Incidental Mutation 'IGL02084:Abcd2'
ID |
283488 |
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: 0.104)
|
Stock # |
IGL02084
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 91062530 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 null
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
G |
11: 110,021,423 (GRCm39) |
F1096L |
probably benign |
Het |
Actr10 |
T |
C |
12: 71,001,423 (GRCm39) |
I210T |
probably damaging |
Het |
Apoa5 |
A |
T |
9: 46,181,950 (GRCm39) |
D342V |
probably damaging |
Het |
Bicra |
G |
A |
7: 15,721,663 (GRCm39) |
T618I |
probably benign |
Het |
Birc6 |
C |
A |
17: 74,915,277 (GRCm39) |
Q1642K |
probably benign |
Het |
Cenpn |
A |
G |
8: 117,667,634 (GRCm39) |
Y331C |
probably damaging |
Het |
Clcn7 |
T |
A |
17: 25,376,899 (GRCm39) |
I624N |
probably benign |
Het |
Eddm3b |
A |
T |
14: 51,354,087 (GRCm39) |
H25L |
unknown |
Het |
Fam90a1a |
A |
G |
8: 22,449,313 (GRCm39) |
E19G |
probably benign |
Het |
Fbh1 |
T |
C |
2: 11,768,938 (GRCm39) |
D285G |
probably benign |
Het |
Fbxo41 |
A |
T |
6: 85,457,747 (GRCm39) |
|
probably null |
Het |
Frem3 |
A |
G |
8: 81,339,072 (GRCm39) |
D455G |
possibly damaging |
Het |
Gart |
T |
C |
16: 91,418,488 (GRCm39) |
Q86R |
probably benign |
Het |
Gm45234 |
T |
C |
6: 124,724,658 (GRCm39) |
|
probably benign |
Het |
Gm5431 |
C |
T |
11: 48,779,912 (GRCm39) |
D337N |
probably benign |
Het |
Gm6882 |
T |
A |
7: 21,161,512 (GRCm39) |
I119F |
probably damaging |
Het |
Kcns3 |
C |
T |
12: 11,142,195 (GRCm39) |
R168Q |
probably damaging |
Het |
Klra17 |
T |
A |
6: 129,808,556 (GRCm39) |
N226Y |
probably damaging |
Het |
Macf1 |
T |
C |
4: 123,326,396 (GRCm39) |
N2915D |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,353,167 (GRCm39) |
D1504G |
probably damaging |
Het |
Mgat4d |
C |
T |
8: 84,095,610 (GRCm39) |
S295L |
possibly damaging |
Het |
Mslnl |
T |
C |
17: 25,965,125 (GRCm39) |
V497A |
probably benign |
Het |
Mtor |
T |
C |
4: 148,555,137 (GRCm39) |
S920P |
probably damaging |
Het |
Mynn |
C |
A |
3: 30,665,764 (GRCm39) |
H465Q |
probably damaging |
Het |
Myo16 |
A |
G |
8: 10,411,088 (GRCm39) |
E182G |
probably damaging |
Het |
Ncln |
T |
C |
10: 81,324,430 (GRCm39) |
I417V |
probably benign |
Het |
Nlrp4f |
A |
T |
13: 65,341,985 (GRCm39) |
C553* |
probably null |
Het |
Or5k14 |
G |
A |
16: 58,693,399 (GRCm39) |
T38I |
probably damaging |
Het |
Or8k37 |
T |
A |
2: 86,469,980 (GRCm39) |
Q24L |
possibly damaging |
Het |
Pkhd1 |
T |
C |
1: 20,447,623 (GRCm39) |
I2257V |
probably damaging |
Het |
Ppp4r4 |
T |
A |
12: 103,566,657 (GRCm39) |
S35T |
possibly damaging |
Het |
Qrfprl |
T |
C |
6: 65,358,594 (GRCm39) |
V106A |
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,336,499 (GRCm39) |
V3291A |
probably benign |
Het |
Runx2 |
C |
T |
17: 45,035,716 (GRCm39) |
A173T |
probably damaging |
Het |
Ryr2 |
A |
T |
13: 11,807,648 (GRCm39) |
Y833* |
probably null |
Het |
Setbp1 |
G |
A |
18: 78,900,625 (GRCm39) |
A1014V |
probably damaging |
Het |
Slc25a38 |
A |
G |
9: 119,949,512 (GRCm39) |
|
probably benign |
Het |
Stk4 |
A |
G |
2: 163,928,527 (GRCm39) |
T120A |
probably benign |
Het |
Taf3 |
A |
T |
2: 10,047,330 (GRCm39) |
V106D |
probably benign |
Het |
Uchl5 |
A |
G |
1: 143,677,912 (GRCm39) |
I139V |
possibly damaging |
Het |
Ung |
A |
G |
5: 114,268,637 (GRCm39) |
E25G |
probably benign |
Het |
Wrn |
A |
G |
8: 33,775,207 (GRCm39) |
V619A |
probably benign |
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 |
|
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 |
|
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 |