Mutagenetix > Incidental Mutations

Incidental Mutation 'R4933:Abca2'

380696

Institutional Source

Beutler Lab

Gene Symbol

Abca2

Ensembl Gene

ENSMUSG00000026944

Gene Name

ATP-binding cassette, sub-family A (ABC1), member 2

Synonyms

Abc2, D2H0S1474E

MMRRC Submission

042533-MU

Accession Numbers

NCBI RefSeq: NM_007379.2; MGI: 99606

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4933 (G1)

Quality Score

208

Status

Validated

Chromosome

Chromosomal Location

25428703-25448540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 25444827 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1937 (V1937A)

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: V1937A

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: V1937A

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

Meta Mutation Damage Score

0.1911

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

97% (73/75)

MGI Phenotype

Strain: 3697467; 3719855
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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,626,802	E643G	probably damaging	Het
4430402I18Rik	G	T	19: 28,941,775	H195N	possibly damaging	Het
Acot10	A	T	15: 20,666,330	N108K	possibly damaging	Het
Agtpbp1	A	T	13: 59,500,572	M478K	probably benign	Het
Akirin1	G	A	4: 123,736,858	S191F	probably damaging	Het
Aurkb	T	C	11: 69,048,144		probably benign	Het
Cabyr	T	C	18: 12,744,492		probably benign	Het
Ccp110	A	G	7: 118,725,319	E688G	probably damaging	Het
Champ1	T	A	8: 13,879,137	S432T	probably benign	Het
Crybg1	T	A	10: 43,999,213	N633I	probably damaging	Het
Dagla	A	T	19: 10,269,715		probably null	Het
Dkkl1	A	T	7: 45,211,525	L10Q	probably null	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
E430018J23Rik	A	G	7: 127,393,349	Y30H	probably damaging	Het
Fndc7	G	T	3: 108,876,670	Q208K	probably benign	Het
Gins4	A	T	8: 23,234,780	C53S	probably damaging	Het
Gja8	T	A	3: 96,919,035		probably benign	Het
Golph3l	T	A	3: 95,617,423	N328K	probably benign	Het
Haus6	A	C	4: 86,585,287		probably benign	Het
Hdac5	A	G	11: 102,200,563		probably benign	Het
Ide	A	G	19: 37,277,756	Y883H	unknown	Het
Igf2r	A	G	17: 12,691,877		probably null	Het
Kdm3b	T	C	18: 34,810,393	Y723H	probably damaging	Het
Kif21b	G	A	1: 136,151,325		probably null	Het
Lancl1	A	T	1: 67,021,034	N77K	probably benign	Het
Lyst	G	A	13: 13,759,378	V3554I	probably benign	Het
Lyst	T	A	13: 13,637,764	N920K	probably damaging	Het
Map1a	G	A	2: 121,305,905	A2163T	probably damaging	Het
Mapk7	G	T	11: 61,493,908		probably benign	Het
Myo10	C	A	15: 25,781,118	Q154K	probably damaging	Het
Olfr13	C	T	6: 43,174,321	L112F	probably benign	Het
Olfr132	A	G	17: 38,130,550	I214T	probably damaging	Het
Pcdhgb2	G	A	18: 37,692,214	V753M	probably benign	Het
Pnn	T	A	12: 59,070,227	L195Q	probably damaging	Het
Pot1a	A	G	6: 25,771,541	V227A	possibly damaging	Het
Ppp1r21	T	A	17: 88,547,621	D109E	probably benign	Het
Prr15l	G	A	11: 96,934,762	G73S	probably damaging	Het
Rnf148	A	G	6: 23,654,340	F219S	probably benign	Het
Rnpep	C	A	1: 135,267,026		probably benign	Het
Ryr1	T	C	7: 29,104,298	T643A	probably damaging	Het
Ryr2	A	T	13: 11,945,945	C36S	probably damaging	Het
Shc3	G	T	13: 51,442,769	T406N	probably benign	Het
Slit3	G	T	11: 35,688,593	G1199V	probably damaging	Het
Sptbn5	G	A	2: 120,050,120		noncoding transcript	Het
St8sia6	T	C	2: 13,665,442	N236D	probably damaging	Het
Stpg1	A	T	4: 135,506,416	Q3L	probably benign	Het
Sult3a1	T	A	10: 33,866,554	I59N	probably damaging	Het
Svs1	T	C	6: 48,987,492	S145P	probably damaging	Het
Vmn1r208	T	G	13: 22,772,788	I180L	probably benign	Het
Vmn2r51	A	T	7: 10,098,320	N446K	probably damaging	Het
Vmn2r63	A	T	7: 42,903,978	I618N	probably damaging	Het
Wrn	T	C	8: 33,322,343	N182S	probably benign	Het
Zfp296	G	T	7: 19,579,712	C164F	possibly damaging	Het
Zmynd8	A	G	2: 165,834,951	V249A	possibly damaging	Het
Zswim2	A	G	2: 83,925,227	L110P	probably damaging	Het

