Mutagenetix > Incidental Mutation

Incidental Mutation 'R2323:Abca2'

244793

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

040314-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2323 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

25318715-25338552 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 25335187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 2008 (M2008I)

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: M2008I

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

SMART Domains

Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: M2008I

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,743,298 (GRCm39)	S68P	probably damaging	Het
Albfm1	T	A	5: 90,732,711 (GRCm39)	Y507*	probably null	Het
Anks3	T	C	16: 4,768,634 (GRCm39)		probably null	Het
Asap2	T	C	12: 21,253,969 (GRCm39)	I160T	probably damaging	Het
Asb15	T	A	6: 24,556,600 (GRCm39)	F32I	probably benign	Het
Catip	A	T	1: 74,402,437 (GRCm39)	M103L	probably benign	Het
Cela2a	G	C	4: 141,553,390 (GRCm39)		probably benign	Het
Crebrf	T	C	17: 26,982,581 (GRCm39)		probably benign	Het
Dnah10	T	C	5: 124,819,064 (GRCm39)	M450T	probably damaging	Het
Dst	T	C	1: 34,267,518 (GRCm39)	S5165P	possibly damaging	Het
Esrp2	T	A	8: 106,860,934 (GRCm39)	D196V	probably benign	Het
Hmox2	A	T	16: 4,583,720 (GRCm39)	K263*	probably null	Het
Ints10	A	G	8: 69,271,997 (GRCm39)	H566R	probably benign	Het
Ints12	G	A	3: 132,815,126 (GRCm39)	M444I	possibly damaging	Het
Liph	A	G	16: 21,802,754 (GRCm39)	V105A	probably damaging	Het
Myo1e	T	A	9: 70,286,040 (GRCm39)	Y941*	probably null	Het
Myo7b	T	C	18: 32,104,398 (GRCm39)	E1450G	probably damaging	Het
Myt1	G	T	2: 181,448,350 (GRCm39)	A594S	probably damaging	Het
Npas3	T	A	12: 54,115,129 (GRCm39)	Y666N	probably damaging	Het
Npsr1	A	G	9: 24,211,732 (GRCm39)	K240E	probably damaging	Het
Or52h7	T	C	7: 104,213,826 (GRCm39)	F133L	probably benign	Het
Rtkn2	A	G	10: 67,837,764 (GRCm39)	I102M	probably damaging	Het
Rundc1	T	C	11: 101,316,101 (GRCm39)	F58L	probably damaging	Het
Snrpc	T	G	17: 28,066,948 (GRCm39)	M91R	unknown	Het
Tgfbr2	T	C	9: 115,939,212 (GRCm39)	K205R	possibly damaging	Het
Tmem181a	T	A	17: 6,346,061 (GRCm39)	L185H	probably damaging	Het
Tnfrsf21	C	A	17: 43,396,420 (GRCm39)	S568*	probably null	Het
Tulp1	C	T	17: 28,581,456 (GRCm39)	G239D	probably damaging	Het
Vmn1r234	T	C	17: 21,449,965 (GRCm39)	I293T	probably benign	Het
Vmn1r26	T	C	6: 57,985,842 (GRCm39)	K116E	probably damaging	Het
Vmn2r98	T	A	17: 19,286,081 (GRCm39)	I193K	probably benign	Het
Wnk4	T	A	11: 101,159,307 (GRCm39)	S575T	probably damaging	Het
Zfp558	A	T	9: 18,380,573 (GRCm39)		probably null	Het
Zscan18	T	C	7: 12,509,386 (GRCm39)		probably benign	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
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

PCR Primer
(F):5'- TCCTTGACTCTTAAGTTCCAAGAAC -3'
(R):5'- GTCATTGTCAGCATCGCCAC -3'

Sequencing Primer
(F):5'- CTCTTAAGTTCCAAGAACAACGGGG -3'
(R):5'- GAGCACTCTCTGTCGCTCACTAG -3'

Posted On

2014-10-30