Incidental Mutation 'R4180:Abca2'
ID 319671
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 041016-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4180 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25318715-25338552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25331590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 1326 (S1326P)
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: S1326P

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: S1326P

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 0.0719 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (52/54)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T G 5: 8,199,218 (GRCm39) D246A probably damaging Het
Bmf T C 2: 118,363,018 (GRCm39) probably benign Het
Cd300lf T C 11: 115,015,089 (GRCm39) Y160C possibly damaging Het
Chuk G A 19: 44,090,279 (GRCm39) A71V probably benign Het
Col19a1 C T 1: 24,309,473 (GRCm39) G1060E probably damaging Het
Dock7 A G 4: 98,904,973 (GRCm39) V634A probably benign Het
Dpm3 A G 3: 89,174,039 (GRCm39) probably benign Het
Dqx1 A G 6: 83,036,460 (GRCm39) T155A probably benign Het
Dysf G A 6: 84,163,491 (GRCm39) probably null Het
Fam184b T C 5: 45,697,106 (GRCm39) E686G probably benign Het
Fhad1 T A 4: 141,712,854 (GRCm39) D195V possibly damaging Het
Glis2 T C 16: 4,429,240 (GRCm39) S148P probably benign Het
Gm8587 C T 12: 88,056,516 (GRCm39) noncoding transcript Het
Gon7 A G 12: 102,720,363 (GRCm39) S90P probably benign Het
Haus6 A T 4: 86,501,811 (GRCm39) W687R probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Idh3g A T X: 72,825,610 (GRCm39) probably null Het
Ints9 T C 14: 65,230,430 (GRCm39) L119P probably damaging Het
Itga9 T C 9: 118,436,146 (GRCm39) Y51H probably damaging Het
Klf17 T A 4: 117,616,383 (GRCm39) H316L probably benign Het
Klf4 C T 4: 55,530,884 (GRCm39) G26R possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lhcgr A G 17: 89,049,711 (GRCm39) V605A probably damaging Het
Mafa T C 15: 75,619,413 (GRCm39) Y120C possibly damaging Het
Map3k20 A G 2: 72,271,915 (GRCm39) Y681C probably damaging Het
Nub1 T C 5: 24,897,875 (GRCm39) I87T probably damaging Het
Or1ak2 T A 2: 36,827,242 (GRCm39) V37D probably damaging Het
Pak2 C G 16: 31,871,005 (GRCm39) G59A probably benign Het
Pdzrn4 T A 15: 92,299,898 (GRCm39) V256D possibly damaging Het
Pkd2l1 T C 19: 44,180,620 (GRCm39) N32D probably benign Het
Plec T C 15: 76,064,415 (GRCm39) K1953R possibly damaging Het
Plekhg4 T A 8: 106,108,030 (GRCm39) V1029E possibly damaging Het
Prkcd A G 14: 30,332,261 (GRCm39) probably benign Het
Rgcc T C 14: 79,538,155 (GRCm39) S79G probably benign Het
Sspo T C 6: 48,475,329 (GRCm39) probably null Het
Stxbp5l A T 16: 37,068,242 (GRCm39) C315S probably benign Het
Tc2n A G 12: 101,631,954 (GRCm39) L301P probably damaging Het
Tcerg1l T C 7: 137,878,405 (GRCm39) probably null Het
Tex12 T C 9: 50,470,587 (GRCm39) probably null Het
Tgm5 T C 2: 120,907,442 (GRCm39) I94V probably benign Het
Tonsl A G 15: 76,508,675 (GRCm39) L26P probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Trbv4 A C 6: 41,036,646 (GRCm39) D57A possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Tuba4a T C 1: 75,192,426 (GRCm39) D396G probably benign Het
Txnrd2 C G 16: 18,245,175 (GRCm39) probably null Het
Zfp445 T C 9: 122,681,589 (GRCm39) N784S probably benign Het
Zfp459 G T 13: 67,556,562 (GRCm39) L174I 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
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
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'- TGTCCCAGTTCATCCGCAAG -3'
(R):5'- TCTAATTCACATACCTACTCACAGG -3'

Sequencing Primer
(F):5'- AGTTCATCCGCAAGCATGTG -3'
(R):5'- TACTCACAGGTAGGCAGAGCTAC -3'
Posted On 2015-06-10