Incidental Mutation 'R6143:Abcd2'
| ID |
488706 |
| 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 |
044290-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6143 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 91075150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 221
(V221E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069511]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069511
AA Change: V221E
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: V221E
| 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: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.1%
|
| Validation Efficiency |
98% (62/63) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730061H03Rik |
A |
G |
14: 55,797,736 (GRCm39) |
|
probably benign |
Het |
| Arhgap39 |
T |
A |
15: 76,614,606 (GRCm39) |
K853* |
probably null |
Het |
| Art2a |
T |
C |
7: 101,204,430 (GRCm39) |
D36G |
possibly damaging |
Het |
| Atp13a1 |
C |
T |
8: 70,258,010 (GRCm39) |
P922S |
probably benign |
Het |
| Brwd1 |
C |
T |
16: 95,804,156 (GRCm39) |
G2005R |
probably benign |
Het |
| Bzw2 |
A |
T |
12: 36,170,725 (GRCm39) |
M133K |
probably benign |
Het |
| Cacna1s |
T |
G |
1: 136,004,496 (GRCm39) |
S346A |
probably damaging |
Het |
| Cebpb |
C |
A |
2: 167,531,220 (GRCm39) |
D93E |
probably benign |
Het |
| Cep162 |
C |
A |
9: 87,094,904 (GRCm39) |
|
probably null |
Het |
| Col9a2 |
A |
T |
4: 120,911,060 (GRCm39) |
Y565F |
probably damaging |
Het |
| Csgalnact1 |
T |
A |
8: 68,826,202 (GRCm39) |
N372I |
probably damaging |
Het |
| Csmd1 |
T |
C |
8: 16,138,315 (GRCm39) |
D1579G |
probably damaging |
Het |
| Cyfip2 |
A |
C |
11: 46,144,792 (GRCm39) |
Y687* |
probably null |
Het |
| Cyp2d34 |
G |
A |
15: 82,504,977 (GRCm39) |
R28W |
probably benign |
Het |
| Dbndd2 |
C |
A |
2: 164,330,206 (GRCm39) |
Q13K |
probably damaging |
Het |
| Dnah5 |
T |
A |
15: 28,233,377 (GRCm39) |
S245R |
probably benign |
Het |
| Dnajb5 |
A |
T |
4: 42,956,990 (GRCm39) |
T226S |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,838,430 (GRCm39) |
E211G |
probably benign |
Het |
| Dnpep |
G |
A |
1: 75,291,872 (GRCm39) |
H214Y |
probably damaging |
Het |
| Drc3 |
G |
A |
11: 60,261,406 (GRCm39) |
V186M |
possibly damaging |
Het |
| Dvl3 |
A |
G |
16: 20,345,789 (GRCm39) |
D413G |
possibly damaging |
Het |
| Dyrk4 |
C |
T |
6: 126,863,614 (GRCm39) |
|
probably null |
Het |
| Edc4 |
T |
A |
8: 106,612,506 (GRCm39) |
D181E |
probably damaging |
Het |
| Enthd1 |
T |
C |
15: 80,393,487 (GRCm39) |
Y247C |
possibly damaging |
Het |
| Gm5622 |
A |
T |
14: 51,892,372 (GRCm39) |
R50S |
possibly damaging |
Het |
| Gpbp1 |
G |
A |
13: 111,603,389 (GRCm39) |
T20I |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,184,410 (GRCm39) |
Y276* |
probably null |
Het |
| Hsd3b7 |
A |
C |
7: 127,400,404 (GRCm39) |
E51A |
probably damaging |
Het |
| Ighv5-16 |
G |
T |
12: 113,802,238 (GRCm39) |
F87L |
probably damaging |
Het |
| Iqsec1 |
C |
T |
6: 90,786,666 (GRCm39) |
|
probably null |
Het |
| Irgm2 |
A |
T |
11: 58,111,435 (GRCm39) |
E387D |
possibly damaging |
Het |
| Klhl23 |
C |
A |
2: 69,664,040 (GRCm39) |
P463Q |
possibly damaging |
Het |
| Mast4 |
A |
T |
13: 102,990,391 (GRCm39) |
N43K |
probably damaging |
Het |
| Mme |
T |
G |
3: 63,207,532 (GRCm39) |
|
probably null |
Het |
| Mrps31 |
T |
G |
8: 22,901,539 (GRCm39) |
S20A |
probably benign |
Het |
| Myo5c |
A |
G |
9: 75,157,091 (GRCm39) |
R176G |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,330,347 (GRCm39) |
V291A |
possibly damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,290,466 (GRCm39) |
H1021L |
possibly damaging |
Het |
| Ncaph2 |
T |
C |
15: 89,248,206 (GRCm39) |
|
probably null |
Het |
| Neurod4 |
T |
G |
10: 130,106,869 (GRCm39) |
Y135S |
probably damaging |
Het |
| Nrp2 |
A |
T |
1: 62,799,974 (GRCm39) |
N396I |
probably damaging |
Het |
| Nvl |
T |
G |
1: 180,962,560 (GRCm39) |
T137P |
probably benign |
Het |
| Or5p59 |
A |
G |
7: 107,703,335 (GRCm39) |
D273G |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pcdhgc4 |
T |
A |
18: 37,950,653 (GRCm39) |
S690T |
possibly damaging |
Het |
| Pck1 |
A |
T |
2: 172,995,805 (GRCm39) |
D101V |
probably damaging |
Het |
| Pdilt |
T |
A |
7: 119,094,265 (GRCm39) |
N329Y |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,825,447 (GRCm39) |
R648W |
probably damaging |
Het |
| Prtn3 |
T |
A |
10: 79,716,382 (GRCm39) |
I63N |
probably damaging |
Het |
| Psg22 |
C |
T |
7: 18,456,723 (GRCm39) |
A163V |
probably benign |
Het |
| Pten |
A |
G |
19: 32,777,485 (GRCm39) |
T160A |
possibly damaging |
Het |
| Retreg2 |
A |
G |
1: 75,123,530 (GRCm39) |
D449G |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,317,868 (GRCm39) |
Y1531C |
probably benign |
Het |
| Sgk2 |
T |
A |
2: 162,841,174 (GRCm39) |
C195S |
probably damaging |
Het |
| Slc19a3 |
C |
T |
1: 83,004,060 (GRCm39) |
V14I |
probably benign |
Het |
| Snai2 |
A |
T |
16: 14,526,107 (GRCm39) |
R253* |
probably null |
Het |
| Speg |
G |
A |
1: 75,391,031 (GRCm39) |
V1512I |
probably damaging |
Het |
| Srsf1 |
G |
A |
11: 87,940,425 (GRCm39) |
|
probably benign |
Het |
| Tctn3 |
G |
T |
19: 40,597,671 (GRCm39) |
T190N |
probably benign |
Het |
| Tmprss11f |
T |
A |
5: 86,687,558 (GRCm39) |
I117L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,682,413 (GRCm39) |
R959* |
probably null |
Het |
| Vmn2r118 |
G |
T |
17: 55,899,871 (GRCm39) |
L678I |
possibly damaging |
Het |
| Vps13b |
T |
C |
15: 35,668,884 (GRCm39) |
S1594P |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,135 (GRCm39) |
H1791N |
possibly 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 |
|
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 |
|
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'- ATGATTCGGGAGTGGACATACC -3'
(R):5'- ACCTGGAATGCAAACTGGC -3'
Sequencing Primer
(F):5'- CAGGTAGCCTTTCCTGTGG -3'
(R):5'- GCATTGGCCTTTAGAACTCG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation