Incidental Mutation 'R5851:Abca2'
ID 454648
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 044067-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5851 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 25318715-25338552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25332322 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1452 (N1452D)
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: N1452D

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: N1452D

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 0.0802 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.0%
Validation Efficiency 100% (75/75)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd15 T C 11: 77,409,273 (GRCm39) L329P probably benign Het
Add3 T C 19: 53,225,205 (GRCm39) S442P probably damaging Het
Arhgef18 T C 8: 3,484,980 (GRCm39) F228L probably damaging Het
Bptf A T 11: 107,001,688 (GRCm39) Y475N probably damaging Het
C3 T C 17: 57,518,612 (GRCm39) N1257S probably null Het
Cdkl1 A T 12: 69,803,338 (GRCm39) Y179* probably null Het
Ceacam1 T C 7: 25,174,025 (GRCm39) N210S possibly damaging Het
Celf3 T A 3: 94,386,433 (GRCm39) I7N probably damaging Het
Clxn T A 16: 14,738,300 (GRCm39) L155H probably damaging Het
Cmpk1 A G 4: 114,844,167 (GRCm39) V55A possibly damaging Het
Csrnp1 C T 9: 119,802,144 (GRCm39) G305D possibly damaging Het
Dnah3 A G 7: 119,638,585 (GRCm39) S1266P possibly damaging Het
Edc4 T C 8: 106,617,499 (GRCm39) L1077P probably damaging Het
Fam174a G A 1: 95,252,868 (GRCm39) G157S probably damaging Het
Fubp3 T A 2: 31,488,622 (GRCm39) D159E probably benign Het
Garem2 C T 5: 30,319,288 (GRCm39) T250M probably damaging Het
H2-Eb1 C T 17: 34,528,745 (GRCm39) P92L probably benign Het
Ifnl3 G T 7: 28,222,936 (GRCm39) C69F probably damaging Het
Itga2b C A 11: 102,348,427 (GRCm39) probably benign Het
Klhl33 A T 14: 51,130,335 (GRCm39) D386E probably damaging Het
Lin9 T A 1: 180,496,763 (GRCm39) L351I probably benign Het
Loricrin G A 3: 91,987,846 (GRCm39) A480V unknown Het
Msh3 G T 13: 92,352,030 (GRCm39) Q1041K probably benign Het
Mtrex G A 13: 113,045,486 (GRCm39) R349W probably damaging Het
Myo1e G A 9: 70,291,086 (GRCm39) G959E probably benign Het
Nfat5 G T 8: 108,074,359 (GRCm39) V338L probably damaging Het
Nrf1 A G 6: 30,089,975 (GRCm39) H18R possibly damaging Het
Nup160 A G 2: 90,537,382 (GRCm39) D752G probably benign Het
Obscn A T 11: 58,885,526 (GRCm39) L2489* probably null Het
Or4p22 A G 2: 88,317,204 (GRCm39) I43V possibly damaging Het
Or51q1c A G 7: 103,652,659 (GRCm39) E59G probably benign Het
Paip1 T C 13: 119,577,301 (GRCm39) S215P possibly damaging Het
Pate2 T A 9: 35,581,797 (GRCm39) Y26* probably null Het
Pcdhb10 A G 18: 37,545,811 (GRCm39) I296V probably benign Het
Pdzph1 T G 17: 59,280,741 (GRCm39) T514P probably benign Het
Pnlip G A 19: 58,662,224 (GRCm39) W123* probably null Het
Prmt2 C A 10: 76,072,574 (GRCm39) C9F possibly damaging Het
Rbl1 T A 2: 157,009,245 (GRCm39) K763N probably benign Het
Rfk C T 19: 17,372,562 (GRCm39) A28V probably damaging Het
Scart1 C T 7: 139,807,940 (GRCm39) P704S possibly damaging Het
Sdk1 G A 5: 141,948,424 (GRCm39) V590I probably benign Het
Sele A G 1: 163,877,143 (GRCm39) K140E probably benign Het
Sla G A 15: 66,655,572 (GRCm39) T189I probably damaging Het
Slc46a2 A G 4: 59,913,906 (GRCm39) V339A probably damaging Het
Slc5a9 A G 4: 111,742,797 (GRCm39) F432L probably benign Het
Slc6a19 A G 13: 73,839,859 (GRCm39) F141S possibly damaging Het
Tas2r123 T C 6: 132,824,271 (GRCm39) L56S probably damaging Het
Tektip1 A T 10: 81,200,711 (GRCm39) probably null Het
Tmem245 T C 4: 56,916,770 (GRCm39) I53V probably benign Het
Tor2a A T 2: 32,651,619 (GRCm39) Q278L probably benign Het
Trav6-3 A G 14: 53,667,572 (GRCm39) M15V probably benign Het
Ttc28 G A 5: 111,383,335 (GRCm39) probably benign Het
Ubap2 G A 4: 41,206,268 (GRCm39) Q534* probably null Het
Yju2 C T 17: 56,274,582 (GRCm39) S298F probably damaging Het
Zfp954 C A 7: 7,118,624 (GRCm39) E307* probably null Het
Zscan21 A G 5: 138,124,740 (GRCm39) K219E 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
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
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'- AGGACCCAGACAATGTCAGC -3'
(R):5'- AGGAGCTCAGGACTGTTCTAC -3'

Sequencing Primer
(F):5'- CAGACAATGTCAGCTTACAAGG -3'
(R):5'- TCTACAGGGGGCTGGGAG -3'
Posted On 2017-02-10