Mutagenetix > Incidental Mutation

Incidental Mutation 'R1510:Abcd2'

167885

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

039557-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.104) question?

Stock #

R1510 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

91030074-91076002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 91073181 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 326 (L326S)

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: L326S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: L326S

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

0.9563

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (79/79)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam18	T	A	8: 25,115,847 (GRCm39)	T616S	probably benign	Het
Adam22	T	C	5: 8,202,408 (GRCm39)	K215E	probably benign	Het
Ahi1	T	G	10: 20,835,699 (GRCm39)	S11A	probably benign	Het
Asb18	T	C	1: 89,923,976 (GRCm39)	M96V	possibly damaging	Het
Baz2b	T	C	2: 59,752,553 (GRCm39)	D1149G	probably damaging	Het
C1qtnf3	A	G	15: 10,975,722 (GRCm39)	E176G	probably benign	Het
Cd151	T	A	7: 141,050,280 (GRCm39)	S172T	probably benign	Het
Cdh2	G	T	18: 16,781,651 (GRCm39)	L90I	probably benign	Het
Cdkl3	T	C	11: 51,924,341 (GRCm39)	V55A	possibly damaging	Het
Cfap90	T	A	13: 68,745,596 (GRCm39)	M1K	probably null	Het
Chst8	T	A	7: 34,374,693 (GRCm39)	H382L	probably benign	Het
Cyb5r4	T	C	9: 86,948,696 (GRCm39)		probably benign	Het
Cyp2j13	T	C	4: 95,950,209 (GRCm39)	D264G	possibly damaging	Het
Daam1	A	G	12: 72,024,500 (GRCm39)	M814V	probably damaging	Het
Ddx19b	A	G	8: 111,742,285 (GRCm39)	I150T	probably damaging	Het
Dync1li1	T	G	9: 114,518,278 (GRCm39)	S50A	possibly damaging	Het
Fat3	A	T	9: 15,871,351 (GRCm39)	L3680Q	probably damaging	Het
Fermt1	C	T	2: 132,766,942 (GRCm39)	E342K	probably benign	Het
Gm21286	T	G	4: 60,794,931 (GRCm39)		noncoding transcript	Het
Il6	T	C	5: 30,223,060 (GRCm39)	Y126H	probably damaging	Het
Inhba	G	T	13: 16,201,607 (GRCm39)	V390L	probably damaging	Het
Ino80	C	T	2: 119,280,530 (GRCm39)	R278H	probably damaging	Het
Jade3	T	G	X: 20,384,057 (GRCm39)	N799K	probably benign	Het
Kcnn1	G	A	8: 71,316,714 (GRCm39)		probably benign	Het
Klhl6	T	C	16: 19,765,848 (GRCm39)	T585A	probably damaging	Het
Kmt2d	T	A	15: 98,754,258 (GRCm39)		probably benign	Het
Krt17	C	T	11: 100,148,365 (GRCm39)	E359K	possibly damaging	Het
Lce1b	T	G	3: 92,563,283 (GRCm39)	R83S	unknown	Het
Lck	T	C	4: 129,449,461 (GRCm39)	S290G	possibly damaging	Het
Ltbp3	T	C	19: 5,798,915 (GRCm39)	S544P	probably benign	Het
Lypd6b	T	A	2: 49,824,831 (GRCm39)	S4R	probably damaging	Het
Macf1	T	C	4: 123,328,555 (GRCm39)	D4724G	probably null	Het
Mcoln2	A	G	3: 145,882,365 (GRCm39)	T255A	probably benign	Het
Mcph1	T	A	8: 18,682,703 (GRCm39)		probably null	Het
Mki67	C	A	7: 135,297,900 (GRCm39)	R2378L	probably benign	Het
Mxd1	A	G	6: 86,630,137 (GRCm39)	V27A	possibly damaging	Het
