Incidental Mutation 'IGL02568:Abcd2'
ID |
298934 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Abcd2
|
Ensembl Gene |
ENSMUSG00000055782 |
Gene Name |
ATP-binding cassette, sub-family D member 2 |
Synonyms |
ALDR, adrenoleukodystrophy related, ABC39, ALDL1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.095)
|
Stock # |
IGL02568
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
Type of Mutation |
utr 3 prime |
DNA Base Change (assembly) |
A to G
at 91033184 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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
|
SMART Domains |
Protein: ENSMUSP00000068940 Gene: ENSMUSG00000055782
Domain | Start | End | E-Value | Type |
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 |
|
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcg5 |
C |
T |
17: 84,977,827 (GRCm39) |
R143Q |
probably damaging |
Het |
Arap3 |
G |
A |
18: 38,129,711 (GRCm39) |
T150I |
probably benign |
Het |
Arhgap32 |
T |
C |
9: 32,158,490 (GRCm39) |
V175A |
probably damaging |
Het |
Bpifb3 |
A |
G |
2: 153,766,721 (GRCm39) |
E208G |
probably benign |
Het |
C2 |
T |
A |
17: 35,083,325 (GRCm39) |
D518V |
possibly damaging |
Het |
C6 |
T |
A |
15: 4,820,646 (GRCm39) |
C552* |
probably null |
Het |
Ccdc38 |
A |
T |
10: 93,415,685 (GRCm39) |
D447V |
probably damaging |
Het |
Cept1 |
C |
T |
3: 106,411,035 (GRCm39) |
R386H |
probably benign |
Het |
Comt |
A |
G |
16: 18,230,454 (GRCm39) |
V85A |
probably damaging |
Het |
Ddx24 |
G |
T |
12: 103,383,571 (GRCm39) |
L627I |
probably damaging |
Het |
Efemp1 |
T |
C |
11: 28,866,971 (GRCm39) |
|
probably null |
Het |
Etf1 |
T |
C |
18: 35,046,714 (GRCm39) |
T99A |
possibly damaging |
Het |
Fhad1 |
T |
C |
4: 141,660,105 (GRCm39) |
E68G |
probably null |
Het |
Fzd3 |
C |
A |
14: 65,473,389 (GRCm39) |
|
probably benign |
Het |
Gins3 |
T |
C |
8: 96,364,606 (GRCm39) |
F119L |
probably benign |
Het |
Golga5 |
G |
T |
12: 102,438,338 (GRCm39) |
V18L |
probably benign |
Het |
Il16 |
C |
A |
7: 83,310,484 (GRCm39) |
R474M |
probably damaging |
Het |
Itpr1 |
C |
A |
6: 108,316,515 (GRCm39) |
Q71K |
possibly damaging |
Het |
Kif21b |
T |
G |
1: 136,100,605 (GRCm39) |
L1562R |
probably damaging |
Het |
Lamc2 |
T |
C |
1: 153,042,008 (GRCm39) |
E42G |
possibly damaging |
Het |
Mmp3 |
T |
G |
9: 7,446,001 (GRCm39) |
L35R |
probably benign |
Het |
Naip6 |
C |
A |
13: 100,452,780 (GRCm39) |
G94W |
probably damaging |
Het |
Nccrp1 |
G |
A |
7: 28,243,905 (GRCm39) |
A226V |
probably damaging |
Het |
Nckap5l |
A |
G |
15: 99,323,564 (GRCm39) |
Y980H |
probably damaging |
Het |
Ncoa3 |
T |
C |
2: 165,911,277 (GRCm39) |
S1345P |
probably damaging |
Het |
Nop2 |
T |
C |
6: 125,117,813 (GRCm39) |
S455P |
probably damaging |
Het |
Nup93 |
T |
C |
8: 95,036,263 (GRCm39) |
F689S |
probably damaging |
Het |
Or5b112 |
T |
C |
19: 13,319,583 (GRCm39) |
F154L |
probably benign |
Het |
Plekhm1 |
T |
A |
11: 103,285,876 (GRCm39) |
E186D |
probably damaging |
Het |
Plxdc1 |
T |
C |
11: 97,869,390 (GRCm39) |
Q66R |
probably damaging |
Het |
Prkdc |
T |
G |
16: 15,544,406 (GRCm39) |
Y1799D |
probably damaging |
Het |
Rasa2 |
A |
G |
9: 96,462,563 (GRCm39) |
F220L |
probably damaging |
Het |
Rftn1 |
T |
C |
17: 50,344,027 (GRCm39) |
D87G |
probably damaging |
Het |
Rgs6 |
C |
T |
12: 83,117,376 (GRCm39) |
T266M |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,326,054 (GRCm39) |
Y1208H |
probably damaging |
Het |
Slc12a1 |
G |
T |
2: 125,026,648 (GRCm39) |
V428L |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Svep1 |
T |
A |
4: 58,135,441 (GRCm39) |
T556S |
probably benign |
Het |
Tanc2 |
T |
A |
11: 105,667,777 (GRCm39) |
N119K |
probably benign |
Het |
Tpgs1 |
T |
A |
10: 79,505,238 (GRCm39) |
|
probably benign |
Het |
Tpm3-rs7 |
A |
G |
14: 113,552,370 (GRCm39) |
E88G |
probably damaging |
Het |
Tsr1 |
T |
C |
11: 74,791,204 (GRCm39) |
V261A |
probably benign |
Het |
Usp18 |
C |
T |
6: 121,238,050 (GRCm39) |
T143I |
probably benign |
Het |
Vmn2r24 |
T |
C |
6: 123,792,812 (GRCm39) |
I713T |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
Other mutations in Abcd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
|
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 |
|
|
Posted On |
2015-04-16 |