Mutagenetix > Incidental Mutation

Incidental Mutation 'R1464:Abca2'

200910

Institutional Source

Beutler Lab

Gene Symbol

Abca2

Ensembl Gene

ENSMUSG00000026944

Gene Name

ATP-binding cassette, sub-family A member 2

Synonyms

Abc2, D2H0S1474E

MMRRC Submission

039518-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1464 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

25318715-25338552 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to G at 25337846 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944

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

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.7%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030469F06Rik	A	G	12: 31,234,914 (GRCm39)		noncoding transcript	Het
Adamts8	T	A	9: 30,862,673 (GRCm39)	W86R	probably benign	Het
Adh1	A	G	3: 137,994,508 (GRCm39)		probably null	Het
Adipor2	A	T	6: 119,338,804 (GRCm39)	W150R	probably damaging	Het
Aff4	T	A	11: 53,263,351 (GRCm39)	S124T	probably damaging	Het
Ahnak	G	T	19: 8,982,260 (GRCm39)	K1181N	probably damaging	Het
Ak2	C	A	4: 128,896,152 (GRCm39)		probably benign	Het
Alkbh5	A	G	11: 60,429,873 (GRCm39)	I209V	probably benign	Het
Ankrd11	T	C	8: 123,619,463 (GRCm39)	E1442G	probably damaging	Het
Apba2	T	A	7: 64,345,297 (GRCm39)	D162E	probably benign	Het
Asic3	G	A	5: 24,618,819 (GRCm39)	G37E	probably damaging	Het
AU040320	A	T	4: 126,685,824 (GRCm39)	K133N	possibly damaging	Het
C1qtnf7	A	G	5: 43,766,481 (GRCm39)	S34G	probably benign	Het
Carf	A	G	1: 60,165,065 (GRCm39)		probably benign	Het
Ccdc148	T	A	2: 58,796,374 (GRCm39)	R463*	probably null	Het
Ccdc148	T	C	2: 58,824,455 (GRCm39)	R329G	probably damaging	Het
Ccdc185	A	G	1: 182,576,263 (GRCm39)	I142T	probably benign	Het
Cd274	T	C	19: 29,359,992 (GRCm39)		probably benign	Het
Chrna10	G	A	7: 101,763,454 (GRCm39)	P114S	probably damaging	Het
Chst10	A	G	1: 38,904,772 (GRCm39)	I311T	probably damaging	Het
Cpne9	T	C	6: 113,271,698 (GRCm39)	Y353H	probably damaging	Het
Cubn	G	T	2: 13,330,099 (GRCm39)	A2594E	possibly damaging	Het
Cyp3a13	T	C	5: 137,903,827 (GRCm39)	N277S	possibly damaging	Het
Dctn4	A	G	18: 60,671,478 (GRCm39)	T117A	probably damaging	Het
Ddah1	A	T	3: 145,559,029 (GRCm39)	K96*	probably null	Het
Ddx5	A	C	11: 106,675,711 (GRCm39)	D326E	probably benign	Het
Dlg2	T	C	7: 91,617,406 (GRCm39)	S323P	probably damaging	Het
Dnaaf1	C	T	8: 120,306,049 (GRCm39)	H109Y	probably damaging	Het
Dnah8	C	A	17: 30,914,147 (GRCm39)	R1098S	possibly damaging	Het
Dnajc13	T	C	9: 104,091,366 (GRCm39)	T642A	probably benign	Het
Dnajc18	A	G	18: 35,813,900 (GRCm39)	S290P	possibly damaging	Het
