Incidental Mutation 'R7195:Abca2'
ID 559829
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 045336-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7195 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25318715-25338552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25332088 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 1400 (D1400G)
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: D1400G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: D1400G

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: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930438A08Rik T C 11: 58,179,242 (GRCm39) probably null Het
Actl11 A T 9: 107,806,069 (GRCm39) K131* probably null Het
Adam39 A T 8: 41,277,812 (GRCm39) R68* probably null Het
Akap7 A T 10: 25,147,405 (GRCm39) N108K probably damaging Het
Arhgef10l C A 4: 140,338,721 (GRCm39) A14S probably benign Het
Ccdc141 T G 2: 76,879,927 (GRCm39) N632T probably benign Het
Ccm2 T C 11: 6,546,302 (GRCm39) S435P probably damaging Het
Cd36 A G 5: 18,019,187 (GRCm39) L178P probably damaging Het
Cd7 T C 11: 120,929,075 (GRCm39) I59V probably benign Het
Cds2 T A 2: 132,135,204 (GRCm39) S32T probably benign Het
Cep19 A G 16: 31,925,904 (GRCm39) D104G probably damaging Het
Col1a2 C T 6: 4,510,753 (GRCm39) P68S unknown Het
Col20a1 A G 2: 180,649,024 (GRCm39) H1011R probably damaging Het
Cspg4b A T 13: 113,504,463 (GRCm39) D1864V Het
D7Ertd443e A G 7: 133,896,851 (GRCm39) V513A probably damaging Het
Egfr C T 11: 16,818,162 (GRCm39) P228L probably damaging Het
Fam243 C T 16: 92,118,037 (GRCm39) V84M probably damaging Het
Fam78b A G 1: 166,906,131 (GRCm39) R97G probably damaging Het
Flt1 C T 5: 147,540,386 (GRCm39) V768M probably damaging Het
Gdap1l1 A T 2: 163,288,050 (GRCm39) N96Y probably damaging Het
Gm7168 T A 17: 14,169,622 (GRCm39) Y330N probably benign Het
Hnrnpul1 T C 7: 25,424,203 (GRCm39) N683S unknown Het
Ice2 C T 9: 69,335,782 (GRCm39) P922S possibly damaging Het
Iglv2 A G 16: 19,079,260 (GRCm39) V81A not run Het
Irs1 A G 1: 82,265,177 (GRCm39) I1013T probably benign Het
Itih4 T C 14: 30,621,432 (GRCm39) S832P probably damaging Het
Klhl1 A T 14: 96,517,513 (GRCm39) Y388N probably benign Het
Lrrc37a G A 11: 103,348,601 (GRCm39) S2698L unknown Het
Map4k4 T C 1: 40,058,829 (GRCm39) Y1008H possibly damaging Het
Mdn1 G T 4: 32,701,823 (GRCm39) G1519W probably damaging Het
Mga T A 2: 119,747,809 (GRCm39) D653E probably damaging Het
Npas1 T C 7: 16,208,733 (GRCm39) E48G probably damaging Het
Nup188 G A 2: 30,231,842 (GRCm39) probably null Het
Or1p1b G T 11: 74,130,394 (GRCm39) M1I probably null Het
Or3a4 T A 11: 73,945,223 (GRCm39) M121L probably damaging Het
Or4c110 G A 2: 88,832,075 (GRCm39) L186F Het
Or51a39 A G 7: 102,362,873 (GRCm39) V249A possibly damaging Het
Or55b4 A T 7: 102,133,574 (GRCm39) V251D probably damaging Het
Or7h8 A G 9: 20,123,840 (GRCm39) N65S probably damaging Het
Oxct1 T C 15: 4,158,383 (GRCm39) V439A probably damaging Het
Pcdhb22 G T 18: 37,652,341 (GRCm39) G13W probably damaging Het
Pex11g A G 8: 3,509,237 (GRCm39) V230A probably benign Het
Pop1 C T 15: 34,510,525 (GRCm39) S439L probably damaging Het
Ptpn9 T A 9: 56,929,533 (GRCm39) H83Q probably benign Het
Qrfp C T 2: 31,698,704 (GRCm39) R76H probably benign Het
Slc30a3 A G 5: 31,246,139 (GRCm39) V197A probably benign Het
Slc8a3 T C 12: 81,361,047 (GRCm39) N591D possibly damaging Het
Sp4 G T 12: 118,263,807 (GRCm39) Q80K possibly damaging Het
Spock1 C T 13: 58,055,316 (GRCm39) G29D possibly damaging Het
Sprr1a G T 3: 92,391,674 (GRCm39) P109Q probably damaging Het
Suz12 T A 11: 79,904,309 (GRCm39) F239L probably damaging Het
Tbx3 A G 5: 119,813,648 (GRCm39) Y248C probably damaging Het
Trabd2b T C 4: 114,266,637 (GRCm39) L217P probably damaging Het
Ubxn11 A C 4: 133,853,726 (GRCm39) I398L possibly damaging Het
Vmn1r173 T A 7: 23,401,884 (GRCm39) S40T probably damaging Het
Vmn2r2 T C 3: 64,023,900 (GRCm39) S894G probably benign Het
Vmn2r65 A G 7: 84,592,347 (GRCm39) probably null Het
Vps13c G A 9: 67,853,107 (GRCm39) G2400D possibly damaging Het
Vps8 T C 16: 21,275,032 (GRCm39) Y197H probably damaging Het
Wdr91 T C 6: 34,866,209 (GRCm39) N486D possibly damaging Het
Wwp1 A G 4: 19,627,908 (GRCm39) I695T possibly damaging Het
Zc3hc1 T C 6: 30,382,547 (GRCm39) D133G probably benign Het
Zcchc14 T C 8: 122,335,200 (GRCm39) I307V unknown Het
Zfp933 G A 4: 147,910,636 (GRCm39) T320I 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
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
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'- TTGCAGATGTGAAGGAGTCC -3'
(R):5'- ATGGAACTGCCGCATCTTCAG -3'

Sequencing Primer
(F):5'- CGGAAGGATGTGCTGCCTG -3'
(R):5'- GCATCTTCAGCCACCAGC -3'
Posted On 2019-06-26