Incidental Mutation 'R7212:Abcd2'
| ID |
561177 |
| 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 |
045340-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R7212 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 91043326 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 621
(A621T)
|
| 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: A621T
PolyPhen 2
Score 0.839 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: A621T
| 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 |
100% (70/70) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
C |
T |
6: 83,138,654 (GRCm39) |
A193V |
probably benign |
Het |
| Aatf |
C |
T |
11: 84,340,006 (GRCm39) |
R435Q |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,248,854 (GRCm39) |
H2867R |
probably benign |
Het |
| Actl11 |
T |
A |
9: 107,805,856 (GRCm39) |
S60T |
probably damaging |
Het |
| Adam28 |
T |
A |
14: 68,874,846 (GRCm39) |
N277I |
probably damaging |
Het |
| Adamts13 |
T |
A |
2: 26,896,326 (GRCm39) |
C1240S |
probably damaging |
Het |
| Arhgap27 |
C |
T |
11: 103,251,581 (GRCm39) |
R49Q |
probably damaging |
Het |
| Armc10 |
T |
C |
5: 21,865,581 (GRCm39) |
S209P |
probably damaging |
Het |
| Atp6v0a1 |
T |
C |
11: 100,934,783 (GRCm39) |
F617L |
probably benign |
Het |
| Bap1 |
T |
A |
14: 30,973,580 (GRCm39) |
N2K |
probably damaging |
Het |
| Bltp1 |
C |
A |
3: 37,102,158 (GRCm39) |
N1363K |
|
Het |
| Cass4 |
T |
A |
2: 172,269,106 (GRCm39) |
L396* |
probably null |
Het |
| Ccdc40 |
A |
G |
11: 119,155,270 (GRCm39) |
Q1170R |
probably damaging |
Het |
| Cdhr5 |
C |
T |
7: 140,852,572 (GRCm39) |
R348H |
probably damaging |
Het |
| Cenpj |
A |
G |
14: 56,790,109 (GRCm39) |
S647P |
probably benign |
Het |
| Chordc1 |
T |
A |
9: 18,206,647 (GRCm39) |
|
probably null |
Het |
| Chordc1 |
T |
C |
9: 18,212,308 (GRCm39) |
S41P |
probably damaging |
Het |
| Ckm |
T |
C |
7: 19,148,978 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
A |
C |
3: 144,711,727 (GRCm39) |
I756S |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,268,323 (GRCm39) |
V165A |
possibly damaging |
Het |
| Clec4a4 |
T |
A |
6: 122,968,704 (GRCm39) |
|
probably null |
Het |
| Cog7 |
T |
C |
7: 121,576,537 (GRCm39) |
K130E |
probably damaging |
Het |
| Coq7 |
A |
G |
7: 118,109,271 (GRCm39) |
I259T |
unknown |
Het |
| Cp |
T |
C |
3: 20,029,130 (GRCm39) |
S536P |
probably damaging |
Het |
| Cyp2d10 |
T |
A |
15: 82,288,447 (GRCm39) |
|
probably null |
Het |
| Dcst2 |
A |
G |
3: 89,273,607 (GRCm39) |
I162V |
probably benign |
Het |
| Dennd4c |
A |
G |
4: 86,721,228 (GRCm39) |
E630G |
probably damaging |
Het |
| Dpt |
A |
T |
1: 164,624,484 (GRCm39) |
I62F |
probably benign |
Het |
| Ednrb |
T |
A |
14: 104,080,444 (GRCm39) |
I157F |
probably damaging |
Het |
| Ext1 |
A |
T |
15: 53,208,558 (GRCm39) |
W68R |
probably benign |
Het |
| Fgf4 |
A |
G |
7: 144,416,523 (GRCm39) |
K152E |
probably benign |
Het |
| G530012D18Rik |
A |
T |
1: 85,504,864 (GRCm39) |
T90S |
unknown |
Het |
| Galnt17 |
T |
C |
5: 130,992,949 (GRCm39) |
