Mutagenetix > Incidental Mutations

Incidental Mutation 'R7297:Abca2'

566712

Institutional Source

Beutler Lab

Gene Symbol

Abca2

Ensembl Gene

ENSMUSG00000026944

Gene Name

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

Synonyms

Abc2, D2H0S1474E

Accession Numbers

NCBI RefSeq: NM_007379.2; MGI: 99606

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7297 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

25428703-25448540 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25442076 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1400 (D1400G)

Ref Sequence

ENSEMBL: ENSMUSP00000099983 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102919
AA Change: D1400G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: D1400G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	C	T	11: 110,183,026		probably null	Het
Adh4	A	G	3: 138,429,140	I358M	possibly damaging	Het
Akap6	T	G	12: 52,887,364	D546E	probably benign	Het
Arap3	G	A	18: 37,973,563	A1409V	possibly damaging	Het
Arhgap22	C	T	14: 33,271,933	R68*	probably null	Het
Arhgef4	A	T	1: 34,807,192	D207V	probably damaging	Het
Asb15	A	G	6: 24,566,463	T472A	probably damaging	Het
Ascl1	A	T	10: 87,492,464	S209T	probably damaging	Het
Asxl1	T	C	2: 153,397,435	V382A	probably benign	Het
Atp11a	T	C	8: 12,806,774		probably null	Het
Calu	C	T	6: 29,356,555	R27*	probably null	Het
Cdh20	A	G	1: 104,970,873	T442A	probably benign	Het
Chrm3	T	A	13: 9,877,833	Q389L	probably benign	Het
Cntnap1	A	G	11: 101,188,634	T1233A	probably benign	Het
Cwc15	G	A	9: 14,510,229	C197Y	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524	T223S	unknown	Het
Dennd3	C	T	15: 73,557,610	T914I	probably damaging	Het
Dlx3	C	A	11: 95,120,450	Y43*	probably null	Het
Dnah17	A	T	11: 118,055,730		probably null	Het
Dnah17	A	G	11: 118,103,356	F1081S	probably damaging	Het
Dpp10	G	A	1: 123,353,428	Q631*	probably null	Het
Dsel	T	A	1: 111,861,776	D343V	probably damaging	Het
Efcab12	T	C	6: 115,811,036	D655G	possibly damaging	Het
Epha8	T	A	4: 136,945,913	I187L	probably damaging	Het
Exosc10	A	G	4: 148,580,377	K781E	probably damaging	Het
Exosc5	T	C	7: 25,666,326	L200P	probably benign	Het
Faiml	T	C	9: 99,229,613	E131G	probably damaging	Het
Gm13723	A	T	2: 86,873,636	V29E	probably damaging	Het
Gm5145	G	A	17: 20,570,731	V124I	probably benign	Het
Grm7	T	C	6: 110,646,013	V49A	probably benign	Het
Gtf2e1	T	C	16: 37,536,065	D35G	probably damaging	Het
Heatr1	C	T	13: 12,421,060	Q1160*	probably null	Het
Herc2	T	A	7: 56,136,658	C1584S	probably benign	Het
Hsd17b3	T	C	13: 64,076,351	I88V	probably damaging	Het
Hspa14	A	C	2: 3,498,142	L205R	possibly damaging	Het
Ifna11	A	C	4: 88,820,425	E156A	possibly damaging	Het
Krt83	T	C	15: 101,489,647	D170G	probably benign	Het
Mas1	T	C	17: 12,841,858	Y226C	probably damaging	Het
Micall1	T	C	15: 79,120,897	F190L	unknown	Het
Msi2	A	T	11: 88,480,038	L141Q	probably damaging	Het
Nfkbib	T	C	7: 28,766,343	D27G	probably benign	Het
Nlrp9b	A	G	7: 20,049,513	D927G	possibly damaging	Het
Nrg3	T	C	14: 38,370,939	D579G	probably benign	Het
Nutm1	G	A	2: 112,250,056	R505C	probably damaging	Het
Olfr26	G	A	9: 38,855,949	D296N	probably damaging	Het
Parp4	C	T	14: 56,647,681	P1406S	not run	Het
Pkib	A	T	10: 57,736,326	Q101L	possibly damaging	Het
Plat	C	T	8: 22,775,697	T252I	probably benign	Het
Ppm1d	A	T	11: 85,345,995	E533D	probably damaging	Het
Psd3	T	C	8: 68,121,034	K165R	probably damaging	Het
Psg29	T	A	7: 17,210,691	Y375*	probably null	Het
Pus7	A	T	5: 23,741,910	I644N	probably damaging	Het
Rbbp9	A	T	2: 144,543,802	M181K	probably benign	Het
Rell1	A	T	5: 63,936,075	N112K	possibly damaging	Het
Simc1	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	AATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAGATGTGATGCAGTCACCAAGAG	13: 54,525,235		probably benign	Het
Skint5	G	A	4: 113,542,934	T1184M	unknown	Het
Slc27a2	T	A	2: 126,578,946	D452E	probably damaging	Het
Slc44a4	T	A	17: 34,927,912	I489N	probably damaging	Het
Slfn14	T	A	11: 83,278,995	K608*	probably null	Het
Snx15	T	A	19: 6,120,507	I301F	probably damaging	Het
Sost	C	T	11: 101,964,103	G127R	probably damaging	Het
Stt3b	A	G	9: 115,276,957	I150T	probably damaging	Het
Susd2	T	C	10: 75,642,568	D58G	probably benign	Het
Tex46	T	G	4: 136,612,901	V99G	probably damaging	Het
Tgfbi	T	A	13: 56,632,113	F492I	possibly damaging	Het
Tmem132c	G	A	5: 127,360,217	A257T	probably benign	Het
Trim2	A	T	3: 84,210,233	I51K	probably damaging	Het
Tsn	A	T	1: 118,300,861	Y210*	probably null	Het
Umodl1	G	A	17: 31,008,665	R1324H	probably benign	Het
Utp3	G	C	5: 88,554,517		probably benign	Het
Vmn1r5	A	T	6: 56,986,219	N293I	possibly damaging	Het
Vmn2r124	A	T	17: 18,073,573	I641F	probably damaging	Het
Vmn2r84	T	C	10: 130,391,250	N240D	probably benign	Het
Wbp1l	A	G	19: 46,654,400	D264G	possibly 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
R4933:Abca2	UTSW	2	25444827	missense	probably benign	0.25
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
R7487:Abca2	UTSW	2	25437903	missense	probably benign	0.02
R7561:Abca2	UTSW	2	25446695	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TTGCAGATGTGAAGGAGTCCC -3'
(R):5'- TGGAACTGCCGCATCTTCAG -3'

Sequencing Primer
(F):5'- CGGAAGGATGTGCTGCCTG -3'
(R):5'- GCATCTTCAGCCACCAGC -3'

Posted On

2019-06-26