Incidental Mutation 'IGL01733:Abcd2'
ID 105596
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcd2
Ensembl Gene ENSMUSG00000055782
Gene Name ATP-binding cassette, sub-family D member 2
Synonyms ALDR, adrenoleukodystrophy related, ABC39, ALDL1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # IGL01733
Quality Score
Status
Chromosome 15
Chromosomal Location 91030074-91076002 bp(-) (GRCm39)
Type of Mutation utr 5 prime
DNA Base Change (assembly) C to T at 91075817 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069511]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069511
SMART Domains Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782

DomainStartEndE-ValueType
low complexity region 19 32 N/A INTRINSIC
Pfam:ABC_membrane_2 78 365 1.9e-110 PFAM
AAA 504 690 2.79e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230461
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown; however this protein is speculated to function as a dimerization partner of Abcd1 and/or other peroxisomal ABC transporters. Mutations in the human gene have been observed in patients with adrenoleukodystrophy, a severe demyelinating disease. This gene has been identified as a candidate for a modifier gene, accounting for the extreme variation among adrenoleukodystrophy phenotypes. This gene is also a candidate for a complement group of Zellweger syndrome, a genetically heterogeneous disorder of peroxisomal biogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a disruption in this gene exhibit a late-onset cerebellar and sensory ataxia, loss of Purkinje cells, dorsal root ganglia cell degeneration, axonal degeneration in the spinal cord, and an accumulation of very long chain fatty acids. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco1 T G 4: 40,175,738 (GRCm39) probably benign Het
Brinp3 T C 1: 146,390,541 (GRCm39) V29A probably benign Het
Brsk1 T C 7: 4,709,071 (GRCm39) Y361H probably damaging Het
Ccdc178 G T 18: 22,157,869 (GRCm39) probably benign Het
Ces1f A G 8: 93,996,642 (GRCm39) I217T probably damaging Het
Col6a6 T A 9: 105,586,454 (GRCm39) T1856S possibly damaging Het
Cuedc2 C A 19: 46,321,112 (GRCm39) V7F probably damaging Het
Cyp2d34 C T 15: 82,502,861 (GRCm39) V122M possibly damaging Het
Ddx60 T C 8: 62,436,899 (GRCm39) S949P probably damaging Het
Dlg5 G A 14: 24,220,517 (GRCm39) R554W probably damaging Het
Fig4 A T 10: 41,153,389 (GRCm39) N137K possibly damaging Het
Gpr155 C T 2: 73,183,956 (GRCm39) probably null Het
Grk6 A C 13: 55,599,204 (GRCm39) N168T possibly damaging Het
Hfe T G 13: 23,890,848 (GRCm39) K97T possibly damaging Het
Hsd3b2 C T 3: 98,623,801 (GRCm39) E26K probably damaging Het
Impg1 A G 9: 80,249,206 (GRCm39) S666P probably damaging Het
Itpkb T G 1: 180,160,734 (GRCm39) S287A possibly damaging Het
Kcnh5 T C 12: 75,011,966 (GRCm39) D651G probably benign Het
Lemd3 C T 10: 120,769,568 (GRCm39) W588* probably null Het
Lepr A G 4: 101,622,279 (GRCm39) T404A probably benign Het
Metap1d A G 2: 71,341,777 (GRCm39) I124V probably damaging Het
Mrpl33 T C 5: 31,779,733 (GRCm39) V54A probably benign Het
Mybl1 A T 1: 9,755,935 (GRCm39) S205T possibly damaging Het
Mybpc2 T A 7: 44,155,622 (GRCm39) D877V probably benign Het
Nxph2 T C 2: 23,290,137 (GRCm39) V163A probably benign Het
Pakap G T 4: 57,856,488 (GRCm39) V606L probably benign Het
Pex16 C T 2: 92,209,173 (GRCm39) P192S probably damaging Het
Ptprq C A 10: 107,498,460 (GRCm39) M872I probably benign Het
Ripor1 C T 8: 106,342,378 (GRCm39) R150W possibly damaging Het
Spns2 A T 11: 72,347,336 (GRCm39) V423E possibly damaging Het
St6galnac2 C T 11: 116,575,945 (GRCm39) D169N probably damaging Het
Stoml3 A G 3: 53,405,548 (GRCm39) I50V probably benign Het
Taar8c A G 10: 23,977,155 (GRCm39) I219T possibly damaging Het
Ubap2 A C 4: 41,195,862 (GRCm39) probably benign Het
Zfat T C 15: 68,052,579 (GRCm39) D398G probably damaging Het
Other mutations in Abcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Abcd2 APN 15 91,033,416 (GRCm39) splice site probably benign
IGL01515:Abcd2 APN 15 91,047,289 (GRCm39) missense probably damaging 1.00
IGL02084:Abcd2 APN 15 91,062,530 (GRCm39) critical splice acceptor site probably null
IGL02408:Abcd2 APN 15 91,062,444 (GRCm39) missense possibly damaging 0.95
IGL02568:Abcd2 APN 15 91,033,184 (GRCm39) utr 3 prime probably benign
IGL02942:Abcd2 APN 15 91,033,378 (GRCm39) missense probably damaging 0.99
IGL03281:Abcd2 APN 15 91,035,876 (GRCm39) missense probably damaging 1.00
R0463:Abcd2 UTSW 15 91,043,327 (GRCm39) missense probably benign 0.01
R1226:Abcd2 UTSW 15 91,075,246 (GRCm39) missense probably benign
R1510:Abcd2 UTSW 15 91,073,181 (GRCm39) missense probably damaging 1.00
R1581:Abcd2 UTSW 15 91,063,347 (GRCm39) missense probably benign
R1802:Abcd2 UTSW 15 91,047,305 (GRCm39) missense probably benign
R1918:Abcd2 UTSW 15 91,075,684 (GRCm39) missense probably benign
R2184:Abcd2 UTSW 15 91,075,642 (GRCm39) missense probably benign
R3820:Abcd2 UTSW 15 91,058,908 (GRCm39) missense probably damaging 0.99
R3821:Abcd2 UTSW 15 91,058,908 (GRCm39) missense probably damaging 0.99
R4486:Abcd2 UTSW 15 91,062,486 (GRCm39) missense probably damaging 0.99
R4487:Abcd2 UTSW 15 91,062,486 (GRCm39) missense probably damaging 0.99
R4489:Abcd2 UTSW 15 91,062,486 (GRCm39) missense probably damaging 0.99
R4706:Abcd2 UTSW 15 91,043,385 (GRCm39) missense probably benign 0.03
R4707:Abcd2 UTSW 15 91,043,385 (GRCm39) missense probably benign 0.03
R4727:Abcd2 UTSW 15 91,062,489 (GRCm39) missense probably benign 0.33
R4872:Abcd2 UTSW 15 91,075,514 (GRCm39) missense probably benign
R4971:Abcd2 UTSW 15 91,047,313 (GRCm39) missense probably benign 0.06
R5492:Abcd2 UTSW 15 91,073,176 (GRCm39) missense probably benign
R6049:Abcd2 UTSW 15 91,062,439 (GRCm39) missense probably benign 0.00
R6143:Abcd2 UTSW 15 91,075,150 (GRCm39) missense possibly damaging 0.95
R6177:Abcd2 UTSW 15 91,074,896 (GRCm39) missense probably damaging 0.99
R6566:Abcd2 UTSW 15 91,075,321 (GRCm39) missense probably damaging 1.00
R7108:Abcd2 UTSW 15 91,075,477 (GRCm39) missense probably benign 0.43
R7208:Abcd2 UTSW 15 91,074,885 (GRCm39) nonsense probably null
R7212:Abcd2 UTSW 15 91,043,326 (GRCm39) missense possibly damaging 0.84
R7497:Abcd2 UTSW 15 91,075,379 (GRCm39) missense probably benign
R7505:Abcd2 UTSW 15 91,033,260 (GRCm39) missense possibly damaging 0.60
R7732:Abcd2 UTSW 15 91,075,451 (GRCm39) missense possibly damaging 0.64
R8119:Abcd2 UTSW 15 91,033,197 (GRCm39) missense probably benign 0.00
R8203:Abcd2 UTSW 15 91,075,369 (GRCm39) missense probably benign
R8444:Abcd2 UTSW 15 91,058,839 (GRCm39) missense probably benign 0.00
R8859:Abcd2 UTSW 15 91,073,149 (GRCm39) missense probably damaging 1.00
R9004:Abcd2 UTSW 15 91,075,051 (GRCm39) missense probably benign
R9081:Abcd2 UTSW 15 91,075,772 (GRCm39) missense probably damaging 1.00
R9162:Abcd2 UTSW 15 91,058,926 (GRCm39) missense probably benign 0.09
R9176:Abcd2 UTSW 15 91,075,623 (GRCm39) missense probably benign
R9257:Abcd2 UTSW 15 91,075,315 (GRCm39) missense possibly damaging 0.63
R9267:Abcd2 UTSW 15 91,063,423 (GRCm39) missense possibly damaging 0.92
R9273:Abcd2 UTSW 15 91,033,232 (GRCm39) missense probably benign 0.15
R9286:Abcd2 UTSW 15 91,058,827 (GRCm39) missense possibly damaging 0.93
R9467:Abcd2 UTSW 15 91,075,825 (GRCm39) start gained probably benign
Posted On 2014-01-21