Incidental Mutation 'R2068:Abcb5'
ID 226868
Institutional Source Beutler Lab
Gene Symbol Abcb5
Ensembl Gene ENSMUSG00000072791
Gene Name ATP-binding cassette, sub-family B (MDR/TAP), member 5
Synonyms 9230106F14Rik
MMRRC Submission 040073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.155) question?
Stock # R2068 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 118867824-118966421 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 118940568 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 162 (C162*)
Ref Sequence ENSEMBL: ENSMUSP00000046177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035515]
AlphaFold B5X0E4
Predicted Effect probably null
Transcript: ENSMUST00000035515
AA Change: C162*
SMART Domains Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: C162*

DomainStartEndE-ValueType
Pfam:ABC_membrane 49 338 1.9e-74 PFAM
AAA 414 606 2.1e-19 SMART
Pfam:ABC_membrane 693 967 7.3e-59 PFAM
Blast:AAA 969 1040 2e-11 BLAST
AAA 1043 1231 8.26e-18 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]).[supplied by OMIM, Mar 2008]
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933436I01Rik T A X: 67,920,702 (GRCm38) I184L probably benign Het
Akr1c19 A T 13: 4,238,392 (GRCm38) probably null Het
Akt3 A G 1: 177,102,985 (GRCm38) S136P possibly damaging Het
Alox12e G A 11: 70,316,002 (GRCm38) R620W probably damaging Het
Ascc2 A T 11: 4,681,496 (GRCm38) M646L probably benign Het
Bsn T G 9: 108,110,684 (GRCm38) probably benign Het
Bsn T A 9: 108,126,550 (GRCm38) M219L possibly damaging Het
Btnl9 T C 11: 49,169,563 (GRCm38) T453A probably damaging Het
C6 G T 15: 4,791,070 (GRCm38) C521F probably damaging Het
Ccnt1 A T 15: 98,551,942 (GRCm38) H156Q probably benign Het
Cdh7 A T 1: 110,137,936 (GRCm38) R647* probably null Het
Clptm1l C T 13: 73,607,723 (GRCm38) Q153* probably null Het
Cmya5 T A 13: 93,090,524 (GRCm38) K2685N possibly damaging Het
Cnksr2 A C X: 157,945,306 (GRCm38) S224R possibly damaging Het
Cntn1 T C 15: 92,318,062 (GRCm38) V992A possibly damaging Het
Dapk1 G A 13: 60,751,208 (GRCm38) D831N probably damaging Het
Dnaaf3 T C 7: 4,523,799 (GRCm38) I426M possibly damaging Het
Dnah6 A G 6: 73,021,182 (GRCm38) Y4034H probably benign Het
Dtx2 C T 5: 136,030,577 (GRCm38) S493F probably damaging Het
Ehd1 T C 19: 6,298,078 (GRCm38) L362P probably benign Het
Endov T C 11: 119,499,582 (GRCm38) F12S probably damaging Het
Eps8 A T 6: 137,522,174 (GRCm38) W239R probably benign Het
Fance T C 17: 28,320,825 (GRCm38) F83S possibly damaging Het
Fn1 A G 1: 71,600,439 (GRCm38) V1731A probably damaging Het
Gak G T 5: 108,570,225 (GRCm38) T1244K probably benign Het
Gas8 T A 8: 123,526,537 (GRCm38) I208N probably damaging Het
Gm9830 A T 9: 44,464,282 (GRCm38) noncoding transcript Het
Gm9837 T A 11: 53,470,265 (GRCm38) probably benign Het
Gtf2f2 A G 14: 75,917,696 (GRCm38) S142P possibly damaging Het
Hdac3 C A 18: 37,943,516 (GRCm38) G257V probably damaging Het
Heg1 A G 16: 33,727,590 (GRCm38) T916A probably benign Het
Herc2 G T 7: 56,132,497 (GRCm38) G1311C probably damaging Het
Htt C T 5: 34,825,982 (GRCm38) T975I probably benign Het
Il2rg A G X: 101,267,810 (GRCm38) L57P possibly damaging Het
Itm2b T C 14: 73,363,135 (GRCm38) K242E probably damaging Het
Itpr3 G A 17: 27,098,076 (GRCm38) M768I probably benign Het
Klrg2 G A 6: 38,636,993 (GRCm38) T25I probably benign Het
Lcn5 G A 2: 25,658,041 (GRCm38) V21M probably damaging Het
Liat1 T C 11: 76,000,251 (GRCm38) S64P possibly damaging Het
Lonp2 A G 8: 86,665,775 (GRCm38) T490A probably damaging Het
Lrrn3 A T 12: 41,452,996 (GRCm38) S441T probably damaging Het
Mpdz G A 4: 81,335,830 (GRCm38) R1W probably null Het
Mpp4 G A 1: 59,143,782 (GRCm38) P322L possibly damaging Het
Mpzl2 G A 9: 45,043,871 (GRCm38) probably null Het
Naf1 A G 8: 66,887,780 (GRCm38) D414G probably damaging Het
Notch3 A G 17: 32,135,508 (GRCm38) C1748R probably benign Het
Nup133 C A 8: 123,914,575 (GRCm38) D869Y probably damaging Het
Oasl2 A C 5: 114,911,237 (GRCm38) D466A probably benign Het
Olfr709-ps1 T G 7: 106,926,955 (GRCm38) Y168S probably damaging Het
Opa3 T C 7: 19,244,814 (GRCm38) I68T possibly damaging Het
Or2ab1 A G 11: 58,597,570 (GRCm38) N58S probably damaging Het
Or2ag1 T A 7: 106,714,166 (GRCm38) R172W probably benign Het
Or5p63 T C 7: 108,212,340 (GRCm38) Y63C probably damaging Het
Or8g37 T C 9: 39,820,550 (GRCm38) F304L probably benign Het
Pcdh8 A T 14: 79,768,211 (GRCm38) S912R probably damaging Het
Pdzrn3 T C 6: 101,150,699 (GRCm38) E1002G probably damaging Het
Pik3c2a A T 7: 116,372,891 (GRCm38) L768* probably null Het
Plxna4 A G 6: 32,517,616 (GRCm38) S22P possibly damaging Het
Plxnb3 T A X: 73,771,751 (GRCm38) Y1845* probably null Het
Pramel11 T C 4: 143,896,912 (GRCm38) M231V probably damaging Het
Prl7a2 T A 13: 27,660,887 (GRCm38) Y172F probably damaging Het
Pum1 A G 4: 130,774,434 (GRCm38) T845A probably benign Het
Rad21l T C 2: 151,668,007 (GRCm38) H58R probably damaging Het
Rgma A C 7: 73,409,631 (GRCm38) D161A probably damaging Het
Scai T C 2: 39,123,013 (GRCm38) Y135C probably damaging Het
Scn2a T A 2: 65,752,073 (GRCm38) H1588Q probably benign Het
Sdha A T 13: 74,323,968 (GRCm38) probably null Het
Slc12a3 A G 8: 94,345,828 (GRCm38) D658G probably damaging Het
Slc5a3 A G 16: 92,077,240 (GRCm38) S62G probably damaging Het
Spata13 GTTAGGCT GT 14: 60,760,871 (GRCm38) probably benign Het
Sulf1 A G 1: 12,840,403 (GRCm38) I649V probably damaging Het
Thbs1 C T 2: 118,123,537 (GRCm38) Q1090* probably null Het
Tjp2 C A 19: 24,122,323 (GRCm38) R400L probably benign Het
Tle4 A T 19: 14,449,749 (GRCm38) Y769* probably null Het
Trmt5 A T 12: 73,284,670 (GRCm38) probably null Het
Troap T C 15: 99,082,463 (GRCm38) L508P probably benign Het
Ubac2 T A 14: 121,908,279 (GRCm38) Y116* probably null Het
Ugt2b36 T C 5: 87,092,241 (GRCm38) E95G probably benign Het
Ush1c T C 7: 46,229,481 (GRCm38) Y74C probably damaging Het
Usp36 T C 11: 118,275,018 (GRCm38) T160A possibly damaging Het
Usp54 G T 14: 20,577,205 (GRCm38) P462T probably damaging Het
Vmn1r55 A G 7: 5,147,049 (GRCm38) V125A possibly damaging Het
Vps11 A G 9: 44,358,316 (GRCm38) S213P probably damaging Het
Zfp668 C T 7: 127,866,665 (GRCm38) G449D probably benign Het
Other mutations in Abcb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Abcb5 APN 12 118,890,610 (GRCm38) missense probably benign 0.03
IGL00092:Abcb5 APN 12 118,928,695 (GRCm38) missense probably benign 0.09
IGL00503:Abcb5 APN 12 118,907,601 (GRCm38) missense probably benign 0.02
IGL00776:Abcb5 APN 12 118,919,854 (GRCm38) missense probably damaging 1.00
IGL01116:Abcb5 APN 12 118,886,176 (GRCm38) missense probably benign
IGL01302:Abcb5 APN 12 118,918,200 (GRCm38) missense probably damaging 1.00
IGL01403:Abcb5 APN 12 118,872,867 (GRCm38) missense probably damaging 1.00
IGL01453:Abcb5 APN 12 118,867,970 (GRCm38) missense probably damaging 1.00
IGL01541:Abcb5 APN 12 118,911,434 (GRCm38) missense probably benign 0.03
IGL01784:Abcb5 APN 12 118,890,664 (GRCm38) missense probably benign 0.14
IGL01967:Abcb5 APN 12 118,867,972 (GRCm38) missense probably damaging 1.00
IGL01987:Abcb5 APN 12 118,927,358 (GRCm38) missense probably damaging 1.00
IGL02104:Abcb5 APN 12 118,940,680 (GRCm38) missense probably damaging 1.00
IGL02161:Abcb5 APN 12 118,874,755 (GRCm38) missense probably benign
IGL02292:Abcb5 APN 12 118,918,197 (GRCm38) missense probably damaging 1.00
IGL02381:Abcb5 APN 12 118,940,678 (GRCm38) missense probably damaging 1.00
IGL02544:Abcb5 APN 12 118,906,268 (GRCm38) splice site probably benign
IGL02685:Abcb5 APN 12 118,905,947 (GRCm38) missense probably damaging 0.99
IGL02824:Abcb5 APN 12 118,890,685 (GRCm38) missense probably benign 0.05
IGL02876:Abcb5 APN 12 118,919,841 (GRCm38) missense probably damaging 1.00
IGL02929:Abcb5 APN 12 118,944,939 (GRCm38) missense probably damaging 0.99
IGL03030:Abcb5 APN 12 118,940,369 (GRCm38) missense possibly damaging 0.93
IGL03062:Abcb5 APN 12 118,936,087 (GRCm38) missense probably benign 0.43
IGL03200:Abcb5 APN 12 118,965,254 (GRCm38) splice site probably benign
IGL03407:Abcb5 APN 12 118,940,376 (GRCm38) missense probably benign 0.01
alphabet UTSW 12 118,890,618 (GRCm38) missense possibly damaging 0.67
google UTSW 12 118,867,930 (GRCm38) missense possibly damaging 0.93
F5770:Abcb5 UTSW 12 118,886,179 (GRCm38) missense probably benign 0.07
PIT4366001:Abcb5 UTSW 12 118,936,098 (GRCm38) missense probably damaging 1.00
PIT4434001:Abcb5 UTSW 12 118,890,687 (GRCm38) missense probably damaging 1.00
R0078:Abcb5 UTSW 12 118,927,394 (GRCm38) missense probably benign
R0219:Abcb5 UTSW 12 118,886,150 (GRCm38) splice site probably benign
R0312:Abcb5 UTSW 12 118,872,837 (GRCm38) missense probably damaging 1.00
R0347:Abcb5 UTSW 12 118,965,251 (GRCm38) splice site probably benign
R0359:Abcb5 UTSW 12 118,940,332 (GRCm38) missense probably damaging 1.00
R0433:Abcb5 UTSW 12 118,877,810 (GRCm38) missense probably benign 0.03
R0582:Abcb5 UTSW 12 118,940,412 (GRCm38) missense probably benign 0.40
R0815:Abcb5 UTSW 12 118,901,449 (GRCm38) splice site probably benign
R0900:Abcb5 UTSW 12 118,940,624 (GRCm38) missense probably damaging 1.00
R0942:Abcb5 UTSW 12 118,906,198 (GRCm38) missense possibly damaging 0.94
R0988:Abcb5 UTSW 12 118,932,575 (GRCm38) missense probably benign 0.36
R1125:Abcb5 UTSW 12 118,911,547 (GRCm38) missense possibly damaging 0.87
R1437:Abcb5 UTSW 12 118,874,762 (GRCm38) missense probably damaging 0.99
R1469:Abcb5 UTSW 12 118,867,946 (GRCm38) missense possibly damaging 0.83
R1469:Abcb5 UTSW 12 118,867,946 (GRCm38) missense possibly damaging 0.83
R1678:Abcb5 UTSW 12 118,965,329 (GRCm38) start gained probably benign
R1726:Abcb5 UTSW 12 118,907,532 (GRCm38) missense possibly damaging 0.95
R1726:Abcb5 UTSW 12 118,874,801 (GRCm38) splice site probably null
R1836:Abcb5 UTSW 12 118,867,961 (GRCm38) missense possibly damaging 0.93
R1934:Abcb5 UTSW 12 118,907,500 (GRCm38) splice site probably null
R1976:Abcb5 UTSW 12 118,890,682 (GRCm38) missense probably benign
R2005:Abcb5 UTSW 12 118,877,827 (GRCm38) missense probably benign 0.15
R2181:Abcb5 UTSW 12 118,867,946 (GRCm38) missense possibly damaging 0.83
R2191:Abcb5 UTSW 12 118,867,956 (GRCm38) missense probably damaging 1.00
R3690:Abcb5 UTSW 12 118,872,933 (GRCm38) missense probably damaging 1.00
R3746:Abcb5 UTSW 12 118,874,620 (GRCm38) missense probably damaging 0.99
R3825:Abcb5 UTSW 12 118,901,352 (GRCm38) splice site probably null
R3919:Abcb5 UTSW 12 118,890,618 (GRCm38) missense possibly damaging 0.67
R4049:Abcb5 UTSW 12 118,868,669 (GRCm38) missense probably damaging 0.99
R4409:Abcb5 UTSW 12 118,872,922 (GRCm38) missense probably damaging 0.98
R4606:Abcb5 UTSW 12 118,932,610 (GRCm38) critical splice acceptor site probably null
R4705:Abcb5 UTSW 12 118,965,305 (GRCm38) missense possibly damaging 0.95
R4954:Abcb5 UTSW 12 118,911,434 (GRCm38) missense probably benign 0.03
R4966:Abcb5 UTSW 12 118,886,891 (GRCm38) intron probably benign
R5169:Abcb5 UTSW 12 118,877,817 (GRCm38) nonsense probably null
R5327:Abcb5 UTSW 12 118,911,543 (GRCm38) missense probably benign 0.01
R5333:Abcb5 UTSW 12 118,867,942 (GRCm38) missense probably damaging 1.00
R5366:Abcb5 UTSW 12 118,867,930 (GRCm38) missense possibly damaging 0.93
R5373:Abcb5 UTSW 12 118,887,177 (GRCm38) missense probably damaging 1.00
R5399:Abcb5 UTSW 12 118,911,499 (GRCm38) missense probably benign
R5416:Abcb5 UTSW 12 118,907,596 (GRCm38) missense probably damaging 1.00
R5447:Abcb5 UTSW 12 118,927,326 (GRCm38) missense probably damaging 1.00
R5474:Abcb5 UTSW 12 118,940,690 (GRCm38) missense probably null 1.00
R5566:Abcb5 UTSW 12 118,935,967 (GRCm38) missense probably damaging 0.99
