Incidental Mutation 'R1480:Abca2'
ID 164261
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 039533-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1480 (G1)
Quality Score 205
Status Not validated
Chromosome 2
Chromosomal Location 25318715-25338552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 25323409 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 126 (R126C)
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: R126C

PolyPhen 2 Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: R126C

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.6%
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 C A 5: 124,216,889 (GRCm39) A443S probably benign Het
Adcy3 A G 12: 4,262,171 (GRCm39) M1074V probably damaging Het
Adnp A G 2: 168,025,454 (GRCm39) Y614H probably damaging Het
Agbl4 G A 4: 111,423,914 (GRCm39) M313I possibly damaging Het
AI987944 T C 7: 41,024,343 (GRCm39) D212G probably benign Het
Anxa2 TCCC TCC 9: 69,397,036 (GRCm39) probably null Het
Aplp1 A G 7: 30,135,448 (GRCm39) S537P probably benign Het
Arap2 T A 5: 62,826,472 (GRCm39) R1031* probably null Het
Arid1a A G 4: 133,407,700 (GRCm39) M2269T unknown Het
Ash1l C A 3: 88,892,359 (GRCm39) P1413T probably damaging Het
Auh G A 13: 52,989,532 (GRCm39) P308L probably benign Het
B3gnt5 A T 16: 19,588,617 (GRCm39) I279L probably damaging Het
Camkk2 T C 5: 122,872,341 (GRCm39) probably null Het
Ccdc158 T C 5: 92,796,903 (GRCm39) K478E probably damaging Het
Ces1f T C 8: 94,000,782 (GRCm39) I121V probably benign Het
Chad A T 11: 94,455,963 (GRCm39) probably benign Het
Col6a1 T C 10: 76,545,752 (GRCm39) I907V unknown Het
Cpe T A 8: 65,047,969 (GRCm39) T432S probably benign Het
Csmd3 T C 15: 47,595,325 (GRCm39) T1941A possibly damaging Het
Dennd3 G A 15: 73,404,695 (GRCm39) V257I probably benign Het
Dnajc21 T C 15: 10,460,037 (GRCm39) probably null Het
Dqx1 A G 6: 83,036,433 (GRCm39) R146G possibly damaging Het
Etf1 T C 18: 35,042,276 (GRCm39) E261G probably damaging Het
Fermt2 C T 14: 45,699,244 (GRCm39) V617I possibly damaging Het
Gabarap T C 11: 69,882,551 (GRCm39) Y5H probably damaging Het
Gdap1 A G 1: 17,215,781 (GRCm39) Y29C probably damaging Het
Gimap5 A G 6: 48,729,964 (GRCm39) E178G probably damaging Het
Gpatch1 C T 7: 35,002,763 (GRCm39) G249E probably damaging Het
Gse1 T G 8: 121,299,133 (GRCm39) probably benign Het
Kifc3 T C 8: 95,836,515 (GRCm39) D82G probably damaging Het
Kit G A 5: 75,797,977 (GRCm39) D422N probably benign Het
Klhl28 A T 12: 65,003,995 (GRCm39) F173I probably damaging Het
Klk1b22 A G 7: 43,766,278 (GRCm39) D253G possibly damaging Het
Lias T A 5: 65,549,634 (GRCm39) H39Q probably benign Het
Lrp1b T A 2: 40,793,401 (GRCm39) D2504V probably damaging Het
Mgat5 A T 1: 127,387,716 (GRCm39) R557S probably damaging Het
Mrpl54 T C 10: 81,101,489 (GRCm39) T91A probably benign Het
Myh3 T A 11: 66,984,371 (GRCm39) D1069E possibly damaging Het
Nek1 T A 8: 61,577,360 (GRCm39) probably null Het
Nfyc A C 4: 120,625,921 (GRCm39) probably null Het
Nol7 A T 13: 43,552,104 (GRCm39) E75V probably damaging Het
Nomo1 T A 7: 45,710,337 (GRCm39) V606E probably damaging Het
Npat TGGTAAAA T 9: 53,474,366 (GRCm39) probably null Het
Nt5c1b A G 12: 10,424,886 (GRCm39) E142G probably damaging Het
Ogdh A T 11: 6,297,827 (GRCm39) probably null Het
Or1o4 A G 17: 37,590,636 (GRCm39) V225A probably benign Het
Parg A T 14: 31,931,585 (GRCm39) K402* probably null Het
Patj G A 4: 98,357,819 (GRCm39) G695E probably damaging Het
Pde3a G A 6: 141,433,300 (GRCm39) S777N probably benign Het
Phactr2 G A 10: 13,129,536 (GRCm39) P174L possibly damaging Het
Phtf1 C T 3: 103,894,750 (GRCm39) R113* probably null Het
Pik3r4 G T 9: 105,564,443 (GRCm39) V1346L probably benign Het
Prkcb T C 7: 122,193,865 (GRCm39) W525R probably damaging Het
Prl8a1 C T 13: 27,758,055 (GRCm39) R218H possibly damaging Het
Pum3 T C 19: 27,376,310 (GRCm39) E536G probably benign Het
Rb1 T C 14: 73,500,042 (GRCm39) N535S probably benign Het
Rbm7 G T 9: 48,401,016 (GRCm39) D237E probably benign Het
Ripor1 T C 8: 106,342,180 (GRCm39) V122A probably damaging Het
Sdhc C T 1: 170,973,370 (GRCm39) R11H probably benign Het
Sema3c A G 5: 17,887,029 (GRCm39) N360S possibly damaging Het
Serpinb5 T A 1: 106,809,437 (GRCm39) M281K probably benign Het
Serpinc1 A G 1: 160,822,889 (GRCm39) E210G probably benign Het
Shoc2 T C 19: 53,976,202 (GRCm39) S31P probably benign Het
Sult2a3 T A 7: 13,856,836 (GRCm39) N28I possibly damaging Het
Svil C T 18: 5,057,345 (GRCm39) P598S probably damaging Het
Tacc3 G A 5: 33,821,941 (GRCm39) V234I probably benign Het
Tacr1 A T 6: 82,469,511 (GRCm39) M132L possibly damaging Het
Tas2r104 C A 6: 131,662,257 (GRCm39) V151F probably benign Het
Tbc1d10b C T 7: 126,802,950 (GRCm39) S326N probably benign Het
Trim12c C T 7: 103,997,451 (GRCm39) C35Y probably damaging Het
Trrap T C 5: 144,755,123 (GRCm39) I2067T probably benign Het
Upk1a T C 7: 30,306,311 (GRCm39) I152V probably benign Het
Vmn2r39 T G 7: 9,017,955 (GRCm39) T794P probably damaging Het
Wnk2 G A 13: 49,210,708 (GRCm39) P1704S probably damaging Het
Zfp609 T C 9: 65,610,593 (GRCm39) E790G possibly damaging Het
Zmym1 G T 4: 126,942,405 (GRCm39) T563K probably damaging Het
Zranb1 T A 7: 132,551,745 (GRCm39) F132Y probably benign Het
Zranb3 C T 1: 128,019,599 (GRCm39) A48T 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
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
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'- GCTTCCTGCAATATGCCAACTCCAC -3'
(R):5'- TAACAGCACTGTACTGGACCTGCC -3'

Sequencing Primer
(F):5'- GTGAGTACCCCTACCTCACG -3'
(R):5'- TGTACTGGACCTGCCTCAAG -3'
Posted On 2014-03-28