Incidental Mutation 'R1581:Abcd2'
| ID |
171438 |
| 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 |
039618-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R1581 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91063347 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 447
(E447G)
|
| 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: E447G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: E447G
| 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 |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.6%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn4 |
T |
C |
7: 28,598,071 (GRCm39) |
T510A |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,133,153 (GRCm39) |
M1311T |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Bicdl1 |
G |
T |
5: 115,789,326 (GRCm39) |
|
probably benign |
Het |
| Bmyc |
T |
C |
2: 25,597,346 (GRCm39) |
S137P |
probably damaging |
Het |
| Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,713,644 (GRCm39) |
T292I |
possibly damaging |
Het |
| Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
| Cibar1 |
T |
A |
4: 12,155,745 (GRCm39) |
|
probably null |
Het |
| Cnnm2 |
A |
G |
19: 46,751,562 (GRCm39) |
T451A |
probably damaging |
Het |
| Eed |
T |
C |
7: 89,629,676 (GRCm39) |
K20E |
possibly damaging |
Het |
| Eps15 |
T |
A |
4: 109,220,383 (GRCm39) |
M180K |
probably benign |
Het |
| Esr1 |
T |
C |
10: 4,947,905 (GRCm39) |
I486T |
probably damaging |
Het |
| Etnppl |
A |
G |
3: 130,422,393 (GRCm39) |
I207V |
possibly damaging |
Het |
| Fancg |
G |
A |
4: 43,007,039 (GRCm39) |
P246L |
probably damaging |
Het |
| Fcrl1 |
G |
A |
3: 87,293,030 (GRCm39) |
C249Y |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,839,961 (GRCm39) |
F110L |
possibly damaging |
Het |
| Fsip2 |
A |
T |
2: 82,816,626 (GRCm39) |
N4120Y |
probably damaging |
Het |
| Gm4884 |
C |
T |
7: 40,693,255 (GRCm39) |
S408L |
probably benign |
Het |
| Gm9476 |
T |
C |
10: 100,142,474 (GRCm39) |
|
noncoding transcript |
Het |
| Gria1 |
T |
C |
11: 57,127,836 (GRCm39) |
|
probably null |
Het |
| H6pd |
T |
A |
4: 150,066,971 (GRCm39) |
I472F |
possibly damaging |
Het |
| Hydin |
A |
T |
8: 111,137,092 (GRCm39) |
M632L |
probably benign |
Het |
| Hyou1 |
C |
T |
9: 44,300,167 (GRCm39) |
P819S |
probably damaging |
Het |
| Il6st |
A |
G |
13: 112,618,075 (GRCm39) |
E163G |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,722,278 (GRCm39) |
V27A |
possibly damaging |
Het |
| Kdelr3 |
T |
C |
15: 79,407,114 (GRCm39) |
|
probably null |
Het |
| Klk1b22 |
A |
G |
7: 43,765,399 (GRCm39) |
N117S |
possibly damaging |
Het |
| Klrh1 |
T |
C |
6: 129,752,796 (GRCm39) |
D3G |
probably benign |
Het |
| Lpp |
C |
A |
16: 24,500,591 (GRCm39) |
C134* |
probably null |
Het |
| Lrrc37a |
G |
A |
11: 103,347,843 (GRCm39) |
R2951* |
probably null |
Het |
| Luzp2 |
T |
A |
7: 54,899,238 (GRCm39) |
D285E |
possibly damaging |
Het |
| Ly75 |
C |
T |
2: 60,158,237 (GRCm39) |
R1016H |
probably damaging |
Het |
| Mesp2 |
T |
A |
7: 79,462,289 (GRCm39) |
S282T |
possibly damaging |
Het |
| Nav3 |
T |
C |
10: 109,659,289 (GRCm39) |
D776G |
probably damaging |
Het |
| Nr2e1 |
T |
C |
10: 42,443,964 (GRCm39) |
T253A |
probably benign |
Het |
| Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
| Or1r1 |
A |
T |
11: 73,875,347 (GRCm39) |
L29H |
probably damaging |
Het |
| Padi6 |
T |
C |
4: 140,463,147 (GRCm39) |
Y146C |
probably damaging |
Het |
| Pank4 |
C |
T |
4: 155,059,108 (GRCm39) |
R414W |
probably damaging |
Het |
| Pclo |
T |
G |
5: 14,571,296 (GRCm39) |
I227S |
probably benign |
Het |
| Plppr4 |
A |
G |
3: 117,121,915 (GRCm39) |
V221A |
possibly damaging |
Het |
| Pradc1 |
G |
A |
6: 85,425,568 (GRCm39) |
R25C |
probably damaging |
Het |
| Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
| Rnd2 |
A |
G |
11: 101,362,022 (GRCm39) |
T192A |
probably benign |
Het |
| Rtbdn |
A |
G |
8: 85,681,695 (GRCm39) |
E131G |
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,809,449 (GRCm39) |
V792A |
probably benign |
Het |
| Sacs |
G |
T |
14: 61,451,128 (GRCm39) |
Q4391H |
probably damaging |
Het |
| Scd2 |
A |
G |
19: 44,286,538 (GRCm39) |
S123G |
probably benign |
Het |
| Septin9 |
A |
G |
11: 117,181,421 (GRCm39) |
R74G |
probably damaging |
Het |
| Sipa1l2 |
T |
A |
8: 126,218,356 (GRCm39) |
Q327L |
probably damaging |
Het |
| Skor1 |
T |
C |
9: 63,053,505 (GRCm39) |
T127A |
probably damaging |
Het |
| Sphk2 |
A |
G |
7: 45,362,920 (GRCm39) |
V57A |
probably damaging |
Het |
| Tfec |
A |
T |
6: 16,844,243 (GRCm39) |
D101E |
probably damaging |
Het |
| Tmem43 |
T |
A |
6: 91,455,717 (GRCm39) |
H109Q |
probably benign |
Het |
| Tmem67 |
C |
A |
4: 12,047,814 (GRCm39) |
S839I |
probably damaging |
Het |
| Trpv5 |
T |
C |
6: 41,630,074 (GRCm39) |
Y672C |
probably damaging |
Het |
| Ttc39d |
A |
C |
17: 80,523,913 (GRCm39) |
S191R |
probably benign |
Het |
| Ttll1 |
C |
T |
15: 83,380,478 (GRCm39) |
V296M |
probably damaging |
Het |
| Upp2 |
A |
C |
2: 58,664,177 (GRCm39) |
K130T |
possibly damaging |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,640 (GRCm39) |
C780R |
probably damaging |
Het |
| Wars1 |
C |
A |
12: 108,841,635 (GRCm39) |
E171* |
probably null |
Het |
| Zeb2 |
A |
T |
2: 44,887,012 (GRCm39) |
S637T |
probably damaging |
Het |
| Zfp27 |
T |
A |
7: 29,595,549 (GRCm39) |
T139S |
possibly damaging |
Het |
| Zfp941 |
A |
T |
7: 140,392,033 (GRCm39) |
L442Q |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAACCCATTGCAAACAGTTTCC -3'
(R):5'- GTCCCAAGAAGGCTCTTCAGTCATC -3'
Sequencing Primer
(F):5'- GCAAACAGTTTCCTGCGAATG -3'
(R):5'- GTGGAATCTTTAGCAACAAATCAGG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation