Incidental Mutation 'R1699:Abca2'
ID 192470
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 039732-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1699 (G1)
Quality Score 210
Status Not validated
Chromosome 2
Chromosomal Location 25318715-25338552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25337363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 2406 (E2406G)
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: E2406G

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: E2406G

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: ENSMUST00000199405
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150550
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.3%
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: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam6b T A 12: 113,454,205 (GRCm39) F341I probably benign Het
Adam8 A T 7: 139,563,224 (GRCm39) N767K possibly damaging Het
Aig1 T C 10: 13,744,366 (GRCm39) D46G possibly damaging Het
Alms1 A G 6: 85,599,862 (GRCm39) I2032V possibly damaging Het
Ankrd16 A G 2: 11,789,204 (GRCm39) I264V probably benign Het
Areg T G 5: 91,291,357 (GRCm39) V100G probably damaging Het
Bcan A G 3: 87,896,543 (GRCm39) Y718H probably damaging Het
Brsk2 T A 7: 141,539,200 (GRCm39) I188N probably damaging Het
Cdt1 T C 8: 123,296,722 (GRCm39) Y203H probably damaging Het
Cfap119 A T 7: 127,186,028 (GRCm39) probably null Het
Chil3 A C 3: 106,067,682 (GRCm39) probably null Het
Ciao2b A G 8: 105,366,718 (GRCm39) V132A probably damaging Het
Cimip2c A G 5: 30,641,210 (GRCm39) probably null Het
Cth A G 3: 157,613,073 (GRCm39) L253P probably damaging Het
Cyp11b1 A G 15: 74,712,666 (GRCm39) F132L possibly damaging Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dnah11 A G 12: 118,154,603 (GRCm39) S226P probably damaging Het
Egfr A T 11: 16,809,019 (GRCm39) Q71L probably benign Het
Eml6 T A 11: 29,696,282 (GRCm39) K1940* probably null Het
Epn2 T A 11: 61,414,014 (GRCm39) K391* probably null Het
Erich1 A T 8: 14,140,259 (GRCm39) S2T possibly damaging Het
Evi5 A C 5: 107,966,786 (GRCm39) L245R probably damaging Het
Evpl T C 11: 116,118,414 (GRCm39) Y731C probably damaging Het
Exoc3l G A 8: 106,021,645 (GRCm39) H128Y probably benign Het
Extl1 G A 4: 134,091,894 (GRCm39) Q320* probably null Het
Fam91a1 T A 15: 58,304,797 (GRCm39) S416T probably benign Het
Fat3 A T 9: 15,849,694 (GRCm39) S3903T probably damaging Het
Fer1l4 A G 2: 155,871,605 (GRCm39) F1392L probably benign Het
Fstl4 T C 11: 53,059,005 (GRCm39) I488T possibly damaging Het
Gak A T 5: 108,752,243 (GRCm39) Y338* probably null Het
Garin4 T A 1: 190,896,018 (GRCm39) E208D probably benign Het
Glp2r T C 11: 67,648,367 (GRCm39) T112A probably benign Het
Glrb G A 3: 80,769,081 (GRCm39) T180I probably damaging Het
Gm10118 C T 10: 63,762,671 (GRCm39) probably benign Het
Gpr19 A T 6: 134,847,192 (GRCm39) F72I possibly damaging Het
Grin3b C A 10: 79,811,716 (GRCm39) N740K probably damaging Het
Gstk1 A T 6: 42,223,535 (GRCm39) T42S probably benign Het
Hoxd1 G A 2: 74,594,626 (GRCm39) A294T probably benign Het
Hspg2 T A 4: 137,275,323 (GRCm39) probably null Het
Ift74 A T 4: 94,573,940 (GRCm39) N472I probably benign Het
Il1a C T 2: 129,144,813 (GRCm39) D202N probably damaging Het
Islr T C 9: 58,064,778 (GRCm39) D243G probably damaging Het
Kif21a C T 15: 90,843,946 (GRCm39) E1098K probably damaging Het
Krtap16-1 T C 11: 99,876,852 (GRCm39) E184G probably damaging Het
Lrp1b A G 2: 41,075,974 (GRCm39) I1889T possibly damaging Het
Mcpt4 A G 14: 56,297,416 (GRCm39) *247Q probably null Het
Megf10 T C 18: 57,410,802 (GRCm39) probably null Het
Mettl2 T A 11: 105,030,544 (GRCm39) H373Q probably benign Het
Mocos A G 18: 24,816,273 (GRCm39) K617E probably damaging Het
Ms4a8a A G 19: 11,053,761 (GRCm39) I115T probably damaging Het
Ndst1 T C 18: 60,828,580 (GRCm39) Y658C probably damaging Het
Nin G A 12: 70,077,712 (GRCm39) A1031V probably benign Het
Nin C A 12: 70,092,337 (GRCm39) K657N possibly damaging Het
Noc4l G A 5: 110,797,713 (GRCm39) R344* probably null Het
Notch2 T C 3: 98,052,443 (GRCm39) S1980P probably damaging Het
Npat C T 9: 53,473,960 (GRCm39) S584L probably benign Het
Nphp4 A G 4: 152,581,121 (GRCm39) T102A probably damaging Het
Olfml2b A G 1: 170,472,642 (GRCm39) N51S possibly damaging Het
Or2n1e A G 17: 38,585,932 (GRCm39) K90R probably benign Het
Or2y16 T A 11: 49,335,116 (GRCm39) I146N possibly damaging Het
Or5al1 T C 2: 85,990,280 (GRCm39) I145V probably benign Het
Or5w22 A G 2: 87,362,427 (GRCm39) T17A probably benign Het
Pced1b T A 15: 97,282,758 (GRCm39) W266R probably damaging Het
Pdcd6ip A G 9: 113,507,422 (GRCm39) V378A probably damaging Het
Pde8b T A 13: 95,169,374 (GRCm39) K683N probably damaging Het
Pfas T G 11: 68,888,872 (GRCm39) probably null Het
Pirb A T 7: 3,720,637 (GRCm39) L287Q probably benign Het
Plcd4 T G 1: 74,587,394 (GRCm39) S51R probably benign Het
Plekhh2 T A 17: 84,884,612 (GRCm39) Y775* probably null Het
Polr3a G A 14: 24,534,232 (GRCm39) P91L probably damaging Het
Ppp4r3b C T 11: 29,163,765 (GRCm39) T47I possibly damaging Het
Pter A T 2: 12,999,572 (GRCm39) D169V probably damaging Het
Ptpn12 A G 5: 21,203,168 (GRCm39) S537P probably benign Het
Ptpru T A 4: 131,506,361 (GRCm39) D1067V probably damaging Het
Rcn1 A T 2: 105,229,350 (GRCm39) D67E probably damaging Het
Rfc4 T C 16: 22,932,983 (GRCm39) E318G probably benign Het
Samd13 C A 3: 146,368,469 (GRCm39) R41L probably benign Het
Shoc1 T C 4: 59,113,926 (GRCm39) K13R unknown Het
Slc6a2 T C 8: 93,699,440 (GRCm39) I156T possibly damaging Het
Spag16 T C 1: 70,036,015 (GRCm39) F348L probably benign Het
Spag4 T C 2: 155,907,342 (GRCm39) Y21H probably damaging Het
Stam2 G A 2: 52,593,187 (GRCm39) A368V possibly damaging Het
Stc1 A T 14: 69,275,776 (GRCm39) M190L probably benign Het
Stxbp1 A G 2: 32,690,629 (GRCm39) L475P probably damaging Het
Syn3 A T 10: 85,916,075 (GRCm39) Y304N probably damaging Het
Tbc1d15 G T 10: 115,056,219 (GRCm39) T251K probably benign Het
Tbpl2 A T 2: 23,985,057 (GRCm39) M29K probably benign Het
Tead3 T G 17: 28,553,698 (GRCm39) Q170H possibly damaging Het
Tpbpb T C 13: 61,049,977 (GRCm39) N51D probably benign Het
Tstd3 A G 4: 21,759,400 (GRCm39) M124T probably benign Het
Ttyh1 T A 7: 4,122,695 (GRCm39) H14Q possibly damaging Het
Tubgcp4 G A 2: 121,020,374 (GRCm39) W449* probably null Het
Txndc11 A G 16: 10,905,639 (GRCm39) probably null Het
Usp24 T A 4: 106,296,024 (GRCm39) D2615E probably damaging Het
Vars1 A G 17: 35,233,734 (GRCm39) E1020G possibly damaging Het
Vmn2r58 A G 7: 41,509,951 (GRCm39) I542T probably benign Het
Vwf A G 6: 125,620,032 (GRCm39) Y1570C probably damaging Het
Vwf A T 6: 125,662,863 (GRCm39) Y2749F possibly damaging Het
Zfand1 A C 3: 10,406,115 (GRCm39) V198G possibly damaging Het
Zfp536 G A 7: 37,268,879 (GRCm39) T179I probably damaging Het
Zfp599 T C 9: 22,161,700 (GRCm39) Y155C 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
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
Predicted Primers PCR Primer
(F):5'- TGGATTTGCCTGCACCACTCAC -3'
(R):5'- CACCACTGATCTGGGGTCTTCAAAG -3'

Sequencing Primer
(F):5'- CCCAGGTGTTTGTGAACTTTGC -3'
(R):5'- CAAAGCTTGCAGTGAGTTCTG -3'
Posted On 2014-05-14