Incidental Mutation 'R4704:Abca2'
ID 356262
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 041952-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4704 (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 25333424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1683 (L1683P)
Ref Sequence ENSEMBL: ENSMUSP00000099983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102919]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000102919
AA Change: L1683P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: L1683P

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
Meta Mutation Damage Score 0.5099 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (89/92)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,959,259 (GRCm39) M147K probably damaging Het
Abca13 A G 11: 9,226,990 (GRCm39) D582G possibly damaging Het
Adam39 A G 8: 41,278,833 (GRCm39) H408R probably benign Het
Adcy4 A G 14: 56,012,482 (GRCm39) S554P possibly damaging Het
Ahnak T C 19: 8,990,545 (GRCm39) I3943T probably damaging Het
Ahnak T G 19: 8,989,622 (GRCm39) probably benign Het
Alkal2 T A 12: 30,937,195 (GRCm39) S109R probably damaging Het
Apobec4 A G 1: 152,632,001 (GRCm39) T10A probably benign Het
Arhgef40 A G 14: 52,239,767 (GRCm39) N1327S probably damaging Het
Arpc3 A G 5: 122,538,471 (GRCm39) M1V probably null Het
Ascc1 A G 10: 59,885,624 (GRCm39) Y225C probably damaging Het
Ascc3 A G 10: 50,535,110 (GRCm39) I668V probably benign Het
Bdnf T A 2: 109,554,037 (GRCm39) M137K possibly damaging Het
Cacna1b T C 2: 24,544,475 (GRCm39) D1231G probably damaging Het
Cds2 T A 2: 132,142,522 (GRCm39) Y239* probably null Het
Cpped1 G A 16: 11,703,493 (GRCm39) probably benign Het
Ctu2 G A 8: 123,206,042 (GRCm39) R261Q probably damaging Het
Cux1 A G 5: 136,278,055 (GRCm39) V645A probably benign Het
Cyp4f13 A G 17: 33,144,709 (GRCm39) C401R probably damaging Het
Dpt T G 1: 164,646,518 (GRCm39) Y162* probably null Het
Ednra A G 8: 78,394,592 (GRCm39) probably benign Het
Eepd1 A G 9: 25,394,122 (GRCm39) T129A probably benign Het
Eif2s1 A G 12: 78,923,944 (GRCm39) T134A probably benign Het
Eloa A G 4: 135,738,525 (GRCm39) V145A probably benign Het
Enam T A 5: 88,651,650 (GRCm39) L1053* probably null Het
Eng T C 2: 32,568,924 (GRCm39) S484P probably benign Het
Eogt A T 6: 97,090,813 (GRCm39) V442E probably damaging Het
Fam185a C T 5: 21,685,471 (GRCm39) probably benign Het
Gm4922 C T 10: 18,660,567 (GRCm39) V52I probably benign Het
Gnao1 A G 8: 94,538,004 (GRCm39) E14G probably benign Het
Gpr75 C A 11: 30,841,110 (GRCm39) A5D probably benign Het
Hbq1b T A 11: 32,237,448 (GRCm39) probably benign Het
Hdac7 G A 15: 97,694,097 (GRCm39) T724M probably damaging Het
Ifi204 C A 1: 173,587,927 (GRCm39) probably benign Het
Ift88 A G 14: 57,718,307 (GRCm39) probably benign Het
Irak4 A G 15: 94,464,781 (GRCm39) probably null Het
Kalrn T C 16: 34,024,327 (GRCm39) D610G probably damaging Het
Kifc2 T C 15: 76,547,177 (GRCm39) probably null Het
Kmt2c G A 5: 25,519,025 (GRCm39) Q2362* probably null Het
Kntc1 G A 5: 123,949,496 (GRCm39) E1956K probably damaging Het
Lama3 T C 18: 12,686,280 (GRCm39) V2781A probably benign Het
Lipt2 A G 7: 99,809,534 (GRCm39) E207G probably damaging Het
Mag A T 7: 30,608,598 (GRCm39) L172Q probably damaging Het
Map1b A T 13: 99,566,983 (GRCm39) C1913S unknown Het
Mical3 A G 6: 120,935,649 (GRCm39) S1626P probably benign Het
Mslnl G T 17: 25,957,952 (GRCm39) W65L possibly damaging Het
Muc20 G T 16: 32,599,448 (GRCm39) A3332S possibly damaging Het
Nadk C A 4: 155,669,684 (GRCm39) P157T probably benign Het
Nkx2-3 G A 19: 43,601,123 (GRCm39) E62K probably damaging Het
Or6c2 T C 10: 129,362,171 (GRCm39) L25P possibly damaging Het
Pclo A G 5: 14,726,494 (GRCm39) probably benign Het
Pcna-ps2 T A 19: 9,260,786 (GRCm39) V15E possibly damaging Het
Plekhg3 G T 12: 76,625,012 (GRCm39) G1285W probably damaging Het
Pramel29 A T 4: 143,935,162 (GRCm39) I193N probably damaging Het
Procr A G 2: 155,596,258 (GRCm39) S142G probably damaging Het
Ptpn3 A T 4: 57,270,119 (GRCm39) N14K possibly damaging Het
Rin1 C A 19: 5,105,018 (GRCm39) L693I probably damaging Het
Ripk4 C A 16: 97,547,204 (GRCm39) E290* probably null Het
Rnf213 A G 11: 119,331,175 (GRCm39) Y2128C probably damaging Het
Saal1 T C 7: 46,349,164 (GRCm39) probably benign Het
Selplg T C 5: 113,957,094 (GRCm39) D404G probably benign Het
Serpinf1 C A 11: 75,301,867 (GRCm39) A263S probably damaging Het
Sgo2b A T 8: 64,380,824 (GRCm39) D669E probably damaging Het
Slc30a9 T C 5: 67,499,616 (GRCm39) probably benign Het
Sri A T 5: 8,112,430 (GRCm39) probably null Het
Sspo G A 6: 48,475,638 (GRCm39) C4918Y probably damaging Het
Szt2 A G 4: 118,251,026 (GRCm39) Y361H probably damaging Het
Tbc1d12 T A 19: 38,889,781 (GRCm39) W404R probably damaging Het
Tcf20 T C 15: 82,735,928 (GRCm39) E1841G possibly damaging Het
Tep1 T C 14: 51,074,530 (GRCm39) T1832A probably benign Het
Tmem132e G A 11: 82,334,357 (GRCm39) A623T probably damaging Het
Tmem201 A T 4: 149,811,774 (GRCm39) F357Y possibly damaging Het
Trappc13 T G 13: 104,303,329 (GRCm39) probably benign Het
Trav6-5 C T 14: 53,728,883 (GRCm39) Q47* probably null Het
Ubxn1 T A 19: 8,849,399 (GRCm39) D47E probably benign Het
Vmn2r45 G T 7: 8,486,535 (GRCm39) S251* probably null Het
Wnk1 A G 6: 119,942,705 (GRCm39) L774S possibly damaging Het
Zfp189 T C 4: 49,530,081 (GRCm39) S395P 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
R4431:Abca2 UTSW 2 25,332,864 (GRCm39) missense probably benign
R4468:Abca2 UTSW 2 25,334,914 (GRCm39) missense probably damaging 1.00
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'- TCATTGTGCTGCACTGTGCC -3'
(R):5'- CAATCTTCCGCACCATAGGAG -3'

Sequencing Primer
(F):5'- TGTGCCCACAGAGACGTG -3'
(R):5'- CGCACCATAGGAGGGACC -3'
Posted On 2015-10-21