Incidental Mutation 'R7505:Abcd2'
ID 581760
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 045578-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R7505 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 91030074-91076002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 91033260 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Tyrosine at position 719 (N719Y)
Ref Sequence ENSEMBL: ENSMUSP00000068940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069511]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000069511
AA Change: N719Y

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: N719Y

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 T C 11: 50,687,347 (GRCm39) I1058T probably benign Het
Alb T A 5: 90,617,368 (GRCm39) Y356N probably damaging Het
Ankrd52 A G 10: 128,225,924 (GRCm39) N971D probably damaging Het
Atp6v1c2 A G 12: 17,347,724 (GRCm39) probably null Het
Atp6v1h A T 1: 5,194,561 (GRCm39) I247L probably benign Het
Cacna1s C T 1: 136,013,187 (GRCm39) R593* probably null Het
Cacna2d3 C T 14: 28,767,501 (GRCm39) probably null Het
Cdh15 G A 8: 123,575,231 (GRCm39) G2D probably benign Het
Cebpe G T 14: 54,948,113 (GRCm39) N243K probably damaging Het
Celf2 A T 2: 6,629,511 (GRCm39) M136K probably damaging Het
Cep290 A G 10: 100,352,127 (GRCm39) I778V probably benign Het
Col22a1 A T 15: 71,671,248 (GRCm39) C1592* probably null Het
Cpne2 A T 8: 95,275,094 (GRCm39) N34I possibly damaging Het
Cps1 A G 1: 67,219,240 (GRCm39) N860S probably benign Het
Disp2 T G 2: 118,621,569 (GRCm39) L767R probably damaging Het
Eif1ad19 A T 12: 87,740,270 (GRCm39) N96K probably benign Het
Evpl A G 11: 116,117,813 (GRCm39) probably null Het
F7 A T 8: 13,078,745 (GRCm39) N59Y possibly damaging Het
Fam98a A T 17: 75,845,233 (GRCm39) H504Q unknown Het
Fbxo4 G A 15: 4,000,903 (GRCm39) R270C probably benign Het
Fcgbp T C 7: 27,789,099 (GRCm39) V555A probably damaging Het
Fgf4 T C 7: 144,415,498 (GRCm39) V86A possibly damaging Het
Fpgt G T 3: 154,792,413 (GRCm39) A538D possibly damaging Het
Gars1 A G 6: 55,029,162 (GRCm39) T181A probably benign Het
Gask1a G C 9: 121,805,483 (GRCm39) G425R probably benign Het
Gbx2 A G 1: 89,856,455 (GRCm39) S312P probably benign Het
Gm29735 C T 7: 141,710,327 (GRCm39) C175Y unknown Het
Gm7995 A G 14: 42,132,314 (GRCm39) T49A Het
Hnrnpk A G 13: 58,547,783 (GRCm39) M27T probably benign Het
Idh3b A G 2: 130,126,147 (GRCm39) S20P probably benign Het
Idh3b G C 2: 130,126,153 (GRCm39) R18G probably benign Het
Ighg2b T A 12: 113,268,600 (GRCm39) T354S Het
Lrfn2 T A 17: 49,403,479 (GRCm39) M534K probably benign Het
Mcpt8 G A 14: 56,320,548 (GRCm39) A127V probably benign Het
Msi2 A T 11: 88,304,743 (GRCm39) N176K possibly damaging Het
Mtr G T 13: 12,236,362 (GRCm39) D621E probably benign Het
Nlrp5 T A 7: 23,106,925 (GRCm39) I63N probably benign Het
Nol6 T C 4: 41,120,352 (GRCm39) D455G probably damaging Het
Nrde2 A T 12: 100,098,757 (GRCm39) S637T probably benign Het
Ntn4 G T 10: 93,543,146 (GRCm39) G291W probably damaging Het
Or13a28 C A 7: 140,217,965 (GRCm39) T117K probably damaging Het
Or4d10 T A 19: 12,051,969 (GRCm39) E9V possibly damaging Het
Otof T A 5: 30,528,364 (GRCm39) T1865S probably benign Het
Plec A T 15: 76,065,394 (GRCm39) S1559T unknown Het
Plekhm1 C T 11: 103,270,855 (GRCm39) probably null Het
Plin4 T A 17: 56,416,357 (GRCm39) Q49L possibly damaging Het
Polrmt A G 10: 79,573,717 (GRCm39) F995L probably benign Het
Polrmt A G 10: 79,579,010 (GRCm39) probably null Het
Pramel16 A G 4: 143,676,273 (GRCm39) I277T possibly damaging Het
Pramel28 C T 4: 143,691,556 (GRCm39) C389Y probably benign Het
Rims1 T C 1: 22,573,077 (GRCm39) T375A possibly damaging Het
Ryr3 A T 2: 112,542,774 (GRCm39) M3145K probably damaging Het
S100a11 A G 3: 93,433,339 (GRCm39) K61R probably benign Het
Sar1a A G 10: 61,527,073 (GRCm39) T164A probably benign Het
Sec31b C T 19: 44,532,146 (GRCm39) A25T probably damaging Het
Smpd2 A G 10: 41,363,350 (GRCm39) V371A probably benign Het
Speer1g T A 5: 11,181,135 (GRCm39) Y141N possibly damaging Het
Spg11 A T 2: 121,905,832 (GRCm39) L1271* probably null Het
Svep1 T C 4: 58,115,862 (GRCm39) T944A possibly damaging Het
Taf6 A T 5: 138,178,207 (GRCm39) C431* probably null Het
Tdrd6 A G 17: 43,938,570 (GRCm39) V826A not run Het
Tent4a G T 13: 69,655,047 (GRCm39) P476T probably damaging Het
Tmem132a A G 19: 10,836,037 (GRCm39) V831A probably damaging Het
Tnfrsf8 T G 4: 144,995,685 (GRCm39) D458A probably damaging Het
Trpv5 A G 6: 41,651,590 (GRCm39) I196T probably damaging Het
Ttn T A 2: 76,608,898 (GRCm39) D17706V probably damaging Het
Uimc1 T C 13: 55,223,444 (GRCm39) Y276C probably damaging Het
Usp24 T A 4: 106,236,276 (GRCm39) I988K probably damaging Het
Vmn2r74 T A 7: 85,606,279 (GRCm39) R356* probably null Het
Wdr37 A T 13: 8,869,971 (GRCm39) H429Q probably damaging Het
Wwc2 A T 8: 48,333,185 (GRCm39) L277Q probably damaging Het
Zscan12 T A 13: 21,552,756 (GRCm39) N193K possibly 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
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
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
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'- GGGCACTAACTGAAGTCATGAC -3'
(R):5'- GGAAACGGCTTTTAGGATTATGACTG -3'

Sequencing Primer
(F):5'- GGCACTAACTGAAGTCATGACTAATC -3'
(R):5'- CGGCTTTTAGGATTATGACTGATTAC -3'
Posted On 2019-10-17