRCm39) T318A 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
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'- ACTCCAGAGTGTAAGACAGGAC -3'
(R):5'- TCGTCAAGGTATCACCGTGG -3'

Sequencing Primer
(F):5'- GGACCAGTGAGAGATACCTTCATC -3'
(R):5'- TTCCCCAGGTCACAGGAGAG -3'
Posted On 2015-07-21