Myo5a	T	C	9: 75,078,833 (GRCm39)	Y864H	probably benign	Het
Ndel1	A	T	11: 68,713,482 (GRCm39)	N318K	possibly damaging	Het
Oasl1	A	G	5: 115,066,167 (GRCm39)	Q95R	probably benign	Het
Or5ac16	A	T	16: 59,022,546 (GRCm39)	M81K	probably damaging	Het
Or5j3	T	C	2: 86,128,715 (GRCm39)	L185P	probably damaging	Het
Or5p57	T	C	7: 107,665,735 (GRCm39)	Y60C	probably damaging	Het
Or6b2b	A	T	1: 92,419,339 (GRCm39)	I46N	probably damaging	Het
Parp10	T	A	15: 76,125,617 (GRCm39)	Q487L	probably damaging	Het
Pcdh10	C	T	3: 45,333,838 (GRCm39)	R51C	probably damaging	Het
Pdpr	A	T	8: 111,851,107 (GRCm39)		probably benign	Het
Pfpl	A	T	19: 12,407,060 (GRCm39)	D437V	probably benign	Het
Pik3c2a	G	A	7: 115,987,280 (GRCm39)	T547I	probably benign	Het
Pkdrej	A	C	15: 85,700,963 (GRCm39)	S1658A	possibly damaging	Het
Pkn3	T	C	2: 29,969,776 (GRCm39)		probably null	Het
Plekhh2	A	G	17: 84,867,004 (GRCm39)		probably null	Het
Plxdc1	A	T	11: 97,823,150 (GRCm39)	C357S	probably damaging	Het
Pnp	A	G	14: 51,188,042 (GRCm39)	T132A	possibly damaging	Het
Prorp	A	T	12: 55,350,997 (GRCm39)	Q102L	probably benign	Het
Rcan2	A	G	17: 44,147,315 (GRCm39)	D51G	probably damaging	Het
Rcn1	T	C	2: 105,219,434 (GRCm39)	N253S	probably damaging	Het
Rreb1	T	A	13: 38,115,860 (GRCm39)	I1073N	probably benign	Het
Scaf4	G	T	16: 90,042,282 (GRCm39)	D686E	unknown	Het
Sfxn5	A	C	6: 85,213,907 (GRCm39)	M221R	probably damaging	Het
Slc38a1	A	G	15: 96,507,741 (GRCm39)	F104L	probably damaging	Het
Slc8a1	A	T	17: 81,955,547 (GRCm39)	V497D	probably damaging	Het
Spryd3	C	A	15: 102,027,396 (GRCm39)	G290C	probably damaging	Het
Stc2	A	T	11: 31,315,418 (GRCm39)	Y140*	probably null	Het
Stfa2	A	T	16: 36,228,673 (GRCm39)	I8K	possibly damaging	Het
Sult3a2	A	T	10: 33,658,026 (GRCm39)	M29K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Triobp	G	A	15: 78,887,967 (GRCm39)	R1908Q	probably damaging	Het
Trpm2	T	A	10: 77,802,828 (GRCm39)	R7*	probably null	Het
Ttn	T	C	2: 76,782,501 (GRCm39)	I912V	probably benign	Het
Tusc2	T	A	9: 107,442,080 (GRCm39)	V93E	probably damaging	Het
Uhrf2	T	A	19: 30,016,461 (GRCm39)		probably benign	Het
Umodl1	G	A	17: 31,178,203 (GRCm39)	V60M	probably damaging	Het
Ush2a	A	T	1: 188,380,501 (GRCm39)	D2270V	probably damaging	Het
Vmn2r80	A	G	10: 79,005,553 (GRCm39)	T397A	possibly damaging	Het
Wbp2	A	G	11: 115,977,708 (GRCm39)	V15A	probably benign	Het
Zfp182	T	A	X: 20,896,446 (GRCm39)	R617W	probably damaging	Het
Zfp82	C	A	7: 29,756,047 (GRCm39)	R345L	probably damaging	Het
Zfp85	T	C	13: 67,903,084 (GRCm39)		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
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
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'- AAGGTCCCTTGAGCTACCTGTTGC -3'
(R):5'- TAGCGTTCTGACACTGAGCTAGGC -3'

Sequencing Primer
(F):5'- GGGACATGCAATGACATCTTC -3'
(R):5'- ACTGAGCTAGGCTCCTGTC -3'

Posted On

2014-04-13