Incidental Mutation 'IGL01343:Abcd2'
| ID |
74966 |
| 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 # |
IGL01343
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 91033416 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf1 |
T |
A |
17: 43,624,086 (GRCm39) |
F835L |
probably null |
Het |
| Akp3 |
G |
T |
1: 87,054,858 (GRCm39) |
|
probably benign |
Het |
| BC106179 |
G |
T |
16: 23,043,037 (GRCm39) |
|
probably benign |
Het |
| Bysl |
C |
A |
17: 47,912,814 (GRCm39) |
M325I |
probably benign |
Het |
| Cip2a |
A |
G |
16: 48,833,551 (GRCm39) |
I551V |
probably damaging |
Het |
| Crnn |
A |
G |
3: 93,055,633 (GRCm39) |
R140G |
probably benign |
Het |
| Cts8 |
T |
C |
13: 61,397,010 (GRCm39) |
|
probably benign |
Het |
| Cxcr4 |
T |
C |
1: 128,517,292 (GRCm39) |
Y121C |
probably damaging |
Het |
| Ddr2 |
T |
C |
1: 169,812,150 (GRCm39) |
T691A |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,915,313 (GRCm39) |
F782I |
probably benign |
Het |
| Efcab5 |
C |
T |
11: 77,020,756 (GRCm39) |
G655D |
probably damaging |
Het |
| Eif2ak4 |
G |
A |
2: 118,252,570 (GRCm39) |
V381I |
probably benign |
Het |
| Enpp3 |
A |
T |
10: 24,681,820 (GRCm39) |
Y295* |
probably null |
Het |
| Fbxo28 |
T |
C |
1: 182,144,577 (GRCm39) |
E329G |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,850,127 (GRCm39) |
Q1191R |
probably benign |
Het |
| Fmnl2 |
T |
A |
2: 53,013,557 (GRCm39) |
V972D |
probably damaging |
Het |
| Fmr1 |
A |
G |
X: 67,731,901 (GRCm39) |
D22G |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,830,163 (GRCm39) |
T6886A |
possibly damaging |
Het |
| Gadl1 |
A |
G |
9: 115,903,180 (GRCm39) |
*503W |
probably null |
Het |
| Gpc6 |
A |
T |
14: 117,424,224 (GRCm39) |
K104I |
possibly damaging |
Het |
| Hecw2 |
T |
A |
1: 53,866,135 (GRCm39) |
T1509S |
probably damaging |
Het |
| Lonp1 |
A |
G |
17: 56,922,586 (GRCm39) |
L680P |
possibly damaging |
Het |
| Lrrc66 |
A |
T |
5: 73,765,806 (GRCm39) |
N412K |
probably damaging |
Het |
| Marco |
C |
T |
1: 120,422,469 (GRCm39) |
|
probably null |
Het |
| Mdga2 |
T |
C |
12: 66,769,883 (GRCm39) |
T206A |
probably damaging |
Het |
| Mogat2 |
C |
A |
7: 98,881,775 (GRCm39) |
A54S |
possibly damaging |
Het |
| Myh15 |
T |
A |
16: 48,976,040 (GRCm39) |
D1369E |
probably benign |
Het |
| Nckap1 |
A |
T |
2: 80,350,186 (GRCm39) |
S840T |
possibly damaging |
Het |
| Ncor1 |
C |
T |
11: 62,216,312 (GRCm39) |
|
probably null |
Het |
| Nfrkb |
C |
A |
9: 31,300,250 (GRCm39) |
L14I |
probably damaging |
Het |
| Notch1 |
C |
A |
2: 26,362,917 (GRCm39) |
A950S |
probably benign |
Het |
| Notch3 |
T |
C |
17: 32,362,410 (GRCm39) |
E1405G |
probably benign |
Het |
| Nsd2 |
C |
A |
5: 34,000,922 (GRCm39) |
D146E |
probably damaging |
Het |
| Oc90 |
T |
C |
15: 65,761,440 (GRCm39) |
T193A |
probably benign |
Het |
| Or7c70 |
A |
T |
10: 78,683,431 (GRCm39) |
V106E |
probably damaging |
Het |
| Or8g50 |
C |
A |
9: 39,649,011 (GRCm39) |
A300D |
probably damaging |
Het |
| Or8k40 |
T |
A |
2: 86,584,843 (GRCm39) |
K80* |
probably null |
Het |
| Orc2 |
A |
T |
1: 58,532,014 (GRCm39) |
|
probably null |
Het |
| Pacsin2 |
T |
C |
15: 83,270,887 (GRCm39) |
H254R |
probably damaging |
Het |
| Pif1 |
T |
A |
9: 65,496,844 (GRCm39) |
M319K |
probably damaging |
Het |
| Prag1 |
G |
A |
8: 36,570,200 (GRCm39) |
R261H |
possibly damaging |
Het |
| Ptprq |
G |
A |
10: 107,474,700 (GRCm39) |
T1335I |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,490,399 (GRCm39) |
Y3812H |
probably damaging |
Het |
| Sgo2b |
G |
A |
8: 64,380,349 (GRCm39) |
Q828* |
probably null |
Het |
| Skint6 |
A |
G |
4: 113,140,823 (GRCm39) |
V6A |
probably benign |
Het |
| Slc16a13 |
A |
G |
11: 70,111,340 (GRCm39) |
I55T |
probably damaging |
Het |
| Slc22a3 |
A |
T |
17: 12,644,516 (GRCm39) |
W490R |
probably damaging |
Het |
| Speer4b |
G |
T |
5: 27,702,881 (GRCm39) |
H208N |
probably benign |
Het |
| Tas2r124 |
T |
C |
6: 132,732,378 (GRCm39) |
L229S |
probably damaging |
Het |
| Tlr4 |
T |
C |
4: 66,752,124 (GRCm39) |
|
probably benign |
Het |
| Tmed1 |
G |
T |
9: 21,421,369 (GRCm39) |
T35K |
probably damaging |
Het |
| Tubgcp5 |
C |
A |
7: 55,445,779 (GRCm39) |
|
probably benign |
Het |
| Ugt2b34 |
A |
G |
5: 87,052,247 (GRCm39) |
S250P |
possibly damaging |
Het |
| Zfp516 |
A |
G |
18: 83,011,221 (GRCm39) |
T1085A |
probably damaging |
Het |
| Znfx1 |
T |
C |
2: 166,879,283 (GRCm39) |
I1698V |
probably benign |
Het |
| Zswim8 |
G |
T |
14: 20,763,409 (GRCm39) |
W385C |
probably damaging |
Het |
|
| Other mutations in Abcd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation