Mutagenetix > Incidental Mutation

Incidental Mutation 'R7108:Abcd2'

551357

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

045200-MU

Accession Numbers

Essential gene?

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

Stock #

R7108 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91030074-91076002 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91075477 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 112 (V112E)

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: V112E

PolyPhen 2 Score 0.431 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000068940
Gene: ENSMUSG00000055782
AA Change: V112E

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,771,750 (GRCm39)	S411P	probably damaging	Het
4930503L19Rik	A	T	18: 70,601,547 (GRCm39)	Y112N	probably benign	Het
Acadm	A	T	3: 153,631,437 (GRCm39)	Y353*	probably null	Het
Adra2c	A	G	5: 35,437,342 (GRCm39)	D38G	probably benign	Het
Ankrd10	C	T	8: 11,662,624 (GRCm39)	G370R	probably damaging	Het
Arfgef2	T	A	2: 166,715,528 (GRCm39)	N1324K	possibly damaging	Het
Atp6v1b2	A	G	8: 69,555,153 (GRCm39)	T172A	probably damaging	Het
Bloc1s1	T	A	10: 128,758,592 (GRCm39)	K22M	possibly damaging	Het
Brpf3	A	G	17: 29,036,099 (GRCm39)	T599A	probably benign	Het
Cacna1e	TTCCAGTCTC	TTC	1: 154,344,741 (GRCm39)		probably null	Het
Ccdc186	T	C	19: 56,787,192 (GRCm39)	D592G	probably damaging	Het
Cfap161	A	T	7: 83,442,518 (GRCm39)	D98E	possibly damaging	Het
Cfi	G	A	3: 129,668,665 (GRCm39)	V564M	probably damaging	Het
Cilp2	T	A	8: 70,333,779 (GRCm39)	Q1073L	probably damaging	Het
Cox6b1	A	G	7: 30,322,929 (GRCm39)	C40R	possibly damaging	Het
Cyp3a59	A	T	5: 146,033,143 (GRCm39)	M172L	probably benign	Het
Cyth1	T	C	11: 118,073,739 (GRCm39)	D198G	probably damaging	Het
Daam2	T	C	17: 49,767,702 (GRCm39)	D963G	probably damaging	Het
Ddi2	A	T	4: 141,433,248 (GRCm39)	D209E	probably benign	Het
Dnah12	G	A	14: 26,500,869 (GRCm39)		probably null	Het
Dnai7	G	A	6: 145,131,591 (GRCm39)	Q351*	probably null	Het
Dpagt1	G	T	9: 44,238,318 (GRCm39)		probably benign	Het
Drc3	T	A	11: 60,261,380 (GRCm39)	F177Y	probably benign	Het
Dsg2	T	C	18: 20,734,920 (GRCm39)	V966A	probably damaging	Het
E4f1	A	G	17: 24,663,552 (GRCm39)	V633A	probably damaging	Het
Eif2ak2	T	A	17: 79,165,965 (GRCm39)	R411*	probably null	Het
Frem2	T	C	3: 53,560,934 (GRCm39)	E1191G	probably damaging	Het
Fry	T	C	5: 150,319,251 (GRCm39)	V972A	probably damaging	Het
Fry	T	A	5: 150,414,555 (GRCm39)	C467S		Het
Fscn1	T	C	5: 142,946,270 (GRCm39)	Y23H	probably damaging	Het
Gm16506	T	A	14: 43,961,759 (GRCm39)	I163F		Het
Gm21103	T	C	14: 17,484,768 (GRCm39)	Y92C	probably damaging	Het
Golgb1	A	G	16: 36,734,083 (GRCm39)	H1151R	probably benign	Het
Gprc5c	T	C	11: 114,755,108 (GRCm39)	Y262H	probably damaging	Het
Hc	G	T	2: 34,929,706 (GRCm39)	N245K	probably benign	Het
Hps6	T	A	19: 45,993,929 (GRCm39)	L622Q	probably damaging	Het
Hsd17b1	T	C	11: 100,970,035 (GRCm39)	Y156H	probably damaging	Het
Ireb2	T	A	9: 54,813,925 (GRCm39)	F799L	probably damaging	Het
Irf1	A	G	11: 53,665,238 (GRCm39)	D205G	probably damaging	Het
Kif12	A	T	4: 63,089,442 (GRCm39)	F103L	probably benign	Het
Krt12	C	T	11: 99,306,878 (GRCm39)	V475M	unknown	Het
Lca5	T	A	9: 83,305,222 (GRCm39)	T195S	probably benign	Het
Lrrc17	T	C	5: 21,780,337 (GRCm39)	V437A	possibly damaging	Het
Malt1	G	T	18: 65,597,122 (GRCm39)	D468Y	probably damaging	Het
Man2b2	C	T	5: 36,972,829 (GRCm39)	A562T	probably benign	Het
Mrc1	C	T	2: 14,308,957 (GRCm39)	Q794*	probably null	Het
Muc16	T	A	9: 18,566,529 (GRCm39)	I1997L	unknown	Het
Muc6	AGGCGCAGAAACCCTGGC	AGGC	7: 141,214,363 (GRCm39)		probably null	Het
Mycbp2	A	T	14: 103,360,039 (GRCm39)	F4518Y	probably damaging	Het
Myo5a	T	A	9: 75,037,274 (GRCm39)	I159N	probably damaging	Het
Nat1	T	C	8: 67,943,672 (GRCm39)	V19A	probably benign	Het
Ndst4	A	G	3: 125,355,120 (GRCm39)	T343A	probably damaging	Het
Nlrp9b	A	T	7: 19,779,855 (GRCm39)	L839F	probably damaging	Het
Nxnl1	A	G	8: 72,019,198 (GRCm39)	I9T	probably benign	Het
Odr4	T	C	1: 150,258,041 (GRCm39)	Y198C	probably benign	Het
Or1l4b	C	T	2: 37,036,272 (GRCm39)	T16I	probably benign	Het
Or2ag12	G	A	7: 106,277,255 (GRCm39)	A146V	probably benign	Het
Or2t49	T	A	11: 58,393,380 (GRCm39)	M7L	probably benign	Het
Or52b4i	A	T	7: 102,191,199 (GRCm39)	I19F	probably damaging	Het
Or7a35	C	A	10: 78,853,483 (GRCm39)	S109*	probably null	Het
Pou5f2	T	C	13: 78,173,384 (GRCm39)	S109P	possibly damaging	Het
Prkcz	G	A	4: 155,371,250 (GRCm39)	Q321*	probably null	Het
Prr18	G	T	17: 8,560,363 (GRCm39)	R173L	probably damaging	Het
Ralgapb	T	C	2: 158,334,380 (GRCm39)	Y1364H	probably damaging	Het
Ralgapb	A	T	2: 158,336,582 (GRCm39)	I1407F	probably damaging	Het
Sacs	T	A	14: 61,448,458 (GRCm39)	Y3501*	probably null	Het
Sall3	G	A	18: 81,016,969 (GRCm39)	P320S	probably benign	Het
Scn8a	A	T	15: 100,937,659 (GRCm39)	H1676L	probably benign	Het
Shmt1	T	C	11: 60,689,470 (GRCm39)	D178G	probably damaging	Het
Slmap	T	C	14: 26,143,676 (GRCm39)	K737R	probably benign	Het
Ssh2	G	A	11: 77,345,620 (GRCm39)	V1202I	probably benign	Het
Stard7	A	G	2: 127,137,414 (GRCm39)	D288G	possibly damaging	Het
Tek	A	T	4: 94,741,724 (GRCm39)	D827V	probably damaging	Het
Tfap2e	A	G	4: 126,614,356 (GRCm39)	L276P	probably damaging	Het
Tns3	T	C	11: 8,387,251 (GRCm39)	N1312S	probably benign	Het
Tubd1	T	A	11: 86,448,631 (GRCm39)	S315T	probably damaging	Het
Ube2f	T	A	1: 91,192,941 (GRCm39)	C50*	probably null	Het
Vmn2r109	T	C	17: 20,785,006 (GRCm39)	I5V	probably benign	Het
Vmn2r39	T	C	7: 9,026,667 (GRCm39)	T445A	probably damaging	Het
Zfp764l1	A	G	7: 126,990,695 (GRCm39)	S431P	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
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'- ATAGGTCTCATAGGCATGGTCTAC -3'
(R):5'- AGAAGCTTACTCGCCTGCAG -3'

Sequencing Primer
(F):5'- CTCATAGGCATGGTCTACTAAGCG -3'
(R):5'- TTACTCGCCTGCAGAGAACAGAG -3'

Posted On

2019-05-15