T322A |
possibly damaging |
Het |
| Gcm1 |
A |
T |
9: 77,966,925 (GRCm39) |
D48V |
possibly damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gm49358 |
G |
T |
10: 86,661,071 (GRCm39) |
R353L |
probably damaging |
Het |
| Golga4 |
A |
G |
9: 118,365,908 (GRCm39) |
E320G |
possibly damaging |
Het |
| Herc3 |
T |
C |
6: 58,895,758 (GRCm39) |
I1002T |
probably damaging |
Het |
| Hip1r |
T |
A |
5: 124,111,845 (GRCm39) |
V7E |
possibly damaging |
Het |
| Hipk1 |
G |
A |
3: 103,684,926 (GRCm39) |
Q230* |
probably null |
Het |
| Igsf9b |
C |
T |
9: 27,242,992 (GRCm39) |
P726L |
probably damaging |
Het |
| Itgb6 |
T |
C |
2: 60,464,998 (GRCm39) |
I345V |
probably damaging |
Het |
| Lhx4 |
G |
T |
1: 155,600,699 (GRCm39) |
Q29K |
probably benign |
Het |
| Manba |
A |
G |
3: 135,273,396 (GRCm39) |
T777A |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,337,145 (GRCm39) |
D1360G |
probably benign |
Het |
| Meltf |
T |
A |
16: 31,709,632 (GRCm39) |
|
probably null |
Het |
| Mmp14 |
T |
G |
14: 54,673,336 (GRCm39) |
D81E |
probably damaging |
Het |
| Naalad2 |
T |
C |
9: 18,275,337 (GRCm39) |
|
probably null |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Or7a38 |
A |
T |
10: 78,753,339 (GRCm39) |
I222L |
possibly damaging |
Het |
| Or8b35 |
T |
A |
9: 37,904,253 (GRCm39) |
M150K |
possibly damaging |
Het |
| Pacs2 |
A |
G |
12: 113,025,312 (GRCm39) |
D488G |
possibly damaging |
Het |
| Prr5 |
T |
G |
15: 84,629,993 (GRCm39) |
L108R |
probably null |
Het |
| Psg23 |
A |
G |
7: 18,341,064 (GRCm39) |
S397P |
probably benign |
Het |
| Rfpl4 |
C |
A |
7: 5,113,659 (GRCm39) |
R174L |
probably damaging |
Het |
| Runx3 |
T |
A |
4: 134,880,090 (GRCm39) |
I3N |
probably damaging |
Het |
| Scn5a |
A |
T |
9: 119,372,451 (GRCm39) |
N214K |
possibly damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,037,092 (GRCm39) |
I412T |
probably damaging |
Het |
| Sptbn4 |
T |
G |
7: 27,116,210 (GRCm39) |
T530P |
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,060,854 (GRCm39) |
R95* |
probably null |
Het |
| Tex15 |
T |
C |
8: 34,063,023 (GRCm39) |
S818P |
probably damaging |
Het |
| Tmod1 |
A |
T |
4: 46,093,951 (GRCm39) |
K221* |
probably null |
Het |
| Tpm3 |
G |
A |
3: 89,998,361 (GRCm39) |
D272N |
probably benign |
Het |
| Trpm6 |
T |
C |
19: 18,831,155 (GRCm39) |
V1340A |
probably benign |
Het |
| Ugt2b5 |
A |
T |
5: 87,273,131 (GRCm39) |
C512S |
probably benign |
Het |
| Vmn2r82 |
A |
T |
10: 79,215,268 (GRCm39) |
E417V |
probably benign |
Het |
| Wfdc11 |
T |
C |
2: 164,506,366 (GRCm39) |
N60S |
probably benign |
Het |
| Zfp217 |
A |
T |
2: 169,956,072 (GRCm39) |
S975R |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,309 (GRCm39) |
Q287* |
probably null |
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 |
|
|
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'- ACTTGTATGTATGCGTGTGAAC -3'
(R):5'- ATAGTCCAGCAATCTCTCGTG -3'
Sequencing Primer
(F):5'- GTTTGAGCACTTGCACCACG -3'
(R):5'- CAGCAATCTCTCGTGCAGAATAGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation