Incidental Mutation 'R7605:Abcb5'
ID 588260
Institutional Source Beutler Lab
Gene Symbol Abcb5
Ensembl Gene ENSMUSG00000072791
Gene Name ATP-binding cassette, sub-family B member 5
Synonyms 9230106F14Rik
MMRRC Submission 045675-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.177) question?
Stock # R7605 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 118831559-118930156 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 118881899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 610 (L610P)
Ref Sequence ENSEMBL: ENSMUSP00000046177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035515]
AlphaFold B5X0E4
Predicted Effect probably damaging
Transcript: ENSMUST00000035515
AA Change: L610P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: L610P

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Asphd2 A G 5: 112,539,807 (GRCm39) W9R probably damaging Het
Blvrb T A 7: 27,165,218 (GRCm39) H179Q probably damaging Het
Capn13 A T 17: 73,652,132 (GRCm39) probably null Het
Casp6 A T 3: 129,705,812 (GRCm39) M160L probably benign Het
Chordc1 A G 9: 18,215,668 (GRCm39) E140G probably benign Het
Col24a1 A T 3: 145,244,442 (GRCm39) Y1572F possibly damaging Het
Cul9 A G 17: 46,852,658 (GRCm39) S235P probably damaging Het
Cyp2u1 A T 3: 131,091,602 (GRCm39) M306K probably damaging Het
Dhx33 A G 11: 70,890,299 (GRCm39) L240P probably damaging Het
Dna2 T A 10: 62,796,054 (GRCm39) D494E probably benign Het
Dnah7c C T 1: 46,671,470 (GRCm39) R1620C probably damaging Het
Dpp8 G A 9: 64,962,240 (GRCm39) V427M probably benign Het
Dpt G A 1: 164,624,400 (GRCm39) G34S unknown Het
Emb T A 13: 117,401,046 (GRCm39) N198K probably damaging Het
Entpd5 T G 12: 84,443,482 (GRCm39) H62P probably damaging Het
Ep300 A C 15: 81,505,353 (GRCm39) M658L unknown Het
Epb41l4a T A 18: 33,930,504 (GRCm39) D651V probably damaging Het
Epha7 C T 4: 28,871,937 (GRCm39) S422L probably benign Het
Ephb2 A T 4: 136,498,419 (GRCm39) V220E probably damaging Het
Fam187a T A 11: 102,776,874 (GRCm39) L226H possibly damaging Het
Fbxo42 G A 4: 140,927,129 (GRCm39) A470T probably benign Het
Fcgrt C T 7: 44,744,675 (GRCm39) W264* probably null Het
Flt3 A C 5: 147,286,386 (GRCm39) H733Q probably benign Het
Gabrr2 A G 4: 33,082,560 (GRCm39) D228G probably damaging Het
Gars1 T C 6: 55,054,735 (GRCm39) S681P probably damaging Het
Gata2 T C 6: 88,177,390 (GRCm39) V140A possibly damaging Het
Gm8232 A T 14: 44,672,384 (GRCm39) N100I Het
Grik4 A G 9: 42,599,367 (GRCm39) C37R probably damaging Het
Grm8 T C 6: 27,618,678 (GRCm39) E388G probably damaging Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Igsf9b C T 9: 27,234,608 (GRCm39) T491I probably damaging Het
Impa1 C T 3: 10,389,147 (GRCm39) V105I probably damaging Het
Inf2 A G 12: 112,567,771 (GRCm39) T134A probably damaging Het
Itgb4 T A 11: 115,897,302 (GRCm39) V1521E probably benign Het
Iws1 T A 18: 32,222,540 (GRCm39) D623E probably benign Het
Lhfpl5 T C 17: 28,795,305 (GRCm39) S111P possibly damaging Het
Lyzl1 T C 18: 4,169,244 (GRCm39) C83R probably damaging Het
Madd G A 2: 91,000,055 (GRCm39) T617M possibly damaging Het
Magi2 A G 5: 20,433,383 (GRCm39) T163A probably damaging Het
Mdn1 C A 4: 32,694,599 (GRCm39) H1107Q probably damaging Het
Mfsd14b A T 13: 65,214,591 (GRCm39) Y454N probably benign Het
Mrgprb3 T A 7: 48,292,862 (GRCm39) I230F probably benign Het
Mroh2b C T 15: 4,974,505 (GRCm39) L1162F probably damaging Het
Or11i1 G T 3: 106,729,337 (GRCm39) H179Q probably damaging Het
Or2aj5 T C 16: 19,425,022 (GRCm39) Y131C probably damaging Het
Or51f23b C T 7: 102,402,952 (GRCm39) M61I probably benign Het
Or51m1 T C 7: 103,578,075 (GRCm39) L15P probably damaging Het
Or5ar1 A G 2: 85,671,383 (GRCm39) F251L probably benign Het
Or9e1 A G 11: 58,732,326 (GRCm39) I129V probably benign Het
Pclo T C 5: 14,729,050 (GRCm39) L2636P unknown Het
Pfkm G A 15: 98,019,191 (GRCm39) A181T probably damaging Het
Pik3r1 C T 13: 101,839,346 (GRCm39) A169T probably benign Het
R3hdml T A 2: 163,337,688 (GRCm39) M114K probably damaging Het
Robo1 C A 16: 72,821,189 (GRCm39) R1310S probably benign Het
Scnm1 A T 3: 95,040,186 (GRCm39) N115K probably benign Het
Sfn A G 4: 133,328,548 (GRCm39) V178A probably damaging Het
Shank2 C T 7: 143,645,516 (GRCm39) T366I possibly damaging Het
Siah1a T C 8: 87,451,953 (GRCm39) D177G probably damaging Het
Slc37a2 A C 9: 37,148,624 (GRCm39) I286S possibly damaging Het
Smarce1 T C 11: 99,119,118 (GRCm39) T12A probably benign Het
Spata31d1c T A 13: 65,183,654 (GRCm39) S399T probably benign Het
Specc1 A G 11: 62,102,506 (GRCm39) S942G possibly damaging Het
Syt13 T C 2: 92,773,478 (GRCm39) F164S probably benign Het
Topbp1 A T 9: 103,209,905 (GRCm39) T851S probably benign Het
Ttn A T 2: 76,800,015 (GRCm39) S398T unknown Het
Vmn1r12 T C 6: 57,136,521 (GRCm39) V206A probably damaging Het
Vmn1r224 G A 17: 20,640,221 (GRCm39) W266* probably null Het
Vmn2r68 T C 7: 84,883,116 (GRCm39) D212G probably benign Het
Vps13b G T 15: 35,770,792 (GRCm39) K2078N probably damaging Het
Zfp251 A C 15: 76,738,557 (GRCm39) F179V possibly damaging 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
R2068:Abcb5 UTSW 12 118,904,303 (GRCm39) nonsense probably null
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
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'- TCAGTTGCACAACCAAGTGG -3'
(R):5'- GCCCTGACTATTGCACAAGTTATC -3'

Sequencing Primer
(F):5'- GATTGTCTTTTTAATCTCTGCATTGC -3'
(R):5'- GCACAAGTTATCTCTAACACTCTTC -3'
Posted On 2019-10-24