Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01804:Abca2'

155624

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abca2

Ensembl Gene

ENSMUSG00000026944

Gene Name

ATP-binding cassette, sub-family A member 2

Synonyms

Abc2, D2H0S1474E

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01804

Quality Score

Status

Chromosome

Chromosomal Location

25318715-25338552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25336637 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 2248 (C2248S)

Ref Sequence

ENSEMBL: ENSMUSP00000099983 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102919]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000102919
AA Change: C2248S

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

SMART Domains

Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: C2248S

Domain	Start	End	E-Value	Type
transmembrane domain	21	40	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC
low complexity region	220	237	N/A	INTRINSIC
coiled coil region	271	296	N/A	INTRINSIC
low complexity region	309	346	N/A	INTRINSIC
Pfam:ABC2_membrane_3	493	911	9.7e-18	PFAM
AAA	1015	1197	9.22e-7	SMART
low complexity region	1364	1376	N/A	INTRINSIC
low complexity region	1589	1607	N/A	INTRINSIC
Pfam:ABC2_membrane_3	1696	2008	2.3e-44	PFAM
AAA	2079	2264	1.12e-5	SMART
low complexity region	2375	2394	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125520

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141065

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143075

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149385

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150550

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199405

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Null mice show tremors, hyperactivity, abnormal coordination, and alterations in CNS myelin sheath ultrastructure, [provided by MGI curators]

Allele List at MGI

All alleles(4) : Targeted(4)

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,315,342 (GRCm39)	N1860D	probably benign	Het
Adamts16	G	A	13: 70,949,080 (GRCm39)	Q194*	probably null	Het
Cetn3	A	T	13: 81,932,779 (GRCm39)	K13*	probably null	Het
Cldn18	T	A	9: 99,580,901 (GRCm39)	K116*	probably null	Het
Cntn5	T	A	9: 9,831,542 (GRCm39)	I613F	probably damaging	Het
Cyp46a1	A	G	12: 108,321,745 (GRCm39)	I324V	probably benign	Het
Ddb1	A	C	19: 10,590,382 (GRCm39)	E303A	probably damaging	Het
Dnajc2	A	G	5: 21,962,361 (GRCm39)	V539A	probably damaging	Het
Dock2	T	A	11: 34,212,433 (GRCm39)	Y1236F	probably benign	Het
Dpf1	T	A	7: 29,015,926 (GRCm39)	C383S	probably damaging	Het
Edc4	T	A	8: 106,617,289 (GRCm39)	I1052N	possibly damaging	Het
Ehmt1	A	G	2: 24,681,966 (GRCm39)	L1243P	probably damaging	Het
Exoc6b	A	G	6: 84,885,148 (GRCm39)	S264P	probably damaging	Het
Gbx2	T	C	1: 89,856,703 (GRCm39)	E229G	probably benign	Het
Hip1r	T	A	5: 124,139,613 (GRCm39)		probably null	Het
Lig1	A	G	7: 13,043,131 (GRCm39)	K859E	probably benign	Het
Ly6g6f	T	C	17: 35,300,146 (GRCm39)	D234G	possibly damaging	Het
Mmp11	G	T	10: 75,764,304 (GRCm39)	L54I	probably benign	Het
Naip5	A	T	13: 100,358,092 (GRCm39)	L1048Q	probably damaging	Het
Or4c122	C	A	2: 89,079,566 (GRCm39)	M157I	probably benign	Het
Or6k14	A	G	1: 173,927,401 (GRCm39)	I126V	probably damaging	Het
Or7g12	T	A	9: 18,900,136 (GRCm39)	M284K	probably benign	Het
Or8g17	T	C	9: 38,930,697 (GRCm39)	I47V	probably benign	Het
Pappa2	T	C	1: 158,764,089 (GRCm39)	D474G	probably benign	Het
Plxna1	A	G	6: 89,306,628 (GRCm39)	Y1401H	probably damaging	Het
Prrg4	T	A	2: 104,663,035 (GRCm39)	E190D	probably damaging	Het
Rnf213	T	C	11: 119,333,092 (GRCm39)	F2767S	probably damaging	Het
Scgb1b2	T	A	7: 30,991,155 (GRCm39)		probably benign	Het
Sec31a	A	G	5: 100,523,065 (GRCm39)		probably null	Het
Slc12a4	A	G	8: 106,671,033 (GRCm39)	S1014P	probably damaging	Het
Spns2	A	T	11: 72,348,130 (GRCm39)	I279N	possibly damaging	Het
Spta1	A	T	1: 174,071,746 (GRCm39)	H2242L	probably benign	Het
Tcaf3	T	A	6: 42,574,063 (GRCm39)	I50F	probably damaging	Het
Tnfaip8l1	G	A	17: 56,479,214 (GRCm39)	S168N	probably benign	Het
Trak1	C	T	9: 121,271,751 (GRCm39)		probably benign	Het
Trpv4	A	T	5: 114,782,847 (GRCm39)	N38K	possibly damaging	Het
Ube2o	T	C	11: 116,435,199 (GRCm39)	T530A	probably benign	Het
Vmn2r2	A	G	3: 64,041,677 (GRCm39)	V346A	possibly damaging	Het
Vmn2r86	A	C	10: 130,288,858 (GRCm39)	D214E	probably damaging	Het
Wwc1	C	A	11: 35,732,751 (GRCm39)	D986Y	probably damaging	Het
Xdh	T	C	17: 74,199,754 (GRCm39)	D1184G	probably damaging	Het

Other mutations in Abca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Abca2	APN	2	25,335,975 (GRCm39)	splice site	probably null
IGL01102:Abca2	APN	2	25,323,968 (GRCm39)	splice site	probably benign
IGL01322:Abca2	APN	2	25,336,794 (GRCm39)	splice site	probably null
IGL01402:Abca2	APN	2	25,332,015 (GRCm39)	missense	probably damaging	1.00
IGL01419:Abca2	APN	2	25,327,526 (GRCm39)	missense	probably damaging	1.00
IGL01490:Abca2	APN	2	25,336,023 (GRCm39)	missense	probably damaging	1.00
IGL01633:Abca2	APN	2	25,334,406 (GRCm39)	missense	possibly damaging	0.66
IGL01661:Abca2	APN	2	25,333,007 (GRCm39)	missense	probably benign	0.01
IGL01933:Abca2	APN	2	25,334,123 (GRCm39)	missense	probably damaging	1.00
IGL01941:Abca2	APN	2	25,333,107 (GRCm39)	missense	probably benign	0.02
IGL02158:Abca2	APN	2	25,337,891 (GRCm39)	utr 3 prime	probably benign
IGL02173:Abca2	APN	2	25,331,909 (GRCm39)	missense	probably benign	0.00
IGL02419:Abca2	APN	2	25,336,849 (GRCm39)	missense	probably benign
IGL02532:Abca2	APN	2	25,325,148 (GRCm39)	missense	probably benign	0.03
IGL02572:Abca2	APN	2	25,323,329 (GRCm39)	missense	possibly damaging	0.95
Abseiling	UTSW	2	25,337,015 (GRCm39)	missense	possibly damaging	0.65
R0126:Abca2	UTSW	2	25,333,742 (GRCm39)	missense	possibly damaging	0.88
R0140:Abca2	UTSW	2	25,328,097 (GRCm39)	critical splice donor site	probably null
R0372:Abca2	UTSW	2	25,327,365 (GRCm39)	missense	probably damaging	1.00
R0437:Abca2	UTSW	2	25,332,857 (GRCm39)	missense	probably damaging	0.99
R0505:Abca2	UTSW	2	25,324,906 (GRCm39)	missense	probably benign	0.22
R0570:Abca2	UTSW	2	25,337,417 (GRCm39)	splice site	probably null
R1037:Abca2	UTSW	2	25,328,240 (GRCm39)	splice site	probably benign
R1283:Abca2	UTSW	2	25,336,701 (GRCm39)	missense	probably damaging	1.00
R1448:Abca2	UTSW	2	25,330,542 (GRCm39)	missense	possibly damaging	0.73
R1464:Abca2	UTSW	2	25,337,846 (GRCm39)	splice site	probably benign
R1468:Abca2	UTSW	2	25,331,308 (GRCm39)	missense	probably damaging	0.99
R1468:Abca2	UTSW	2	25,331,308 (GRCm39)	missense	probably damaging	0.99
R1480:Abca2	UTSW	2	25,323,409 (GRCm39)	missense	possibly damaging	0.60
R1545:Abca2	UTSW	2	25,332,370 (GRCm39)	missense	probably benign	0.17
R1562:Abca2	UTSW	2	25,336,331 (GRCm39)	missense	probably benign	0.43
R1569:Abca2	UTSW	2	25,329,197 (GRCm39)	missense	probably benign	0.45
R1586:Abca2	UTSW	2	25,337,228 (GRCm39)	missense	probably damaging	0.98
R1635:Abca2	UTSW	2	25,334,868 (GRCm39)	missense	probably benign	0.03
R1699:Abca2	UTSW	2	25,337,363 (GRCm39)	missense	possibly damaging	0.80
R1754:Abca2	UTSW	2	25,324,345 (GRCm39)	missense	probably benign	0.01
R1760:Abca2	UTSW	2	25,333,055 (GRCm39)	missense	probably benign	0.00
R2040:Abca2	UTSW	2	25,333,817 (GRCm39)	missense	probably damaging	1.00
R2067:Abca2	UTSW	2	25,327,517 (GRCm39)	missense	possibly damaging	0.88
R2111:Abca2	UTSW	2	25,327,517 (GRCm39)	missense	possibly damaging	0.88
R2248:Abca2	UTSW	2	25,323,476 (GRCm39)	splice site	probably benign
R2323:Abca2	UTSW	2	25,335,187 (GRCm39)	missense	probably benign	0.00
R2418:Abca2	UTSW	2	25,328,001 (GRCm39)	missense	probably benign	0.22
R2419:Abca2	UTSW	2	25,328,001 (GRCm39)	missense	probably benign	0.22
