Incidental Mutation 'R7167:Abcc5'
ID 558017
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 045228-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7167 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 20150053-20245144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 20224251 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 111 (T111A)
Ref Sequence ENSEMBL: ENSMUSP00000078158 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077867] [ENSMUST00000079158] [ENSMUST00000096199] [ENSMUST00000115547]
AlphaFold Q9R1X5
Predicted Effect possibly damaging
Transcript: ENSMUST00000077867
AA Change: T111A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000077031
Gene: ENSMUSG00000022822
AA Change: T111A

DomainStartEndE-ValueType
Pfam:ABC_membrane 179 447 1.6e-18 PFAM
Blast:AAA 463 512 2e-22 BLAST
Predicted Effect possibly damaging
Transcript: ENSMUST00000079158
AA Change: T111A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: T111A

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 damaging
Transcript: ENSMUST00000096199
AA Change: T111A

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
Predicted Effect possibly damaging
Transcript: ENSMUST00000115547
AA Change: T111A

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: T111A

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 94% (65/69)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m T C 6: 121,624,930 (GRCm39) V436A probably benign Het
Acsbg2 T A 17: 57,164,000 (GRCm39) D203V probably benign Het
Alpk2 G T 18: 65,440,049 (GRCm39) T448K probably benign Het
Arhgef2 A G 3: 88,551,179 (GRCm39) N780S possibly damaging Het
Atxn2l T C 7: 126,098,394 (GRCm39) N252S possibly damaging Het
Bmpr1b A T 3: 141,568,841 (GRCm39) L163Q probably benign Het
Clca3a2 T C 3: 144,803,545 (GRCm39) R100G probably benign Het
Col2a1 A G 15: 97,898,337 (GRCm39) I79T unknown Het
Csmd1 A G 8: 15,976,524 (GRCm39) V2898A probably benign Het
Cux1 G A 5: 136,338,895 (GRCm39) probably null Het
Cyp2u1 A G 3: 131,096,773 (GRCm39) S2P probably benign Het
Daam1 C A 12: 72,035,678 (GRCm39) H958N probably damaging Het
Dnah7a C T 1: 53,542,935 (GRCm39) V2412I probably benign Het
Ergic2 T C 6: 148,108,133 (GRCm39) R2G probably damaging Het
Fat2 T C 11: 55,175,827 (GRCm39) T1629A possibly damaging Het
Ftl1 T A 7: 45,109,202 (GRCm39) probably benign Het
Fut8 T C 12: 77,495,406 (GRCm39) V332A possibly damaging Het
Gm28363 T C 1: 117,655,119 (GRCm39) S113P probably damaging Het
Hfe A T 13: 23,892,052 (GRCm39) V104E probably damaging Het
Ifih1 A T 2: 62,429,240 (GRCm39) N899K probably benign Het
Krt75 A G 15: 101,476,750 (GRCm39) S380P possibly damaging Het
Meiob T G 17: 25,055,419 (GRCm39) F409V probably damaging Het
Mkrn2os A T 6: 115,562,474 (GRCm39) I163N probably damaging Het
Nanos1 G T 19: 60,745,046 (GRCm39) G115W probably damaging Het
Naprt C T 15: 75,764,461 (GRCm39) A276T probably damaging Het
Oas1e G T 5: 120,933,487 (GRCm39) T26N probably benign Het
Oog2 T G 4: 143,921,745 (GRCm39) D218E probably benign Het
Optn T C 2: 5,047,294 (GRCm39) N207S probably benign Het
Or13a20 T A 7: 140,232,466 (GRCm39) C191* probably null Het
Or1l8 T C 2: 36,817,533 (GRCm39) I198V probably benign Het
Or4g16 T C 2: 111,136,793 (GRCm39) M81T probably benign Het
Or4p18 A G 2: 88,232,552 (GRCm39) V242A possibly damaging Het
Or6c63-ps1 T G 10: 128,899,141 (GRCm39) Q245P probably damaging Het
Or6c66b T C 10: 129,376,607 (GRCm39) L67P possibly damaging Het
Or8g4 T C 9: 39,661,865 (GRCm39) F61S probably damaging Het
Oxnad1 G T 14: 31,822,976 (GRCm39) E236* probably null Het
Pcdha3 G A 18: 37,080,046 (GRCm39) A263T probably damaging Het
Pex13 A T 11: 23,605,472 (GRCm39) W253R possibly damaging Het
Pip5k1b T A 19: 24,374,433 (GRCm39) E49D probably benign Het
Plau C A 14: 20,889,518 (GRCm39) F194L possibly damaging Het
Ppm1n A G 7: 19,013,666 (GRCm39) L95S probably damaging Het
Pramel40 G A 5: 94,464,984 (GRCm39) A457T possibly damaging Het
Radil G T 5: 142,471,260 (GRCm39) probably null Het
Ralgapa2 C T 2: 146,190,374 (GRCm39) M1266I probably benign Het
Reln A T 5: 22,147,618 (GRCm39) L2444Q probably damaging Het
Rims2 T C 15: 39,300,473 (GRCm39) V260A probably benign Het
Rnase2b T A 14: 51,400,222 (GRCm39) V101E probably damaging Het
Rtp3 T A 9: 110,815,772 (GRCm39) T198S probably benign Het
Shisal2b A G 13: 105,000,166 (GRCm39) V19A probably damaging Het
Smad3 T A 9: 63,573,435 (GRCm39) D201V probably benign Het
Son AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,222 (GRCm39) probably benign Het
Spata7 T G 12: 98,630,555 (GRCm39) F371C probably damaging Het
Stag1 T G 9: 100,827,942 (GRCm39) N990K probably benign Het
Tbx18 C T 9: 87,589,883 (GRCm39) A352T probably damaging Het
Thada C T 17: 84,538,391 (GRCm39) R1539Q probably benign Het
Thrap3 A C 4: 126,078,920 (GRCm39) probably benign Het
Tnks G A 8: 35,316,458 (GRCm39) T887M probably damaging Het
Trap1 A C 16: 3,870,792 (GRCm39) V393G probably damaging Het
Trpm4 A G 7: 44,977,143 (GRCm39) probably null Het
Trrap G T 5: 144,776,424 (GRCm39) G3007C probably benign Het
U2surp A T 9: 95,363,726 (GRCm39) N611K probably damaging Het
Usp12 A G 5: 146,705,745 (GRCm39) probably null Het
Vmn1r200 A G 13: 22,579,487 (GRCm39) T97A possibly damaging Het
Vmn2r110 C T 17: 20,794,441 (GRCm39) V743I probably benign Het
Vps50 C T 6: 3,600,256 (GRCm39) T905M probably damaging Het
Wdr48 T A 9: 119,736,855 (GRCm39) probably null Het
Zfp446 C T 7: 12,712,049 (GRCm39) probably benign Het
Zfr T C 15: 12,181,015 (GRCm39) S1012P 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
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'- TAGATTCCACACTGCTGGCC -3'
(R):5'- TTGGCTGATGTTTCATATGCAAAGC -3'

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