Incidental Mutation 'R6213:Abcc5'
ID 503590
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 044346-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6213 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 20150053-20245144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 20218762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 207 (Y207H)
Ref Sequence ENSEMBL: ENSMUSP00000077031 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000077867] [ENSMUST00000079158] [ENSMUST00000096199] [ENSMUST00000115547] [ENSMUST00000232044]
AlphaFold Q9R1X5
Predicted Effect probably damaging
Transcript: ENSMUST00000077867
AA Change: Y207H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000077031
Gene: ENSMUSG00000022822
AA Change: Y207H

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: Y207H

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: Y207H

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: ENSMUST00000096199
Predicted Effect possibly damaging
Transcript: ENSMUST00000115547
AA Change: Y207H

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: Y207H

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: ENSMUST00000128978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150340
Predicted Effect probably benign
Transcript: ENSMUST00000232044
Meta Mutation Damage Score 0.1641 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy7 G A 8: 89,040,765 (GRCm39) V335M probably damaging Het
Apol11b A C 15: 77,522,200 (GRCm39) D32E possibly damaging Het
Ccdc13 A G 9: 121,627,975 (GRCm39) probably benign Het
Cdkn1b T A 6: 134,898,206 (GRCm39) D108E probably benign Het
Cep290 A G 10: 100,359,222 (GRCm39) D984G probably benign Het
Csde1 T C 3: 102,947,830 (GRCm39) V128A probably damaging Het
Csmd3 A G 15: 47,492,656 (GRCm39) S3162P probably damaging Het
D5Ertd579e G A 5: 36,759,978 (GRCm39) T1394I probably damaging Het
Ddx6 T A 9: 44,539,990 (GRCm39) L306Q probably damaging Het
Dmxl1 T A 18: 49,996,082 (GRCm39) S403T possibly damaging Het
F11 G T 8: 45,694,537 (GRCm39) T608K probably damaging Het
Flrt3 C T 2: 140,503,085 (GRCm39) R181H probably damaging Het
Hs3st1 A T 5: 39,771,864 (GRCm39) C260S probably damaging Het
Ighv7-1 A T 12: 113,860,141 (GRCm39) S84T probably damaging Het
Inpp4b A G 8: 82,724,019 (GRCm39) D332G probably damaging Het
Irf2bpl T C 12: 86,930,367 (GRCm39) Q102R probably benign Het
Itpr3 T A 17: 27,330,174 (GRCm39) D1597E probably benign Het
Kcnd1 G C X: 7,690,148 (GRCm39) A23P probably damaging Homo
Lypd8 A G 11: 58,281,160 (GRCm39) T241A probably benign Het
Map1lc3a T C 2: 155,118,935 (GRCm39) probably null Het
Mast1 G A 8: 85,642,198 (GRCm39) T1052I probably damaging Het
Muc2 T C 7: 141,305,151 (GRCm39) C152R probably damaging Het
Muc5b A T 7: 141,415,903 (GRCm39) M2950L probably benign Het
Muc5b A G 7: 141,421,356 (GRCm39) D4282G possibly damaging Het
Myo16 G T 8: 10,420,963 (GRCm39) probably null Het
Myo9a T A 9: 59,734,541 (GRCm39) F708I probably damaging Het
Nadsyn1 A T 7: 143,353,549 (GRCm39) F558Y probably benign Het
Nat9 A T 11: 115,075,932 (GRCm39) W30R probably damaging Het
Nipbl A G 15: 8,364,390 (GRCm39) L1338S probably damaging Het
Nipsnap3b A G 4: 53,017,066 (GRCm39) T97A probably benign Het
Npepps A T 11: 97,132,823 (GRCm39) Y301* probably null Het
Nrcam C T 12: 44,609,215 (GRCm39) P447S possibly damaging Het
Or14c41 A G 7: 86,234,485 (GRCm39) M1V probably null Het
Or1o4 T C 17: 37,591,264 (GRCm39) S16G probably benign Het
Or2a14 A G 6: 43,130,821 (GRCm39) N194S possibly damaging Het
Or52b4 T C 7: 102,184,139 (GRCm39) Y62H probably damaging Het
Pacsin3 G T 2: 91,090,779 (GRCm39) V29F probably damaging Het
Pdzrn3 A C 6: 101,354,805 (GRCm39) D15E probably damaging Het
Phf20l1 T C 15: 66,504,752 (GRCm39) probably null Het
Pign A C 1: 105,516,991 (GRCm39) V545G possibly damaging Het
Pkhd1 T C 1: 20,593,994 (GRCm39) N1373S possibly damaging Het
Ptchd4 T A 17: 42,688,251 (GRCm39) H264Q probably benign Het
Ptpn3 G T 4: 57,265,012 (GRCm39) Q73K probably damaging Het
Ptrh1 G A 2: 32,666,757 (GRCm39) V109I probably benign Het
Reg1 A T 6: 78,404,386 (GRCm39) I87F possibly damaging Het
Rrp12 C A 19: 41,857,217 (GRCm39) V1186L probably benign Het
Sall1 AGTGGTGGTGGTGGTGGTGGTGG AGTGGTGGTGGTGGTGGTGG 8: 89,759,686 (GRCm39) probably benign Het
Slc23a3 A C 1: 75,108,392 (GRCm39) F279V probably benign Het
Smtnl2 G A 11: 72,292,225 (GRCm39) A274V probably damaging Het
Suds3 A G 5: 117,244,727 (GRCm39) L115P probably damaging Het
Tekt2 G A 4: 126,216,989 (GRCm39) A260V probably damaging Het
Tgfb3 T A 12: 86,104,621 (GRCm39) Y391F probably damaging Het
Topbp1 T C 9: 103,209,950 (GRCm39) S866P probably benign Het
Tspan14 A G 14: 40,635,372 (GRCm39) Y175H probably benign Het
Vars2 T C 17: 35,971,332 (GRCm39) T568A probably benign Het
Vmn1r216 T G 13: 23,283,339 (GRCm39) D7E probably benign Het
Vmn2r115 ATCTTCT ATCT 17: 23,578,962 (GRCm39) probably benign Het
Zfp281 T C 1: 136,553,250 (GRCm39) V76A probably benign Het
Zfp36l2 T C 17: 84,493,980 (GRCm39) N219S probably damaging Het
Zfp626 T C 7: 27,507,717 (GRCm39) M42T probably benign Het
Zscan21 C T 5: 138,123,359 (GRCm39) P13S 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
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'- ACAGGCTCTGAACTCACCTC -3'
(R):5'- TTGCCGGGAATATTTGGTCC -3'

Sequencing Primer
(F):5'- TGAACTCACCTCCCCTAGGGAC -3'
(R):5'- GCCGGGAATATTTGGTCCAACAAC -3'
Posted On 2018-02-27