R3816:Abca2	UTSW	2	25,336,083 (GRCm39)	missense	probably damaging	1.00
R4180:Abca2	UTSW	2	25,331,590 (GRCm39)	missense	possibly damaging	0.58
R4431:Abca2	UTSW	2	25,332,864 (GRCm39)	missense	probably benign
R4468:Abca2	UTSW	2	25,334,914 (GRCm39)	missense	probably damaging	1.00
R4704:Abca2	UTSW	2	25,333,424 (GRCm39)	missense	probably damaging	0.99
R4839:Abca2	UTSW	2	25,330,921 (GRCm39)	missense	probably damaging	0.99
R4933:Abca2	UTSW	2	25,334,839 (GRCm39)	missense	probably benign	0.25
R4970:Abca2	UTSW	2	25,328,383 (GRCm39)	missense	probably damaging	1.00
R4971:Abca2	UTSW	2	25,332,006 (GRCm39)	missense	probably damaging	0.97
R5112:Abca2	UTSW	2	25,328,383 (GRCm39)	missense	probably damaging	1.00
R5327:Abca2	UTSW	2	25,335,686 (GRCm39)	missense	probably damaging	1.00
R5378:Abca2	UTSW	2	25,336,080 (GRCm39)	missense	probably damaging	1.00
R5648:Abca2	UTSW	2	25,326,510 (GRCm39)	critical splice donor site	probably null
R5725:Abca2	UTSW	2	25,329,412 (GRCm39)	missense	probably damaging	0.98
R5825:Abca2	UTSW	2	25,326,748 (GRCm39)	missense	probably benign	0.36
R5837:Abca2	UTSW	2	25,323,371 (GRCm39)	missense	probably benign	0.34
R5840:Abca2	UTSW	2	25,323,371 (GRCm39)	missense	probably benign	0.34
R5851:Abca2	UTSW	2	25,332,322 (GRCm39)	missense	possibly damaging	0.58
R6262:Abca2	UTSW	2	25,334,922 (GRCm39)	missense	possibly damaging	0.56
R6344:Abca2	UTSW	2	25,327,706 (GRCm39)	missense	probably damaging	1.00
R6547:Abca2	UTSW	2	25,323,350 (GRCm39)	missense	possibly damaging	0.80
R6640:Abca2	UTSW	2	25,337,015 (GRCm39)	missense	possibly damaging	0.65
R6980:Abca2	UTSW	2	25,330,878 (GRCm39)	missense	possibly damaging	0.89
R6981:Abca2	UTSW	2	25,334,151 (GRCm39)	missense	probably damaging	1.00
R7070:Abca2	UTSW	2	25,333,007 (GRCm39)	missense	probably benign	0.06
R7080:Abca2	UTSW	2	25,336,116 (GRCm39)	missense	probably benign	0.37
R7187:Abca2	UTSW	2	25,327,733 (GRCm39)	missense	probably damaging	1.00
R7195:Abca2	UTSW	2	25,332,088 (GRCm39)	missense	probably benign	0.00
R7297:Abca2	UTSW	2	25,332,088 (GRCm39)	missense	probably benign	0.00
R7487:Abca2	UTSW	2	25,327,915 (GRCm39)	missense	probably benign	0.02
R7561:Abca2	UTSW	2	25,336,707 (GRCm39)	missense	probably damaging	0.98
R7766:Abca2	UTSW	2	25,331,540 (GRCm39)	missense	probably benign	0.04
R8084:Abca2	UTSW	2	25,323,979 (GRCm39)	missense	probably benign	0.32
R8150:Abca2	UTSW	2	25,337,393 (GRCm39)	missense	probably damaging	0.99
R8684:Abca2	UTSW	2	25,336,508 (GRCm39)	missense	possibly damaging	0.89
R8753:Abca2	UTSW	2	25,332,706 (GRCm39)	missense	probably damaging	0.99
R8970:Abca2	UTSW	2	25,335,728 (GRCm39)	missense	probably benign	0.12
R9057:Abca2	UTSW	2	25,331,584 (GRCm39)	missense	probably benign	0.05
R9378:Abca2	UTSW	2	25,329,094 (GRCm39)	missense	probably benign	0.02
R9502:Abca2	UTSW	2	25,326,895 (GRCm39)	nonsense	probably null
R9688:Abca2	UTSW	2	25,324,459 (GRCm39)	missense	possibly damaging	0.94
R9770:Abca2	UTSW	2	25,328,979 (GRCm39)	critical splice donor site	probably null
RF063:Abca2	UTSW	2	25,337,409 (GRCm39)	missense	probably damaging	1.00
RF064:Abca2	UTSW	2	25,337,409 (GRCm39)	missense	probably damaging	1.00
Z1176:Abca2	UTSW	2	25,334,122 (GRCm39)	missense	probably benign	0.39

Posted On

2014-02-04