Incidental Mutation 'IGL02408:Abcd2'
ID292203
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abcd2
Ensembl Gene ENSMUSG00000055782
Gene NameATP-binding cassette, sub-family D (ALD), member 2
SynonymsABC39, adrenoleukodystrophy related, ALDL1, ALDR
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.127) question?
Stock #IGL02408
Quality Score
Status
Chromosome15
Chromosomal Location91145871-91191799 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 91178241 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 498 (L498P)
Ref Sequence ENSEMBL: ENSMUSP00000068940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069511]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069511
AA Change: L498P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: L498P

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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m A G 6: 121,644,171 Y278C probably damaging Het
Acot11 A G 4: 106,758,381 F271S probably damaging Het
Acr T A 15: 89,570,014 Y185N probably damaging Het
Adcy10 C T 1: 165,538,380 R489C probably damaging Het
Arsb A G 13: 93,794,162 T213A probably benign Het
Atg2a T A 19: 6,241,828 C11* probably null Het
B3galt6 A T 4: 155,991,695 Y308N probably damaging Het
Cd226 A G 18: 89,207,327 N116S probably benign Het
Crat T A 2: 30,407,134 D269V probably damaging Het
Crim1 T A 17: 78,315,654 I427N possibly damaging Het
Dock3 T C 9: 106,913,099 probably benign Het
Dsg1c T A 18: 20,274,719 V374E probably damaging Het
Dtl A G 1: 191,541,240 S519P probably benign Het
Fastkd1 C T 2: 69,702,601 R474H probably benign Het
Fbxo10 T C 4: 45,058,361 T459A possibly damaging Het
Frmd4b A G 6: 97,295,809 L828P probably damaging Het
Gc T C 5: 89,445,396 S55G probably benign Het
Gm6455 T G 5: 10,867,290 noncoding transcript Het
Gnai2 T C 9: 107,616,194 T280A probably benign Het
Hmgn2 A G 4: 133,965,949 probably null Het
Jmjd1c G T 10: 67,226,382 A1505S probably benign Het
Lrriq1 T C 10: 103,146,281 K1393E probably benign Het
Mcam A G 9: 44,140,250 N469D probably benign Het
Mrpl47 A G 3: 32,736,640 probably null Het
Mslnl C T 17: 25,747,998 A659V possibly damaging Het
Nlrp1a A G 11: 71,122,630 V598A probably benign Het
Npff A T 15: 102,524,565 L15Q probably null Het
Obsl1 G T 1: 75,505,246 Q327K probably damaging Het
Olfr46 T C 7: 140,610,931 V255A probably damaging Het
Olfr48 T A 2: 89,844,971 M1L probably benign Het
Olfr58 A T 9: 19,783,415 Y94F probably benign Het
Olfr591 T C 7: 103,173,451 Y62C probably damaging Het
Olfr914 G A 9: 38,607,121 G219S possibly damaging Het
Pdzd2 T A 15: 12,375,765 H1428L probably benign Het
Phldb1 T C 9: 44,715,906 E414G possibly damaging Het
Reln T C 5: 21,901,619 D3251G probably benign Het
Secisbp2l G T 2: 125,740,869 S889* probably null Het
Setx T A 2: 29,133,930 C133S probably damaging Het
Slc22a29 A C 19: 8,207,285 S214A probably benign Het
Slc30a5 A C 13: 100,813,724 L285R probably damaging Het
Taar7a T G 10: 23,992,602 I294L probably benign Het
Tfap2b T A 1: 19,234,261 F414I probably damaging Het
Trpc4ap A T 2: 155,671,069 Y129N possibly damaging Het
Vmn2r94 T C 17: 18,253,261 E501G probably benign Het
Xpot T C 10: 121,603,165 H709R probably damaging Het
Zfhx3 T A 8: 108,955,372 probably benign Het
Zscan22 T G 7: 12,906,499 H223Q probably benign Het
Other mutations in Abcd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01343:Abcd2 APN 15 91149213 splice site probably benign
IGL01515:Abcd2 APN 15 91163086 missense probably damaging 1.00
IGL01733:Abcd2 APN 15 91191614 utr 5 prime probably benign
IGL02084:Abcd2 APN 15 91178327 critical splice acceptor site probably null
IGL02568:Abcd2 APN 15 91148981 utr 3 prime probably benign
IGL02942:Abcd2 APN 15 91149175 missense probably damaging 0.99
IGL03281:Abcd2 APN 15 91151673 missense probably damaging 1.00
R0463:Abcd2 UTSW 15 91159124 missense probably benign 0.01
R1226:Abcd2 UTSW 15 91191043 missense probably benign
R1510:Abcd2 UTSW 15 91188978 missense probably damaging 1.00
R1581:Abcd2 UTSW 15 91179144 missense probably benign
R1802:Abcd2 UTSW 15 91163102 missense probably benign
R1918:Abcd2 UTSW 15 91191481 missense probably benign
R2184:Abcd2 UTSW 15 91191439 missense probably benign
R3820:Abcd2 UTSW 15 91174705 missense probably damaging 0.99
R3821:Abcd2 UTSW 15 91174705 missense probably damaging 0.99
R4486:Abcd2 UTSW 15 91178283 missense probably damaging 0.99
R4487:Abcd2 UTSW 15 91178283 missense probably damaging 0.99
R4489:Abcd2 UTSW 15 91178283 missense probably damaging 0.99
R4706:Abcd2 UTSW 15 91159182 missense probably benign 0.03
R4707:Abcd2 UTSW 15 91159182 missense probably benign 0.03
R4727:Abcd2 UTSW 15 91178286 missense probably benign 0.33
R4872:Abcd2 UTSW 15 91191311 missense probably benign
R4971:Abcd2 UTSW 15 91163110 missense probably benign 0.06
R5492:Abcd2 UTSW 15 91188973 missense probably benign
R6049:Abcd2 UTSW 15 91178236 missense probably benign 0.00
R6143:Abcd2 UTSW 15 91190947 missense possibly damaging 0.95
R6177:Abcd2 UTSW 15 91190693 missense probably damaging 0.99
R6566:Abcd2 UTSW 15 91191118 missense probably damaging 1.00
R7108:Abcd2 UTSW 15 91191274 missense probably benign 0.43
R7208:Abcd2 UTSW 15 91190682 nonsense probably null
R7212:Abcd2 UTSW 15 91159123 missense possibly damaging 0.84
R7497:Abcd2 UTSW 15 91191176 missense probably benign
R7505:Abcd2 UTSW 15 91149057 missense possibly damaging 0.60
R7732:Abcd2 UTSW 15 91191248 missense possibly damaging 0.64
Posted On2015-04-16