Incidental Mutation 'R1226:Abcd2'
ID 152249
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 039295-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R1226 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 91030074-91076002 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 91075246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Glutamic Acid at position 189 (A189E)
Ref Sequence ENSEMBL: ENSMUSP00000068940 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069511]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000069511
AA Change: A189E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: A189E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230461
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.4%
  • 10x: 96.3%
  • 20x: 92.4%
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
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Ahcy T C 2: 154,906,817 (GRCm39) T159A probably benign Het
Arfgef2 T C 2: 166,669,560 (GRCm39) V84A probably damaging Het
Brwd1 G A 16: 95,832,748 (GRCm39) T1036M probably benign Het
Ccdc187 G T 2: 26,166,133 (GRCm39) S765R probably damaging Het
Cfap210 A G 2: 69,617,553 (GRCm39) M76T possibly damaging Het
Chd1l G A 3: 97,469,941 (GRCm39) R862* probably null Het
Crmp1 A G 5: 37,430,778 (GRCm39) D71G probably damaging Het
Ctif CTGTGTCCGGTGT CTGT 18: 75,654,650 (GRCm39) probably benign Het
Ctsb A C 14: 63,379,189 (GRCm39) Y267S probably damaging Het
Cyp4a12b T A 4: 115,290,164 (GRCm39) I239N possibly damaging Het
Dna2 T C 10: 62,796,203 (GRCm39) V544A possibly damaging Het
Dnhd1 T A 7: 105,346,106 (GRCm39) F2364Y probably damaging Het
Fsip2 A T 2: 82,811,355 (GRCm39) E2558V probably damaging Het
Gm10061 A C 16: 88,948,169 (GRCm39) Y48S unknown Het
Herc1 T A 9: 66,323,545 (GRCm39) M1353K probably benign Het
Kirrel1 C T 3: 86,996,458 (GRCm39) M380I probably null Het
Lin7a T C 10: 107,107,780 (GRCm39) V20A probably benign Het
Lsr T A 7: 30,671,308 (GRCm39) I142F probably damaging Het
Mei1 C T 15: 81,964,285 (GRCm39) T275I possibly damaging Het
Mon2 A G 10: 122,838,724 (GRCm39) V1593A probably benign Het
Mrpl32 A G 13: 14,786,096 (GRCm39) I74T probably benign Het
Nek11 C T 9: 105,270,091 (GRCm39) V44I probably damaging Het
Noa1 A G 5: 77,455,402 (GRCm39) V438A possibly damaging Het
Or5an1c A C 19: 12,218,950 (GRCm39) I25R probably benign Het
Or7g16 C T 9: 18,727,266 (GRCm39) C108Y probably benign Het
Or8g18 G C 9: 39,149,547 (GRCm39) P58A probably benign Het
Pcdhb17 T C 18: 37,620,313 (GRCm39) L701P probably damaging Het
Pde11a G A 2: 75,988,698 (GRCm39) S481L probably benign Het
Prkdc T C 16: 15,491,861 (GRCm39) I602T possibly damaging Het
Ptprh T A 7: 4,606,091 (GRCm39) R3* probably null Het
Reln A G 5: 22,115,864 (GRCm39) L3048P probably damaging Het
Slc6a11 T A 6: 114,171,624 (GRCm39) I265N possibly damaging Het
Sorbs2 T C 8: 46,248,656 (GRCm39) S636P probably damaging Het
Supt5 T C 7: 28,028,172 (GRCm39) I44V probably benign Het
Tdrd6 T A 17: 43,937,523 (GRCm39) E1175V possibly damaging Het
Tnxb A C 17: 34,907,903 (GRCm39) T1316P probably damaging Het
Ufc1 A C 1: 171,116,810 (GRCm39) D119E probably benign Het
Vmn1r220 A G 13: 23,368,294 (GRCm39) F134S probably damaging Het
Zfp106 A G 2: 120,354,560 (GRCm39) S1404P probably damaging Het
Zfp866 A G 8: 70,218,940 (GRCm39) F227L probably damaging Het
Zfyve28 A T 5: 34,374,408 (GRCm39) H535Q 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCATACACGACAAGTCCTGCTAAC -3'
(R):5'- TCCACTCGGTGGCTCTAATCTCAAG -3'

Sequencing Primer
(F):5'- CAAGTCCTGCTAACAGGGTG -3'
(R):5'- GGTGGCTCTAATCTCAAGAACATTTC -3'
Posted On 2014-01-29