Incidental Mutation 'R7487:Abca2'
ID 580219
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 045561-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7487 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25318715-25338552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25327915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 739 (T739M)
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: T739M

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: T739M

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 100% (89/89)
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: 87 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A T 3: 137,772,629 (GRCm39) D606V probably damaging Het
1700009N14Rik T A 4: 39,450,929 (GRCm39) V45E probably damaging Het
2510009E07Rik C T 16: 21,472,479 (GRCm39) V74M probably damaging Het
Abra T C 15: 41,732,949 (GRCm39) E39G probably damaging Het
Adam34 A T 8: 44,104,191 (GRCm39) C485S probably damaging Het
Add2 G T 6: 86,070,432 (GRCm39) V175F possibly damaging Het
Alk T A 17: 72,256,893 (GRCm39) K655N probably benign Het
Ap3m1 A G 14: 21,088,107 (GRCm39) V317A probably benign Het
Astn1 A G 1: 158,438,352 (GRCm39) probably null Het
Atm A T 9: 53,435,654 (GRCm39) Y219N probably benign Het
Cep128 C T 12: 90,966,404 (GRCm39) A1068T probably benign Het
Cep20 T C 16: 14,128,968 (GRCm39) D85G probably benign Het
Cnksr3 T C 10: 7,085,097 (GRCm39) Q250R probably benign Het
Cst7 A G 2: 150,419,624 (GRCm39) T97A probably benign Het
Ctps1 G A 4: 120,415,997 (GRCm39) L209F probably damaging Het
Cyp2d10 A T 15: 82,288,793 (GRCm39) F230I probably benign Het
Daam2 T C 17: 49,793,510 (GRCm39) N336D probably benign Het
Dchs2 T C 3: 83,263,613 (GRCm39) S3294P probably damaging Het
Dhx36 G T 3: 62,391,623 (GRCm39) N574K possibly damaging Het
Dock10 G T 1: 80,562,765 (GRCm39) Q533K probably benign Het
Dync2h1 A G 9: 7,132,041 (GRCm39) S1589P probably benign Het
Enpp3 T A 10: 24,681,821 (GRCm39) Y295F probably benign Het
Esrrg T A 1: 187,878,620 (GRCm39) Y234N probably benign Het
Fadd A C 7: 144,134,462 (GRCm39) V141G probably damaging Het
Fam114a2 C T 11: 57,404,515 (GRCm39) G83D probably damaging Het
Fam170b T A 14: 32,557,776 (GRCm39) C204S probably damaging Het
Fam186a T A 15: 99,840,017 (GRCm39) I2076F possibly damaging Het
Fdxacb1 G A 9: 50,681,519 (GRCm39) V147I possibly damaging Het
Frem2 C A 3: 53,561,970 (GRCm39) V846F probably benign Het
Fry G A 5: 150,338,039 (GRCm39) S1449N possibly damaging Het
Gucy1b2 A G 14: 62,685,672 (GRCm39) F98L probably damaging Het
Hps1 T C 19: 42,744,700 (GRCm39) Y658C probably damaging Het
Igkv3-9 T A 6: 70,565,506 (GRCm39) L35Q probably damaging Het
Irx2 A G 13: 72,778,739 (GRCm39) Y101C probably damaging Het
Kcnj11 G T 7: 45,748,265 (GRCm39) R353S probably benign Het
Kyat3 C T 3: 142,431,955 (GRCm39) Q228* probably null Het
Lama3 T A 18: 12,552,294 (GRCm39) D415E probably benign Het
Lcn3 G A 2: 25,656,174 (GRCm39) probably null Het
Lin7b T C 7: 45,019,364 (GRCm39) E68G possibly damaging Het
Lmbr1 T A 5: 29,459,262 (GRCm39) K379M probably benign Het
Lrig1 A G 6: 94,583,099 (GRCm39) S1006P probably benign Het
Lrrc37a T G 11: 103,389,045 (GRCm39) T2127P unknown Het
Map4 A G 9: 109,856,783 (GRCm39) D151G probably damaging Het
Marchf1 A T 8: 66,908,726 (GRCm39) T149S probably benign Het
Msh4 A T 3: 153,569,147 (GRCm39) F809I probably damaging Het
Muc16 G A 9: 18,496,095 (GRCm39) P6699S possibly damaging Het
Mxi1 A T 19: 53,360,088 (GRCm39) D270V probably damaging Het
Myh6 A T 14: 55,190,953 (GRCm39) C907* probably null Het
Myo18b T C 5: 112,982,299 (GRCm39) R1145G possibly damaging Het
Nkx2-6 A C 14: 69,409,389 (GRCm39) N47H probably benign Het
Nol7 G A 13: 43,552,076 (GRCm39) A66T probably damaging Het
Ntrk3 T C 7: 77,900,461 (GRCm39) N626S probably damaging Het
Nwd1 A G 8: 73,393,266 (GRCm39) Y77C unknown Het
Or12d17 G T 17: 37,777,457 (GRCm39) R120L probably damaging Het
Or12k5 A C 2: 36,894,786 (GRCm39) V280G probably damaging Het
Or8c14-ps1 A G 9: 38,101,356 (GRCm39) S112G probably damaging Het
Or8j3b A T 2: 86,205,475 (GRCm39) Y94N probably damaging Het
Or9s23 G A 1: 92,501,517 (GRCm39) G208D possibly damaging Het
Otop3 A G 11: 115,235,826 (GRCm39) D486G probably benign Het
Pak1ip1 A G 13: 41,162,731 (GRCm39) K178R probably benign Het
Pcsk1 G A 13: 75,259,002 (GRCm39) G259S probably benign Het
Pde6a A G 18: 61,383,031 (GRCm39) D338G probably damaging Het
Pias4 A T 10: 80,999,806 (GRCm39) D82E probably benign Het
Plekha5 C A 6: 140,516,059 (GRCm39) Q771K probably benign Het
Plekhh3 C A 11: 101,056,405 (GRCm39) A397S possibly damaging Het
Prg4 G T 1: 150,331,656 (GRCm39) T339N unknown Het
Prss22 A T 17: 24,216,971 (GRCm39) I3N probably damaging Het
Rasgrp1 T C 2: 117,118,424 (GRCm39) I522V probably damaging Het
Rspo2 T C 15: 42,941,510 (GRCm39) T138A probably benign Het
Rtcb C T 10: 85,789,333 (GRCm39) G70S probably benign Het
Selenov A T 7: 27,989,803 (GRCm39) S234T probably damaging Het
Shtn1 T C 19: 58,992,292 (GRCm39) T429A probably damaging Het
Slc4a3 G T 1: 75,530,021 (GRCm39) R622L probably benign Het
Smc2 T C 4: 52,478,448 (GRCm39) I1015T probably damaging Het
Spata9 G T 13: 76,115,959 (GRCm39) V3F possibly damaging Het
Tlr4 T C 4: 66,842,659 (GRCm39) I105T probably benign Het
Trav6d-4 A T 14: 52,991,096 (GRCm39) Y47F possibly damaging Het
Ttn A T 2: 76,657,377 (GRCm39) I12450N unknown Het
Umad1 G T 6: 8,270,560 (GRCm39) A21S probably damaging Het
Unc5a G A 13: 55,144,362 (GRCm39) R229H probably benign Het
Vmn1r216 A T 13: 23,284,030 (GRCm39) M238L probably damaging Het
Vps16 T A 2: 130,280,977 (GRCm39) C255* probably null Het
Wdr89 A G 12: 75,679,388 (GRCm39) F289L probably benign Het
Zfp180 A T 7: 23,805,525 (GRCm39) H648L probably damaging Het
Zfp735 A G 11: 73,581,154 (GRCm39) K64E possibly damaging Het
Zfp990 G A 4: 145,264,157 (GRCm39) C385Y probably damaging Het
Zswim3 G T 2: 164,662,135 (GRCm39) S205I 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
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
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'- TGAACACATGATGCCATTGTG -3'
(R):5'- ACATGATAGTGGCCACAGCG -3'

Sequencing Primer
(F):5'- GGTCTACTCTGTGGCCATGAC -3'
(R):5'- TAGTGGCCACAGCGTAGAC -3'
Posted On 2019-10-07