Incidental Mutation 'R4835:Abcg5'
ID 373198
Institutional Source Beutler Lab
Gene Symbol Abcg5
Ensembl Gene ENSMUSG00000040505
Gene Name ATP binding cassette subfamily G member 5
Synonyms trac, Sterolin-1, cmp
MMRRC Submission 042450-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R4835 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 84965662-84990439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 84966076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 428 (M428K)
Ref Sequence ENSEMBL: ENSMUSP00000130783 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025101] [ENSMUST00000066175] [ENSMUST00000163375]
AlphaFold Q99PE8
Predicted Effect probably benign
Transcript: ENSMUST00000025101
SMART Domains Protein: ENSMUSP00000025101
Gene: ENSMUSG00000024253

DomainStartEndE-ValueType
Pfam:DLIC 2 179 3.3e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000066175
AA Change: M600K

PolyPhen 2 Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: M600K

DomainStartEndE-ValueType
AAA 79 271 2.28e-11 SMART
Pfam:ABC2_membrane 367 581 1.3e-24 PFAM
transmembrane domain 621 643 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000163375
AA Change: M428K

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505
AA Change: M428K

DomainStartEndE-ValueType
Pfam:ABC_tran 1 134 7.8e-17 PFAM
Pfam:ABC2_membrane 195 409 1.4e-23 PFAM
transmembrane domain 449 471 N/A INTRINSIC
Meta Mutation Damage Score 0.1077 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 98% (96/98)
MGI Phenotype FUNCTION: The 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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily, and functions as a half-transporter to limit intestinal absorption and promote biliary excretion of sterols. Disruption of this gene in mice results in thrombocytopenia, prolonged bleeding times, anemia, leukopenia, infertility, shortened life span and cardiomyopathy. Mice lacking this gene show symptoms of sitosterolemia. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygotes for a null allele show hyperabsorption of dietary plant sterols and sitosterolemia. Spontaneous mutants are small, infertile and hunched and display anemia, leukopenia, macrothrombocytopenia, other hematologic defects, cardiomyopathy, high plasma phytosterol levels and premature death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 91 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A T 7: 29,274,326 (GRCm39) noncoding transcript Het
4933434E20Rik A G 3: 89,970,516 (GRCm39) N17D probably benign Het
A1bg T C 15: 60,792,100 (GRCm39) D176G probably benign Het
Adam1a A T 5: 121,657,752 (GRCm39) C514S probably damaging Het
Angptl3 A G 4: 98,925,649 (GRCm39) Q325R probably benign Het
Ankrd26 C T 6: 118,525,811 (GRCm39) W378* probably null Het
Apob T C 12: 8,065,391 (GRCm39) V4087A possibly damaging Het
Auts2 A G 5: 131,494,931 (GRCm39) I117T probably damaging Het
AW146154 T A 7: 41,129,892 (GRCm39) E408V probably damaging Het
Bicd1 A T 6: 149,385,588 (GRCm39) N107I probably benign Het
Blm T C 7: 80,159,294 (GRCm39) S281G probably benign Het
Btaf1 T A 19: 36,979,858 (GRCm39) D1542E probably benign Het
C2cd2l A G 9: 44,226,442 (GRCm39) probably null Het
Capn8 C A 1: 182,432,116 (GRCm39) N362K probably damaging Het
Ccdc14 T G 16: 34,525,408 (GRCm39) S186A probably damaging Het
Cdca4 A G 12: 112,785,167 (GRCm39) L187P probably damaging Het
Chil6 T A 3: 106,313,290 (GRCm39) K20* probably null Het
Cmss1 A T 16: 57,136,545 (GRCm39) L109* probably null Het
Cmtm6 G T 9: 114,560,410 (GRCm39) W36L probably benign Het
Cnksr3 T G 10: 7,110,757 (GRCm39) I35L possibly damaging Het
Col4a2 G T 8: 11,473,570 (GRCm39) G534* probably null Het
Col5a1 T G 2: 27,915,656 (GRCm39) V180G probably damaging Het
Ctnna3 T C 10: 63,417,723 (GRCm39) F154L probably benign Het
Fabp7 G A 10: 57,661,676 (GRCm39) V50M possibly damaging Het
Fam170a T A 18: 50,415,050 (GRCm39) V232D probably damaging Het
Fam186a T G 15: 99,843,689 (GRCm39) T852P unknown Het
Fam20a T C 11: 109,564,389 (GRCm39) I455V probably benign Het
Fbxl6 C T 15: 76,421,004 (GRCm39) V324M probably damaging Het
Galnt18 T C 7: 111,378,730 (GRCm39) T9A probably damaging Het
Golgb1 T A 16: 36,711,769 (GRCm39) M191K possibly damaging Het
Gpld1 A G 13: 25,166,699 (GRCm39) T650A probably benign Het
Gprc5d A G 6: 135,093,515 (GRCm39) F131L probably benign Het
H2az2 C T 11: 6,389,437 (GRCm39) G7E unknown Het
Haus4 A T 14: 54,783,292 (GRCm39) probably null Het
Helq A G 5: 100,922,029 (GRCm39) I725T possibly damaging Het
Igsf23 T A 7: 19,675,755 (GRCm39) D117V possibly damaging Het
Kiz A T 2: 146,784,008 (GRCm39) S514C probably damaging Het
Klhl6 A T 16: 19,775,783 (GRCm39) N258K probably benign Het
Krt72 G C 15: 101,689,508 (GRCm39) probably null Het
Large1 A T 8: 73,774,975 (GRCm39) I245N probably damaging Het
Lrrc31 T C 3: 30,733,306 (GRCm39) I469M probably damaging Het
Lypd4 T A 7: 24,566,121 (GRCm39) I68F probably benign Het
Mast1 A G 8: 85,650,408 (GRCm39) S442P probably damaging Het
Mmp20 T A 9: 7,645,300 (GRCm39) H283Q probably benign Het
Mrps5 G A 2: 127,445,627 (GRCm39) V385M possibly damaging Het
Ms4a15 T C 19: 10,956,590 (GRCm39) K241E possibly damaging Het
Myt1 A G 2: 181,439,255 (GRCm39) E259G probably damaging Het
Myt1l C A 12: 29,945,304 (GRCm39) T1023K unknown Het
Ncapd3 T C 9: 26,997,342 (GRCm39) L1221P probably damaging Het
Ncoa6 A G 2: 155,249,053 (GRCm39) V1417A possibly damaging Het
Nmnat1 A G 4: 149,557,802 (GRCm39) V80A possibly damaging Het
Nwd2 A G 5: 63,965,189 (GRCm39) E1591G probably benign Het
Or10ac1 A G 6: 42,515,770 (GRCm39) F62S probably damaging Het
Or8j3b A G 2: 86,204,853 (GRCm39) L301S possibly damaging Het
Osbpl1a A T 18: 12,901,593 (GRCm39) probably null Het
Papln T C 12: 83,821,194 (GRCm39) I204T probably damaging Het
Phf1 A G 17: 27,153,652 (GRCm39) T97A probably benign Het
Plxnb1 A G 9: 108,934,442 (GRCm39) D890G probably damaging Het
Ppp1r12b G T 1: 134,883,471 (GRCm39) A17E probably benign Het
Ptgir A G 7: 16,640,794 (GRCm39) M29V possibly damaging Het
Rbp2 G A 9: 98,389,876 (GRCm39) C96Y probably damaging Het
Rgmb A T 17: 16,027,624 (GRCm39) M365K possibly damaging Het
Ric1 A G 19: 29,572,936 (GRCm39) N792S possibly damaging Het
Ruvbl1 T C 6: 88,474,211 (GRCm39) Y405H possibly damaging Het
Scaf4 A G 16: 90,047,195 (GRCm39) M394T unknown Het
Siglech T A 7: 55,418,177 (GRCm39) C48* probably null Het
