Incidental Mutation 'R7497:Abcd2'
ID |
581163 |
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 |
045570-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R7497 (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 A
at 91075379 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 145
(I145F)
|
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: I145F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000068940 Gene: ENSMUSG00000055782 AA Change: I145F
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: 99.9%
- 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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr2b |
T |
A |
9: 119,262,352 (GRCm39) |
V455E |
probably benign |
Het |
Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
Agap2 |
T |
C |
10: 126,926,834 (GRCm39) |
V977A |
probably damaging |
Het |
Aph1b |
A |
C |
9: 66,701,401 (GRCm39) |
S79A |
probably damaging |
Het |
Atm |
G |
A |
9: 53,423,191 (GRCm39) |
S645L |
probably benign |
Het |
Cdh11 |
T |
C |
8: 103,400,456 (GRCm39) |
R171G |
probably benign |
Het |
Ces2f |
T |
A |
8: 105,681,330 (GRCm39) |
D556E |
probably benign |
Het |
Cfap210 |
A |
C |
2: 69,588,792 (GRCm39) |
N439K |
probably benign |
Het |
Cyp26b1 |
C |
A |
6: 84,553,964 (GRCm39) |
V218L |
possibly damaging |
Het |
Diaph1 |
T |
C |
18: 38,028,353 (GRCm39) |
|
probably null |
Het |
Dock1 |
A |
G |
7: 134,367,003 (GRCm39) |
I482V |
probably benign |
Het |
Dok4 |
A |
T |
8: 95,594,053 (GRCm39) |
D47E |
possibly damaging |
Het |
Dqx1 |
T |
A |
6: 83,036,028 (GRCm39) |
L120Q |
probably damaging |
Het |
Duxf3 |
A |
T |
10: 58,066,558 (GRCm39) |
V157E |
probably damaging |
Het |
Efcab3 |
T |
C |
11: 104,653,516 (GRCm39) |
|
probably null |
Het |
Eif2a |
C |
A |
3: 58,456,102 (GRCm39) |
P367Q |
probably damaging |
Het |
Elp2 |
C |
T |
18: 24,744,985 (GRCm39) |
R102C |
probably damaging |
Het |
Erich2 |
T |
C |
2: 70,364,666 (GRCm39) |
S347P |
probably damaging |
Het |
Fgfr3 |
GGACCTCTCCGTG |
GG |
5: 33,892,766 (GRCm39) |
|
probably null |
Het |
Flacc1 |
T |
A |
1: 58,717,467 (GRCm39) |
D148V |
probably damaging |
Het |
Gadl1 |
A |
T |
9: 115,903,155 (GRCm39) |
I495L |
probably benign |
Het |
Gcnt4 |
A |
G |
13: 97,083,468 (GRCm39) |
T255A |
possibly damaging |
Het |
Gm10972 |
A |
G |
3: 94,550,887 (GRCm39) |
K21E |
unknown |
Het |
Gm57859 |
T |
A |
11: 113,583,223 (GRCm39) |
W517R |
probably damaging |
Het |
Gm7361 |
C |
A |
5: 26,466,188 (GRCm39) |
H183Q |
probably benign |
Het |
Gp2 |
C |
T |
7: 119,053,829 (GRCm39) |
C44Y |
probably damaging |
Het |
Hcar2 |
C |
T |
5: 124,003,249 (GRCm39) |
V85I |
probably benign |
Het |
Hira |
T |
C |
16: 18,770,829 (GRCm39) |
V822A |
probably damaging |
Het |
Ighv1-5 |
T |
A |
12: 114,477,156 (GRCm39) |
T49S |
probably damaging |
Het |
Ints1 |
C |
T |
5: 139,754,731 (GRCm39) |
V603M |
probably damaging |
Het |
Kdm2a |
A |
C |
19: 4,374,404 (GRCm39) |
L909R |
probably damaging |
Het |
Klkb1 |
T |
A |
8: 45,747,827 (GRCm39) |
