Incidental Mutation 'R9162:Abcd2'
| ID |
695807 |
| 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 |
068943-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R9162 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
91030074-91076002 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 91058926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 506
(M506T)
|
| 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: M506T
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: M506T
| 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 |
|
| Meta Mutation Damage Score |
0.4857 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb8 |
A |
G |
5: 24,611,732 (GRCm39) |
D516G |
probably damaging |
Het |
| Abhd17a |
T |
C |
10: 80,422,577 (GRCm39) |
Y35C |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,311,721 (GRCm39) |
N1326S |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,414,645 (GRCm39) |
Y8H |
probably benign |
Het |
| Arsi |
T |
C |
18: 61,050,569 (GRCm39) |
V484A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,883 (GRCm39) |
D2623G |
unknown |
Het |
| Cul9 |
A |
C |
17: 46,837,529 (GRCm39) |
D1005E |
probably benign |
Het |
| Dchs1 |
A |
C |
7: 105,414,732 (GRCm39) |
V770G |
probably damaging |
Het |
| Dcst2 |
C |
A |
3: 89,274,088 (GRCm39) |
S213* |
probably null |
Het |
| Dnah11 |
C |
T |
12: 117,991,251 (GRCm39) |
E2372K |
probably damaging |
Het |
| Dysf |
C |
T |
6: 84,089,215 (GRCm39) |
T926I |
probably damaging |
Het |
| Ext1 |
G |
A |
15: 53,208,504 (GRCm39) |
R86* |
probably null |
Het |
| Fat1 |
T |
C |
8: 45,404,352 (GRCm39) |
F368L |
probably damaging |
Het |
| Flnc |
T |
C |
6: 29,455,860 (GRCm39) |
C2097R |
probably damaging |
Het |
| Git1 |
T |
A |
11: 77,396,331 (GRCm39) |
I565N |
probably benign |
Het |
| Gpr22 |
A |
G |
12: 31,758,724 (GRCm39) |
V466A |
probably benign |
Het |
| Hacd4 |
T |
A |
4: 88,338,017 (GRCm39) |
T194S |
probably benign |
Het |
| Hectd4 |
A |
G |
5: 121,445,042 (GRCm39) |
K93R |
possibly damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,972,450 (GRCm39) |
S478G |
possibly damaging |
Het |
| Kmt2a |
T |
C |
9: 44,759,363 (GRCm39) |
S829G |
probably benign |
Het |
| Lnp1 |
A |
T |
16: 56,737,844 (GRCm39) |
H81Q |
possibly damaging |
Het |
| Lrp1 |
C |
T |
10: 127,441,368 (GRCm39) |
A252T |
probably benign |
Het |
| Msl2 |
T |
C |
9: 100,978,928 (GRCm39) |
V434A |
probably benign |
Het |
| Myo1g |
T |
A |
11: 6,460,897 (GRCm39) |
I716F |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,958,927 (GRCm39) |
|
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,777,454 (GRCm39) |
Y53* |
probably null |
Het |
| Or5b12 |
A |
T |
19: 12,897,024 (GRCm39) |
Y216* |
probably null |
Het |
| Or7e175 |
A |
G |
9: 20,040,457 (GRCm39) |
I6V |
probably benign |
Het |
| Pappa |
T |
A |
4: 65,123,040 (GRCm39) |
S792T |
probably damaging |
Het |
| Pcdhb17 |
T |
C |
18: 37,620,168 (GRCm39) |
S653P |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,601,362 (GRCm39) |
K574R |
probably benign |
Het |
| Scyl3 |
C |
A |
1: 163,773,891 (GRCm39) |
Q372K |
probably benign |
Het |
| Sgsm1 |
A |
T |
5: 113,430,577 (GRCm39) |
D269E |
probably damaging |
Het |
| Siah2 |
C |
A |
3: 58,599,104 (GRCm39) |
G45C |
unknown |
Het |
| Slc4a11 |
T |
A |
2: 130,534,214 (GRCm39) |
D28V |
possibly damaging |
Het |
| Slco1a8 |
T |
A |
6: 141,939,453 (GRCm39) |
E200V |
probably damaging |
Het |
| Socs4 |
T |
A |
14: 47,528,301 (GRCm39) |
M412K |
probably damaging |
Het |
| Spata31e1 |
T |
G |
13: 49,939,310 (GRCm39) |
Q800P |
possibly damaging |
Het |
| Spef2 |
T |
G |
15: 9,602,017 (GRCm39) |
N1415T |
unknown |
Het |
| Stat6 |
A |
G |
10: 127,487,089 (GRCm39) |
K199E |
probably damaging |
Het |
| Syndig1l |
A |
G |
12: 84,727,291 (GRCm39) |
F91S |
probably damaging |
Het |
| Tank |
C |
A |
2: 61,480,432 (GRCm39) |
Q324K |
possibly damaging |
Het |
| Tars3 |
G |
A |
7: 65,332,518 (GRCm39) |
E540K |
probably benign |
Het |
| Tial1 |
A |
G |
7: 128,050,415 (GRCm39) |
V70A |
possibly damaging |
Het |
| Tmem87b |
C |
T |
2: 128,681,150 (GRCm39) |
T358I |
probably benign |
Het |
| Ttyh3 |
G |
A |
5: 140,621,820 (GRCm39) |
A42V |
possibly damaging |
Het |
| Xrn1 |
T |
C |
9: 95,915,660 (GRCm39) |
I1261T |
probably benign |
Het |
| Zfp229 |
T |
C |
17: 21,964,495 (GRCm39) |
S242P |
probably damaging |
Het |
| Zmym2 |
T |
A |
14: 57,163,361 (GRCm39) |
C638S |
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 |
|
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 |
|
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'- CATAACCCGAAGAGCCTGAG -3'
(R):5'- ATCTCAGTTGAAGTGTTGTAGAGTCAG -3'
Sequencing Primer
(F):5'- CCCGAAGAGCCTGAGAAACG -3'
(R):5'- GCTACTTTTAGCTTCAGAGAATAGTC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation