Incidental Mutation 'R9286:Abcd2'
| ID |
703942 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.095)
|
| Stock # |
R9286 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to C
at 91058827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Arginine
at position 539
(P539R)
|
| 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: P539R
PolyPhen 2
Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: P539R
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl3 |
A |
T |
5: 81,794,413 (GRCm39) |
D478V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,594,520 (GRCm39) |
Y4165N |
probably damaging |
Het |
| Ago2 |
A |
G |
15: 72,997,065 (GRCm39) |
L326P |
probably damaging |
Het |
| Akap6 |
A |
C |
12: 53,119,254 (GRCm39) |
K1107T |
possibly damaging |
Het |
| Ank2 |
C |
T |
3: 126,846,381 (GRCm39) |
A205T |
probably damaging |
Het |
| Ankrd27 |
T |
C |
7: 35,326,869 (GRCm39) |
V738A |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,480,150 (GRCm39) |
K291R |
probably benign |
Het |
| Cacna1e |
G |
T |
1: 154,288,845 (GRCm39) |
P1847T |
probably damaging |
Het |
| Cdh23 |
G |
A |
10: 60,143,306 (GRCm39) |
A3005V |
possibly damaging |
Het |
| Cps1 |
T |
G |
1: 67,198,030 (GRCm39) |
M365R |
probably damaging |
Het |
| Ctc1 |
T |
G |
11: 68,917,180 (GRCm39) |
|
probably null |
Het |
| Cyp2b10 |
G |
T |
7: 25,616,391 (GRCm39) |
G333C |
probably damaging |
Het |
| Cyp2d12 |
A |
G |
15: 82,443,403 (GRCm39) |
E455G |
probably damaging |
Het |
| Daam2 |
A |
T |
17: 49,786,922 (GRCm39) |
D539E |
possibly damaging |
Het |
| Dip2a |
T |
A |
10: 76,138,096 (GRCm39) |
Y370F |
probably benign |
Het |
| Dok5 |
G |
A |
2: 170,672,099 (GRCm39) |
E134K |
possibly damaging |
Het |
| Dync2h1 |
C |
T |
9: 6,941,668 (GRCm39) |
A4164T |
probably benign |
Het |
| Ecm2 |
A |
G |
13: 49,683,696 (GRCm39) |
Y558C |
|
Het |
| Eif3b |
A |
G |
5: 140,411,064 (GRCm39) |
I172V |
probably benign |
Het |
| Flnb |
T |
C |
14: 7,873,414 (GRCm38) |
F237L |
probably damaging |
Het |
| Gdpd4 |
A |
G |
7: 97,647,639 (GRCm39) |
I429V |
probably damaging |
Het |
| Grik1 |
T |
C |
16: 87,848,315 (GRCm39) |
Y151C |
|
Het |
| Gys2 |
C |
A |
6: 142,376,037 (GRCm39) |
V542L |
possibly damaging |
Het |
| Hmx1 |
A |
G |
5: 35,546,776 (GRCm39) |
T106A |
probably benign |
Het |
| Il1rap |
T |
C |
16: 26,517,604 (GRCm39) |
V268A |
possibly damaging |
Het |
| Kansl3 |
T |
C |
1: 36,387,720 (GRCm39) |
T543A |
probably benign |
Het |
| Kcnk1 |
T |
A |
8: 126,752,148 (GRCm39) |
|
probably null |
Het |
| Larp7 |
CCTTCTT |
CCTT |
3: 127,340,008 (GRCm39) |
|
probably benign |
Het |
| Llgl2 |
T |
C |
11: 115,740,844 (GRCm39) |
F449L |
probably damaging |
Het |
| Lmod2 |
A |
G |
6: 24,603,712 (GRCm39) |
E229G |
probably damaging |
Het |
| Loxl4 |
A |
T |
19: 42,586,047 (GRCm39) |
V699E |
possibly damaging |
Het |
| Miga2 |
A |
G |
2: 30,273,609 (GRCm39) |
