Incidental Mutation 'R2068:Abcb5'
ID 226868
Institutional Source Beutler Lab
Gene Symbol Abcb5
Ensembl Gene ENSMUSG00000072791
Gene Name ATP-binding cassette, sub-family B member 5
Synonyms 9230106F14Rik
MMRRC Submission 040073-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R2068 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 118831559-118930156 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 118904303 bp (GRCm39)
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: 66,964,308 (GRCm39) I184L probably benign Het
Akr1c19 A T 13: 4,288,391 (GRCm39) probably null Het
Akt3 A G 1: 176,930,551 (GRCm39) S136P possibly damaging Het
Alox12e G A 11: 70,206,828 (GRCm39) R620W probably damaging Het
Ascc2 A T 11: 4,631,496 (GRCm39) M646L probably benign Het
Bsn T G 9: 107,987,883 (GRCm39) probably benign Het
Bsn T A 9: 108,003,749 (GRCm39) M219L possibly damaging Het
Btnl9 T C 11: 49,060,390 (GRCm39) T453A probably damaging Het
C6 G T 15: 4,820,552 (GRCm39) C521F probably damaging Het
Ccnt1 A T 15: 98,449,823 (GRCm39) H156Q probably benign Het
Cdh20 A T 1: 110,065,666 (GRCm39) R647* probably null Het
Clptm1l C T 13: 73,755,842 (GRCm39) Q153* probably null Het
Cmya5 T A 13: 93,227,032 (GRCm39) K2685N possibly damaging Het
Cnksr2 A C X: 156,728,302 (GRCm39) S224R possibly damaging Het
Cntn1 T C 15: 92,215,943 (GRCm39) V992A possibly damaging Het
Dapk1 G A 13: 60,899,022 (GRCm39) D831N probably damaging Het
Dnaaf3 T C 7: 4,526,798 (GRCm39) I426M possibly damaging Het
Dnah6 A G 6: 72,998,165 (GRCm39) Y4034H probably benign Het
Dtx2 C T 5: 136,059,431 (GRCm39) S493F probably damaging Het
Ehd1 T C 19: 6,348,108 (GRCm39) L362P probably benign Het
Endov T C 11: 119,390,408 (GRCm39) F12S probably damaging Het
Eps8 A T 6: 137,499,172 (GRCm39) W239R probably benign Het
Fance T C 17: 28,539,799 (GRCm39) F83S possibly damaging Het
Fn1 A G 1: 71,639,598 (GRCm39) V1731A probably damaging Het
Gak G T 5: 108,718,091 (GRCm39) T1244K probably benign Het
Gas8 T A 8: 124,253,276 (GRCm39) I208N probably damaging Het
Gm9830 A T 9: 44,375,579 (GRCm39) noncoding transcript Het
Gm9837 T A 11: 53,361,092 (GRCm39) probably benign Het
Gtf2f2 A G 14: 76,155,136 (GRCm39) S142P possibly damaging Het
Hdac3 C A 18: 38,076,569 (GRCm39) G257V probably damaging Het
Heg1 A G 16: 33,547,960 (GRCm39) T916A probably benign Het
Herc2 G T 7: 55,782,245 (GRCm39) G1311C probably damaging Het
Htt C T 5: 34,983,326 (GRCm39) T975I probably benign Het
Il2rg A G X: 100,311,416 (GRCm39) L57P possibly damaging Het
Itm2b T C 14: 73,600,575 (GRCm39) K242E probably damaging Het
Itpr3 G A 17: 27,317,050 (GRCm39) M768I probably benign Het
Klrg2 G A 6: 38,613,928 (GRCm39) T25I probably benign Het
Lcn5 G A 2: 25,548,053 (GRCm39) V21M probably damaging Het
Liat1 T C 11: 75,891,077 (GRCm39) S64P possibly damaging Het
Lonp2 A G 8: 87,392,403 (GRCm39) T490A probably damaging Het
Lrrn3 A T 12: 41,502,995 (GRCm39) S441T probably damaging Het
Mpdz G A 4: 81,254,067 (GRCm39) R1W probably null Het
Mpp4 G A 1: 59,182,941 (GRCm39) P322L possibly damaging Het
Mpzl2 G A 9: 44,955,169 (GRCm39) probably null Het
Naf1 A G 8: 67,340,432 (GRCm39) D414G probably damaging Het
Notch3 A G 17: 32,354,482 (GRCm39) C1748R probably benign Het
Nup133 C A 8: 124,641,314 (GRCm39) D869Y probably damaging Het
Oasl2 A C 5: 115,049,298 (GRCm39) D466A probably benign Het
Opa3 T C 7: 18,978,739 (GRCm39) I68T possibly damaging Het
Or2ab1 A G 11: 58,488,396 (GRCm39) N58S probably damaging Het
Or2ag1 T A 7: 106,313,373 (GRCm39) R172W probably benign Het
Or2d3c T G 7: 106,526,162 (GRCm39) Y168S probably damaging Het
Or5p63 T C 7: 107,811,547 (GRCm39) Y63C probably damaging Het
Or8g37 T C 9: 39,731,846 (GRCm39) F304L probably benign Het
Pcdh8 A T 14: 80,005,651 (GRCm39) S912R probably damaging Het
Pdzrn3 T C 6: 101,127,660 (GRCm39) E1002G probably damaging Het
Pik3c2a A T 7: 115,972,126 (GRCm39) L768* probably null Het
Plxna4 A G 6: 32,494,551 (GRCm39) S22P possibly damaging Het
Plxnb3 T A X: 72,815,357 (GRCm39) Y1845* probably null Het
Pramel11 T C 4: 143,623,482 (GRCm39) M231V probably damaging Het
Prl7a2 T A 13: 27,844,870 (GRCm39) Y172F probably damaging Het
Pum1 A G 4: 130,501,745 (GRCm39) T845A probably benign Het
Rad21l T C 2: 151,509,927 (GRCm39) H58R probably damaging Het
Rgma A C 7: 73,059,379 (GRCm39) D161A probably damaging Het
Scai T C 2: 39,013,025 (GRCm39) Y135C probably damaging Het
Scn2a T A 2: 65,582,417 (GRCm39) H1588Q probably benign Het
Sdha A T 13: 74,472,087 (GRCm39) probably null Het
Slc12a3 A G 8: 95,072,456 (GRCm39) D658G probably damaging Het
Slc5a3 A G 16: 91,874,128 (GRCm39) S62G probably damaging Het
Spata13 GTTAGGCT GT 14: 60,998,320 (GRCm39) probably benign Het
Sulf1 A G 1: 12,910,627 (GRCm39) I649V probably damaging Het
Thbs1 C T 2: 117,954,018 (GRCm39) Q1090* probably null Het
Tjp2 C A 19: 24,099,687 (GRCm39) R400L probably benign Het
Tle4 A T 19: 14,427,113 (GRCm39) Y769* probably null Het
Trmt5 A T 12: 73,331,444 (GRCm39) probably null Het
Troap T C 15: 98,980,344 (GRCm39) L508P probably benign Het
Ubac2 T A 14: 122,145,691 (GRCm39) Y116* probably null Het
Ugt2b36 T C 5: 87,240,100 (GRCm39) E95G probably benign Het
Ush1c T C 7: 45,878,905 (GRCm39) Y74C probably damaging Het
Usp36 T C 11: 118,165,844 (GRCm39) T160A possibly damaging Het
Usp54 G T 14: 20,627,273 (GRCm39) P462T probably damaging Het
Vmn1r55 A G 7: 5,150,048 (GRCm39) V125A possibly damaging Het
Vps11 A G 9: 44,269,613 (GRCm39) S213P probably damaging Het
Zfp668 C T 7: 127,465,837 (GRCm39) G449D probably benign Het
Other mutations in Abcb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Abcb5 APN 12 118,854,345 (GRCm39) missense probably benign 0.03
IGL00092:Abcb5 APN 12 118,892,430 (GRCm39) missense probably benign 0.09
IGL00503:Abcb5 APN 12 118,871,336 (GRCm39) missense probably benign 0.02
IGL00776:Abcb5 APN 12 118,883,589 (GRCm39) missense probably damaging 1.00
IGL01116:Abcb5 APN 12 118,849,911 (GRCm39) missense probably benign
IGL01302:Abcb5 APN 12 118,881,935 (GRCm39) missense probably damaging 1.00
IGL01403:Abcb5 APN 12 118,836,602 (GRCm39) missense probably damaging 1.00
IGL01453:Abcb5 APN 12 118,831,705 (GRCm39) missense probably damaging 1.00
IGL01541:Abcb5 APN 12 118,875,169 (GRCm39) missense probably benign 0.03
IGL01784:Abcb5 APN 12 118,854,399 (GRCm39) missense probably benign 0.14
IGL01967:Abcb5 APN 12 118,831,707 (GRCm39) missense probably damaging 1.00
IGL01987:Abcb5 APN 12 118,891,093 (GRCm39) missense probably damaging 1.00
IGL02104:Abcb5 APN 12 118,904,415 (GRCm39) missense probably damaging 1.00
IGL02161:Abcb5 APN 12 118,838,490 (GRCm39) missense probably benign
IGL02292:Abcb5 APN 12 118,881,932 (GRCm39) missense probably damaging 1.00
IGL02381:Abcb5 APN 12 118,904,413 (GRCm39) missense probably damaging 1.00
IGL02544:Abcb5 APN 12 118,870,003 (GRCm39) splice site probably benign
IGL02685:Abcb5 APN 12 118,869,682 (GRCm39) missense probably damaging 0.99
IGL02824:Abcb5 APN 12 118,854,420 (GRCm39) missense probably benign 0.05
IGL02876:Abcb5 APN 12 118,883,576 (GRCm39) missense probably damaging 1.00
IGL02929:Abcb5 APN 12 118,908,674 (GRCm39) missense probably damaging 0.99
IGL03030:Abcb5 APN 12 118,904,104 (GRCm39) missense possibly damaging 0.93
IGL03062:Abcb5 APN 12 118,899,822 (GRCm39) missense probably benign 0.43
IGL03200:Abcb5 APN 12 118,928,989 (GRCm39) splice site probably benign
IGL03407:Abcb5 APN 12 118,904,111 (GRCm39) missense probably benign 0.01
alphabet UTSW 12 118,854,353 (GRCm39) missense possibly damaging 0.67
google UTSW 12 118,831,665 (GRCm39) missense possibly damaging 0.93
F5770:Abcb5 UTSW 12 118,849,914 (GRCm39) missense probably benign 0.07
PIT4366001:Abcb5 UTSW 12 118,899,833 (GRCm39) missense probably damaging 1.00
PIT4434001:Abcb5 UTSW 12 118,854,422 (GRCm39) missense probably damaging 1.00
R0078:Abcb5 UTSW 12 118,891,129 (GRCm39) missense probably benign
R0219:Abcb5 UTSW 12 118,849,885 (GRCm39) splice site probably benign
R0312:Abcb5 UTSW 12 118,836,572 (GRCm39) missense probably damaging 1.00
R0347:Abcb5 UTSW 12 118,928,986 (GRCm39) splice site probably benign
R0359:Abcb5 UTSW 12 118,904,067 (GRCm39) missense probably damaging 1.00
R0433:Abcb5 UTSW 12 118,841,545 (GRCm39) missense probably benign 0.03
R0582:Abcb5 UTSW 12 118,904,147 (GRCm39) missense probably benign 0.40
R0815:Abcb5 UTSW 12 118,865,184 (GRCm39) splice site probably benign
R0900:Abcb5 UTSW 12 118,904,359 (GRCm39) missense probably damaging 1.00
R0942:Abcb5 UTSW 12 118,869,933 (GRCm39) missense possibly damaging 0.94
R0988:Abcb5 UTSW 12 118,896,310 (GRCm39) missense probably benign 0.36
R1125:Abcb5 UTSW 12 118,875,282 (GRCm39) missense possibly damaging 0.87
R1437:Abcb5 UTSW 12 118,838,497 (GRCm39) missense probably damaging 0.99
R1469:Abcb5 UTSW 12 118,831,681 (GRCm39) missense possibly damaging 0.83
R1469:Abcb5 UTSW 12 118,831,681 (GRCm39) missense possibly damaging 0.83
R1678:Abcb5 UTSW 12 118,929,064 (GRCm39) start gained probably benign
R1726:Abcb5 UTSW 12 118,871,267 (GRCm39) missense possibly damaging 0.95
R1726:Abcb5 UTSW 12 118,838,536 (GRCm39) splice site probably null
R1836:Abcb5 UTSW 12 118,831,696 (GRCm39) missense possibly damaging 0.93
R1934:Abcb5 UTSW 12 118,871,235 (GRCm39) splice site probably null
R1976:Abcb5 UTSW 12 118,854,417 (GRCm39) missense probably benign
R2005:Abcb5 UTSW 12 118,841,562 (GRCm39) missense probably benign 0.15
R2181:Abcb5 UTSW 12 118,831,681 (GRCm39) missense possibly damaging 0.83
R2191:Abcb5 UTSW 12 118,831,691 (GRCm39) missense probably damaging 1.00
R3690:Abcb5 UTSW 12 118,836,668 (GRCm39) missense probably damaging 1.00
R3746:Abcb5 UTSW 12 118,838,355 (GRCm39) missense probably damaging 0.99
R3825:Abcb5 UTSW 12 118,865,087 (GRCm39) splice site probably null
R3919:Abcb5 UTSW 12 118,854,353 (GRCm39) missense possibly damaging 0.67
R4049:Abcb5 UTSW 12 118,832,404 (GRCm39) missense probably damaging 0.99
R4409:Abcb5 UTSW 12 118,836,657 (GRCm39) missense probably damaging 0.98
R4606:Abcb5 UTSW 12 118,896,345 (GRCm39) critical splice acceptor site probably null
R4705:Abcb5 UTSW 12 118,929,040 (GRCm39) missense possibly damaging 0.95
R4954:Abcb5 UTSW 12 118,875,169 (GRCm39) missense probably benign 0.03
R4966:Abcb5 UTSW 12 118,850,626 (GRCm39) intron probably benign
R5169:Abcb5 UTSW 12 118,841,552 (GRCm39) nonsense probably null
R5327:Abcb5 UTSW 12 118,875,278 (GRCm39) missense probably benign 0.01
R5333:Abcb5 UTSW 12 118,831,677 (GRCm39) missense probably damaging 1.00
R5366:Abcb5 UTSW 12 118,831,665 (GRCm39) missense possibly damaging 0.93
R5373:Abcb5 UTSW 12 118,850,912 (GRCm39) missense probably damaging 1.00
R5399:Abcb5 UTSW 12 118,875,234 (GRCm39) missense probably benign
R5416:Abcb5 UTSW 12 118,871,331 (GRCm39) missense probably damaging 1.00
R5447:Abcb5 UTSW 12 118,891,061 (GRCm39) missense probably damaging 1.00
R5474:Abcb5 UTSW 12 118,904,425 (GRCm39) missense probably null 1.00
R5566:Abcb5 UTSW 12 118,899,702 (GRCm39) missense probably damaging 0.99
