Incidental Mutation 'R2273:Abca5'
ID 242669
Institutional Source Beutler Lab
Gene Symbol Abca5
Ensembl Gene ENSMUSG00000018800
Gene Name ATP-binding cassette, sub-family A member 5
Synonyms ABC13, B930033A02Rik
MMRRC Submission 040273-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R2273 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 110160195-110228542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110166107 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 1556 (N1556K)
Ref Sequence ENSEMBL: ENSMUSP00000047927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043961]
AlphaFold Q8K448
Predicted Effect possibly damaging
Transcript: ENSMUST00000043961
AA Change: N1556K

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: N1556K

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 29 416 4.3e-33 PFAM
AAA 506 691 2.88e-8 SMART
low complexity region 733 744 N/A INTRINSIC
transmembrane domain 864 886 N/A INTRINSIC
transmembrane domain 971 993 N/A INTRINSIC
low complexity region 1262 1267 N/A INTRINSIC
AAA 1325 1512 3.52e-3 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This encoded protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300003K06Rik A T 11: 99,728,667 (GRCm39) C59S possibly damaging Het
Ackr1 T C 1: 173,160,052 (GRCm39) N156D probably benign Het
Ank3 T A 10: 69,786,772 (GRCm39) probably null Het
Arhgef7 T A 8: 11,865,010 (GRCm39) F374Y possibly damaging Het
Atp11b A G 3: 35,882,762 (GRCm39) I606V probably benign Het
Atp6v1h T A 1: 5,187,699 (GRCm39) D222E probably damaging Het
Bco1 G A 8: 117,835,522 (GRCm39) probably null Het
Cacna1g T A 11: 94,306,762 (GRCm39) E1842V probably damaging Het
Calhm3 T A 19: 47,145,986 (GRCm39) Q73L probably damaging Het
Cdc42bpb C T 12: 111,268,601 (GRCm39) E1200K probably damaging Het
Cdr2 A T 7: 120,557,732 (GRCm39) H264Q possibly damaging Het
Cecr2 C T 6: 120,733,702 (GRCm39) S563L probably benign Het
Cfh C T 1: 140,030,563 (GRCm39) V824M probably damaging Het
Ciapin1 A T 8: 95,558,415 (GRCm39) V99E probably damaging Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Cpxm2 TGCAGCAGCAGCAGCAGCAG TGCAGCAGCAGCAGCAG 7: 131,661,581 (GRCm39) probably benign Het
Crim1 T C 17: 78,662,608 (GRCm39) probably null Het
D7Ertd443e A G 7: 133,871,930 (GRCm39) S644P probably damaging Het
Dnlz A T 2: 26,241,483 (GRCm39) C82S probably damaging Het
F11 T C 8: 45,705,184 (GRCm39) D119G possibly damaging Het
Fat3 T C 9: 15,826,558 (GRCm39) T4465A probably benign Het
Fdxacb1 A G 9: 50,683,321 (GRCm39) E428G probably benign Het
Fn1 C T 1: 71,653,102 (GRCm39) G1296R probably null Het
Gm11568 A G 11: 99,749,070 (GRCm39) S92G unknown Het
Gpr158 A T 2: 21,831,674 (GRCm39) M925L probably benign Het
Hivep2 T C 10: 14,008,187 (GRCm39) M1595T probably benign Het
Hoxd1 A G 2: 74,594,501 (GRCm39) K252R probably damaging Het
Ift88 A G 14: 57,726,393 (GRCm39) K684E possibly damaging Het
Iqck G A 7: 118,498,880 (GRCm39) D173N possibly damaging Het
Kcnc1 A G 7: 46,077,226 (GRCm39) N343D probably damaging Het
Kifap3 T A 1: 163,696,327 (GRCm39) V652D possibly damaging Het
Lrig1 A T 6: 94,585,124 (GRCm39) D840E probably damaging Het
Lrrc7 A G 3: 157,892,696 (GRCm39) S318P probably damaging Het
Map1b A C 13: 99,568,592 (GRCm39) D1376E unknown Het
Marchf1 T A 8: 66,840,151 (GRCm39) N311K probably benign Het
Mier2 T C 10: 79,380,368 (GRCm39) I321V probably damaging Het
Mrc1 G A 2: 14,330,183 (GRCm39) R1264Q probably damaging Het
Nrarp T C 2: 25,071,421 (GRCm39) V100A possibly damaging Het
Nt5c1a T C 4: 123,109,873 (GRCm39) F324S probably damaging Het
Odad2 C A 18: 7,223,676 (GRCm39) G456W probably benign Het
Or2t44 T C 11: 58,677,492 (GRCm39) V144A probably benign Het
Or5d41 A G 2: 88,055,167 (GRCm39) F70L probably benign Het
Or5g29 G T 2: 85,420,932 (GRCm39) G16V probably damaging Het
Or6c35 T C 10: 129,169,326 (GRCm39) I192T probably benign Het
Pcdhb4 C T 18: 37,441,979 (GRCm39) L430F probably damaging Het
Ptpn2 T G 18: 67,810,872 (GRCm39) M256L probably damaging Het
Rph3a C T 5: 121,111,367 (GRCm39) R71H probably damaging Het
Rrm2b T A 15: 37,945,295 (GRCm39) D148V possibly damaging Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Slc12a3 T A 8: 95,059,915 (GRCm39) I187N possibly damaging Het
Slc46a1 T G 11: 78,357,249 (GRCm39) S101A probably benign Het
Sned1 T A 1: 93,209,364 (GRCm39) probably null Het
Sult1d1 T G 5: 87,703,887 (GRCm39) N266T probably damaging Het
Tjp2 G T 19: 24,090,171 (GRCm39) H624N probably benign Het
Tmcc3 G A 10: 94,414,777 (GRCm39) V160I probably damaging Het
Tsr1 A T 11: 74,795,653 (GRCm39) probably null Het
Tyrp1 A T 4: 80,755,771 (GRCm39) E180V probably damaging Het
Ubr3 T C 2: 69,846,685 (GRCm39) V1636A probably benign Het
Usp1 T C 4: 98,818,079 (GRCm39) L139P probably damaging Het
Vldlr A T 19: 27,225,415 (GRCm39) T859S probably damaging Het
Vmn1r232 A G 17: 21,134,465 (GRCm39) L45P probably benign Het
Vmn2r94 T A 17: 18,477,593 (GRCm39) M273L probably benign Het
Zc3h6 T C 2: 128,856,629 (GRCm39) Y570H probably benign Het
Zhx2 A G 15: 57,686,565 (GRCm39) S645G probably benign Het
Other mutations in Abca5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Abca5 APN 11 110,200,276 (GRCm39) critical splice acceptor site probably null
IGL00675:Abca5 APN 11 110,195,811 (GRCm39) missense probably damaging 1.00
IGL01512:Abca5 APN 11 110,208,649 (GRCm39) missense probably benign 0.40
IGL01559:Abca5 APN 11 110,163,352 (GRCm39) missense probably benign
IGL01584:Abca5 APN 11 110,195,749 (GRCm39) missense probably damaging 0.98
IGL01604:Abca5 APN 11 110,168,462 (GRCm39) missense possibly damaging 0.47
IGL01828:Abca5 APN 11 110,178,521 (GRCm39) missense probably benign
IGL01880:Abca5 APN 11 110,184,089 (GRCm39) missense probably benign 0.01
IGL02054:Abca5 APN 11 110,182,949 (GRCm39) missense probably damaging 0.99
IGL02074:Abca5 APN 11 110,184,176 (GRCm39) missense probably benign 0.00
IGL02233:Abca5 APN 11 110,165,170 (GRCm39) nonsense probably null
IGL02245:Abca5 APN 11 110,188,995 (GRCm39) nonsense probably null
IGL02317:Abca5 APN 11 110,218,587 (GRCm39) missense probably benign 0.09
IGL02352:Abca5 APN 11 110,166,156 (GRCm39) missense probably benign 0.01
IGL02359:Abca5 APN 11 110,166,156 (GRCm39) missense probably benign 0.01
IGL02390:Abca5 APN 11 110,187,377 (GRCm39) missense probably benign
IGL02600:Abca5 APN 11 110,200,264 (GRCm39) missense probably benign 0.02
IGL02639:Abca5 APN 11 110,178,899 (GRCm39) missense possibly damaging 0.79
