Incidental Mutation 'R2136:Abca5'
ID 235834
Institutional Source Beutler Lab
Gene Symbol Abca5
Ensembl Gene ENSMUSG00000018800
Gene Name ATP-binding cassette, sub-family A member 5
Synonyms ABC13, B930033A02Rik
MMRRC Submission 040139-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.119) question?
Stock # R2136 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 110160195-110228542 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110210658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 174 (T174A)
Ref Sequence ENSEMBL: ENSMUSP00000118328 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043961] [ENSMUST00000124714] [ENSMUST00000134721]
AlphaFold Q8K448
Predicted Effect probably benign
Transcript: ENSMUST00000043961
AA Change: T174A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000047927
Gene: ENSMUSG00000018800
AA Change: T174A

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 29 416 4.3e-33 PFAM
AAA 506 691 2.88e-8 SMART
low complexity region 733 744 N/A INTRINSIC
transmembrane domain 864 886 N/A INTRINSIC
transmembrane domain 971 993 N/A INTRINSIC
low complexity region 1262 1267 N/A INTRINSIC
AAA 1325 1512 3.52e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124714
AA Change: T174A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120708
Gene: ENSMUSG00000018800
AA Change: T174A

DomainStartEndE-ValueType
Pfam:ABC2_membrane_3 30 416 9.5e-32 PFAM
AAA 506 691 2.88e-8 SMART
low complexity region 733 744 N/A INTRINSIC
transmembrane domain 864 886 N/A INTRINSIC
transmembrane domain 971 993 N/A INTRINSIC
transmembrane domain 1019 1041 N/A INTRINSIC
transmembrane domain 1074 1096 N/A INTRINSIC
transmembrane domain 1103 1125 N/A INTRINSIC
transmembrane domain 1136 1158 N/A INTRINSIC
transmembrane domain 1165 1187 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127318
Predicted Effect probably benign
Transcript: ENSMUST00000134721
AA Change: T174A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000118328
Gene: ENSMUSG00000018800
AA Change: T174A

DomainStartEndE-ValueType
transmembrane domain 36 53 N/A INTRINSIC
Meta Mutation Damage Score 0.0725 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 95.9%
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, and White). This encoded 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 gene is clustered among 4 other ABC1 family members on 17q24, but neither the substrate nor the function of this gene is known. Alternative splicing of this gene results in several transcript variants; however, not all variants have been fully described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit exophthalmos, tremors and collapse of the thyroid gland, and develop a dilated cardiomyopathy with large thrombi due to depression of the cardiac function. Severe edema, liver injury and premature death appear to be sensitive to genetic background. [provided by MGI curators]
Allele List at MGI

All alleles(3) : Targeted(3)

Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930003A15Rik T G 16: 19,702,530 (GRCm39) noncoding transcript Het
Abcg3 G A 5: 105,114,680 (GRCm39) S279L probably benign Het
Acap3 T C 4: 155,981,369 (GRCm39) L85P probably damaging Het
Adgrl3 A G 5: 81,660,101 (GRCm39) K290R probably damaging Het
Ankhd1 A G 18: 36,780,674 (GRCm39) T1909A probably benign Het
Asap1 T C 15: 63,982,808 (GRCm39) D832G probably damaging Het
Atp6v0a2 T A 5: 124,795,552 (GRCm39) L702Q possibly damaging Het
Bsn A G 9: 107,990,430 (GRCm39) V1774A probably damaging Het
Cd209e T C 8: 3,903,248 (GRCm39) E48G probably benign Het
Cdadc1 T C 14: 59,805,493 (GRCm39) probably null Het
Cfap65 C CA 1: 74,956,432 (GRCm39) probably null Het
Cln3 A C 7: 126,181,971 (GRCm39) S30R probably benign Het
Cluap1 C T 16: 3,751,636 (GRCm39) R332W probably damaging Het
Crb1 A T 1: 139,265,163 (GRCm39) V85E probably benign Het
Crocc G A 4: 140,760,265 (GRCm39) R789W probably damaging Het
Cwh43 A G 5: 73,572,397 (GRCm39) I212V probably benign Het
Cyp2t4 C A 7: 26,857,585 (GRCm39) F391L probably benign Het
Dhx35 G T 2: 158,673,781 (GRCm39) R404L probably damaging Het
Disp1 A G 1: 182,869,942 (GRCm39) L826S probably damaging Het
Dync2h1 T A 9: 7,122,772 (GRCm39) E2061D probably damaging Het
Ep300 T A 15: 81,524,648 (GRCm39) Y1393N unknown Het
Fap C T 2: 62,354,551 (GRCm39) G446D possibly damaging Het
Fat3 A G 9: 16,288,347 (GRCm39) I392T probably benign Het
Fpr-rs4 CAGGAA CA 17: 18,242,596 (GRCm39) probably null Het
Glipr1l1 T C 10: 111,896,381 (GRCm39) V56A probably damaging Het
Grsf1 A G 5: 88,820,517 (GRCm39) V7A probably benign Het
Hmcn1 G A 1: 150,509,410 (GRCm39) A3646V probably damaging Het
Ipo9 A T 1: 135,322,023 (GRCm39) I569N probably damaging Het
Irs1 G T 1: 82,267,763 (GRCm39) P151Q probably damaging Het
Kalrn T C 16: 34,128,094 (GRCm39) D491G possibly damaging Het
Kctd7 T C 5: 130,181,207 (GRCm39) L210P probably damaging Het
Lifr C A 15: 7,211,338 (GRCm39) D625E possibly damaging Het
Lrguk T C 6: 34,020,454 (GRCm39) V201A probably benign Het
Mark1 A G 1: 184,651,770 (GRCm39) V135A probably damaging Het
Mical2 T A 7: 111,870,722 (GRCm39) D70E possibly damaging Het
Mrc1 T C 2: 14,275,000 (GRCm39) Y434H probably damaging Het
Myh10 C A 11: 68,695,540 (GRCm39) Q1556K probably damaging Het
Nav1 G A 1: 135,382,174 (GRCm39) T1400I probably null Het
Or1j11 A G 2: 36,311,950 (GRCm39) D180G probably damaging Het
Or2a7 A G 6: 43,151,435 (GRCm39) K172E probably benign Het
Or4b13 A C 2: 90,082,597 (GRCm39) V245G probably damaging Het
Or4f4b T C 2: 111,313,961 (GRCm39) V62A probably damaging Het
Or4p7 T A 2: 88,221,663 (GRCm39) I24N probably benign Het
Or5d43 T C 2: 88,104,584 (GRCm39) K270E probably damaging Het
Or5e1 G A 7: 108,354,430 (GRCm39) M122I possibly damaging Het
Osmr T A 15: 6,881,943 (GRCm39) Q67L probably damaging Het
Pan2 T G 10: 128,149,506 (GRCm39) V522G possibly damaging Het
Pard3 T G 8: 128,103,366 (GRCm39) probably null Het
Pcdhgc5 G T 18: 37,953,166 (GRCm39) A147S possibly damaging Het
Pcsk9 T C 4: 106,303,967 (GRCm39) I506V probably benign Het
Polr3d GCCCCC GCCCC 14: 70,680,487 (GRCm39) probably null Het
Prdm4 G A 10: 85,729,215 (GRCm39) R731* probably null Het
Prdx6b T A 2: 80,123,507 (GRCm39) D105E probably damaging Het
Prss3b A G 6: 41,012,396 (GRCm39) F6S probably benign Het
Rab42 A G 4: 132,029,790 (GRCm39) L144P probably damaging Het
Ralbp1 T A 17: 66,171,661 (GRCm39) K104M probably damaging Het
Resf1 T A 6: 149,230,320 (GRCm39) I1122K probably benign Het
Rrp12 A G 19: 41,881,038 (GRCm39) V131A probably damaging Het
Sbno1 C T 5: 124,525,597 (GRCm39) probably null Het
Sbno2 A T 10: 79,898,527 (GRCm39) I645N probably damaging Het
Scfd2 T C 5: 74,367,028 (GRCm39) K624R probably benign Het
Sgk2 C A 2: 162,841,099 (GRCm39) probably null Het
Sirt4 A G 5: 115,617,760 (GRCm39) S299P probably benign Het
Skic3 T C 13: 76,321,473 (GRCm39) S1322P possibly damaging Het
Slit2 C T 5: 48,461,567 (GRCm39) A1521V probably benign Het
Socs7 T G 11: 97,263,933 (GRCm39) V275G possibly damaging Het
Spink11 G A 18: 44,323,554 (GRCm39) P102S probably benign Het
Tacc3 A G 5: 33,828,748 (GRCm39) N534D probably damaging Het
Tas2r115 T C 6: 132,714,309 (GRCm39) Y214C probably damaging Het
Tcaf1 A T 6: 42,650,454 (GRCm39) M875K probably benign Het
Ttc22 T A 4: 106,479,869 (GRCm39) L41Q possibly damaging Het
Vasn T A 16: 4,467,659 (GRCm39) C535* probably null Het
Vcan T A 13: 89,837,856 (GRCm39) I2563F probably damaging Het
Vmn2r63 T G 7: 42,576,297 (GRCm39) Q505H probably damaging Het
Vmn2r65 T G 7: 84,592,781 (GRCm39) Q475H probably damaging Het
Zbtb43 T C 2: 33,344,532 (GRCm39) Y231C probably damaging Het
Zfp292 A G 4: 34,810,266 (GRCm39) V931A probably benign Het
Other mutations in Abca5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00487:Abca5 APN 11 110,200,276 (GRCm39) critical splice acceptor site probably null
IGL00675:Abca5 APN 11 110,195,811 (GRCm39) missense probably damaging 1.00
IGL01512:Abca5 APN 11 110,208,649 (GRCm39) missense probably benign 0.40
IGL01559:Abca5 APN 11 110,163,352 (GRCm39) missense probably benign
IGL01584:Abca5 APN 11 110,195,749 (GRCm39) missense probably damaging 0.98
IGL01604:Abca5 APN 11 110,168,462 (GRCm39) missense possibly damaging 0.47
IGL01828:Abca5 APN 11 110,178,521 (GRCm39) missense probably benign
IGL01880:Abca5 APN 11 110,184,089 (GRCm39) missense probably benign 0.01
IGL02054:Abca5 APN 11 110,182,949 (GRCm39) missense probably damaging 0.99
IGL02074:Abca5 APN 11 110,184,176 (GRCm39) missense probably benign 0.00
IGL02233:Abca5 APN 11 110,165,170 (GRCm39) nonsense probably null
IGL02245:Abca5 APN 11 110,188,995 (GRCm39) nonsense probably null
IGL02317:Abca5 APN 11 110,218,587 (GRCm39) missense probably benign 0.09
IGL02352:Abca5 APN 11 110,166,156 (GRCm39) missense probably benign 0.01
IGL02359:Abca5 APN 11 110,166,156 (GRCm39) missense probably benign 0.01
IGL02390:Abca5 APN 11 110,187,377 (GRCm39) missense probably benign
IGL02600:Abca5 APN 11 110,200,264 (GRCm39) missense probably benign 0.02
IGL02639:Abca5 APN 11 110,178,899 (GRCm39) missense possibly damaging 0.79
IGL03000:Abca5 APN 11 110,208,640 (GRCm39) missense probably benign 0.04
IGL03074:Abca5 APN 11 110,201,101 (GRCm39) missense probably benign 0.01
IGL03078:Abca5 APN 11 110,167,371 (GRCm39) nonsense probably null
IGL03342:Abca5 APN 11 110,178,517 (GRCm39) missense possibly damaging 0.94
IGL03368:Abca5 APN 11 110,204,348 (GRCm39) splice site probably benign
atles UTSW 11 110,190,755 (GRCm39) missense probably damaging 0.99
Demento UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
jones UTSW 11 110,178,884 (GRCm39) splice site probably null
smith UTSW 11 110,192,371 (GRCm39) missense probably benign 0.22
R0106:Abca5 UTSW 11 110,210,651 (GRCm39) missense probably damaging 1.00
R0116:Abca5 UTSW 11 110,167,331 (GRCm39) missense probably damaging 1.00
R0305:Abca5 UTSW 11 110,164,137 (GRCm39) splice site probably benign
R0550:Abca5 UTSW 11 110,184,666 (GRCm39) missense probably damaging 1.00
R0578:Abca5 UTSW 11 110,167,315 (GRCm39) nonsense probably null
R0587:Abca5 UTSW 11 110,202,203 (GRCm39) missense probably benign 0.00
R0610:Abca5 UTSW 11 110,192,353 (GRCm39) missense probably benign 0.00
R0617:Abca5 UTSW 11 110,170,515 (GRCm39) missense probably damaging 0.98
R0667:Abca5 UTSW 11 110,218,637 (GRCm39) missense probably benign 0.00
R0844:Abca5 UTSW 11 110,210,658 (GRCm39) missense probably benign 0.00
R1273:Abca5 UTSW 11 110,217,491 (GRCm39) missense probably benign 0.01
R1463:Abca5 UTSW 11 110,205,384 (GRCm39) missense probably damaging 1.00
R1511:Abca5 UTSW 11 110,190,812 (GRCm39) missense possibly damaging 0.73
R1511:Abca5 UTSW 11 110,190,804 (GRCm39) missense probably damaging 1.00
R1687:Abca5 UTSW 11 110,184,714 (GRCm39) missense probably benign 0.32
R1759:Abca5 UTSW 11 110,184,674 (GRCm39) missense probably benign
R1870:Abca5 UTSW 11 110,220,043 (GRCm39) missense probably benign 0.33
R2006:Abca5 UTSW 11 110,204,275 (GRCm39) missense probably benign
R2039:Abca5 UTSW 11 110,190,755 (GRCm39) missense probably damaging 0.99
R2076:Abca5 UTSW 11 110,178,478 (GRCm39) missense probably benign 0.10
R2154:Abca5 UTSW 11 110,183,000 (GRCm39) missense probably benign 0.00
R2273:Abca5 UTSW 11 110,166,107 (GRCm39) missense possibly damaging 0.93
R2274:Abca5 UTSW 11 110,166,107 (GRCm39) missense possibly damaging 0.93
R2275:Abca5 UTSW 11 110,166,107 (GRCm39) missense possibly damaging 0.93
R2328:Abca5 UTSW 11 110,167,347 (GRCm39) missense probably damaging 0.99
R3702:Abca5 UTSW 11 110,178,884 (GRCm39) splice site probably null
R3768:Abca5 UTSW 11 110,204,217 (GRCm39) missense probably benign 0.01
R3872:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R3873:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R3874:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R3875:Abca5 UTSW 11 110,201,059 (GRCm39) missense probably damaging 1.00
R4347:Abca5 UTSW 11 110,190,794 (GRCm39) missense probably damaging 1.00
R4429:Abca5 UTSW 11 110,202,236 (GRCm39) missense probably benign 0.00
R4790:Abca5 UTSW 11 110,202,236 (GRCm39) missense possibly damaging 0.63
R4812:Abca5 UTSW 11 110,192,647 (GRCm39) missense probably damaging 1.00
R4833:Abca5 UTSW 11 110,170,142 (GRCm39) missense probably benign 0.00
R4883:Abca5 UTSW 11 110,217,457 (GRCm39) missense probably damaging 1.00
R5000:Abca5 UTSW 11 110,201,050 (GRCm39) missense probably damaging 1.00
R5004:Abca5 UTSW 11 110,170,202 (GRCm39) missense probably damaging 0.99
