Incidental Mutation 'R1552:Abcc5'
ID 170038
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 039591-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1552 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 20150053-20245144 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 20217617 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 365 (I365F)
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: I365F

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000077031
Gene: ENSMUSG00000022822
AA Change: I365F

DomainStartEndE-ValueType
Pfam:ABC_membrane 179 447 1.6e-18 PFAM
Blast:AAA 463 512 2e-22 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000079158
AA Change: I365F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: I365F

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 probably damaging
Transcript: ENSMUST00000115547
AA Change: I365F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: I365F

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: ENSMUST00000131453
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150340
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134413
Predicted Effect probably damaging
Transcript: ENSMUST00000232044
AA Change: I28F

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
Meta Mutation Damage Score 0.8950 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 91.7%
Validation Efficiency 97% (71/73)
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
Abhd15 T C 11: 77,406,233 (GRCm39) L70P probably damaging Het
Adam18 A C 8: 25,136,377 (GRCm39) H381Q probably benign Het
Ankfy1 T C 11: 72,645,321 (GRCm39) probably null Het
Arcn1 C T 9: 44,670,291 (GRCm39) A112T probably damaging Het
Bltp3a T C 17: 28,109,045 (GRCm39) F1088S possibly damaging Het
Calhm1 C T 19: 47,129,640 (GRCm39) R294H probably benign Het
Ccdc121rt1 A G 1: 181,338,556 (GRCm39) L132P probably damaging Het
Cdk5rap1 T C 2: 154,212,615 (GRCm39) E81G probably benign Het
Cep170 T C 1: 176,610,060 (GRCm39) probably benign Het
Cep350 C T 1: 155,786,484 (GRCm39) R1454Q possibly damaging Het
Chrna3 C A 9: 54,923,192 (GRCm39) E205D probably benign Het
Chst5 T C 8: 112,616,912 (GRCm39) D236G probably damaging Het
Coro1a T C 7: 126,299,124 (GRCm39) N367D probably benign Het
Cyp3a16 T C 5: 145,373,346 (GRCm39) I474V probably benign Het
Cyth3 G A 5: 143,683,505 (GRCm39) V87I probably benign Het
Dclk3 C A 9: 111,317,647 (GRCm39) T761K probably damaging Het
Dvl2 T A 11: 69,897,198 (GRCm39) M300K possibly damaging Het
Eefsec C T 6: 88,353,182 (GRCm39) probably benign Het
Exog T C 9: 119,274,176 (GRCm39) S54P unknown Het
Fasn A G 11: 120,709,384 (GRCm39) S519P probably damaging Het
Gas8 G A 8: 124,247,385 (GRCm39) A16T probably benign Het
Got2 A G 8: 96,596,122 (GRCm39) S333P probably benign Het
Hadhb T A 5: 30,381,931 (GRCm39) L287Q probably null Het
Ift57 A G 16: 49,579,716 (GRCm39) T211A probably benign Het
Il1rap A G 16: 26,541,184 (GRCm39) E475G possibly damaging Het
Ilkap A T 1: 91,312,316 (GRCm39) D11E probably damaging Het
Impact T C 18: 13,117,337 (GRCm39) S137P probably benign Het
Jarid2 T C 13: 45,064,675 (GRCm39) V920A probably damaging Het
Kcnk18 A T 19: 59,223,890 (GRCm39) H345L probably damaging Het
Kdm4d A T 9: 14,375,325 (GRCm39) Y178N probably damaging Het
Klk1b1 A G 7: 43,618,767 (GRCm39) Y48C probably damaging Het
Klra5 G T 6: 129,886,848 (GRCm39) T60K probably damaging Het
Kng2 A T 16: 22,806,270 (GRCm39) L643H probably damaging Het
Lamb3 A G 1: 193,013,067 (GRCm39) probably null Het
Lingo2 A G 4: 35,708,315 (GRCm39) V555A probably damaging Het
Mbd5 T C 2: 49,162,946 (GRCm39) S251P probably damaging Het
Mc4r T C 18: 66,992,766 (GRCm39) S116G probably benign Het
Mipol1 T C 12: 57,352,874 (GRCm39) V71A possibly damaging Het
Myo15b A C 11: 115,757,461 (GRCm39) S1104R probably benign Het
Nek1 T A 8: 61,459,771 (GRCm39) D26E probably damaging Het
Neu1 C T 17: 35,151,089 (GRCm39) probably benign Het
Npffr2 T C 5: 89,730,975 (GRCm39) S302P possibly damaging Het
Or8b48 T C 9: 38,492,675 (GRCm39) M34T probably benign Het
Palmd T A 3: 116,741,689 (GRCm39) probably benign Het
Pcdh8 A T 14: 80,008,047 (GRCm39) V172E probably benign Het
Pnpla6 C A 8: 3,572,403 (GRCm39) Q291K probably damaging Het
Pou2af2 T A 9: 51,202,870 (GRCm39) S95C probably damaging Het
Prkch T C 12: 73,749,320 (GRCm39) F357L probably benign Het
Ptprj A T 2: 90,301,497 (GRCm39) Y212N probably damaging Het
Reln G T 5: 22,165,376 (GRCm39) H2061N probably benign Het
Rint1 T A 5: 24,005,656 (GRCm39) S113T probably benign Het
Rnf38 G C 4: 44,142,468 (GRCm39) probably null Het
Slc30a4 T A 2: 122,527,936 (GRCm39) I374L probably benign Het
Slfn10-ps T C 11: 82,920,676 (GRCm39) noncoding transcript Het
Smcp A T 3: 92,491,710 (GRCm39) C46S unknown Het
Smu1 A C 4: 40,748,570 (GRCm39) V240G probably damaging Het
Srsf5 A G 12: 80,996,519 (GRCm39) probably benign Het
Stn1 T C 19: 47,524,812 (GRCm39) probably null Het
Stx18 A G 5: 38,262,335 (GRCm39) E63G probably damaging Het
Tas2r130 A G 6: 131,607,130 (GRCm39) Y222H probably benign Het
Tescl G T 7: 24,032,758 (GRCm39) P189Q probably benign Het
Tlr1 A G 5: 65,084,203 (GRCm39) S125P probably damaging Het
Ugt2a2 G T 5: 87,609,880 (GRCm39) D566E possibly damaging Het
Unc13b A T 4: 43,237,144 (GRCm39) T3405S probably damaging Het
Upf1 G A 8: 70,785,709 (GRCm39) Q1046* probably null Het
Wwox T A 8: 115,172,090 (GRCm39) Y61* probably null Het
Zfhx4 C T 3: 5,468,170 (GRCm39) T2776M probably damaging Het
Zranb3 G A 1: 127,888,488 (GRCm39) 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
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
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'- TGGGGCAAAATCAGTTCCCGAG -3'
(R):5'- TTGGCTGAGACCATTGTGAGGC -3'

Sequencing Primer
(F):5'- CGGAAGTCTAGTTTCTAATGTGC -3'
(R):5'- ACCATTGTGAGGCAGGTC -3'
Posted On 2014-04-13