Dscam	T	A	16: 96,602,453 (GRCm39)	H663L	possibly damaging	Het
Eefsec	C	T	6: 88,353,182 (GRCm39)		probably benign	Het
Emc1	A	G	4: 139,098,248 (GRCm39)	N740S	probably damaging	Het
Enpp2	C	T	15: 54,727,208 (GRCm39)	G541D	probably damaging	Het
Fam234b	C	T	6: 135,205,490 (GRCm39)	T485I	probably benign	Het
Fbxl13	A	T	5: 21,688,989 (GRCm39)	I773K	probably benign	Het
Fmo4	A	G	1: 162,621,924 (GRCm39)	F429S	possibly damaging	Het
Fndc3b	A	G	3: 27,494,334 (GRCm39)		probably benign	Het
Frem1	T	C	4: 82,930,116 (GRCm39)	S277G	probably damaging	Het
Gaa	A	G	11: 119,163,810 (GRCm39)	I221V	probably benign	Het
Gnptab	A	G	10: 88,281,616 (GRCm39)		probably benign	Het
Gphn	T	A	12: 78,659,738 (GRCm39)		probably benign	Het
Helz2	T	C	2: 180,881,447 (GRCm39)	E345G	probably damaging	Het
Ifna4	G	T	4: 88,760,237 (GRCm39)	R47I	probably damaging	Het
Igsf21	C	A	4: 139,761,836 (GRCm39)	A281S	probably benign	Het
Ikzf3	T	A	11: 98,407,731 (GRCm39)	I37L	probably benign	Het
Inpp5d	A	T	1: 87,625,827 (GRCm39)		probably benign	Het
Jag1	T	C	2: 136,957,568 (GRCm39)	E48G	probably damaging	Het
Jarid2	G	T	13: 45,001,857 (GRCm39)	V57F	probably damaging	Het
Kcnj4	A	G	15: 79,369,605 (GRCm39)	L125P	probably damaging	Het
Kif21b	A	G	1: 136,083,891 (GRCm39)	K713E	possibly damaging	Het
Layn	T	A	9: 50,968,886 (GRCm39)	S286C	probably damaging	Het
Lepr	T	A	4: 101,592,878 (GRCm39)	D164E	probably benign	Het
Macroh2a1	A	T	13: 56,230,949 (GRCm39)	S310T	probably damaging	Het
Map3k1	T	C	13: 111,892,405 (GRCm39)	H950R	possibly damaging	Het
Map4k5	C	A	12: 69,852,124 (GRCm39)	V801L	possibly damaging	Het
Mapkbp1	T	A	2: 119,851,742 (GRCm39)	S895T	probably benign	Het
Mthfr	T	A	4: 148,138,029 (GRCm39)		probably benign	Het
Naca	T	A	10: 127,884,157 (GRCm39)	M2157K	probably damaging	Het
Nav2	T	C	7: 49,011,952 (GRCm39)	I61T	probably damaging	Het
Nkx2-5	C	A	17: 27,058,253 (GRCm39)	A234S	probably benign	Het
Nol8	G	A	13: 49,830,264 (GRCm39)	S1116N	probably benign	Het
Nphp3	T	C	9: 103,909,078 (GRCm39)		probably benign	Het
Nppa	T	C	4: 148,085,304 (GRCm39)	S5P	probably benign	Het
Nup210	A	G	6: 91,030,551 (GRCm39)	V123A	possibly damaging	Het
Or13a21	G	T	7: 139,999,286 (GRCm39)	N133K	probably benign	Het
Osbpl11	A	G	16: 33,049,455 (GRCm39)	K604R	probably damaging	Het
Osbpl1a	C	T	18: 13,047,615 (GRCm39)	S113N	probably benign	Het
P2rx4	C	A	5: 122,852,602 (GRCm39)	P92Q	probably damaging	Het
Pde9a	A	T	17: 31,692,136 (GRCm39)	Q148L	probably benign	Het
Phf21b	T	A	15: 84,689,160 (GRCm39)	H122L	probably damaging	Het
Pik3ca	T	A	3: 32,515,990 (GRCm39)	F977I	probably damaging	Het