Other mutations in Abca2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Abca2	APN	2	25445963	splice site	probably null
IGL01102:Abca2	APN	2	25433956	splice site	probably benign
IGL01322:Abca2	APN	2	25446782	splice site	probably null
IGL01402:Abca2	APN	2	25442003	missense	probably damaging	1.00
IGL01419:Abca2	APN	2	25437514	missense	probably damaging	1.00
IGL01490:Abca2	APN	2	25446011	missense	probably damaging	1.00
IGL01633:Abca2	APN	2	25444394	missense	possibly damaging	0.66
IGL01661:Abca2	APN	2	25442995	missense	probably benign	0.01
IGL01804:Abca2	APN	2	25446625	missense	probably damaging	1.00
IGL01933:Abca2	APN	2	25444111	missense	probably damaging	1.00
IGL01941:Abca2	APN	2	25443095	missense	probably benign	0.02
IGL02158:Abca2	APN	2	25447879	utr 3 prime	probably benign
IGL02173:Abca2	APN	2	25441897	missense	probably benign	0.00
IGL02419:Abca2	APN	2	25446837	missense	probably benign
IGL02532:Abca2	APN	2	25435136	missense	probably benign	0.03
IGL02572:Abca2	APN	2	25433317	missense	possibly damaging	0.95
Abseiling	UTSW	2	25447003	missense	possibly damaging	0.65
R0126:Abca2	UTSW	2	25443730	missense	possibly damaging	0.88
R0140:Abca2	UTSW	2	25438085	critical splice donor site	probably null
R0372:Abca2	UTSW	2	25437353	missense	probably damaging	1.00
R0437:Abca2	UTSW	2	25442845	missense	probably damaging	0.99
R0505:Abca2	UTSW	2	25434894	missense	probably benign	0.22
R0570:Abca2	UTSW	2	25447405	splice site	probably null
R1037:Abca2	UTSW	2	25438228	splice site	probably benign
R1283:Abca2	UTSW	2	25446689	missense	probably damaging	1.00
R1448:Abca2	UTSW	2	25440530	missense	possibly damaging	0.73
R1464:Abca2	UTSW	2	25447834	splice site	probably benign
R1468:Abca2	UTSW	2	25441296	missense	probably damaging	0.99
R1468:Abca2	UTSW	2	25441296	missense	probably damaging	0.99
R1480:Abca2	UTSW	2	25433397	missense	possibly damaging	0.60
R1545:Abca2	UTSW	2	25442358	missense	probably benign	0.17
R1562:Abca2	UTSW	2	25446319	missense	probably benign	0.43
R1569:Abca2	UTSW	2	25439185	missense	probably benign	0.45
R1586:Abca2	UTSW	2	25447216	missense	probably damaging	0.98
R1635:Abca2	UTSW	2	25444856	missense	probably benign	0.03
R1699:Abca2	UTSW	2	25447351	missense	possibly damaging	0.80
R1754:Abca2	UTSW	2	25434333	missense	probably benign	0.01
R1760:Abca2	UTSW	2	25443043	missense	probably benign	0.00
R2040:Abca2	UTSW	2	25443805	missense	probably damaging	1.00
R2067:Abca2	UTSW	2	25437505	missense	possibly damaging	0.88
R2111:Abca2	UTSW	2	25437505	missense	possibly damaging	0.88
R2248:Abca2	UTSW	2	25433464	splice site	probably benign
R2323:Abca2	UTSW	2	25445175	missense	probably benign	0.00
R2418:Abca2	UTSW	2	25437989	missense	probably benign	0.22
