Mutagenetix > Incidental Mutation

Incidental Mutation 'R8684:Abca2'

661928

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

068539-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8684 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

25318715-25338552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 25336508 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 2229 (L2229Q)

Ref Sequence

ENSEMBL: ENSMUSP00000099983 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102919
AA Change: L2229Q

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: L2229Q

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

100% (47/47)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933421I07Rik	C	T	7: 42,097,413 (GRCm39)	R27H	probably benign	Het
Adamts4	A	T	1: 171,086,541 (GRCm39)	T778S	probably damaging	Het
AY358078	T	G	14: 52,059,597 (GRCm39)	Y311*	probably null	Het
Catsperg1	C	T	7: 28,897,825 (GRCm39)	V181M	probably damaging	Het
Cdcp3	C	A	7: 130,837,688 (GRCm39)	S528*	probably null	Het
Cep70	A	G	9: 99,145,842 (GRCm39)	K170E	possibly damaging	Het
Coro1b	T	A	19: 4,199,527 (GRCm39)	V62E	probably damaging	Het
Dnajc11	T	C	4: 152,065,183 (GRCm39)	*560Q	probably null	Het
Eci3	T	C	13: 35,143,874 (GRCm39)	N84D	probably damaging	Het
F5	T	A	1: 164,045,111 (GRCm39)	V2133E	probably benign	Het
Fancl	C	A	11: 26,420,826 (GRCm39)	P116Q		Het
Gm10801	ATTTTCAGTTTTCTTGCCATATTCCACGTCCTGCACTGGACATTTCTAAATTTTCCACCTTTTTCAGTTTTC	ATTTTCAGTTTTC	2: 98,492,669 (GRCm39)		probably null	Het
Golgb1	C	T	16: 36,734,764 (GRCm39)	T1378M	possibly damaging	Het
Hdac5	T	C	11: 102,096,147 (GRCm39)	N342S	probably benign	Het
Herc3	A	G	6: 58,864,561 (GRCm39)	K732E	probably damaging	Het
Lce1e	A	T	3: 92,615,269 (GRCm39)	I26N	unknown	Het
Lingo1	T	C	9: 56,528,106 (GRCm39)	Y167C	probably damaging	Het
Loxl3	A	G	6: 83,012,566 (GRCm39)	E35G	probably benign	Het
Mmp13	A	G	9: 7,282,089 (GRCm39)	M464V	possibly damaging	Het
Mov10	T	C	3: 104,711,690 (GRCm39)	H199R	probably benign	Het
Nbas	A	G	12: 13,386,368 (GRCm39)	T765A	probably damaging	Het
Nlgn3	C	T	X: 100,363,425 (GRCm39)	R679*	probably null	Het
Nrp1	C	T	8: 129,085,885 (GRCm39)		probably benign	Het
Nup88	C	A	11: 70,860,687 (GRCm39)	V31L	probably benign	Het
Or2r11	T	C	6: 42,437,827 (GRCm39)	N42S	probably damaging	Het
Or5d39	T	C	2: 87,979,872 (GRCm39)	T164A	probably benign	Het
Or7a36	A	T	10: 78,820,212 (GRCm39)	D196V	probably benign	Het
Pah	A	G	10: 87,414,827 (GRCm39)	N393S	probably benign	Het
Peli3	T	C	19: 4,985,022 (GRCm39)	Y163C	probably damaging	Het
Rasgef1b	A	T	5: 99,524,994 (GRCm39)	M55K	probably benign	Het
Ror2	T	C	13: 53,264,302 (GRCm39)	D930G	possibly damaging	Het
Rpgrip1l	T	G	8: 92,000,329 (GRCm39)	M537L	probably benign	Het
Ryr2	A	T	13: 11,702,875 (GRCm39)	V2871E	probably damaging	Het
Smco1	A	T	16: 32,092,841 (GRCm39)	N171Y	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Sox2	T	A	3: 34,705,016 (GRCm39)	L151Q	probably benign	Het
Spink5	A	G	18: 44,143,305 (GRCm39)	E754G	probably benign	Het
Sulf1	A	T	1: 12,867,004 (GRCm39)	M63L	probably benign	Het
Traf2	A	G	2: 25,410,458 (GRCm39)	M390T	probably damaging	Het
Trav13d-4	T	C	14: 53,310,266 (GRCm39)	V16A	probably damaging	Het
Trmo	T	C	4: 46,386,253 (GRCm39)		probably null	Het
Trmo	C	T	4: 46,386,251 (GRCm39)	W84*	probably null	Het
Ttyh1	T	A	7: 4,133,791 (GRCm39)		probably benign	Het
Ush2a	A	G	1: 188,643,220 (GRCm39)	N4194S	possibly damaging	Het
Vmn2r45	T	C	7: 8,486,511 (GRCm39)	Y259C	probably damaging	Het
Vmn2r94	T	A	17: 18,497,912 (GRCm39)		probably benign	Het
Zfp101	A	G	17: 33,600,977 (GRCm39)	S260P	possibly 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
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
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

PCR Primer
(F):5'- CACAGCCATTGCCCTCATTG -3'
(R):5'- ACCTGTTCTTAAGGTGCTGG -3'

Sequencing Primer
(F):5'- CTGTGTCTCTGGCTGAA -3'
(R):5'- TAAGGTGCTGGATGCTGCCC -3'

Posted On

2021-03-08