D489G |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,060,573 (GRCm39) |
H748L |
probably benign |
Het |
| Nudcd2 |
T |
A |
11: 40,627,403 (GRCm39) |
Y108N |
probably damaging |
Het |
| Or10g1 |
G |
A |
14: 52,648,075 (GRCm39) |
R85* |
probably null |
Het |
| Or52b2 |
A |
C |
7: 104,985,971 (GRCm39) |
C317W |
probably damaging |
Het |
| Or5b120 |
T |
A |
19: 13,479,791 (GRCm39) |
I28N |
possibly damaging |
Het |
| Pcdhb17 |
T |
A |
18: 37,619,422 (GRCm39) |
V404E |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,607,183 (GRCm39) |
D2084G |
probably damaging |
Het |
| Phf20 |
A |
T |
2: 156,134,470 (GRCm39) |
K552M |
probably damaging |
Het |
| Plcg2 |
A |
G |
8: 118,331,976 (GRCm39) |
D854G |
probably benign |
Het |
| Psen1 |
A |
G |
12: 83,775,549 (GRCm39) |
N316D |
probably benign |
Het |
| Rabgap1l |
G |
A |
1: 160,051,818 (GRCm39) |
Q361* |
probably null |
Het |
| Ralb |
A |
T |
1: 119,399,544 (GRCm39) |
D171E |
probably benign |
Het |
| Rev3l |
T |
C |
10: 39,682,947 (GRCm39) |
I355T |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,995,849 (GRCm39) |
K211E |
probably benign |
Het |
| Scg2 |
A |
G |
1: 79,413,653 (GRCm39) |
S357P |
probably damaging |
Het |
| Sh2b1 |
TGGGGACCAGCTCAGCCACGGGGACCAGCTC |
TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC |
7: 126,066,742 (GRCm39) |
|
probably benign |
Het |
| Slc17a5 |
A |
T |
9: 78,445,566 (GRCm39) |
W456R |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,191,932 (GRCm39) |
D967E |
probably damaging |
Het |
| Spryd3 |
A |
T |
15: 102,041,869 (GRCm39) |
V51E |
possibly damaging |
Het |
| Tgfbi |
A |
G |
13: 56,773,563 (GRCm39) |
H187R |
probably damaging |
Het |
| Tmc3 |
A |
G |
7: 83,252,643 (GRCm39) |
E348G |
probably damaging |
Het |
| Tmem45a2 |
A |
G |
16: 56,867,332 (GRCm39) |
I123T |
probably damaging |
Het |
| Tonsl |
G |
A |
15: 76,515,213 (GRCm39) |
H1058Y |
probably damaging |
Het |
| Trav13d-1 |
A |
G |
14: 53,089,050 (GRCm39) |
K20E |
probably benign |
Het |
| Trpm2 |
C |
A |
10: 77,777,014 (GRCm39) |
V428L |
probably benign |
Het |
| Usp25 |
A |
G |
16: 76,904,864 (GRCm39) |
Y810C |
probably damaging |
Het |
| Vmn1r40 |
T |
A |
6: 89,692,079 (GRCm39) |
F299I |
probably benign |
Het |
| Vmn2r18 |
A |
G |
5: 151,499,175 (GRCm39) |
F430L |
probably benign |
Het |
| Vps13c |
G |
A |
9: 67,880,203 (GRCm39) |
V3462I |
probably benign |
Het |
| Zfp955b |
T |
C |
17: 33,521,683 (GRCm39) |
I384T |
probably benign |
Het |
| Zmym4 |
T |
C |
4: 126,783,812 (GRCm39) |
D1138G |
probably 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 |
|
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 |
|
R9467:Abcd2
|
UTSW |
15 |
91,075,825 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATGGAATAGCTCAACCTTATCTCC -3'
(R):5'- CTTTCCTACCCAAGATTATCGTATG -3'
Sequencing Primer
(F):5'- ATCTCCACACCAGTTTCTCTAAATG -3'
(R):5'- ACCCAAGATTATCGTATGATTGAATG -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation