Incidental Mutation 'R4929:Abcd3'
ID 381072
Institutional Source Beutler Lab
Gene Symbol Abcd3
Ensembl Gene ENSMUSG00000028127
Gene Name ATP-binding cassette, sub-family D member 3
Synonyms PMP70, Pxmp1
MMRRC Submission 042530-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4929 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 121552423-121608951 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 121562395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029770] [ENSMUST00000197383] [ENSMUST00000197662]
AlphaFold P55096
Predicted Effect probably null
Transcript: ENSMUST00000029770
SMART Domains Protein: ENSMUSP00000029770
Gene: ENSMUSG00000028127

DomainStartEndE-ValueType
low complexity region 15 33 N/A INTRINSIC
Pfam:ABC_membrane_2 57 338 8.6e-106 PFAM
AAA 465 640 6.88e-6 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196340
Predicted Effect probably null
Transcript: ENSMUST00000197383
SMART Domains Protein: ENSMUSP00000142387
Gene: ENSMUSG00000028127

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Pfam:ABC_membrane_2 57 277 2.3e-78 PFAM
AAA 355 530 1.1e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000197662
SMART Domains Protein: ENSMUSP00000143487
Gene: ENSMUSG00000028127

DomainStartEndE-ValueType
signal peptide 1 32 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199084
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
Validation Efficiency 100% (66/66)
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 likely plays an important role in peroxisome biogenesis. Mutations have been associated with some forms of Zellweger syndrome, a heterogeneous group of peroxisome assembly disorders. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation show enlarged livers, abnormal bile composition and peroxisome abnormalities. [provided by MGI curators]
Allele List at MGI

