Incidental Mutation 'R2862:Abcd1'
ID 253003
Institutional Source Beutler Lab
Gene Symbol Abcd1
Ensembl Gene ENSMUSG00000031378
Gene Name ATP-binding cassette, sub-family D member 1
Synonyms ALDP, Ald, Aldgh
MMRRC Submission 040452-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2862 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 72760203-72782140 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 72781064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 713 (L713H)
Ref Sequence ENSEMBL: ENSMUSP00000002084 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002084]
AlphaFold P48410
Predicted Effect probably damaging
Transcript: ENSMUST00000002084
AA Change: L713H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002084
Gene: ENSMUSG00000031378
AA Change: L713H

DomainStartEndE-ValueType
Pfam:ABC_membrane_2 65 352 9.4e-104 PFAM
low complexity region 363 377 N/A INTRINSIC
AAA 499 703 5.67e-7 SMART
Meta Mutation Damage Score 0.6590 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.0%
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. This peroxisomal membrane protein is likely involved in the peroxisomal transport or catabolism of very long chain fatty acids. Defects in the human gene have been identified as the underlying cause of adrenoleukodystrophy, an X-chromosome recessively inherited demyelinating disorder of the nervous system. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous/hemizygous for disruptions in this gene develop a late onset of neurodegenerative disease (no neurological symptoms up to 6 months of age), with an accumulation of very long chain fatty acids. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,259,057 (GRCm39) S2928G probably damaging Het
Actg1 T C 11: 120,237,627 (GRCm39) I52V probably benign Het
Ahi1 T A 10: 20,857,307 (GRCm39) V634E probably damaging Het
Ang G T 14: 51,339,275 (GRCm39) D139Y probably damaging Het
Apoe T C 7: 19,431,479 (GRCm39) Y46C probably damaging Het
Aqr A T 2: 113,967,398 (GRCm39) V539D probably damaging Het
Btg3 A G 16: 78,161,868 (GRCm39) V114A probably damaging Het
Cap1 A T 4: 122,758,518 (GRCm39) S221T probably benign Het
Ccdc121 G A 5: 31,643,255 (GRCm39) probably benign Het
Cdca2 T C 14: 67,935,539 (GRCm39) E392G probably damaging Het
Col1a2 G A 6: 4,518,822 (GRCm39) probably benign Het
Col22a1 A G 15: 71,687,792 (GRCm39) probably null Het
Cyp2c38 G A 19: 39,449,138 (GRCm39) R72W probably benign Het
Dnah1 C T 14: 31,006,719 (GRCm39) G2199S probably benign Het
Dnhd1 A G 7: 105,361,766 (GRCm39) E3608G probably benign Het
Ears2 A T 7: 121,662,163 (GRCm39) L95Q probably damaging Het
F5 A T 1: 164,012,533 (GRCm39) K482N probably damaging Het
Gata5 C T 2: 179,976,129 (GRCm39) G12S possibly damaging Het
Gm11938 C A 11: 99,493,972 (GRCm39) R41L probably damaging Het
Grap2 A T 15: 80,532,165 (GRCm39) Q260L probably damaging Het
Greb1 A G 12: 16,761,746 (GRCm39) S545P probably benign Het
Iglc1 T C 16: 18,880,660 (GRCm39) probably benign Het
Il18r1 T C 1: 40,537,717 (GRCm39) V494A possibly damaging Het
Kdf1 G A 4: 133,255,852 (GRCm39) E190K probably damaging Het
Lama2 G A 10: 27,298,608 (GRCm39) Q163* probably null Het
Lama3 G T 18: 12,586,807 (GRCm39) L723F probably damaging Het
Lamp5 A T 2: 135,900,866 (GRCm39) H22L probably benign Het
Maged1 G A X: 93,582,530 (GRCm39) P366S probably damaging Het
Med14 A G X: 12,585,936 (GRCm39) I521T probably benign Het
Mia2 A G 12: 59,201,196 (GRCm39) K841E probably damaging Het
Mrgbp G A 2: 180,225,203 (GRCm39) R53Q possibly damaging Het
Mrps18b G A 17: 36,221,746 (GRCm39) S101L probably benign Het
Nmnat2 G A 1: 152,988,171 (GRCm39) V267I probably benign Het
Noc2l A G 4: 156,321,907 (GRCm39) D102G probably benign Het
Ntn1 T C 11: 68,276,690 (GRCm39) E86G probably benign Het
Opn4 A G 14: 34,315,785 (GRCm39) probably null Het
Or2d2b T A 7: 106,705,675 (GRCm39) H131L probably benign Het
Or4c109 A T 2: 88,817,664 (GRCm39) I294K probably benign Het
Or52n1 A G 7: 104,383,425 (GRCm39) F49L probably benign Het
Or6k6 A G 1: 173,945,298 (GRCm39) Y95H probably damaging Het
Pate3 T A 9: 35,559,415 (GRCm39) M1L possibly damaging Het
Pex2 A G 3: 5,626,240 (GRCm39) Y190H probably damaging Het
Pkhd1l1 A C 15: 44,404,267 (GRCm39) T2299P probably damaging Het
Ppp6r3 A C 19: 3,571,782 (GRCm39) S122R possibly damaging Het
Pwwp3b G A X: 138,137,429 (GRCm39) G656S possibly damaging Het
Rnf113a1 A G X: 36,455,736 (GRCm39) E231G probably damaging Het
Rnf41 T C 10: 128,274,023 (GRCm39) L225P possibly damaging Het
Rreb1 G C 13: 38,116,429 (GRCm39) A1263P probably benign Het
Rxfp1 A G 3: 79,589,778 (GRCm39) V121A possibly damaging Het
Slc35e4 A T 11: 3,862,796 (GRCm39) V131D probably damaging Het
Smyd4 T A 11: 75,280,962 (GRCm39) M145K probably benign Het
Snx13 T A 12: 35,188,116 (GRCm39) I798N probably benign Het
Srgap3 A T 6: 112,699,933 (GRCm39) F1015Y probably damaging Het
Synj1 T C 16: 90,766,217 (GRCm39) Y567C probably damaging Het
Tbc1d8 G A 1: 39,441,777 (GRCm39) Q272* probably null Het
Tinf2 T C 14: 55,918,088 (GRCm39) D127G probably damaging Het
Ube2v1 G A 2: 167,459,885 (GRCm39) P39L probably damaging Het
Vegfd A G X: 163,168,879 (GRCm39) E57G probably damaging Het
Vmn2r72 A T 7: 85,400,044 (GRCm39) I335N probably damaging Het
Zc3h6 A G 2: 128,857,380 (GRCm39) H633R probably benign Het
Other mutations in Abcd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Abcd1 APN X 72,761,154 (GRCm39) missense probably damaging 1.00
IGL02968:Abcd1 APN X 72,760,664 (GRCm39) missense possibly damaging 0.68
R0712:Abcd1 UTSW X 72,774,471 (GRCm39) missense possibly damaging 0.91
R2860:Abcd1 UTSW X 72,781,064 (GRCm39) missense probably damaging 1.00
R2861:Abcd1 UTSW X 72,781,064 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTATGGTAGGTGCTCTTG -3'
(R):5'- CAGGTAATTGGCTAGGAGGC -3'

Sequencing Primer
(F):5'- TGAGGCTGCCACCTGAAGTG -3'
(R):5'- AATTGGCTAGGAGGCTTGGGAG -3'
Posted On 2014-12-04