IGL03000:Abca5 APN 11 110,208,640 (GRCm39) missense probably benign 0.04
IGL03074:Abca5 APN 11 110,201,101 (GRCm39) missense probably benign 0.01
IGL03078:Abca5 APN 11 110,167,371 (GRCm39) nonsense probably null
IGL03342:Abca5 APN 11 110,178,517 (GRCm39) missense possibly damaging 0.94
IGL03368:Abca5 APN 11 110,204,348 (GRCm39) splice site probably benign
atles UTSW 11 110,190,755 (GRCm39) missense probably damaging 0.99
Demento UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
jones UTSW 11 110,178,884 (GRCm39) splice site probably null
smith UTSW 11 110,192,371 (GRCm39) missense probably benign 0.22
R0106:Abca5 UTSW 11 110,210,651 (GRCm39) missense probably damaging 1.00
R0116:Abca5 UTSW 11 110,167,331 (GRCm39) missense probably damaging 1.00
R0305:Abca5 UTSW 11 110,164,137 (GRCm39) splice site probably benign
R0550:Abca5 UTSW 11 110,184,666 (GRCm39) missense probably damaging 1.00
R0578:Abca5 UTSW 11 110,167,315 (GRCm39) nonsense probably null
R0587:Abca5 UTSW 11 110,202,203 (GRCm39) missense probably benign 0.00
R0610:Abca5 UTSW 11 110,192,353 (GRCm39) missense probably benign 0.00
R0617:Abca5 UTSW 11 110,170,515 (GRCm39) missense probably damaging 0.98
R0667:Abca5 UTSW 11 110,218,637 (GRCm39) missense probably benign 0.00
R0844:Abca5 UTSW 11 110,210,658 (GRCm39) missense probably benign 0.00
R1273:Abca5 UTSW 11 110,217,491 (GRCm39) missense probably benign 0.01
R1463:Abca5 UTSW 11 110,205,384 (GRCm39) missense probably damaging 1.00
R1511:Abca5 UTSW 11 110,190,812 (GRCm39) missense possibly damaging 0.73
R1511:Abca5 UTSW 11 110,190,804 (GRCm39) missense probably damaging 1.00
R1687:Abca5 UTSW 11 110,184,714 (GRCm39) missense probably benign 0.32
R1759:Abca5 UTSW 11 110,184,674 (GRCm39) missense probably benign
R1870:Abca5 UTSW 11 110,220,043 (GRCm39) missense probably benign 0.33
R2006:Abca5 UTSW 11 110,204,275 (GRCm39) missense probably benign
R2039:Abca5 UTSW 11 110,190,755 (GRCm39) missense probably damaging 0.99
R2076:Abca5 UTSW 11 110,178,478 (GRCm39) missense probably benign 0.10
R2136:Abca5 UTSW 11 110,210,658 (GRCm39) missense probably benign 0.00
R2154:Abca5 UTSW 11 110,183,000 (GRCm39) missense probably benign 0.00
R2274:Abca5 UTSW 11 110,166,107 (GRCm39) missense possibly damaging 0.93
R2275:Abca5 UTSW 11 110,166,107 (GRCm39) missense possibly damaging 0.93
R2328:Abca5 UTSW 11 110,167,347 (GRCm39) missense probably damaging 0.99
R3702:Abca5 UTSW 11 110,178,884 (GRCm39) splice site probably null
R3768:Abca5 UTSW 11 110,204,217 (GRCm39) missense probably benign 0.01
R3872:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R3873:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R3874:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R3875:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R4347:Abca5 UTSW 11 110,190,794 (GRCm39) missense probably damaging 1.00
R4429:Abca5 UTSW 11 110,202,236 (GRCm39) missense probably benign 0.00
R4790:Abca5 UTSW 11 110,202,236 (GRCm39) missense possibly damaging 0.63
R4812:Abca5 UTSW 11 110,192,647 (GRCm39) missense probably damaging 1.00
R4833:Abca5 UTSW 11 110,170,142 (GRCm39) missense probably benign 0.00
R4883:Abca5 UTSW 11 110,217,457 (GRCm39) missense probably damaging 1.00
R5000:Abca5 UTSW 11 110,201,050 (GRCm39) missense probably damaging 1.00
R5004:Abca5 UTSW 11 110,170,202 (GRCm39) missense probably damaging 0.99
R5066:Abca5 UTSW 11 110,200,176 (GRCm39) intron probably benign
R5230:Abca5 UTSW 11 110,210,686 (GRCm39) missense probably benign
R5321:Abca5 UTSW 11 110,218,651 (GRCm39) missense probably benign
R5350:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5414:Abca5 UTSW 11 110,205,448 (GRCm39) missense probably damaging 1.00
R5437:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5451:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5453:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5488:Abca5 UTSW 11 110,183,009 (GRCm39) missense probably benign 0.00
R5636:Abca5 UTSW 11 110,192,362 (GRCm39) missense probably benign 0.00
R5805:Abca5 UTSW 11 110,170,216 (GRCm39) missense probably benign 0.06
R5900:Abca5 UTSW 11 110,169,982 (GRCm39) missense possibly damaging 0.92
R6152:Abca5 UTSW 11 110,204,187 (GRCm39) missense probably damaging 1.00
R6167:Abca5 UTSW 11 110,182,931 (GRCm39) missense probably benign 0.10
R6343:Abca5 UTSW 11 110,205,378 (GRCm39) missense probably damaging 1.00
R6425:Abca5 UTSW 11 110,220,058 (GRCm39) missense possibly damaging 0.75
R6493:Abca5 UTSW 11 110,184,704 (GRCm39) missense probably benign 0.00
R6498:Abca5 UTSW 11 110,182,928 (GRCm39) missense possibly damaging 0.70
R6884:Abca5 UTSW 11 110,220,043 (GRCm39) missense probably damaging 0.96
R6912:Abca5 UTSW 11 110,197,106 (GRCm39) missense probably benign 0.35
R7084:Abca5 UTSW 11 110,192,371 (GRCm39) missense probably benign 0.22
R7239:Abca5 UTSW 11 110,217,530 (GRCm39) missense possibly damaging 0.94
R7490:Abca5 UTSW 11 110,168,437 (GRCm39) missense possibly damaging 0.95
R7527:Abca5 UTSW 11 110,218,556 (GRCm39) critical splice donor site probably null
R7702:Abca5 UTSW 11 110,167,278 (GRCm39) critical splice donor site probably null
R7763:Abca5 UTSW 11 110,163,323 (GRCm39) missense possibly damaging 0.85
R8237:Abca5 UTSW 11 110,200,981 (GRCm39) missense probably benign 0.01
R8910:Abca5 UTSW 11 110,189,030 (GRCm39) missense probably damaging 0.96
R9028:Abca5 UTSW 11 110,188,904 (GRCm39) missense probably damaging 1.00
R9124:Abca5 UTSW 11 110,189,005 (GRCm39) missense possibly damaging 0.91
R9151:Abca5 UTSW 11 110,188,908 (GRCm39) missense probably benign
R9187:Abca5 UTSW 11 110,200,961 (GRCm39) critical splice donor site probably null
R9249:Abca5 UTSW 11 110,220,165 (GRCm39) intron probably benign
R9322:Abca5 UTSW 11 110,192,331 (GRCm39) missense probably damaging 0.96
R9391:Abca5 UTSW 11 110,178,542 (GRCm39) missense probably benign
R9435:Abca5 UTSW 11 110,182,911 (GRCm39) critical splice donor site probably null
R9557:Abca5 UTSW 11 110,197,109 (GRCm39) missense probably damaging 1.00
R9660:Abca5 UTSW 11 110,168,248 (GRCm39) missense possibly damaging 0.80
R9788:Abca5 UTSW 11 110,192,253 (GRCm39) missense probably damaging 1.00
RF014:Abca5 UTSW 11 110,170,580 (GRCm39) critical splice acceptor site probably null
Z1177:Abca5 UTSW 11 110,170,154 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- TGAAAGCGTAAATGTTTATGATCTCT -3'
(R):5'- AACAGTCAAACCTTTAGCTCTTTCT -3'

Sequencing Primer
(F):5'- GCAGTGTGGAAAAGAACTCTTTCCC -3'
(R):5'- GGTAAAGGCTACTTTTTGGA -3'
Posted On 2014-10-16