Incidental Mutation 'R6177:Abcd2'
| ID |
487844 |
| 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 |
044319-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6177 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 91074896 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 306
(I306V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068940
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069511]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069511
AA Change: I306V
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: I306V
| 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
|
| Meta Mutation Damage Score |
0.4705 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.7%
|
| Validation Efficiency |
100% (65/65) |
| 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 |
|---|
| Actrt3 |
A |
T |
3: 30,652,316 (GRCm39) |
Y259* |
probably null |
Het |
| Ankfy1 |
G |
A |
11: 72,645,285 (GRCm39) |
C788Y |
probably benign |
Het |
| Ano1 |
T |
A |
7: 144,232,478 (GRCm39) |
M25L |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,469,987 (GRCm39) |
D63E |
possibly damaging |
Het |
| Atp6v1c1 |
C |
A |
15: 38,674,172 (GRCm39) |
S55* |
probably null |
Het |
| C1s2 |
T |
G |
6: 124,606,960 (GRCm39) |
D296A |
probably damaging |
Het |
| Cabs1 |
C |
T |
5: 88,127,613 (GRCm39) |
T88I |
possibly damaging |
Het |
| Cadm4 |
G |
A |
7: 24,202,186 (GRCm39) |
V342M |
possibly damaging |
Het |
| Cat |
T |
C |
2: 103,303,420 (GRCm39) |
E119G |
probably damaging |
Het |
| Cavin2 |
G |
T |
1: 51,328,654 (GRCm39) |
S37I |
probably damaging |
Het |
| Cdhr18 |
T |
C |
14: 13,868,002 (GRCm38) |
D229G |
probably benign |
Het |
| Cdk5rap2 |
G |
A |
4: 70,199,719 (GRCm39) |
R802C |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,751,897 (GRCm39) |
|
probably benign |
Het |
| Dhx57 |
T |
C |
17: 80,580,395 (GRCm39) |
N519S |
possibly damaging |
Het |
| Dpep2 |
T |
C |
8: 106,712,831 (GRCm39) |
D260G |
probably damaging |
Het |
| Edem1 |
T |
A |
6: 108,828,159 (GRCm39) |
|
probably null |
Het |
| Epb41l4a |
A |
T |
18: 33,931,868 (GRCm39) |
|
probably null |
Het |
| Esp1 |
T |
C |
17: 41,039,723 (GRCm39) |
S3P |
possibly damaging |
Het |
| Fam111a |
A |
G |
19: 12,564,746 (GRCm39) |
Y165C |
probably damaging |
Het |
| Fstl4 |
A |
G |
11: 53,059,031 (GRCm39) |
T497A |
probably benign |
Het |
| Gstcd |
T |
C |
3: 132,787,834 (GRCm39) |
D288G |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,310,118 (GRCm39) |
L3264* |
probably null |
Het |
| Hyal4 |
T |
A |
6: 24,766,089 (GRCm39) |
L481* |
probably null |
Het |
| Ighv2-7 |
A |
G |
12: 113,771,055 (GRCm39) |
Y77H |
possibly damaging |
Het |
| Jdp2 |
G |
T |
12: 85,685,614 (GRCm39) |
R125L |
probably benign |
Het |
| Lrp1b |
A |
T |
2: 41,013,748 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
AC |
A |
2: 69,340,763 (GRCm39) |
|
probably null |
Het |
| Marveld2 |
C |
T |
13: 100,733,886 (GRCm39) |
D250N |
probably damaging |