R5685:Abcb5 UTSW 12 118,932,613 (GRCm38) splice site probably null
R5691:Abcb5 UTSW 12 118,927,235 (GRCm38) missense probably damaging 0.99
R5742:Abcb5 UTSW 12 118,918,257 (GRCm38) missense probably damaging 0.96
R5852:Abcb5 UTSW 12 118,927,404 (GRCm38) missense probably damaging 0.99
R5917:Abcb5 UTSW 12 118,868,781 (GRCm38) nonsense probably null
R5994:Abcb5 UTSW 12 118,965,260 (GRCm38) critical splice donor site probably null
R6295:Abcb5 UTSW 12 118,874,644 (GRCm38) missense probably damaging 0.99
R6455:Abcb5 UTSW 12 118,890,549 (GRCm38) critical splice donor site probably null
R6609:Abcb5 UTSW 12 118,928,762 (GRCm38) missense probably damaging 1.00
R6753:Abcb5 UTSW 12 118,944,906 (GRCm38) missense possibly damaging 0.86
R6818:Abcb5 UTSW 12 118,901,354 (GRCm38) splice site probably null
R6870:Abcb5 UTSW 12 118,965,265 (GRCm38) missense possibly damaging 0.87
R6944:Abcb5 UTSW 12 118,911,530 (GRCm38) missense probably benign 0.06
R6957:Abcb5 UTSW 12 118,907,535 (GRCm38) missense probably damaging 1.00
R6984:Abcb5 UTSW 12 118,927,277 (GRCm38) missense possibly damaging 0.47
R7021:Abcb5 UTSW 12 118,931,925 (GRCm38) missense probably benign 0.00
R7061:Abcb5 UTSW 12 118,877,774 (GRCm38) missense probably damaging 1.00
R7175:Abcb5 UTSW 12 118,867,876 (GRCm38) missense probably benign 0.00
R7239:Abcb5 UTSW 12 118,928,725 (GRCm38) missense probably benign 0.19
R7267:Abcb5 UTSW 12 118,952,470 (GRCm38) missense probably damaging 1.00
R7303:Abcb5 UTSW 12 118,911,560 (GRCm38) missense probably damaging 0.96
R7396:Abcb5 UTSW 12 118,867,874 (GRCm38) missense probably damaging 1.00
R7605:Abcb5 UTSW 12 118,918,164 (GRCm38) missense probably damaging 1.00
R7989:Abcb5 UTSW 12 118,911,543 (GRCm38) missense probably benign 0.01
R8177:Abcb5 UTSW 12 118,872,790 (GRCm38) missense possibly damaging 0.65
R8296:Abcb5 UTSW 12 118,874,732 (GRCm38) missense probably benign 0.01
R8544:Abcb5 UTSW 12 118,868,726 (GRCm38) missense probably damaging 1.00
R8558:Abcb5 UTSW 12 118,877,831 (GRCm38) missense probably benign 0.07
R8790:Abcb5 UTSW 12 118,867,885 (GRCm38) missense possibly damaging 0.91
R9003:Abcb5 UTSW 12 118,886,278 (GRCm38) missense possibly damaging 0.93
R9038:Abcb5 UTSW 12 118,931,916 (GRCm38) missense probably benign
R9410:Abcb5 UTSW 12 118,905,968 (GRCm38) missense probably benign 0.00
R9497:Abcb5 UTSW 12 118,936,115 (GRCm38) missense probably damaging 0.96
R9666:Abcb5 UTSW 12 118,874,687 (GRCm38) missense probably damaging 0.98
R9682:Abcb5 UTSW 12 118,932,593 (GRCm38) missense probably damaging 0.99
R9756:Abcb5 UTSW 12 118,918,138 (GRCm38) missense probably damaging 0.98
V7580:Abcb5 UTSW 12 118,886,179 (GRCm38) missense probably benign 0.07
Z1176:Abcb5 UTSW 12 118,918,272 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCAATAGAAAACCCAGATATGTTC -3'
(R):5'- TGGGAAACTGTGTTCCTGCC -3'

Sequencing Primer
(F):5'- TGTTCTGAAACATCAGAGGGATC -3'
(R):5'- GAAACTGTGTTCCTGCCTAATG -3'
Posted On 2014-09-17