Incidental Mutation 'IGL02084:Abcd2'
ID 283488
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 # IGL02084
Quality Score
Status
Chromosome 15
Chromosomal Location 91030074-91076002 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 91062530 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 null
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
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 110,021,423 (GRCm39) F1096L probably benign Het
Actr10 T C 12: 71,001,423 (GRCm39) I210T probably damaging Het
Apoa5 A T 9: 46,181,950 (GRCm39) D342V probably damaging Het
Bicra G A 7: 15,721,663 (GRCm39) T618I probably benign Het
Birc6 C A 17: 74,915,277 (GRCm39) Q1642K probably benign Het
Cenpn A G 8: 117,667,634 (GRCm39) Y331C probably damaging Het
Clcn7 T A 17: 25,376,899 (GRCm39) I624N probably benign Het
Eddm3b A T 14: 51,354,087 (GRCm39) H25L unknown Het
Fam90a1a A G 8: 22,449,313 (GRCm39) E19G probably benign Het
Fbh1 T C 2: 11,768,938 (GRCm39) D285G probably benign Het
Fbxo41 A T 6: 85,457,747 (GRCm39) probably null Het
Frem3 A G 8: 81,339,072 (GRCm39) D455G possibly damaging Het
Gart T C 16: 91,418,488 (GRCm39) Q86R probably benign Het
Gm45234 T C 6: 124,724,658 (GRCm39) probably benign Het
Gm5431 C T 11: 48,779,912 (GRCm39) D337N probably benign Het
Gm6882 T A 7: 21,161,512 (GRCm39) I119F probably damaging Het
Kcns3 C T 12: 11,142,195 (GRCm39) R168Q probably damaging Het
Klra17 T A 6: 129,808,556 (GRCm39) N226Y probably damaging Het
Macf1 T C 4: 123,326,396 (GRCm39) N2915D probably benign Het
Macf1 T C 4: 123,353,167 (GRCm39) D1504G probably damaging Het
Mgat4d C T 8: 84,095,610 (GRCm39) S295L possibly damaging Het
Mslnl T C 17: 25,965,125 (GRCm39) V497A probably benign Het
Mtor T C 4: 148,555,137 (GRCm39) S920P probably damaging Het
Mynn C A 3: 30,665,764 (GRCm39) H465Q probably damaging Het
Myo16 A G 8: 10,411,088 (GRCm39) E182G probably damaging Het
Ncln T C 10: 81,324,430 (GRCm39) I417V probably benign Het
Nlrp4f A T 13: 65,341,985 (GRCm39) C553* probably null Het
Or5k14 G A 16: 58,693,399 (GRCm39) T38I probably damaging Het
Or8k37 T A 2: 86,469,980 (GRCm39) Q24L possibly damaging Het
Pkhd1 T C 1: 20,447,623 (GRCm39) I2257V probably damaging Het
Ppp4r4 T A 12: 103,566,657 (GRCm39) S35T possibly damaging Het
Qrfprl T C 6: 65,358,594 (GRCm39) V106A probably benign Het
Rnf213 T C 11: 119,336,499 (GRCm39) V3291A probably benign Het
Runx2 C T 17: 45,035,716 (GRCm39) A173T probably damaging Het
Ryr2 A T 13: 11,807,648 (GRCm39) Y833* probably null Het
Setbp1 G A 18: 78,900,625 (GRCm39) A1014V probably damaging Het
Slc25a38 A G 9: 119,949,512 (GRCm39) probably benign Het
Stk4 A G 2: 163,928,527 (GRCm39) T120A probably benign Het
Taf3 A T 2: 10,047,330 (GRCm39) V106D probably benign Het
Uchl5 A G 1: 143,677,912 (GRCm39) I139V possibly damaging Het
Ung A G 5: 114,268,637 (GRCm39) E25G probably benign Het
Wrn A G 8: 33,775,207 (GRCm39) V619A probably benign 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
IGL01733:Abcd2 APN 15 91,075,817 (GRCm39) utr 5 prime probably benign
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 2015-04-16