Incidental Mutation 'R1453:Abcd3'
ID 161590
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 039508-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1453 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 121552423-121608951 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121558710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 595 (D595E)
Ref Sequence ENSEMBL: ENSMUSP00000029770 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029770] [ENSMUST00000197383] [ENSMUST00000197662]
AlphaFold P55096
Predicted Effect probably damaging
Transcript: ENSMUST00000029770
AA Change: D595E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029770
Gene: ENSMUSG00000028127
AA Change: D595E

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 unknown
Transcript: ENSMUST00000197383
AA Change: D485E
SMART Domains Protein: ENSMUSP00000142387
Gene: ENSMUSG00000028127
AA Change: D485E

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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.3%
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 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
Abca4 A G 3: 121,862,763 (GRCm39) I240M probably benign Het
Akap9 A G 5: 4,025,614 (GRCm39) probably null Het
Arpc1b A G 5: 145,062,555 (GRCm39) D223G probably damaging Het
Atp6ap1l T A 13: 91,046,866 (GRCm39) T104S probably benign Het
BC005537 T C 13: 24,989,969 (GRCm39) probably null Het
Ccdc9b T C 2: 118,587,903 (GRCm39) D477G possibly damaging Het
Chrdl2 T C 7: 99,666,197 (GRCm39) V39A possibly damaging Het
Clmp C G 9: 40,693,737 (GRCm39) S318W probably damaging Het
Cmas T C 6: 142,717,853 (GRCm39) S323P probably damaging Het
Cnksr3 T C 10: 7,079,132 (GRCm39) T80A probably benign Het
Ddx25 T C 9: 35,453,298 (GRCm39) Y484C probably damaging Het
Dennd6b A G 15: 89,073,075 (GRCm39) V154A probably damaging Het
Dmxl1 G A 18: 49,990,316 (GRCm39) V252I probably benign Het
Dnah2 T C 11: 69,341,876 (GRCm39) Y3003C probably damaging Het
Dnhd1 T C 7: 105,370,480 (GRCm39) probably null Het
Dppa4 G A 16: 48,111,596 (GRCm39) A194T probably damaging Het
Dst T C 1: 34,228,527 (GRCm39) V2218A possibly damaging Het
Dytn G C 1: 63,673,032 (GRCm39) S457C probably damaging Het
Fndc3a G A 14: 72,777,768 (GRCm39) Q1101* probably null Het
Focad A T 4: 88,275,679 (GRCm39) probably null Het
Gas2l2 T A 11: 83,312,907 (GRCm39) T802S probably benign Het
Gm5093 A G 17: 46,750,622 (GRCm39) F135S probably benign Het
Gmeb1 A T 4: 131,969,759 (GRCm39) D71E possibly damaging Het
Heatr5b G A 17: 79,124,992 (GRCm39) R587C probably damaging Het
Jakmip2 T C 18: 43,692,279 (GRCm39) probably null Het
Mier3 T A 13: 111,841,778 (GRCm39) L111Q probably damaging Het
Mrgprg G A 7: 143,318,779 (GRCm39) S111F possibly damaging Het
Mybl1 T C 1: 9,741,901 (GRCm39) K677R probably benign Het
Nhsl1 T C 10: 18,407,323 (GRCm39) S1486P probably damaging Het
Nup133 A G 8: 124,642,114 (GRCm39) I783T probably benign Het
Or10d4c A T 9: 39,558,459 (GRCm39) T146S probably benign Het
Or5an1c A T 19: 12,218,956 (GRCm39) I23K probably benign Het
Pigr A T 1: 130,769,281 (GRCm39) I31L probably benign Het
Plaat5 A G 19: 7,616,999 (GRCm39) probably benign Het
Pole2 G A 12: 69,254,703 (GRCm39) L381F probably benign Het
Pramel6 T A 2: 87,338,917 (GRCm39) M39K possibly damaging Het
Rapgef6 T A 11: 54,530,553 (GRCm39) probably null Het
Rinl T C 7: 28,496,329 (GRCm39) C437R probably damaging Het
Shank1 T C 7: 43,965,499 (GRCm39) S192P unknown Het
Slc2a10 A T 2: 165,359,570 (GRCm39) Y478F probably damaging Het
Slc37a3 A T 6: 39,343,877 (GRCm39) L12H probably damaging Het
Slit2 T A 5: 48,414,393 (GRCm39) C970S possibly damaging Het
Stard9 T C 2: 120,496,857 (GRCm39) S119P probably damaging Het
Stim2 C A 5: 54,273,451 (GRCm39) D568E probably damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Traf3 A G 12: 111,221,757 (GRCm39) E306G probably damaging Het
Trappc9 G A 15: 72,897,816 (GRCm39) R377W probably damaging Het
Ttll6 T C 11: 96,049,714 (GRCm39) S811P possibly damaging Het
Ubr7 A G 12: 102,735,437 (GRCm39) K299E probably benign Het
Urb1 C A 16: 90,593,380 (GRCm39) V251L probably damaging Het
Vps13b G T 15: 35,422,590 (GRCm39) E183D probably damaging Het
Zfp35 T G 18: 24,136,557 (GRCm39) Y300* probably null Het
Zfp414 C T 17: 33,849,012 (GRCm39) T33I probably damaging Het
Zfp938 C T 10: 82,063,632 (GRCm39) probably null 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
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
R4929:Abcd3 UTSW 3 121,562,395 (GRCm39) splice site probably null
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'- TCTCAGTAGCATTCTCGTTGCTTGG -3'
(R):5'- AGCTTTCAGAGACAGCACACTTCC -3'

Sequencing Primer
(F):5'- GAATTCCCTCTGGGCCAAG -3'
(R):5'- attatttCTGTCTCTGGGATGATGC -3'
Posted On 2014-03-14