Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02173:Abca2'

282964

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 #

IGL02173

Quality Score

Status

Chromosome

Chromosomal Location

25318715-25338552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25331909 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 1340 (D1340E)

Ref Sequence

ENSEMBL: ENSMUSP00000099983 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000102919
AA Change: D1340E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: D1340E

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 87,061,754 (GRCm39)	H68L	possibly damaging	Het
4930533K18Rik	A	G	10: 70,708,060 (GRCm39)		noncoding transcript	Het
4933409G03Rik	A	G	2: 68,443,401 (GRCm39)	T182A	unknown	Het
Abcc12	G	A	8: 87,293,071 (GRCm39)	A39V	probably damaging	Het
Acap2	T	C	16: 30,926,965 (GRCm39)	R510G	possibly damaging	Het
Ace	G	T	11: 105,879,817 (GRCm39)	R719L	probably benign	Het
Adarb1	A	C	10: 77,157,659 (GRCm39)	F263V	probably damaging	Het
Ahcyl	T	C	16: 45,974,441 (GRCm39)	N312S	probably benign	Het
Ambra1	T	C	2: 91,748,013 (GRCm39)	S1130P	probably benign	Het
Aqp7	A	T	4: 41,034,379 (GRCm39)	L260*	probably null	Het
Cntn5	G	T	9: 9,748,401 (GRCm39)	S493R	probably damaging	Het
Crhr2	A	G	6: 55,080,165 (GRCm39)	F138S	probably damaging	Het
D2hgdh	T	A	1: 93,757,611 (GRCm39)	D175E	probably benign	Het
Dtx4	G	T	19: 12,450,621 (GRCm39)	Y530*	probably null	Het
Elp4	T	A	2: 105,533,088 (GRCm39)	H419L	probably damaging	Het
Etv6	A	G	6: 134,225,690 (GRCm39)	D218G	possibly damaging	Het
Exoc5	A	G	14: 49,272,258 (GRCm39)		probably benign	Het
Fyb1	C	T	15: 6,610,176 (GRCm39)	P250S	probably benign	Het
Gaa	A	G	11: 119,165,739 (GRCm39)	Y84C	probably damaging	Het
Galns	A	T	8: 123,325,365 (GRCm39)	S262R	probably damaging	Het
Gfus	A	G	15: 75,798,034 (GRCm39)	S233P	probably damaging	Het
Kctd16	T	C	18: 40,663,906 (GRCm39)	I345T	probably benign	Het
Lats2	A	G	14: 57,934,717 (GRCm39)	V671A	probably damaging	Het
Maml3	C	A	3: 51,598,208 (GRCm39)	L179F	probably damaging	Het
Myo1f	T	C	17: 33,826,318 (GRCm39)	L1089P	probably damaging	Het
Nadsyn1	A	T	7: 143,357,743 (GRCm39)		probably benign	Het
Or1e34	A	G	11: 73,778,949 (GRCm39)	M83T	possibly damaging	Het
Or51k1	G	A	7: 103,661,037 (GRCm39)	P291S	probably damaging	Het
Or7d9	T	C	9: 20,197,691 (GRCm39)	V240A	probably benign	Het
Or9i1	A	G	19: 13,839,378 (GRCm39)	T74A	probably benign	Het
Otog	T	C	7: 45,926,165 (GRCm39)		probably benign	Het
Pcbd1	A	G	10: 60,927,983 (GRCm39)		probably benign	Het
Pced1a	A	G	2: 130,264,248 (GRCm39)	V164A	possibly damaging	Het
Pgd	A	G	4: 149,241,210 (GRCm39)	I233T	probably damaging	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Sec24d	A	T	3: 123,147,330 (GRCm39)	H733L	probably damaging	Het
Slc1a2	T	A	2: 102,574,206 (GRCm39)	N205K	probably benign	Het
Sstr2	G	T	11: 113,515,842 (GRCm39)	V254L	probably damaging	Het
Tm9sf2	G	T	14: 122,380,835 (GRCm39)	V308F	probably benign	Het
Tor3a	T	C	1: 156,501,776 (GRCm39)	K34E	probably benign	Het
Ubr4	T	A	4: 139,164,381 (GRCm39)		probably null	Het
Vmn1r56	A	G	7: 5,199,117 (GRCm39)	S167P	probably damaging	Het
Zswim3	T	A	2: 164,662,759 (GRCm39)	I413N	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
IGL01804:Abca2	APN	2	25,336,637 (GRCm39)	missense	probably damaging	1.00
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
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

2015-04-16