Pkd1l3	A	G	8: 110,363,059 (GRCm39)		probably benign	Het
Potefam1	A	G	2: 111,055,748 (GRCm39)		probably null	Het
Pp2d1	T	G	17: 53,823,015 (GRCm39)	K17T	possibly damaging	Het
Ppp4r2	A	G	6: 100,843,527 (GRCm39)	E415G	probably damaging	Het
Pramel19	T	A	4: 101,798,503 (GRCm39)	L158Q	probably damaging	Het
Prkg1	A	G	19: 30,556,270 (GRCm39)	S559P	probably damaging	Het
Prss45	A	T	9: 110,670,019 (GRCm39)	Y276F	possibly damaging	Het
Ptk7	G	T	17: 46,883,517 (GRCm39)	N849K	probably damaging	Het
Rnf121	A	G	7: 101,680,782 (GRCm39)	I125T	possibly damaging	Het
Rnf17	A	G	14: 56,699,368 (GRCm39)	N502S	probably damaging	Het
Sap25	T	A	5: 137,640,622 (GRCm39)	Y167*	probably null	Het
Sdk2	G	A	11: 113,720,906 (GRCm39)	T1341I	possibly damaging	Het
Sgcb	A	G	5: 73,792,896 (GRCm39)	V302A	probably benign	Het
Skor1	T	A	9: 63,047,393 (GRCm39)	M865L	possibly damaging	Het
Slc25a45	T	C	19: 5,929,928 (GRCm39)		probably benign	Het
Slc2a3	A	G	6: 122,714,269 (GRCm39)		probably benign	Het
Slc35g1	C	A	19: 38,391,665 (GRCm39)	L316I	probably benign	Het
Slco1a8	C	T	6: 141,938,243 (GRCm39)	W225*	probably null	Het
Spint4	T	A	2: 164,540,568 (GRCm39)	L33H	probably damaging	Het
Sptlc3	A	T	2: 139,389,154 (GRCm39)	D178V	probably benign	Het
Stoml1	A	G	9: 58,167,709 (GRCm39)		probably benign	Het
Tbc1d2	T	A	4: 46,606,491 (GRCm39)	Y818F	possibly damaging	Het
Tbc1d24	A	T	17: 24,400,197 (GRCm39)		probably null	Het
Teddm2	C	T	1: 153,726,277 (GRCm39)	W146*	probably null	Het
Ttn	T	A	2: 76,589,338 (GRCm39)	D12948V	probably damaging	Het
Txndc8	T	C	4: 58,000,274 (GRCm39)	T102A	probably damaging	Het
Uxs1	G	A	1: 43,804,076 (GRCm39)	Q280*	probably null	Het
Vmn1r167	T	C	7: 23,204,681 (GRCm39)	T112A	possibly damaging	Het
Vmn1r195	A	T	13: 22,463,348 (GRCm39)	I273L	probably benign	Het
Vmn1r28	T	A	6: 58,242,217 (GRCm39)	M20K	probably benign	Het
Vmn1r53	G	A	6: 90,200,914 (GRCm39)	L137F	probably benign	Het
Vmn2r105	G	A	17: 20,449,004 (GRCm39)		probably benign	Het
Vps13b	C	T	15: 35,709,630 (GRCm39)	A1859V	probably benign	Het
Vwa5b2	A	G	16: 20,415,019 (GRCm39)	H347R	probably benign	Het
Wnk2	G	A	13: 49,235,451 (GRCm39)	P655S	probably damaging	Het
Zan	T	G	5: 137,418,191 (GRCm39)	D2969A	unknown	Het
Zbtb24	A	G	10: 41,331,075 (GRCm39)	H334R	probably damaging	Het
Zfp108	A	G	7: 23,959,973 (GRCm39)	D188G	probably benign	Het
Zfp784	A	T	7: 5,038,800 (GRCm39)	C253S	possibly damaging	Het
Zfr	T	G	15: 12,146,458 (GRCm39)	C336W	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
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
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

Predicted Primers

Posted On

2014-05-23