Het |
| Mast3 |
A |
G |
8: 71,242,662 (GRCm39) |
S53P |
probably damaging |
Het |
| Ms4a20 |
A |
G |
19: 11,083,114 (GRCm39) |
I102T |
possibly damaging |
Het |
| Myo3b |
T |
C |
2: 70,143,707 (GRCm39) |
V1041A |
probably benign |
Het |
| Nkpd1 |
T |
A |
7: 19,257,009 (GRCm39) |
F113I |
probably damaging |
Het |
| Obscn |
A |
G |
11: 58,923,490 (GRCm39) |
S6470P |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or4a73 |
T |
C |
2: 89,420,661 (GRCm39) |
D266G |
possibly damaging |
Het |
| Or9g4b |
C |
T |
2: 85,616,004 (GRCm39) |
R50C |
probably damaging |
Het |
| Pdcd11 |
G |
T |
19: 47,108,722 (GRCm39) |
G1246V |
probably damaging |
Het |
| Phc3 |
A |
T |
3: 30,996,714 (GRCm39) |
S219T |
probably damaging |
Het |
| Plxnb1 |
C |
T |
9: 108,931,993 (GRCm39) |
|
probably null |
Het |
| Polh |
T |
C |
17: 46,495,670 (GRCm39) |
D276G |
possibly damaging |
Het |
| Polq |
T |
A |
16: 36,892,071 (GRCm39) |
V1991E |
probably damaging |
Het |
| Polr2g |
G |
A |
19: 8,771,541 (GRCm39) |
R144C |
probably damaging |
Het |
| Pramel16 |
G |
A |
4: 143,675,576 (GRCm39) |
H417Y |
possibly damaging |
Het |
| Prex2 |
A |
C |
1: 11,207,001 (GRCm39) |
T520P |
possibly damaging |
Het |
| Psg21 |
T |
A |
7: 18,386,279 (GRCm39) |
T236S |
possibly damaging |
Het |
| Ptpru |
A |
T |
4: 131,520,836 (GRCm39) |
S761R |
probably benign |
Het |
| Rapgef6 |
G |
A |
11: 54,510,842 (GRCm39) |
R253Q |
probably damaging |
Het |
| Rc3h2 |
C |
T |
2: 37,279,658 (GRCm39) |
V524I |
probably benign |
Het |
| Sde2 |
T |
C |
1: 180,685,784 (GRCm39) |
V112A |
probably damaging |
Het |
| Septin7 |
T |
C |
9: 25,205,100 (GRCm39) |
|
probably null |
Het |
| Spef2 |
A |
G |
15: 9,727,618 (GRCm39) |
V155A |
possibly damaging |
Het |
| St7 |
T |
C |
6: 17,819,333 (GRCm39) |
|
probably null |
Het |
| Tmcc3 |
A |
T |
10: 94,418,249 (GRCm39) |
Y339F |
probably damaging |
Het |
| Tmed6 |
T |
C |
8: 107,792,083 (GRCm39) |
E54G |
probably damaging |
Het |
| Tnks1bp1 |
C |
T |
2: 84,889,624 (GRCm39) |
|
probably benign |
Het |
| Trim43c |
T |
C |
9: 88,722,600 (GRCm39) |
L82P |
possibly damaging |
Het |
| Txndc2 |
T |
C |
17: 65,945,466 (GRCm39) |
D237G |
probably benign |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,404 (GRCm39) |
C108S |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,390,836 (GRCm39) |
D165V |
probably damaging |
Het |
| Wdr3 |
A |
T |
3: 100,068,468 (GRCm39) |
S13R |
probably damaging |
Het |
| Zdhhc16 |
A |
G |
19: 41,926,198 (GRCm39) |
Y31C |
probably benign |
Het |
| Zfp39 |
A |
T |
11: 58,781,887 (GRCm39) |
W292R |
probably benign |
Het |
| Zfp612 |
A |
T |
8: 110,816,606 (GRCm39) |
L604F |
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 |
|
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'- TGGCGATTTAAAGGGCTCATG -3'
(R):5'- ACAGCTACATCCAGAGGAGC -3'
Sequencing Primer
(F):5'- TAGCATGATTTAGCTACGGGGAC -3'
(R):5'- TCCAGAGGAGCAAGCCCTATAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation