Incidental Mutation 'R8970:Abca2'
ID 682988
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 068804-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8970 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 25318715-25338552 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 25335728 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 2113 (V2113A)
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: V2113A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000099983
Gene: ENSMUSG00000026944
AA Change: V2113A

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: 99.2%
Validation Efficiency 99% (69/70)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,545,726 (GRCm39) V467A probably damaging Het
Adam10 A G 9: 70,655,458 (GRCm39) N309D probably benign Het
Adcy1 T A 11: 7,099,983 (GRCm39) W698R probably benign Het
Adnp T C 2: 168,031,290 (GRCm39) N7S possibly damaging Het
Ankar A G 1: 72,691,496 (GRCm39) probably null Het
Ankrd34b T A 13: 92,575,590 (GRCm39) I274K probably benign Het
Apela A T 8: 65,489,601 (GRCm39) L6H unknown Het
Ash1l T C 3: 88,976,307 (GRCm39) I2629T probably benign Het
Auts2 C T 5: 132,287,791 (GRCm39) R64K possibly damaging Het
Bms1 A G 6: 118,369,292 (GRCm39) V1003A possibly damaging Het
C2cd3 T C 7: 100,068,971 (GRCm39) V555A Het
C2cd6 T A 1: 59,108,895 (GRCm39) H252L possibly damaging Het
Capn3 G T 2: 120,294,566 (GRCm39) K71N possibly damaging Het
Chct1 A G 11: 85,069,246 (GRCm39) E198G probably benign Het
Clec2l C A 6: 38,657,122 (GRCm39) T195K possibly damaging Het
Col27a1 T C 4: 63,134,105 (GRCm39) S15P unknown Het
Coro2b T C 9: 62,333,809 (GRCm39) probably benign Het
Crocc2 A T 1: 93,116,687 (GRCm39) T233S probably benign Het
Ddb1 A G 19: 10,585,808 (GRCm39) Q174R probably benign Het
Denr C T 5: 124,055,279 (GRCm39) P48L probably damaging Het
Dusp26 A G 8: 31,584,232 (GRCm39) Y113C probably damaging Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Evi5l A G 8: 4,236,154 (GRCm39) probably benign Het
Fgf2 G T 3: 37,458,767 (GRCm39) V96F probably benign Het
Gpr139 A G 7: 118,744,034 (GRCm39) Y184H probably damaging Het
Gtf3c1 A C 7: 125,272,227 (GRCm39) probably benign Het
Gucy1b2 A G 14: 62,656,664 (GRCm39) V231A possibly damaging Het
Gucy2g T C 19: 55,191,478 (GRCm39) E991G possibly damaging Het
Gvin1 A T 7: 105,762,647 (GRCm39) H607Q probably damaging Het
Hal T C 10: 93,325,036 (GRCm39) V15A probably damaging Het
Hes3 A G 4: 152,376,036 (GRCm39) probably null Het
Il11 A G 7: 4,779,181 (GRCm39) L72P probably damaging Het
Iqsec3 T A 6: 121,366,528 (GRCm39) I785F probably damaging Het
Jup C T 11: 100,270,391 (GRCm39) C372Y probably damaging Het
Lrpprc T A 17: 85,074,483 (GRCm39) T475S probably damaging Het
Lrrc63 T A 14: 75,362,631 (GRCm39) T300S unknown Het
Lsamp A T 16: 41,994,528 (GRCm39) I331F possibly damaging Het
Ltn1 A T 16: 87,212,926 (GRCm39) I545K probably benign Het
Mab21l4 G C 1: 93,087,533 (GRCm39) P107A probably benign Het
Med13l G A 5: 118,883,164 (GRCm39) R1341H probably damaging Het
Msh4 T A 3: 153,575,369 (GRCm39) K669* probably null Het
Myo10 T A 15: 25,803,467 (GRCm39) L1558H possibly damaging Het
Ncbp1 G A 4: 46,170,023 (GRCm39) V699M probably damaging Het
Or12k8 T A 2: 36,975,478 (GRCm39) Y94F probably benign Het
Or56b1b A G 7: 108,164,997 (GRCm39) S2P probably benign Het
Or5b114-ps1 T G 19: 13,353,117 (GRCm39) S264A unknown Het
Or5b99 T A 19: 12,976,353 (GRCm39) M1K probably null Het
Parpbp G A 10: 87,962,186 (GRCm39) R165W probably damaging Het
Pcdhgb7 T A 18: 37,885,631 (GRCm39) M267K probably benign Het
Pitx3 T A 19: 46,125,540 (GRCm39) H68L possibly damaging Het
Ppfia4 A G 1: 134,252,289 (GRCm39) L395P probably damaging Het
Pramel42 T C 5: 94,685,645 (GRCm39) V435A probably benign Het
Ptprh T C 7: 4,583,944 (GRCm39) D216G possibly damaging Het
Ptprs A G 17: 56,730,353 (GRCm39) S1174P possibly damaging Het
Shf A G 2: 122,187,654 (GRCm39) S51P probably benign Het
Sinhcaf A T 6: 148,834,624 (GRCm39) F2I probably damaging Het
Slc19a3 A T 1: 83,000,822 (GRCm39) L65Q probably damaging Het
Srgap2 G A 1: 131,226,104 (GRCm39) L390F Het
Srpk1 T C 17: 28,818,493 (GRCm39) T448A probably benign Het
Stat5a A G 11: 100,771,353 (GRCm39) D612G probably benign Het
Supt4a A T 11: 87,633,645 (GRCm39) E67V probably benign Het
Tango6 T A 8: 107,415,871 (GRCm39) C231S probably damaging Het
Th A G 7: 142,446,796 (GRCm39) L490P probably damaging Het
Tpcn1 C T 5: 120,682,518 (GRCm39) G497S probably damaging Het
Trim10 A T 17: 37,184,168 (GRCm39) I254F probably benign Het
Tyw1 G A 5: 130,298,065 (GRCm39) R202Q probably damaging Het
Vmn2r124 G T 17: 18,294,439 (GRCm39) R842L probably benign Het
Vmn2r56 T C 7: 12,428,632 (GRCm39) R545G probably damaging Het
Vmn2r84 T C 10: 130,222,244 (GRCm39) T659A probably damaging Het
Vps13c T C 9: 67,852,803 (GRCm39) M2361T probably benign Het
Zfp217 T C 2: 169,956,997 (GRCm39) D667G possibly damaging Het
Zfp952 T G 17: 33,221,810 (GRCm39) C96W probably benign Het
Zfp959 A G 17: 56,204,836 (GRCm39) Q291R possibly damaging Het
Zscan4-ps3 T C 7: 11,344,414 (GRCm39) V124A 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
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
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'- GTCAGGTGTACAAGTCTCGGAAG -3'
(R):5'- ATACCCAGGACGGTATGCTC -3'

Sequencing Primer
(F):5'- TGTACAAGTCTCGGAAGATTGGCC -3'
(R):5'- TGAGGTCATGGTCAGCACACTC -3'
Posted On 2021-10-11