Incidental Mutation 'IGL02572:Abca2'
ID 299032
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Abca2
Ensembl Gene ENSMUSG00000026944
Gene Name ATP-binding cassette, sub-family A member 2
Synonyms Abc2, D2H0S1474E
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02572
Quality Score
Status
Chromosome 2
Chromosomal Location 25318715-25338552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25323329 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 99 (L99P)
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: L99P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: L99P

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
Coding Region Coverage
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A630001G21Rik T C 1: 85,652,892 (GRCm39) N92S probably damaging Het
Adam19 T A 11: 46,022,548 (GRCm39) Y500* probably null Het
Amy1 A T 3: 113,358,722 (GRCm39) probably benign Het
Aox3 T C 1: 58,197,526 (GRCm39) I624T probably damaging Het
Atad3a C T 4: 155,838,041 (GRCm39) D244N possibly damaging Het
Atp5mf C A 5: 145,124,047 (GRCm39) probably benign Het
Bbof1 G A 12: 84,475,139 (GRCm39) D443N probably damaging Het
Bod1l G A 5: 41,978,573 (GRCm39) Q914* probably null Het
C330011M18Rik A G 8: 84,793,208 (GRCm39) probably benign Het
Cgref1 A G 5: 31,090,911 (GRCm39) V301A probably benign Het
Coa6 T C 8: 127,149,480 (GRCm39) Y19H probably damaging Het
Cop1 T A 1: 159,136,448 (GRCm39) probably benign Het
Dmrta1 T C 4: 89,579,795 (GRCm39) S252P probably benign Het
Dnaaf5 T G 5: 139,170,384 (GRCm39) S484A probably benign Het
Dspp A T 5: 104,324,935 (GRCm39) S433C probably damaging Het
Efcab5 G A 11: 77,028,714 (GRCm39) R206* probably null Het
Epop A T 11: 97,519,027 (GRCm39) S361T probably benign Het
Fat3 T A 9: 15,871,802 (GRCm39) T3530S probably benign Het
Flvcr1 A G 1: 190,757,843 (GRCm39) Y108H probably damaging Het
Fsip2 T G 2: 82,822,347 (GRCm39) S6027A probably benign Het
Galnt14 A G 17: 73,842,262 (GRCm39) L209P probably damaging Het
Hif3a C A 7: 16,784,513 (GRCm39) R25L probably null Het
Hsf5 A G 11: 87,522,521 (GRCm39) probably benign Het
Il22ra2 A T 10: 19,502,492 (GRCm39) T104S probably benign Het
Klrk1 A G 6: 129,592,316 (GRCm39) S138P probably damaging Het
Lrp5 G T 19: 3,664,283 (GRCm39) Q815K probably benign Het
Morn4 A G 19: 42,064,886 (GRCm39) probably benign Het
Nlrp14 T A 7: 106,781,929 (GRCm39) Y375* probably null Het
Nsd1 T A 13: 55,443,943 (GRCm39) M1714K probably damaging Het
Or2aj6 T A 16: 19,443,848 (GRCm39) M1L probably benign Het
Or5aq7 G A 2: 86,938,710 (GRCm39) T7I possibly damaging Het
Or6c213 T A 10: 129,574,735 (GRCm39) D17V possibly damaging Het
Pappa2 C T 1: 158,678,786 (GRCm39) A877T probably benign Het
Pcsk2 G A 2: 143,532,262 (GRCm39) A137T probably damaging Het
Piezo1 A G 8: 123,212,044 (GRCm39) V2054A probably benign Het
Rad52 A G 6: 119,892,188 (GRCm39) probably benign Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rusf1 A T 7: 127,889,752 (GRCm39) probably benign Het
Sbno1 A G 5: 124,519,740 (GRCm39) probably benign Het
Scrn1 C T 6: 54,489,186 (GRCm39) D312N probably benign Het
Sin3b A G 8: 73,471,109 (GRCm39) Q352R probably benign Het
Slc25a28 A G 19: 43,652,885 (GRCm39) Y259H probably damaging Het
Sppl2a T C 2: 126,768,216 (GRCm39) M151V probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stra8 G A 6: 34,916,094 (GRCm39) D280N probably damaging Het
Thbs2 A T 17: 14,897,275 (GRCm39) D744E possibly damaging Het
Tiparp A G 3: 65,439,310 (GRCm39) T27A probably benign Het
Tmem38a T C 8: 73,333,818 (GRCm39) F99S probably damaging Het
Tmod3 T C 9: 75,416,667 (GRCm39) T222A probably benign Het
Tnn A G 1: 159,913,677 (GRCm39) I1272T probably damaging Het
Tnpo1 A T 13: 98,985,667 (GRCm39) I829N probably damaging Het
Trpm5 A T 7: 142,641,613 (GRCm39) probably benign Het
Ttn A G 2: 76,598,215 (GRCm39) V19566A probably damaging Het
V1ra8 A G 6: 90,180,040 (GRCm39) D81G probably damaging Het
Zdhhc20 A G 14: 58,127,564 (GRCm39) V25A probably benign 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
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
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
Posted On 2015-04-16