Incidental Mutation 'R9666:Abcb5'
ID 735736
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.215) question?
Stock # R9666 (G1)
Quality Score 225.009
Status Not validated
Chromosome 12
Chromosomal Location 118867824-118966421 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 118874687 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Leucine at position 1047 (V1047L)
Ref Sequence ENSEMBL: ENSMUSP00000046177 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035515]
AlphaFold B5X0E4
Predicted Effect probably damaging
Transcript: ENSMUST00000035515
AA Change: V1047L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046177
Gene: ENSMUSG00000072791
AA Change: V1047L

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: 99.9%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.4%
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AF529169 A T 9: 89,602,019 S442T probably benign Het
Akap6 G A 12: 53,141,535 A1911T probably benign Het
Ank2 T A 3: 126,933,189 K819* probably null Het
Apc2 A G 10: 80,311,349 R746G possibly damaging Het
Baz1a A G 12: 54,941,560 I268T probably benign Het
Bysl A G 17: 47,603,940 I206T probably benign Het
Ccdc70 A C 8: 21,973,341 E49A possibly damaging Het
Chd1 A T 17: 15,735,714 H525L probably damaging Het
Col4a4 T C 1: 82,518,949 E442G unknown Het
Cpd G A 11: 76,802,307 P718S probably benign Het
Dip2b T A 15: 100,209,580 I1391N probably damaging Het
Dpp9 T C 17: 56,194,946 T541A probably damaging Het
Dst C T 1: 34,179,866 Q1796* probably null Het
Gm10267 T C 18: 44,158,330 I25V probably benign Het
Gm13083 A G 4: 143,615,129 T43A probably benign Het
Gm32742 C T 9: 51,150,141 R744Q probably benign Het
Gm37240 T C 3: 84,515,645 Y139C probably damaging Het
Gm39115 A G 7: 142,135,518 C173R unknown Het
Grm6 T G 11: 50,860,050 V680G probably damaging Het
Grxcr2 C T 18: 41,998,891 D38N probably damaging Het
Iah1 G A 12: 21,316,586 R52H probably damaging Het
Ift43 A G 12: 86,085,146 Y36C possibly damaging Het
Igf2r T C 17: 12,726,701 I334V probably benign Het
Igfn1 T A 1: 135,969,954 Q958L possibly damaging Het
Il4i1 G A 7: 44,839,839 A343T possibly damaging Het
Ints1 T C 5: 139,762,462 I1128V probably benign Het
Irx1 C A 13: 71,963,469 G7V probably damaging Het
Krr1 A G 10: 111,982,991 R312G possibly damaging Het
Lmna CAGCACGGTGCGTGAGC CAGC 3: 88,482,550 probably null Het
Lpin2 A T 17: 71,222,070 N108Y probably damaging Het
Man2a1 A T 17: 64,636,562 E204V possibly damaging Het
Megf8 A G 7: 25,330,741 T434A possibly damaging Het
Muc16 T C 9: 18,655,989 T1745A unknown Het
Mycbp2 G T 14: 103,134,038 P4135T probably damaging Het
Nuggc T C 14: 65,619,596 V398A possibly damaging Het
Olfr1131 C T 2: 87,628,808 A115V possibly damaging Het
Olfr2 A T 7: 107,000,892 S323T probably benign Het
Olfr308 A G 7: 86,321,236 S239P probably damaging Het
Olfr381 A G 11: 73,486,059 I255T probably damaging Het
Olfr389 A T 11: 73,777,150 M59K probably damaging Het
Olfr49 G T 14: 54,282,885 N3K probably damaging Het
Parg A G 14: 32,242,337 N653S probably damaging Het
Plek A G 11: 16,995,346 F18L probably benign Het
Pnoc A G 14: 65,401,798 I206T possibly damaging Het
Ppp4r3a T C 12: 101,082,870 M1V probably null Het
Psg22 T C 7: 18,724,323 V313A probably benign Het
Ptk2b G T 14: 66,172,097 P497T probably damaging Het
Rer1 A G 4: 155,075,587 probably null Het
Rnf130 A G 11: 50,095,791 T321A probably benign Het
Rnf207 A T 4: 152,313,260 F346I probably damaging Het
Rraga T A 4: 86,576,337 I140N possibly damaging Het
Rusc2 A T 4: 43,416,262 M523L probably benign Het
Sh3bp1 T A 15: 78,908,422 V495D probably benign Het
Slc44a5 T C 3: 154,240,289 L153P probably benign Het
Spag16 T C 1: 70,724,913 S631P probably damaging Het
Syne1 A C 10: 5,034,937 L747R probably damaging Het
Tac1 A G 6: 7,555,675 E21G probably benign Het
Tekt2 C T 4: 126,323,651 R207H probably damaging Het
Tln1 T C 4: 43,542,957 D1344G probably damaging Het
Tnc C T 4: 64,007,808 E912K probably damaging Het
Trav16d-dv11 A G 14: 53,047,580 T38A probably benign Het
Trbv15 T A 6: 41,141,430 L40Q probably damaging Het
Trpa1 T C 1: 14,903,231 I288V possibly damaging Het
Ttn A T 2: 76,774,597 I18331N probably damaging Het
Tubgcp2 A T 7: 140,007,923 I263N probably damaging Het
Ugt8a T C 3: 125,915,308 H51R probably benign Het
Vmn2r2 T C 3: 64,116,449 T904A probably benign Het
Zfp575 G A 7: 24,585,898 T106M probably damaging Het
Zfp617 A G 8: 71,932,695 T290A probably benign Het
Zfp809 T C 9: 22,238,567 V120A probably benign Het
Other mutations in Abcb5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00090:Abcb5 APN 12 118890610 missense probably benign 0.03
IGL00092:Abcb5 APN 12 118928695 missense probably benign 0.09
IGL00503:Abcb5 APN 12 118907601 missense probably benign 0.02
IGL00776:Abcb5 APN 12 118919854 missense probably damaging 1.00
IGL01116:Abcb5 APN 12 118886176 missense probably benign
IGL01302:Abcb5 APN 12 118918200 missense probably damaging 1.00
IGL01403:Abcb5 APN 12 118872867 missense probably damaging 1.00
IGL01453:Abcb5 APN 12 118867970 missense probably damaging 1.00
IGL01541:Abcb5 APN 12 118911434 missense probably benign 0.03
IGL01784:Abcb5 APN 12 118890664 missense probably benign 0.14
IGL01967:Abcb5 APN 12 118867972 missense probably damaging 1.00
IGL01987:Abcb5 APN 12 118927358 missense probably damaging 1.00
IGL02104:Abcb5 APN 12 118940680 missense probably damaging 1.00
IGL02161:Abcb5 APN 12 118874755 missense probably benign
IGL02292:Abcb5 APN 12 118918197 missense probably damaging 1.00
IGL02381:Abcb5 APN 12 118940678 missense probably damaging 1.00
IGL02544:Abcb5 APN 12 118906268 splice site probably benign
IGL02685:Abcb5 APN 12 118905947 missense probably damaging 0.99
IGL02824:Abcb5 APN 12 118890685 missense probably benign 0.05
IGL02876:Abcb5 APN 12 118919841 missense probably damaging 1.00
IGL02929:Abcb5 APN 12 118944939 missense probably damaging 0.99
IGL03030:Abcb5 APN 12 118940369 missense possibly damaging 0.93
IGL03062:Abcb5 APN 12 118936087 missense probably benign 0.43
IGL03200:Abcb5 APN 12 118965254 splice site probably benign
IGL03407:Abcb5 APN 12 118940376 missense probably benign 0.01
alphabet UTSW 12 118890618 missense possibly damaging 0.67
google UTSW 12 118867930 missense possibly damaging 0.93
F5770:Abcb5 UTSW 12 118886179 missense probably benign 0.07
PIT4366001:Abcb5 UTSW 12 118936098 missense probably damaging 1.00
PIT4434001:Abcb5 UTSW 12 118890687 missense probably damaging 1.00
R0078:Abcb5 UTSW 12 118927394 missense probably benign
R0219:Abcb5 UTSW 12 118886150 splice site probably benign
R0312:Abcb5 UTSW 12 118872837 missense probably damaging 1.00
R0347:Abcb5 UTSW 12 118965251 splice site probably benign
R0359:Abcb5 UTSW 12 118940332 missense probably damaging 1.00
R0433:Abcb5 UTSW 12 118877810 missense probably benign 0.03
R0582:Abcb5 UTSW 12 118940412 missense probably benign 0.40
R0815:Abcb5 UTSW 12 118901449 splice site probably benign
R0900:Abcb5 UTSW 12 118940624 missense probably damaging 1.00
R0942:Abcb5 UTSW 12 118906198 missense possibly damaging 0.94
R0988:Abcb5 UTSW 12 118932575 missense probably benign 0.36
R1125:Abcb5 UTSW 12 118911547 missense possibly damaging 0.87
R1437:Abcb5 UTSW 12 118874762 missense probably damaging 0.99
R1469:Abcb5 UTSW 12 118867946 missense possibly damaging 0.83
R1469:Abcb5 UTSW 12 118867946 missense possibly damaging 0.83
R1678:Abcb5 UTSW 12 118965329 start gained probably benign
R1726:Abcb5 UTSW 12 118874801 splice site probably null
R1726:Abcb5 UTSW 12 118907532 missense possibly damaging 0.95
R1836:Abcb5 UTSW 12 118867961 missense possibly damaging 0.93
R1934:Abcb5 UTSW 12 118907500 splice site probably null
R1976:Abcb5 UTSW 12 118890682 missense probably benign
R2005:Abcb5 UTSW 12 118877827 missense probably benign 0.15
