Incidental Mutation 'R4872:Abcd2'
| ID |
376691 |
| 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 |
042482-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4872 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 91075514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 100
(V100L)
|
| 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: V100L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: V100L
| 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 |
0.0589 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (81/83) |
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
G |
A |
9: 103,963,465 (GRCm39) |
|
probably benign |
Het |
| Actb |
C |
T |
5: 142,891,307 (GRCm39) |
|
probably benign |
Het |
| Ano9 |
G |
A |
7: 140,687,117 (GRCm39) |
A374V |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,773,103 (GRCm39) |
|
probably null |
Het |
| Bltp3a |
G |
T |
17: 28,109,110 (GRCm39) |
D1110Y |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,155,551 (GRCm39) |
L350Q |
probably damaging |
Het |
| Cd27 |
T |
A |
6: 125,211,281 (GRCm39) |
|
probably null |
Het |
| Cd72 |
A |
G |
4: 43,449,563 (GRCm39) |
|
probably benign |
Het |
| Cdadc1 |
A |
T |
14: 59,801,973 (GRCm39) |
S516T |
probably benign |
Het |
| Chst5 |
T |
A |
8: 112,617,192 (GRCm39) |
I143F |
possibly damaging |
Het |
| Col20a1 |
T |
C |
2: 180,639,156 (GRCm39) |
V452A |
possibly damaging |
Het |
| Cox11 |
C |
A |
11: 90,535,229 (GRCm39) |
Q227K |
probably benign |
Het |
| Cpa6 |
A |
G |
1: 10,665,843 (GRCm39) |
|
probably null |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dpm2 |
T |
C |
2: 32,461,203 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
C |
A |
12: 110,624,560 (GRCm39) |
T3700N |
probably damaging |
Het |
| Frem1 |
A |
C |
4: 82,881,387 (GRCm39) |
N1273K |
probably damaging |
Het |
| Fry |
T |
C |
5: 150,317,704 (GRCm39) |
|
probably null |
Het |
| Gm10306 |
G |
T |
4: 94,445,069 (GRCm39) |
|
probably benign |
Het |
| Gm5565 |
T |
C |
5: 146,094,913 (GRCm39) |
T278A |
probably benign |
Het |
| Gm8180 |
A |
G |
14: 44,019,802 (GRCm39) |
I40T |
probably benign |
Het |
| Iah1 |
T |
C |
12: 21,367,426 (GRCm39) |
V44A |
probably benign |
Het |
| Iqgap3 |
C |
T |
3: 88,020,435 (GRCm39) |
P360S |
probably damaging |
Het |
| Klhl28 |
T |
A |
12: 65,003,896 (GRCm39) |
I206F |
possibly damaging |
Het |
| Krt13 |
A |
G |
11: 100,012,332 (GRCm39) |
|
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,726,914 (GRCm39) |
D41V |
probably benign |
Het |
| Lrig2 |
C |
G |
3: 104,398,842 (GRCm39) |
V229L |
possibly damaging |
Het |
| Lrrc32 |
C |
T |
7: 98,147,727 (GRCm39) |
T169I |
probably damaging |
Het |
| Lrriq1 |
T |
C |
10: 103,014,649 (GRCm39) |
N1053S |
possibly damaging |
Het |
| Mfng |
C |
T |
15: 78,648,588 (GRCm39) |
R163H |
probably benign |
Het |
| Mgat4c |
G |
C |
10: 102,224,599 (GRCm39) |
R271P |
probably damaging |
Het |
| Mylk |
A |
G |
16: 34,735,360 (GRCm39) |
N780S |
possibly damaging |
Het |
| N4bp1 |
T |
C |
8: 87,587,676 (GRCm39) |
T421A |
probably benign |
Het |
| Nat8f1 |
T |
C |
6: 85,887,295 (GRCm39) |
T222A |
probably benign |
Het |
| Nsun2 |
T |
C |
13: 69,691,992 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
T |
A |
5: 120,876,599 (GRCm39) |
D448V |
probably damaging |
Het |
| Or10al7 |
C |
A |
17: 38,366,467 (GRCm39) |
V6F |
probably benign |
Het |
| Or2l13b |
A |
T |
16: 19,349,383 (GRCm39) |
C96S |
probably damaging |
Het |
| Or5ak22 |
T |
C |
2: 85,230,772 (GRCm39) |
Y35C |
probably damaging |
Het |
| Pgm2l1 |
T |
A |
7: 99,877,204 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pigp |
A |
T |
16: 94,166,309 (GRCm39) |
V133D |
probably benign |
Het |
| Pnkp |
C |
T |
7: 44,511,827 (GRCm39) |
S113L |
probably damaging |
Het |
| Pomt2 |
C |
T |
12: 87,156,881 (GRCm39) |
D752N |
possibly damaging |
Het |
| Ppat |
T |
C |
5: 77,074,640 (GRCm39) |
K65E |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,125,314 (GRCm39) |
L616P |
probably damaging |
Het |
| Rad54l2 |
A |
G |
9: 106,595,091 (GRCm39) |
S289P |
probably damaging |
Het |
| Rbm39 |
G |
A |
2: 156,019,266 (GRCm39) |
R31C |
possibly damaging |
Het |
| Rhbdf2 |
C |
A |
11: 116,492,771 (GRCm39) |
V417L |
probably benign |
Het |
| Rnf157 |
T |
A |
11: 116,246,298 (GRCm39) |
E255D |
possibly damaging |
Het |
| Rpl6l |
A |
T |
10: 110,962,304 (GRCm39) |
|
noncoding transcript |
Het |
| Sec24c |
A |
G |
14: 20,743,813 (GRCm39) |
D1006G |
probably damaging |
Het |
| Sh3bp1 |
G |
T |
15: 78,792,237 (GRCm39) |
A401S |
probably benign |
Het |
| Slc17a8 |
A |
T |
10: 89,412,367 (GRCm39) |
D539E |
probably benign |
Het |
| Slc38a9 |
T |
A |
13: 112,826,098 (GRCm39) |
S136R |
probably damaging |
Het |
| Smoc2 |
A |
C |
17: 14,589,295 (GRCm39) |
T255P |
probably benign |
Het |
| Smyd2 |
T |
C |
1: 189,628,847 (GRCm39) |
D152G |
probably damaging |
Het |
| Stab1 |
A |
G |
14: 30,862,350 (GRCm39) |
V2328A |
probably damaging |
Het |
| Taar2 |
A |
G |
10: 23,816,591 (GRCm39) |
I44V |
probably benign |
Het |
| Tbc1d4 |
T |
C |
14: 101,682,144 (GRCm39) |
K1251E |
probably benign |
Het |
| Thada |
G |
A |
17: 84,754,027 (GRCm39) |
L315F |
probably damaging |
Het |
| Trbv14 |
T |
C |
6: 41,112,259 (GRCm39) |
S19P |
probably benign |
Het |
| Ttc39c |
T |
C |
18: 12,820,173 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
A |
G |
17: 80,524,527 (GRCm39) |
I395M |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,548,728 (GRCm39) |
E31891G |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 69,800,527 (GRCm39) |
V950A |
probably damaging |
Het |
| Usp9y |
T |
A |
Y: 1,307,920 (GRCm39) |
K2305N |
probably damaging |
Het |
| Vmn1r158 |
G |
A |
7: 22,490,179 (GRCm39) |
T10I |
possibly damaging |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r78 |
T |
A |
7: 86,603,916 (GRCm39) |
I698K |
possibly damaging |
Het |
| Vmn2r86 |
G |
T |
10: 130,289,460 (GRCm39) |
T145K |
probably damaging |
Het |
| Zfp51 |
T |
C |
17: 21,684,933 (GRCm39) |
V516A |
probably benign |
Het |
| Zfp654 |
A |
T |
16: 64,606,145 (GRCm39) |
S686T |
probably benign |
Het |
| Zfp846 |
T |
A |
9: 20,502,111 (GRCm39) |
C55S |
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 |
|
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 |
|
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'- TGCATTCCAGGTACCTGATAGC -3'
(R):5'- TCTATCCCATCATTGGCAAGCG -3'
Sequencing Primer
(F):5'- CAGGTACCTGATAGCACTGTTGAC -3'
(R):5'- CCCATCATTGGCAAGCGTTTAAAG -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation