Incidental Mutation 'R4487:Abcd2'
ID 331668
Institutional Source Beutler Lab
Gene Symbol Abcd2
Ensembl Gene ENSMUSG00000055782
Gene Name ATP-binding cassette, sub-family D member 2
Synonyms ALDR, adrenoleukodystrophy related, ABC39, ALDL1
MMRRC Submission 041743-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R4487 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 91030074-91076002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 91062486 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 484 (V484A)
Ref Sequence ENSEMBL: ENSMUSP00000068940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069511]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000069511
AA Change: V484A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: V484A

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
Meta Mutation Damage Score 0.9010 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 100% (41/41)
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,651,931 (GRCm39) L99P probably damaging Het
Adgrv1 A G 13: 81,588,185 (GRCm39) I4467T probably damaging Het
Ash1l T A 3: 88,892,622 (GRCm39) D1500E possibly damaging Het
C1ql2 A T 1: 120,269,409 (GRCm39) Y188F possibly damaging Het
Cnga2 T A X: 71,049,733 (GRCm39) F133I possibly damaging Het
Crybg2 T C 4: 133,801,512 (GRCm39) S891P probably benign Het
Hao2 T A 3: 98,789,341 (GRCm39) I116F probably damaging Het
Htr1b A T 9: 81,513,592 (GRCm39) D338E probably benign Het
Kalrn C T 16: 33,810,180 (GRCm39) D2525N possibly damaging Het
Kif9 A G 9: 110,323,552 (GRCm39) E225G probably null Het
Krt76 T C 15: 101,798,917 (GRCm39) K256R possibly damaging Het
Mapk4 T C 18: 74,064,046 (GRCm39) D392G probably damaging Het
Mthfr A G 4: 148,135,884 (GRCm39) K278R probably benign Het
Mup4 T A 4: 59,960,547 (GRCm39) E18V probably damaging Het
Nepro A G 16: 44,556,089 (GRCm39) K416E probably damaging Het
Ngf G A 3: 102,428,015 (GRCm39) D255N probably damaging Het
Nmu A G 5: 76,491,909 (GRCm39) probably null Het
Nt5m A G 11: 59,739,173 (GRCm39) Y73C probably damaging Het
Oaz3 A T 3: 94,342,437 (GRCm39) probably null Het
Pgap1 A G 1: 54,567,751 (GRCm39) S365P probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Pus7l A G 15: 94,429,498 (GRCm39) I440T possibly damaging Het
Raph1 C T 1: 60,542,028 (GRCm39) S362N possibly damaging Het
Rftn2 A G 1: 55,241,311 (GRCm39) Y330H possibly damaging Het
Rhot2 G A 17: 26,058,467 (GRCm39) H580Y probably benign Het
Rnase2a A T 14: 51,493,302 (GRCm39) M21K unknown Het
Rusf1 T C 7: 127,887,530 (GRCm39) D24G probably damaging Het
Smchd1 T C 17: 71,714,230 (GRCm39) T878A probably benign Het
Snx1 A T 9: 65,996,877 (GRCm39) V459E possibly damaging Het
Suz12 A G 11: 79,922,939 (GRCm39) T694A probably benign Het
Tg G A 15: 66,543,245 (GRCm39) C53Y probably damaging Het
Tor1aip1 G T 1: 155,882,870 (GRCm39) T326K probably damaging Het
Vmn1r61 C A 7: 5,613,924 (GRCm39) C130F possibly damaging Het
Xlr5b T C X: 72,201,504 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CCACTGTGCATACCTTTCGG -3'
(R):5'- TCTCTTGTAGGAAGTAAGGGAACAG -3'

Sequencing Primer
(F):5'- ACTGTGCATACCTTTCGGATTTC -3'
(R):5'- AGGGAACAGAATAACTCTAAACAATG -3'
Posted On 2015-07-21