|
probably benign |
Het |
Krit1 |
A |
G |
5: 3,862,349 (GRCm39) |
H168R |
possibly damaging |
Het |
Map3k21 |
A |
T |
8: 126,654,340 (GRCm39) |
E386D |
probably damaging |
Het |
Muc16 |
C |
T |
9: 18,556,385 (GRCm39) |
E3303K |
unknown |
Het |
Muc5b |
T |
G |
7: 141,415,250 (GRCm39) |
V2732G |
possibly damaging |
Het |
Myo5a |
T |
C |
9: 75,104,983 (GRCm39) |
L189P |
|
Het |
Nlrc5 |
T |
C |
8: 95,248,598 (GRCm39) |
L1740S |
probably damaging |
Het |
Nolc1 |
A |
G |
19: 46,071,257 (GRCm39) |
K402R |
probably benign |
Het |
Or4b1b |
T |
A |
2: 90,112,098 (GRCm39) |
T274S |
possibly damaging |
Het |
Or4k15 |
T |
A |
14: 50,364,952 (GRCm39) |
L306Q |
probably benign |
Het |
Or52s19 |
T |
C |
7: 103,008,219 (GRCm39) |
M61V |
probably damaging |
Het |
Or8u8 |
T |
C |
2: 86,012,417 (GRCm39) |
I13V |
probably benign |
Het |
Pnma8b |
A |
G |
7: 16,678,874 (GRCm39) |
|
probably benign |
Het |
Pnpt1 |
A |
T |
11: 29,080,860 (GRCm39) |
M35L |
probably benign |
Het |
Postn |
A |
G |
3: 54,270,091 (GRCm39) |
K57E |
probably damaging |
Het |
Ppp1r9a |
A |
C |
6: 4,905,775 (GRCm39) |
D110A |
probably damaging |
Het |
Pptc7 |
G |
A |
5: 122,422,942 (GRCm39) |
V71M |
possibly damaging |
Het |
Prdm11 |
T |
A |
2: 92,843,052 (GRCm39) |
I136F |
possibly damaging |
Het |
Rfc1 |
A |
G |
5: 65,436,841 (GRCm39) |
L613P |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,560,818 (GRCm39) |
D2981G |
probably benign |
Het |
Sbf2 |
C |
A |
7: 110,213,923 (GRCm39) |
E16* |
probably null |
Het |
Scara3 |
T |
C |
14: 66,168,651 (GRCm39) |
E322G |
probably damaging |
Het |
Sema5b |
T |
A |
16: 35,481,700 (GRCm39) |
C893S |
probably damaging |
Het |
Setdb1 |
T |
C |
3: 95,249,139 (GRCm39) |
D323G |
probably damaging |
Het |
Slc19a3 |
T |
C |
1: 82,991,649 (GRCm39) |
Y453C |
probably damaging |
Het |
Snx5 |
T |
C |
2: 144,099,894 (GRCm39) |
K137E |
probably damaging |
Het |
Taar8c |
G |
A |
10: 23,977,116 (GRCm39) |
T232I |
probably benign |
Het |
Taok2 |
G |
A |
7: 126,474,050 (GRCm39) |
T352I |
probably damaging |
Het |
Ttc3 |
C |
A |
16: 94,219,541 (GRCm39) |
R489S |
possibly damaging |
Het |
Usp12 |
A |
T |
5: 146,689,264 (GRCm39) |
|
probably null |
Het |
Usp16 |
T |
A |
16: 87,263,174 (GRCm39) |
C125* |
probably null |
Het |
Vmn2r106 |
C |
T |
17: 20,488,201 (GRCm39) |
E733K |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,876,843 (GRCm39) |
I2832K |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,747,761 (GRCm39) |
Y18C |
probably damaging |
Het |
Zfp160 |
T |
A |
17: 21,246,455 (GRCm39) |
I335K |
probably benign |
Het |
Zfp788 |
A |
T |
7: 41,298,275 (GRCm39) |
I304F |
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 |
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 |
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'- ACAGGTGAGCCACAGATTGC -3'
(R):5'- GCTACTAGAACTTCGGAAAATCC -3'
Sequencing Primer
(F):5'- GCGAGAACATCATAATGTCTTCGG -3'
(R):5'- CTAGAACTTCGGAAAATCCTCTTTC -3'
|
Posted On |
2019-10-17 |