Mutagenetix > Incidental Mutation

Incidental Mutation 'R9267:Abcd2'

702643

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

Accession Numbers

Essential gene?

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

Stock #

R9267 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91030074-91076002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91063423 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 422 (T422S)

Ref Sequence

ENSEMBL: ENSMUSP00000068940 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069511]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000069511
AA Change: T422S

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: T422S

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: 99.6%
20x: 98.7%

Validation Efficiency

98% (79/81)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	G	T	14: 118,869,657 (GRCm39)		probably benign	Het
Acsl3	T	G	1: 78,674,623 (GRCm39)	I390S	probably damaging	Het
Adad1	T	A	3: 37,139,074 (GRCm39)		probably benign	Het
Adam3	A	G	8: 25,171,605 (GRCm39)	V742A	probably benign	Het
Adgra3	A	T	5: 50,155,618 (GRCm39)	I450K	possibly damaging	Het
Adgrb2	T	C	4: 129,885,901 (GRCm39)	S14P	possibly damaging	Het
Arfgef3	T	A	10: 18,475,028 (GRCm39)	I1553F	probably damaging	Het
Btbd16	C	T	7: 130,417,516 (GRCm39)	R344C	probably damaging	Het
Ccdc27	A	G	4: 154,117,441 (GRCm39)	L502P	probably damaging	Het
Ccdc50	T	A	16: 27,208,700 (GRCm39)	L5Q		Het
Cdh16	C	T	8: 105,341,834 (GRCm39)	G777D	probably damaging	Het
Cntn2	C	A	1: 132,449,021 (GRCm39)	V663L	probably benign	Het
Cpne4	T	A	9: 104,884,833 (GRCm39)	V343E	probably damaging	Het
Dctpp1	A	T	7: 126,856,275 (GRCm39)	I149N	probably benign	Het
Dlg5	T	C	14: 24,204,745 (GRCm39)	N1266S	probably damaging	Het
Dst	A	G	1: 34,232,145 (GRCm39)	D3246G	probably benign	Het
Efcab8	G	C	2: 153,646,861 (GRCm39)	V397L	unknown	Het
Erbin	T	C	13: 103,987,292 (GRCm39)	T423A	probably damaging	Het
Erich5	C	T	15: 34,471,563 (GRCm39)	P264L	possibly damaging	Het
Fam90a1a	A	G	8: 22,453,091 (GRCm39)	M149V	probably benign	Het
Fbxl18	C	T	5: 142,880,870 (GRCm39)	G62R	possibly damaging	Het
Fech	A	G	18: 64,591,267 (GRCm39)	S386P	possibly damaging	Het
Fhl3	T	A	4: 124,601,498 (GRCm39)		probably null	Het
Fkbp5	A	G	17: 28,629,558 (GRCm39)	S256P	probably benign	Het
Frem2	A	G	3: 53,564,504 (GRCm39)	M1T	probably null	Het
Galnt5	T	C	2: 57,925,220 (GRCm39)	F834L	possibly damaging	Het
Gm3618	G	T	14: 17,502,588 (GRCm39)	T99N	unknown	Het
Gm9195	T	A	14: 72,700,546 (GRCm39)	Q1127L	possibly damaging	Het
Gpsm1	A	G	2: 26,236,835 (GRCm39)	D643G	probably damaging	Het
Grm4	A	G	17: 27,654,183 (GRCm39)	V589A	possibly damaging	Het
Gskip	T	A	12: 105,665,052 (GRCm39)	F30L	probably benign	Het
Haus3	T	A	5: 34,311,452 (GRCm39)		probably null	Het
Heatr1	T	C	13: 12,421,489 (GRCm39)	F463S	probably damaging	Het
Hmcn1	G	A	1: 150,473,740 (GRCm39)	S4851F	probably benign	Het
Il16	A	C	7: 83,371,757 (GRCm39)	F16L	probably benign	Het
Itga1	C	A	13: 115,185,924 (GRCm39)	C26F	possibly damaging	Het
Itga6	A	G	2: 71,668,756 (GRCm39)	E565G	probably benign	Het
Itgb4	A	G	11: 115,870,465 (GRCm39)	H98R	probably benign	Het
Kidins220	T	A	12: 25,038,558 (GRCm39)	S37T	probably benign	Het
Lrrc37	A	T	11: 103,495,406 (GRCm39)	D2804E	unknown	Het
Lrrk2	C	T	15: 91,584,629 (GRCm39)	L349F	probably damaging	Het
Malrd1	T	G	2: 16,260,077 (GRCm39)	I2099S	unknown	Het
Mapk8ip1	A	G	2: 92,216,714 (GRCm39)	I492T	possibly damaging	Het
Mest	T	A	6: 30,742,141 (GRCm39)	D68E		Het
Mthfd1l	A	G	10: 3,934,154 (GRCm39)	D162G	probably benign	Het
Nalcn	A	T	14: 123,518,567 (GRCm39)	D1657E	probably benign	Het
Nbeal2	C	A	9: 110,462,115 (GRCm39)	V1475F	probably damaging	Het
Nf1	C	A	11: 79,331,716 (GRCm39)	Q684K	possibly damaging	Het
Opn5	T	A	17: 42,903,793 (GRCm39)	T181S	probably damaging	Het
Or10ag54	T	C	2: 87,099,326 (GRCm39)	L67P	possibly damaging	Het
Or1j19	A	T	2: 36,676,530 (GRCm39)		probably benign	Het
Or7a38	A	G	10: 78,752,803 (GRCm39)	N43S	probably damaging	Het
Or9s15	A	T	1: 92,524,994 (GRCm39)	H251L	probably damaging	Het
Or9s15	A	T	1: 92,524,996 (GRCm39)	M252L	probably benign	Het
Orc4	T	A	2: 48,827,534 (GRCm39)	R20*	probably null	Het
Pik3ca	T	C	3: 32,492,211 (GRCm39)	Y270H	probably damaging	Het
Pkn2	T	C	3: 142,517,676 (GRCm39)	E474G	probably null	Het
Pnma8b	A	T	7: 16,679,159 (GRCm39)	N48Y	unknown	Het
Pnpla2	A	C	7: 141,036,503 (GRCm39)		probably benign	Het
Polr1a	G	A	6: 71,942,542 (GRCm39)	M1127I	probably benign	Het
Ptpre	A	C	7: 135,274,549 (GRCm39)	D507A	probably damaging	Het
Rab3gap2	T	C	1: 184,983,331 (GRCm39)	V490A	probably damaging	Het
Rab44	A	T	17: 29,354,338 (GRCm39)		probably benign	Het
Rchy1	G	T	5: 92,105,831 (GRCm39)	T39N	probably benign	Het
Ripor1	A	G	8: 106,348,063 (GRCm39)	D1146G	unknown	Het
Sh3yl1	A	T	12: 30,972,335 (GRCm39)	I35F	possibly damaging	Het
Slc22a5	A	G	11: 53,764,619 (GRCm39)	F276L	probably benign	Het
Slc8a3	T	A	12: 81,361,208 (GRCm39)	D537V	possibly damaging	Het
Smc4	T	A	3: 68,941,786 (GRCm39)	I1263N	probably damaging	Het
Snai2	A	T	16: 14,525,120 (GRCm39)	T209S	possibly damaging	Het
Stam2	A	T	2: 52,604,903 (GRCm39)	Y211N	probably damaging	Het
Stxbp1	A	G	2: 32,708,517 (GRCm39)	S83P	probably damaging	Het
Susd4	T	C	1: 182,716,389 (GRCm39)	F325L	probably benign	Het
Tmem245	A	G	4: 56,947,236 (GRCm39)	V59A	probably benign	Het
Tnk2	A	G	16: 32,494,489 (GRCm39)	D469G	probably damaging	Het
Tpx2	A	G	2: 152,732,517 (GRCm39)	D597G	probably damaging	Het
Ube2w	A	T	1: 16,612,011 (GRCm39)	S170R		Het
Vmn2r102	A	T	17: 19,896,928 (GRCm39)	I92F	probably damaging	Het
Vmn2r11	T	A	5: 109,199,929 (GRCm39)	E508V	possibly damaging	Het
Vmn2r30	T	A	7: 7,340,432 (GRCm39)	I21F	possibly damaging	Het
Yipf2	G	A	9: 21,501,489 (GRCm39)	T187M	possibly damaging	Het
Zbtb8a	T	A	4: 129,248,267 (GRCm39)	K335*	probably null	Het
Zfp609	T	C	9: 65,608,328 (GRCm39)	D1184G	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
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
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'- CACGACTAAAAGCTCTTTCCTAAAG -3'
(R):5'- TCCCAAGAAGGCTCTTCAGTC -3'

Sequencing Primer
(F):5'- TGACAACAACCTGTAATGAACATGTC -3'
(R):5'- CAAGAAGGCTCTTCAGTCATCTG -3'

Posted On

2022-03-25