R2068:Abcb5 UTSW 12 118940568 nonsense probably null
R2181:Abcb5 UTSW 12 118867946 missense possibly damaging 0.83
R2191:Abcb5 UTSW 12 118867956 missense probably damaging 1.00
R3690:Abcb5 UTSW 12 118872933 missense probably damaging 1.00
R3746:Abcb5 UTSW 12 118874620 missense probably damaging 0.99
R3825:Abcb5 UTSW 12 118901352 splice site probably null
R3919:Abcb5 UTSW 12 118890618 missense possibly damaging 0.67
R4049:Abcb5 UTSW 12 118868669 missense probably damaging 0.99
R4409:Abcb5 UTSW 12 118872922 missense probably damaging 0.98
R4606:Abcb5 UTSW 12 118932610 critical splice acceptor site probably null
R4705:Abcb5 UTSW 12 118965305 missense possibly damaging 0.95
R4954:Abcb5 UTSW 12 118911434 missense probably benign 0.03
R4966:Abcb5 UTSW 12 118886891 intron probably benign
R5169:Abcb5 UTSW 12 118877817 nonsense probably null
R5327:Abcb5 UTSW 12 118911543 missense probably benign 0.01
R5333:Abcb5 UTSW 12 118867942 missense probably damaging 1.00
R5366:Abcb5 UTSW 12 118867930 missense possibly damaging 0.93
R5373:Abcb5 UTSW 12 118887177 missense probably damaging 1.00
R5399:Abcb5 UTSW 12 118911499 missense probably benign
R5416:Abcb5 UTSW 12 118907596 missense probably damaging 1.00
R5447:Abcb5 UTSW 12 118927326 missense probably damaging 1.00
R5474:Abcb5 UTSW 12 118940690 missense probably null 1.00
R5566:Abcb5 UTSW 12 118935967 missense probably damaging 0.99
R5685:Abcb5 UTSW 12 118932613 splice site probably null
R5691:Abcb5 UTSW 12 118927235 missense probably damaging 0.99
R5742:Abcb5 UTSW 12 118918257 missense probably damaging 0.96
R5852:Abcb5 UTSW 12 118927404 missense probably damaging 0.99
R5917:Abcb5 UTSW 12 118868781 nonsense probably null
R5994:Abcb5 UTSW 12 118965260 critical splice donor site probably null
R6295:Abcb5 UTSW 12 118874644 missense probably damaging 0.99
R6455:Abcb5 UTSW 12 118890549 critical splice donor site probably null
R6609:Abcb5 UTSW 12 118928762 missense probably damaging 1.00
R6753:Abcb5 UTSW 12 118944906 missense possibly damaging 0.86
R6818:Abcb5 UTSW 12 118901354 splice site probably null
R6870:Abcb5 UTSW 12 118965265 missense possibly damaging 0.87
R6944:Abcb5 UTSW 12 118911530 missense probably benign 0.06
R6957:Abcb5 UTSW 12 118907535 missense probably damaging 1.00
R6984:Abcb5 UTSW 12 118927277 missense possibly damaging 0.47
R7021:Abcb5 UTSW 12 118931925 missense probably benign 0.00
R7061:Abcb5 UTSW 12 118877774 missense probably damaging 1.00
R7175:Abcb5 UTSW 12 118867876 missense probably benign 0.00
R7239:Abcb5 UTSW 12 118928725 missense probably benign 0.19
R7267:Abcb5 UTSW 12 118952470 missense probably damaging 1.00
R7303:Abcb5 UTSW 12 118911560 missense probably damaging 0.96
R7396:Abcb5 UTSW 12 118867874 missense probably damaging 1.00
R7605:Abcb5 UTSW 12 118918164 missense probably damaging 1.00
R7989:Abcb5 UTSW 12 118911543 missense probably benign 0.01
R8177:Abcb5 UTSW 12 118872790 missense possibly damaging 0.65
R8296:Abcb5 UTSW 12 118874732 missense probably benign 0.01
R8544:Abcb5 UTSW 12 118868726 missense probably damaging 1.00
R8558:Abcb5 UTSW 12 118877831 missense probably benign 0.07
R8790:Abcb5 UTSW 12 118867885 missense possibly damaging 0.91
R9003:Abcb5 UTSW 12 118886278 missense possibly damaging 0.93
R9038:Abcb5 UTSW 12 118931916 missense probably benign
R9410:Abcb5 UTSW 12 118905968 missense probably benign 0.00
R9497:Abcb5 UTSW 12 118936115 missense probably damaging 0.96
R9682:Abcb5 UTSW 12 118932593 missense probably damaging 0.99
R9756:Abcb5 UTSW 12 118918138 missense probably damaging 0.98
V7580:Abcb5 UTSW 12 118886179 missense probably benign 0.07
Z1176:Abcb5 UTSW 12 118918272 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TACCCACCAGTTTTGTTGTGG -3'
(R):5'- ACCATGGGTGCAACTTTCC -3'

Sequencing Primer
(F):5'- GCTGCTGTTCCTTAGGTAGG -3'
(R):5'- CTATGTCCACTGTAAACACTGC -3'
Posted On 2022-11-14