R5066:Abca5 UTSW 11 110,200,176 (GRCm39) intron probably benign
R5230:Abca5 UTSW 11 110,210,686 (GRCm39) missense probably benign
R5321:Abca5 UTSW 11 110,218,651 (GRCm39) missense probably benign
R5350:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5414:Abca5 UTSW 11 110,205,448 (GRCm39) missense probably damaging 1.00
R5437:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5451:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5453:Abca5 UTSW 11 110,210,622 (GRCm39) nonsense probably null
R5488:Abca5 UTSW 11 110,183,009 (GRCm39) missense probably benign 0.00
R5636:Abca5 UTSW 11 110,192,362 (GRCm39) missense probably benign 0.00
R5805:Abca5 UTSW 11 110,170,216 (GRCm39) missense probably benign 0.06
R5900:Abca5 UTSW 11 110,169,982 (GRCm39) missense possibly damaging 0.92
R6152:Abca5 UTSW 11 110,204,187 (GRCm39) missense probably damaging 1.00
R6167:Abca5 UTSW 11 110,182,931 (GRCm39) missense probably benign 0.10
R6343:Abca5 UTSW 11 110,205,378 (GRCm39) missense probably damaging 1.00
R6425:Abca5 UTSW 11 110,220,058 (GRCm39) missense possibly damaging 0.75
R6493:Abca5 UTSW 11 110,184,704 (GRCm39) missense probably benign 0.00
R6498:Abca5 UTSW 11 110,182,928 (GRCm39) missense possibly damaging 0.70
R6884:Abca5 UTSW 11 110,220,043 (GRCm39) missense probably damaging 0.96
R6912:Abca5 UTSW 11 110,197,106 (GRCm39) missense probably benign 0.35
R7084:Abca5 UTSW 11 110,192,371 (GRCm39) missense probably benign 0.22
R7239:Abca5 UTSW 11 110,217,530 (GRCm39) missense possibly damaging 0.94
R7490:Abca5 UTSW 11 110,168,437 (GRCm39) missense possibly damaging 0.95
R7527:Abca5 UTSW 11 110,218,556 (GRCm39) critical splice donor site probably null
R7702:Abca5 UTSW 11 110,167,278 (GRCm39) critical splice donor site probably null
R7763:Abca5 UTSW 11 110,163,323 (GRCm39) missense possibly damaging 0.85
R8237:Abca5 UTSW 11 110,200,981 (GRCm39) missense probably benign 0.01
R8910:Abca5 UTSW 11 110,189,030 (GRCm39) missense probably damaging 0.96
R9028:Abca5 UTSW 11 110,188,904 (GRCm39) missense probably damaging 1.00
R9124:Abca5 UTSW 11 110,189,005 (GRCm39) missense possibly damaging 0.91
R9151:Abca5 UTSW 11 110,188,908 (GRCm39) missense probably benign
R9187:Abca5 UTSW 11 110,200,961 (GRCm39) critical splice donor site probably null
R9249:Abca5 UTSW 11 110,220,165 (GRCm39) intron probably benign
R9322:Abca5 UTSW 11 110,192,331 (GRCm39) missense probably damaging 0.96
R9391:Abca5 UTSW 11 110,178,542 (GRCm39) missense probably benign
R9435:Abca5 UTSW 11 110,182,911 (GRCm39) critical splice donor site probably null
R9557:Abca5 UTSW 11 110,197,109 (GRCm39) missense probably damaging 1.00
R9660:Abca5 UTSW 11 110,168,248 (GRCm39) missense possibly damaging 0.80
R9788:Abca5 UTSW 11 110,192,253 (GRCm39) missense probably damaging 1.00
RF014:Abca5 UTSW 11 110,170,580 (GRCm39) critical splice acceptor site probably null
Z1177:Abca5 UTSW 11 110,170,154 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GCTCAAATCCTTCATAAGACAAGAG -3'
(R):5'- CCTTCCGTCCTGTAGAGAATG -3'

Sequencing Primer
(F):5'- GAACCAAATTCAACGTTAAAGA -3'
(R):5'- CGTCCTGTAGAGAATGCCTGG -3'
Posted On 2014-10-01