All alleles(11) : Targeted, other(2) Gene trapped(9)
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A G 7: 29,273,467 (GRCm39) noncoding transcript Het
Adamts12 C T 15: 11,259,108 (GRCm39) R551C probably damaging Het
Adamtsl4 A G 3: 95,585,315 (GRCm39) C818R probably damaging Het
Arfgef3 T A 10: 18,506,599 (GRCm39) Q842L probably benign Het
Aurka A T 2: 172,212,326 (GRCm39) V17E probably benign Het
Cdh24 C T 14: 54,870,973 (GRCm39) V132I probably benign Het
Cep57l1 T C 10: 41,621,910 (GRCm39) D2G possibly damaging Het
Cntn5 T A 9: 9,976,400 (GRCm39) probably null Het
Col10a1 T C 10: 34,271,120 (GRCm39) I364T probably benign Het
Dpp6 G A 5: 27,254,785 (GRCm39) A67T probably benign Het
Dym T A 18: 75,376,357 (GRCm39) V583E probably damaging Het
Efcab5 T G 11: 76,994,209 (GRCm39) K1259N probably benign Het
Ehbp1 T G 11: 22,189,169 (GRCm39) I78L possibly damaging Het
Epha1 C A 6: 42,341,533 (GRCm39) A469S probably benign Het
Fam135a T C 1: 24,069,081 (GRCm39) D596G probably benign Het
Filip1 T C 9: 79,727,029 (GRCm39) N530S probably benign Het
Gm57858 G A 3: 36,089,487 (GRCm39) L146F probably damaging Het
Grhl2 A G 15: 37,361,046 (GRCm39) N610S probably benign Het
Haus6 T C 4: 86,513,670 (GRCm39) I331V probably benign Het
Ints2 G T 11: 86,103,479 (GRCm39) N1192K possibly damaging Het
Itga5 A G 15: 103,261,662 (GRCm39) V445A probably benign Het
Itga9 C A 9: 118,636,317 (GRCm39) D82E probably damaging Het
Jam2 G A 16: 84,619,750 (GRCm39) probably benign Het
Klhl32 T A 4: 24,709,030 (GRCm39) I112F probably damaging Het
Lepr A G 4: 101,672,314 (GRCm39) I1113V probably benign Het
Lrrc3b C A 14: 15,357,888 (GRCm38) L239F probably damaging Het
Lzic T A 4: 149,572,585 (GRCm39) probably null Het
Mxra8 T A 4: 155,927,118 (GRCm39) F351I probably damaging Het
Naa40 A G 19: 7,207,347 (GRCm39) F126L probably damaging Het
Nbeal1 C T 1: 60,277,813 (GRCm39) S733F probably damaging Het
Olr1 T C 6: 129,477,044 (GRCm39) T74A probably damaging Het
Or52x1 A G 7: 104,853,232 (GRCm39) I106T probably damaging Het
Or5aq7 A G 2: 86,938,527 (GRCm39) F68S possibly damaging Het
Or5h17 A C 16: 58,820,582 (GRCm39) Y178S probably damaging Het
Pgam5 A T 5: 110,413,691 (GRCm39) V130D probably damaging Het
Pop4 A G 7: 37,965,573 (GRCm39) C115R probably damaging Het
Prpf18 A T 2: 4,629,348 (GRCm39) probably null Het
Psg16 G A 7: 16,829,031 (GRCm39) R205H possibly damaging Het
Ptgr1 C A 4: 58,981,879 (GRCm39) A53S probably benign Het
Shank2 A G 7: 143,965,008 (GRCm39) D1451G probably benign Het
Slfn10-ps A G 11: 82,920,345 (GRCm39) noncoding transcript Het
Sox8 G A 17: 25,789,330 (GRCm39) A56V probably benign Het
Ssr3 A G 3: 65,295,175 (GRCm39) S113P probably damaging Het
Stx16 T C 2: 173,938,721 (GRCm39) Y296H possibly damaging Het
Tfcp2 A T 15: 100,426,370 (GRCm39) N60K probably benign Het
Thada T C 17: 84,751,654 (GRCm39) T441A probably benign Het
Trf G T 9: 103,105,074 (GRCm39) probably benign Het
Vamp2 T A 11: 68,979,488 (GRCm39) probably benign Het
Vmn2r105 A T 17: 20,448,280 (GRCm39) D181E probably benign Het
Vmn2r12 A T 5: 109,239,544 (GRCm39) Y340N probably damaging Het
Wasf2 C A 4: 132,923,170 (GRCm39) D493E unknown Het
Wdfy4 T C 14: 32,769,213 (GRCm39) D2084G possibly damaging Het
Zfp229 T A 17: 21,965,354 (GRCm39) I528N probably damaging Het
Zfp703 T A 8: 27,468,879 (GRCm39) V181E possibly damaging Het
Other mutations in Abcd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Abcd3 APN 3 121,570,642 (GRCm39) splice site probably benign
IGL00670:Abcd3 APN 3 121,569,333 (GRCm39) missense probably damaging 1.00
IGL02473:Abcd3 APN 3 121,562,893 (GRCm39) missense possibly damaging 0.74
IGL02660:Abcd3 APN 3 121,577,669 (GRCm39) missense probably damaging 1.00
IGL02993:Abcd3 APN 3 121,567,659 (GRCm39) missense probably benign 0.01
IGL03131:Abcd3 APN 3 121,575,640 (GRCm39) splice site probably benign
3-1:Abcd3 UTSW 3 121,553,949 (GRCm39) missense probably benign
R0324:Abcd3 UTSW 3 121,562,816 (GRCm39) missense probably null 0.00
R0599:Abcd3 UTSW 3 121,558,742 (GRCm39) missense probably damaging 1.00
R0682:Abcd3 UTSW 3 121,563,216 (GRCm39) missense possibly damaging 0.90
R1109:Abcd3 UTSW 3 121,573,245 (GRCm39) missense probably damaging 1.00
R1453:Abcd3 UTSW 3 121,558,710 (GRCm39) missense probably damaging 1.00
R1544:Abcd3 UTSW 3 121,578,122 (GRCm39) missense probably benign 0.11
R1571:Abcd3 UTSW 3 121,586,491 (GRCm39) missense possibly damaging 0.80
R1779:Abcd3 UTSW 3 121,575,612 (GRCm39) missense probably damaging 1.00
R2429:Abcd3 UTSW 3 121,586,512 (GRCm39) missense probably damaging 1.00
R4326:Abcd3 UTSW 3 121,555,119 (GRCm39) missense probably benign 0.06
R4676:Abcd3 UTSW 3 121,567,815 (GRCm39) missense possibly damaging 0.69
R4830:Abcd3 UTSW 3 121,553,933 (GRCm39) missense probably damaging 1.00
R4980:Abcd3 UTSW 3 121,562,917 (GRCm39) splice site probably null
R5052:Abcd3 UTSW 3 121,563,162 (GRCm39) critical splice donor site probably null
R5384:Abcd3 UTSW 3 121,555,059 (GRCm39) splice site probably null
R5616:Abcd3 UTSW 3 121,566,009 (GRCm39) missense probably benign 0.00
R5796:Abcd3 UTSW 3 121,578,147 (GRCm39) missense probably damaging 1.00
R8936:Abcd3 UTSW 3 121,569,117 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- GTGACTTCAAGCAAGCATTTGG -3'
(R):5'- AGTGCTGTATTCTCATCGCC -3'

Sequencing Primer
(F):5'- TTCAAGCAAGCATTTGGTCCCAG -3'
(R):5'- GCACTGTCATTAAGCTCCTAGAC -3'
Posted On 2016-04-15