R5685:Abcb5 UTSW 12 118,896,348 (GRCm39) splice site probably null
R5691:Abcb5 UTSW 12 118,890,970 (GRCm39) missense probably damaging 0.99
R5742:Abcb5 UTSW 12 118,881,992 (GRCm39) missense probably damaging 0.96
R5852:Abcb5 UTSW 12 118,891,139 (GRCm39) missense probably damaging 0.99
R5917:Abcb5 UTSW 12 118,832,516 (GRCm39) nonsense probably null
R5994:Abcb5 UTSW 12 118,928,995 (GRCm39) critical splice donor site probably null
R6295:Abcb5 UTSW 12 118,838,379 (GRCm39) missense probably damaging 0.99
R6455:Abcb5 UTSW 12 118,854,284 (GRCm39) critical splice donor site probably null
R6609:Abcb5 UTSW 12 118,892,497 (GRCm39) missense probably damaging 1.00
R6753:Abcb5 UTSW 12 118,908,641 (GRCm39) missense possibly damaging 0.86
R6818:Abcb5 UTSW 12 118,865,089 (GRCm39) splice site probably null
R6870:Abcb5 UTSW 12 118,929,000 (GRCm39) missense possibly damaging 0.87
R6944:Abcb5 UTSW 12 118,875,265 (GRCm39) missense probably benign 0.06
R6957:Abcb5 UTSW 12 118,871,270 (GRCm39) missense probably damaging 1.00
R6984:Abcb5 UTSW 12 118,891,012 (GRCm39) missense possibly damaging 0.47
R7021:Abcb5 UTSW 12 118,895,660 (GRCm39) missense probably benign 0.00
R7061:Abcb5 UTSW 12 118,841,509 (GRCm39) missense probably damaging 1.00
R7175:Abcb5 UTSW 12 118,831,611 (GRCm39) missense probably benign 0.00
R7239:Abcb5 UTSW 12 118,892,460 (GRCm39) missense probably benign 0.19
R7267:Abcb5 UTSW 12 118,916,205 (GRCm39) missense probably damaging 1.00
R7303:Abcb5 UTSW 12 118,875,295 (GRCm39) missense probably damaging 0.96
R7396:Abcb5 UTSW 12 118,831,609 (GRCm39) missense probably damaging 1.00
R7605:Abcb5 UTSW 12 118,881,899 (GRCm39) missense probably damaging 1.00
R7989:Abcb5 UTSW 12 118,875,278 (GRCm39) missense probably benign 0.01
R8177:Abcb5 UTSW 12 118,836,525 (GRCm39) missense possibly damaging 0.65
R8296:Abcb5 UTSW 12 118,838,467 (GRCm39) missense probably benign 0.01
R8544:Abcb5 UTSW 12 118,832,461 (GRCm39) missense probably damaging 1.00
R8558:Abcb5 UTSW 12 118,841,566 (GRCm39) missense probably benign 0.07
R8790:Abcb5 UTSW 12 118,831,620 (GRCm39) missense possibly damaging 0.91
R9003:Abcb5 UTSW 12 118,850,013 (GRCm39) missense possibly damaging 0.93
R9038:Abcb5 UTSW 12 118,895,651 (GRCm39) missense probably benign
R9410:Abcb5 UTSW 12 118,869,703 (GRCm39) missense probably benign 0.00
R9497:Abcb5 UTSW 12 118,899,850 (GRCm39) missense probably damaging 0.96
R9666:Abcb5 UTSW 12 118,838,422 (GRCm39) missense probably damaging 0.98
R9682:Abcb5 UTSW 12 118,896,328 (GRCm39) missense probably damaging 0.99
R9756:Abcb5 UTSW 12 118,881,873 (GRCm39) missense probably damaging 0.98
V7580:Abcb5 UTSW 12 118,849,914 (GRCm39) missense probably benign 0.07
Z1176:Abcb5 UTSW 12 118,882,007 (GRCm39) 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