Incidental Mutation 'R4431:Abca2'
ID 328594
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 041146-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4431 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25318715-25338552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25332864 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1521 (D1521G)
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: D1521G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: D1521G

DomainStartEndE-ValueType
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 0.2170 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (52/52)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
2510039O18Rik T C 4: 148,026,022 (GRCm39) S181P probably benign Het
4930522L14Rik A T 5: 109,884,440 (GRCm39) C473S possibly damaging Het
4930523C07Rik A T 1: 159,872,149 (GRCm39) noncoding transcript Het
Aak1 A G 6: 86,963,300 (GRCm39) K910R unknown Het
Adamts20 C A 15: 94,241,924 (GRCm39) D695Y probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bltp3a A G 17: 28,104,905 (GRCm39) N533S probably damaging Het
Bspry T A 4: 62,400,904 (GRCm39) I132N possibly damaging Het
Cfap300 A G 9: 8,027,178 (GRCm39) V120A probably damaging Het
Cfh T C 1: 140,064,004 (GRCm39) Y424C probably damaging Het
Chd2 T C 7: 73,085,709 (GRCm39) R1642G possibly damaging Het
Chrm2 A G 6: 36,501,097 (GRCm39) D318G probably benign Het
Chrna4 A G 2: 180,670,413 (GRCm39) S448P probably damaging Het
Cldn8 A C 16: 88,359,619 (GRCm39) M102R probably damaging Het
Dock8 T C 19: 25,042,754 (GRCm39) V112A probably benign Het
Fbxo42 C A 4: 140,927,861 (GRCm39) R714S probably damaging Het
Fmo1 G A 1: 162,661,281 (GRCm39) A334V possibly damaging Het
Gpr68 A T 12: 100,865,650 (GRCm39) probably benign Het
Gramd4 A G 15: 86,014,361 (GRCm39) K345R probably damaging Het
Gtpbp1 T G 15: 79,600,398 (GRCm39) S444A probably damaging Het
Ints12 T C 3: 132,808,242 (GRCm39) Y207H probably damaging Het
Kat2b-ps A T 5: 93,540,443 (GRCm39) noncoding transcript Het
Klhl25 T A 7: 75,515,162 (GRCm39) F23I probably damaging Het
Lamc1 A G 1: 153,097,274 (GRCm39) I1590T probably damaging Het
Lhfpl4 A G 6: 113,170,805 (GRCm39) I127T possibly damaging Het
Lrrc71 A G 3: 87,650,143 (GRCm39) S286P possibly damaging Het
Man1c1 A T 4: 134,430,329 (GRCm39) V151D probably damaging Het
Mipol1 G A 12: 57,350,310 (GRCm39) R36Q possibly damaging Het
Nuggc T A 14: 65,848,659 (GRCm39) W187R probably benign Het
Or4a71 A G 2: 89,357,987 (GRCm39) Y256H probably damaging Het
Pkhd1 G A 1: 20,593,538 (GRCm39) T1525I probably damaging Het
Pomp A G 5: 147,812,289 (GRCm39) E125G probably damaging Het
Ptar1 G T 19: 23,671,695 (GRCm39) G33C probably damaging Het
Ptpn3 A G 4: 57,235,355 (GRCm39) S335P probably damaging Het
Pus7 A G 5: 23,951,487 (GRCm39) Y521H probably benign Het
Shank1 C T 7: 43,969,076 (GRCm39) R324* probably null Het
Slc12a3 A T 8: 95,069,713 (GRCm39) I541F probably damaging Het
Slc12a9 G A 5: 137,319,775 (GRCm39) P580L probably benign Het
Spz1 A G 13: 92,711,837 (GRCm39) L213P probably damaging Het
Strn A G 17: 79,043,891 (GRCm39) V9A probably damaging Het
Sytl5 A T X: 9,826,262 (GRCm39) N412Y probably damaging Het
Tert T A 13: 73,775,594 (GRCm39) F115Y probably damaging Het
Tmem67 T A 4: 12,051,473 (GRCm39) N785I possibly damaging Het
Trf T C 9: 103,089,075 (GRCm39) N243S possibly damaging Het
Ttc3 T C 16: 94,211,817 (GRCm39) probably null Het
Vmn2r22 T C 6: 123,614,817 (GRCm39) T258A possibly damaging Het
Vps13b A C 15: 35,770,899 (GRCm39) Q2114P probably damaging Het
Wdfy1 T A 1: 79,691,583 (GRCm39) R275* probably null Het
Wnt2b A G 3: 104,860,256 (GRCm39) L217S probably damaging Het
Other mutations in Abca2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- ATAACTGCAGTCTGCTCAGG -3'
(R):5'- GACTCCAGGCACATACTGTC -3'

Sequencing Primer
(F):5'- AGGTCTCCGTATTCACCCATCAG -3'
(R):5'- TACTGTCGAAGAACCGTGC -3'
Posted On 2015-07-21