Incidental Mutation 'R9557:Abca5'
ID 720817
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
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R9557 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 110160195-110228542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110197109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 523 (L523P)
Ref Sequence ENSEMBL: ENSMUSP00000047927 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043961] [ENSMUST00000124714]
AlphaFold Q8K448
Predicted Effect probably damaging
Transcript: ENSMUST00000043961
AA Change: L523P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: L523P

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
Predicted Effect probably damaging
Transcript: ENSMUST00000124714
AA Change: L523P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: L523P

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 30 416 9.5e-32 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
transmembrane domain 1019 1041 N/A INTRINSIC
transmembrane domain 1074 1096 N/A INTRINSIC
transmembrane domain 1103 1125 N/A INTRINSIC
transmembrane domain 1136 1158 N/A INTRINSIC
transmembrane domain 1165 1187 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,659,160 (GRCm39) N204K possibly damaging Het
Aadacl2fm3 T G 3: 59,784,654 (GRCm39) F376V possibly damaging Het
Adcy5 T C 16: 35,091,327 (GRCm39) V590A probably damaging Het
Alg1 A T 16: 5,057,820 (GRCm39) D238V probably damaging Het
Ankrd55 C A 13: 112,485,347 (GRCm39) P187H probably damaging Het
Aox4 G T 1: 58,285,095 (GRCm39) V616F probably benign Het
Apc C A 18: 34,451,412 (GRCm39) H2769Q probably damaging Het
Bach1 C G 16: 87,516,603 (GRCm39) S381R probably benign Het
C2cd2l G A 9: 44,231,127 (GRCm39) A20V probably benign Het
Catsperg1 T C 7: 28,904,223 (GRCm39) D266G probably damaging Het
Ces4a A G 8: 105,869,527 (GRCm39) S233G possibly damaging Het
Comp T A 8: 70,829,854 (GRCm39) D359E probably benign Het
Cyp2b13 A C 7: 25,780,123 (GRCm39) N91T probably benign Het
Dhx9 A C 1: 153,333,292 (GRCm39) M1151R probably benign Het
Dync2i2 G A 2: 29,922,534 (GRCm39) A366V possibly damaging Het
E2f5 G T 3: 14,653,311 (GRCm39) L142F probably benign Het
Egflam G T 15: 7,241,656 (GRCm39) N917K probably damaging Het
Ercc6l2 C T 13: 63,989,936 (GRCm39) R254C probably damaging Het
Erh G A 12: 80,689,571 (GRCm39) P18S probably benign Het
Fam110b T C 4: 5,799,064 (GRCm39) S161P probably damaging Het
Fam210a TAAAATGTTCCAAA TAAA 18: 68,408,848 (GRCm39) probably null Het
Fbn1 T C 2: 125,180,458 (GRCm39) I1775V probably damaging Het
Fry C A 5: 150,389,781 (GRCm39) Q137K Het
Gm4787 A T 12: 81,426,074 (GRCm39) L28* probably null Het
Gpr179 A G 11: 97,235,029 (GRCm39) F434L probably damaging Het
Grik2 T C 10: 49,404,105 (GRCm39) Y252C probably damaging Het
H1f0 C T 15: 78,912,947 (GRCm39) P9L probably damaging Het
Hectd4 A G 5: 121,459,617 (GRCm39) T829A possibly damaging Het
Ing4 A G 6: 125,025,354 (GRCm39) E245G probably benign Het
Lgr4 C T 2: 109,827,084 (GRCm39) A196V probably damaging Het
Lrrc51 T A 7: 101,562,329 (GRCm39) K176N probably benign Het
Lrrc9 T A 12: 72,532,981 (GRCm39) M950K probably benign Het
Lrrd1 A T 5: 3,901,432 (GRCm39) D579V probably damaging Het
Magi3 C T 3: 103,922,473 (GRCm39) A1415T probably benign Het
Magi3 A C 3: 103,924,933 (GRCm39) I1072S probably damaging Het
Mast1 G A 8: 85,657,474 (GRCm39) T101I probably damaging Het
Mccc1 A T 3: 36,049,976 (GRCm39) V72E probably damaging Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Megf8 A T 7: 25,058,511 (GRCm39) Q2169L possibly damaging Het
Mllt6 A G 11: 97,564,310 (GRCm39) D342G probably benign Het
Mycbp2 T A 14: 103,372,697 (GRCm39) T4050S probably benign Het
Nbeal1 A G 1: 60,274,509 (GRCm39) T307A probably benign Het
Or11g27 A G 14: 50,771,552 (GRCm39) T228A probably benign Het
Or52d3 T C 7: 104,229,768 (GRCm39) I305T probably damaging Het
Plat T C 8: 23,262,669 (GRCm39) F125L probably benign Het
Ppm1b T A 17: 85,301,501 (GRCm39) M127K probably benign Het
Ppp4r1 C A 17: 66,110,258 (GRCm39) D52E probably benign Het
Rasgrp3 T G 17: 75,807,139 (GRCm39) I201S probably damaging Het
Rfpl4b T A 10: 38,696,870 (GRCm39) M244L probably benign Het
Rhbdl3 A T 11: 80,244,277 (GRCm39) H328L probably benign Het
Rsad2 T A 12: 26,495,521 (GRCm39) I325F probably damaging Het
Shank2 T C 7: 143,963,847 (GRCm39) V485A probably benign Het
Slc6a5 A G 7: 49,561,474 (GRCm39) N2S probably benign Het
Sox4 G T 13: 29,136,913 (GRCm39) A31E probably damaging Het
Suv39h2 A T 2: 3,475,451 (GRCm39) C2S Het
Tet2 A G 3: 133,191,566 (GRCm39) I956T probably benign Het
Topaz1 A G 9: 122,578,530 (GRCm39) D480G possibly damaging Het
Ttn C T 2: 76,715,357 (GRCm39) E7912K unknown Het
Ugt1a6b G T 1: 88,034,820 (GRCm39) G53* probably null Het
Vmn1r173 T C 7: 23,402,209 (GRCm39) V148A probably damaging Het
Vnn1 G A 10: 23,776,723 (GRCm39) C358Y probably damaging Het
Wdr89 A G 12: 75,679,666 (GRCm39) V196A probably damaging Het
Wfdc6a T A 2: 164,425,758 (GRCm39) D71V possibly damaging Het
Zc3h3 T C 15: 75,711,145 (GRCm39) K439E probably damaging Het
Zfp367 T C 13: 64,300,586 (GRCm39) H73R probably damaging Het
Zfp955a G A 17: 33,461,107 (GRCm39) R342* probably null 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
R2273:Abca5 UTSW 11 110,166,107 (GRCm39) missense possibly damaging 0.93
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
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'- TTCCTCACAGATAAACAGCTATTCC -3'
(R):5'- TCACTGACTGTGTCTAGACTACC -3'

Sequencing Primer
(F):5'- GCTATTCCAAATCACCCACTTAAATC -3'
(R):5'- TCACTTTAAGACCAGGCTGG -3'
Posted On 2022-08-09