R2419:Abca2	UTSW	2	25437989	missense	probably benign	0.22
R3816:Abca2	UTSW	2	25446071	missense	probably damaging	1.00
R4180:Abca2	UTSW	2	25441578	missense	possibly damaging	0.58
R4431:Abca2	UTSW	2	25442852	missense	probably benign
R4468:Abca2	UTSW	2	25444902	missense	probably damaging	1.00
R4704:Abca2	UTSW	2	25443412	missense	probably damaging	0.99
R4839:Abca2	UTSW	2	25440909	missense	probably damaging	0.99
R4970:Abca2	UTSW	2	25438371	missense	probably damaging	1.00
R4971:Abca2	UTSW	2	25441994	missense	probably damaging	0.97
R5112:Abca2	UTSW	2	25438371	missense	probably damaging	1.00
R5327:Abca2	UTSW	2	25445674	missense	probably damaging	1.00
R5378:Abca2	UTSW	2	25446068	missense	probably damaging	1.00
R5648:Abca2	UTSW	2	25436498	critical splice donor site	probably null
R5725:Abca2	UTSW	2	25439400	missense	probably damaging	0.98
R5825:Abca2	UTSW	2	25436736	missense	probably benign	0.36
R5837:Abca2	UTSW	2	25433359	missense	probably benign	0.34
R5840:Abca2	UTSW	2	25433359	missense	probably benign	0.34
R5851:Abca2	UTSW	2	25442310	missense	possibly damaging	0.58
R6262:Abca2	UTSW	2	25444910	missense	possibly damaging	0.56
R6344:Abca2	UTSW	2	25437694	missense	probably damaging	1.00
R6547:Abca2	UTSW	2	25433338	missense	possibly damaging	0.80
R6640:Abca2	UTSW	2	25447003	missense	possibly damaging	0.65
R6980:Abca2	UTSW	2	25440866	missense	possibly damaging	0.89
R6981:Abca2	UTSW	2	25444139	missense	probably damaging	1.00
R7070:Abca2	UTSW	2	25442995	missense	probably benign	0.06
R7080:Abca2	UTSW	2	25446104	missense	probably benign	0.37
R7187:Abca2	UTSW	2	25437721	missense	probably damaging	1.00
R7195:Abca2	UTSW	2	25442076	missense	probably benign	0.00
R7297:Abca2	UTSW	2	25442076	missense	probably benign	0.00
R7487:Abca2	UTSW	2	25437903	missense	probably benign	0.02
R7561:Abca2	UTSW	2	25446695	missense	probably damaging	0.98
R7766:Abca2	UTSW	2	25441528	missense	probably benign	0.04
R8084:Abca2	UTSW	2	25433967	missense	probably benign	0.32
R8150:Abca2	UTSW	2	25447381	missense	probably damaging	0.99
R8684:Abca2	UTSW	2	25446496	missense	possibly damaging	0.89
R8753:Abca2	UTSW	2	25442694	missense	probably damaging	0.99
R8970:Abca2	UTSW	2	25445716	missense	probably benign	0.12
R9057:Abca2	UTSW	2	25441572	missense	probably benign	0.05
R9378:Abca2	UTSW	2	25439082	missense	probably benign	0.02
RF063:Abca2	UTSW	2	25447397	missense	probably damaging	1.00
RF064:Abca2	UTSW	2	25447397	missense	probably damaging	1.00
Z1176:Abca2	UTSW	2	25444110	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- TTTTGAGCATGACAAGGTAAAGGTG -3'
(R):5'- GTCAAACTGGCCTGTGGAAC -3'

Sequencing Primer
(F):5'- TGGGGGTGAATGGGCAGC -3'
(R):5'- CCCCGTTGTTCTTGGAACTTAAGAG -3'

Posted On

2016-04-15