Incidental Mutation 'R5492:Abcd2'
ID |
432139 |
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 |
043053-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R5492 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 91073176 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 328
(Y328H)
|
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: Y328H
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000068940 Gene: ENSMUSG00000055782 AA Change: Y328H
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230461
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.1%
- 10x: 94.5%
- 20x: 89.3%
|
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. 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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
C |
T |
1: 11,615,431 (GRCm39) |
R135C |
probably damaging |
Het |
Abcg4 |
T |
C |
9: 44,189,355 (GRCm39) |
T381A |
probably benign |
Het |
Adamts12 |
A |
G |
15: 11,336,384 (GRCm39) |
N1490D |
probably benign |
Het |
Aldh18a1 |
C |
T |
19: 40,539,734 (GRCm39) |
R747Q |
probably damaging |
Het |
Armc8 |
G |
T |
9: 99,409,184 (GRCm39) |
C169* |
probably null |
Het |
Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
Bsn |
G |
A |
9: 107,989,714 (GRCm39) |
P2013S |
probably damaging |
Het |
Cdc16 |
A |
G |
8: 13,813,915 (GRCm39) |
|
probably null |
Het |
Cmtr1 |
T |
A |
17: 29,909,316 (GRCm39) |
F408L |
probably damaging |
Het |
Col4a2 |
C |
T |
8: 11,488,608 (GRCm39) |
R1104W |
possibly damaging |
Het |
Drg2 |
A |
C |
11: 60,352,422 (GRCm39) |
H208P |
probably damaging |
Het |
Frem3 |
A |
T |
8: 81,339,306 (GRCm39) |
D533V |
probably damaging |
Het |
Gm9930 |
T |
A |
10: 9,410,337 (GRCm39) |
|
noncoding transcript |
Het |
Haus5 |
A |
G |
7: 30,358,380 (GRCm39) |
V305A |
possibly damaging |
Het |
Hint3 |
C |
A |
10: 30,494,245 (GRCm39) |
R30L |
probably benign |
Het |
Hltf |
T |
A |
3: 20,152,231 (GRCm39) |
|
probably null |
Het |
Hmcn2 |
T |
A |
2: 31,310,318 (GRCm39) |
L3304Q |
probably benign |
Het |
Hspa2 |
A |
G |
12: 76,451,308 (GRCm39) |
M1V |
probably null |
Het |
Htr5b |
T |
C |
1: 121,455,387 (GRCm39) |
T178A |
possibly damaging |
Het |
Ighv1-11 |
A |
G |
12: 114,576,084 (GRCm39) |
S44P |
probably damaging |
Het |
Larp1b |
C |
T |
3: 40,924,334 (GRCm39) |
R104W |
probably damaging |
Het |
Map3k2 |
A |
G |
18: 32,361,189 (GRCm39) |
T550A |
probably damaging |
Het |
Map4 |
T |
A |
9: 109,881,450 (GRCm39) |
S105T |
possibly damaging |
Het |
Mgam |
T |
C |
6: 40,733,297 (GRCm39) |
C691R |
probably damaging |
Het |
Mms19 |
A |
G |
19: 41,944,270 (GRCm39) |
I310T |
possibly damaging |
Het |
Myh2 |
A |
C |
11: 67,071,701 (GRCm39) |
K506T |
probably benign |
Het |
Ngdn |
T |
C |
14: 55,260,509 (GRCm39) |
V239A |
probably benign |
Het |
Plin1 |
G |
A |
7: 79,375,460 (GRCm39) |
R151* |
probably null |
Het |
Rbpjl |
GCC |
GC |
2: 164,256,330 (GRCm39) |
|
probably null |
Het |
Rdh16f2 |
G |
T |
10: 127,702,623 (GRCm39) |
E67* |
probably null |
Het |
Slc25a36 |
A |
C |
9: 96,982,259 (GRCm39) |
C25W |
probably damaging |
Het |
Stk31 |
G |
A |
6: 49,375,177 (GRCm39) |
A49T |
probably damaging |
Het |
Tigar |
T |
A |
6: 127,066,167 (GRCm39) |
T124S |
possibly damaging |
Het |
Tsn |
A |
G |
1: 118,232,443 (GRCm39) |
V144A |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably damaging |
Het |
Zfp943 |
T |
A |
17: 22,212,056 (GRCm39) |
C381S |
probably damaging |
Het |
Zfyve19 |
A |
T |
2: 119,039,595 (GRCm39) |
|
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 |
|
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 |
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 |
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'- GGACATGCAATGACATCTTCAAGAG -3'
(R):5'- AGGCTCCTGTCTCACTCATG -3'
Sequencing Primer
(F):5'- CTTCAAGAGAAACAATGTTAAGCATC -3'
(R):5'- GACTAATTCTGGTGTCTAGTTACATG -3'
|
Posted On |
2016-10-05 |