Incidental Mutation 'R7318:Abcc5'
ID 565676
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 045414-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7318 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 20150053-20245144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 20211293 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 557 (P557S)
Ref Sequence ENSEMBL: ENSMUSP00000078158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077867] [ENSMUST00000079158] [ENSMUST00000115547] [ENSMUST00000232044]
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
AA Change: P557S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: P557S

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: P557S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: P557S

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: 99.6%
  • 20x: 98.6%
Validation Efficiency 100% (67/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik T C 7: 40,643,111 (GRCm39) L260S probably benign Het
9130230L23Rik A T 5: 66,145,771 (GRCm39) S113R unknown Het
Acad11 A G 9: 103,958,466 (GRCm39) T245A probably damaging Het
Acap2 A G 16: 30,946,155 (GRCm39) F263L probably damaging Het
Ankle2 A T 5: 110,385,632 (GRCm39) N327I probably benign Het
Appl1 T C 14: 26,685,617 (GRCm39) E67G probably benign Het
Arfgef3 A T 10: 18,506,211 (GRCm39) C864S possibly damaging Het
Arhgap20 A G 9: 51,751,802 (GRCm39) I418V probably benign Het
Arhgef2 A T 3: 88,539,610 (GRCm39) N102Y probably damaging Het
Car9 G T 4: 43,513,089 (GRCm39) E431D probably damaging Het
Cbfa2t2 T C 2: 154,342,374 (GRCm39) I30T probably benign Het
Cd40 A T 2: 164,904,255 (GRCm39) D34V possibly damaging Het
Chrnb2 T A 3: 89,670,674 (GRCm39) probably null Het
Chsy1 T G 7: 65,759,977 (GRCm39) probably null Het
Cpne6 A G 14: 55,751,751 (GRCm39) T245A possibly damaging Het
Cpsf1 T A 15: 76,481,475 (GRCm39) K1159* probably null Het
Crisp1 T A 17: 40,618,668 (GRCm39) E64D possibly damaging Het
D3Ertd751e A G 3: 41,756,986 (GRCm39) probably null Het
Dennd11 A G 6: 40,386,098 (GRCm39) V333A possibly damaging Het
Dnah7b T A 1: 46,234,532 (GRCm39) L1488Q probably damaging Het
Dnm2 G A 9: 21,416,863 (GRCm39) G799R possibly damaging Het
Elp2 G A 18: 24,739,956 (GRCm39) V61I probably damaging Het
Epb41l3 T C 17: 69,573,135 (GRCm39) L388P Het
Fry A T 5: 150,360,458 (GRCm39) S2035C probably damaging Het
Gas8 T C 8: 124,257,707 (GRCm39) F385L probably benign Het
Ghsr T C 3: 27,426,616 (GRCm39) V224A possibly damaging Het
Gstp2 T A 19: 4,091,065 (GRCm39) R85W probably benign Het
Ighv1-20 T A 12: 114,687,810 (GRCm39) I6F possibly damaging Het
Inpp4b T A 8: 82,798,374 (GRCm39) M854K probably damaging Het
Kif15 A G 9: 122,817,014 (GRCm39) E538G probably damaging Het
Large2 T C 2: 92,196,373 (GRCm39) T485A probably benign Het
Lmo3 T A 6: 138,398,363 (GRCm39) probably benign Het
Lyg1 G A 1: 37,988,936 (GRCm39) P95S probably benign Het
Lyst A G 13: 13,932,028 (GRCm39) H3552R probably benign Het
Mtif2 C T 11: 29,490,115 (GRCm39) S385L probably benign Het
Muc4 A T 16: 32,575,710 (GRCm39) I1737F unknown Het
Mug1 T C 6: 121,847,611 (GRCm39) probably null Het
Mx1 G T 16: 97,253,286 (GRCm39) Q350K probably benign Het
Mylk3 G T 8: 86,085,726 (GRCm39) D269E probably benign Het
Myo3a A T 2: 22,448,332 (GRCm39) K974* probably null Het
Nectin4 G T 1: 171,208,031 (GRCm39) R141L probably benign Het
Nlgn2 T C 11: 69,716,795 (GRCm39) H582R probably damaging Het
Or51ab3 T A 7: 103,201,298 (GRCm39) M102K probably damaging Het
Or51e1 T A 7: 102,359,226 (GRCm39) Y253* probably null Het
Pi16 C A 17: 29,538,208 (GRCm39) P7Q possibly damaging Het
Psmd11 C A 11: 80,347,128 (GRCm39) L171I probably benign Het
Rad54l A G 4: 115,967,906 (GRCm39) V152A possibly damaging Het
Ranbp2 T A 10: 58,318,909 (GRCm39) Y2473* probably null Het
Sertad1 T C 7: 27,188,910 (GRCm39) I77T possibly damaging Het
Sesn3 A T 9: 14,219,873 (GRCm39) E87D probably damaging Het
Slc30a5 A T 13: 100,950,477 (GRCm39) S260R probably benign Het
Slc6a12 G A 6: 121,328,972 (GRCm39) G111S probably damaging Het
Slc6a12 T C 6: 121,328,978 (GRCm39) Y113H probably benign Het
Spag17 T G 3: 99,847,299 (GRCm39) M76R probably benign Het
Spata31f3 TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG 4: 42,871,823 (GRCm39) probably benign Het
Stard13 G A 5: 150,986,038 (GRCm39) Q491* probably null Het
Synpo2 T C 3: 122,910,968 (GRCm39) S226G probably benign Het
Tada2b G A 5: 36,641,331 (GRCm39) T24I probably benign Het
Tafa1 T C 6: 96,092,737 (GRCm39) probably null Het
Tmem51 TCCCC TCCC 4: 141,764,996 (GRCm39) probably null Het
Tnnt1 T A 7: 4,513,547 (GRCm39) probably null Het
Usp17lb T C 7: 104,490,340 (GRCm39) I196V probably benign Het
Utp20 T A 10: 88,649,811 (GRCm39) K466N possibly damaging Het
Wdr46 T C 17: 34,160,859 (GRCm39) probably null Het
Zfp287 T A 11: 62,605,104 (GRCm39) Q601L probably damaging Het
Zfp410 T C 12: 84,372,464 (GRCm39) S97P 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
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'- ATACTCTGCTTAAAGGGCGGG -3'
(R):5'- CAGTCCTCACATCAAGATAGAGATG -3'

Sequencing Primer
(F):5'- GTCTTGCCAGGGTCAAGCTG -3'
(R):5'- ACCTTGGCATGGGACTCCTC -3'
Posted On 2019-06-26