Skic2 A G 17: 35,061,897 (GRCm39) V695A possibly damaging Het
Slc2a5 A G 4: 150,224,462 (GRCm39) T320A probably benign Het
Slc6a7 T C 18: 61,135,277 (GRCm39) Y417C probably benign Het
Sox21 A G 14: 118,472,336 (GRCm39) C238R possibly damaging Het
Tbata A T 10: 61,019,132 (GRCm39) K109N probably damaging Het
Tecpr2 T G 12: 110,921,164 (GRCm39) S1246A probably benign Het
Tekt3 A G 11: 62,972,085 (GRCm39) D247G probably benign Het
Tenm3 A T 8: 48,766,271 (GRCm39) probably null Het
Thada A T 17: 84,748,532 (GRCm39) probably null Het
Tpcn2 C T 7: 144,826,088 (GRCm39) G204R probably damaging Het
Tpm2 T C 4: 43,519,220 (GRCm39) probably null Het
Trbv24 T C 6: 41,195,026 (GRCm39) probably benign Het
Tyw1 A G 5: 130,305,899 (GRCm39) R341G probably benign Het
Vmn1r183 T G 7: 23,754,564 (GRCm39) N122K probably benign Het
Vmn2r61 T A 7: 41,916,459 (GRCm39) H357Q possibly damaging Het
Vps13b C T 15: 35,869,518 (GRCm39) T2674I probably damaging Het
Vps13b T C 15: 35,910,439 (GRCm39) L3401P probably benign Het
Vps16 T G 2: 130,280,220 (GRCm39) probably benign Het
Vrtn T A 12: 84,696,468 (GRCm39) I406N probably damaging Het
Vwa8 A T 14: 79,172,053 (GRCm39) Y278F probably benign Het
Washc4 A T 10: 83,415,376 (GRCm39) I789F possibly damaging Het
Zbtb20 C A 16: 43,438,761 (GRCm39) T627K probably damaging Het
Zfyve16 A T 13: 92,658,693 (GRCm39) I406K probably benign Het
Zfyve9 A C 4: 108,575,195 (GRCm39) S629A possibly damaging Het
Zpld1 A T 16: 55,068,618 (GRCm39) N164K probably damaging Het
Other mutations in Abcg5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01138:Abcg5 APN 17 84,972,275 (GRCm39) missense possibly damaging 0.73
IGL01844:Abcg5 APN 17 84,989,453 (GRCm39) missense probably damaging 1.00
IGL02002:Abcg5 APN 17 84,989,479 (GRCm39) nonsense probably null
IGL02116:Abcg5 APN 17 84,981,018 (GRCm39) missense possibly damaging 0.67
IGL02339:Abcg5 APN 17 84,981,032 (GRCm39) missense possibly damaging 0.95
IGL02568:Abcg5 APN 17 84,977,827 (GRCm39) missense probably damaging 0.99
PIT4142001:Abcg5 UTSW 17 84,981,022 (GRCm39) missense possibly damaging 0.59
R0539:Abcg5 UTSW 17 84,976,503 (GRCm39) missense probably benign 0.01
R1104:Abcg5 UTSW 17 84,989,477 (GRCm39) missense possibly damaging 0.78
R1795:Abcg5 UTSW 17 84,981,007 (GRCm39) missense probably damaging 1.00
R1956:Abcg5 UTSW 17 84,977,803 (GRCm39) missense probably damaging 1.00
R1970:Abcg5 UTSW 17 84,981,030 (GRCm39) frame shift probably null
R2007:Abcg5 UTSW 17 84,977,348 (GRCm39) missense probably damaging 1.00
R2118:Abcg5 UTSW 17 84,978,575 (GRCm39) missense probably benign 0.06
R2120:Abcg5 UTSW 17 84,978,575 (GRCm39) missense probably benign 0.06
R2121:Abcg5 UTSW 17 84,978,575 (GRCm39) missense probably benign 0.06
R2122:Abcg5 UTSW 17 84,978,575 (GRCm39) missense probably benign 0.06
R2124:Abcg5 UTSW 17 84,978,575 (GRCm39) missense probably benign 0.06
R2858:Abcg5 UTSW 17 84,977,648 (GRCm39) critical splice donor site probably null
R3121:Abcg5 UTSW 17 84,966,091 (GRCm39) missense probably benign 0.33
R4694:Abcg5 UTSW 17 84,979,586 (GRCm39) missense probably damaging 1.00
R4963:Abcg5 UTSW 17 84,967,569 (GRCm39) nonsense probably null
R5187:Abcg5 UTSW 17 84,965,992 (GRCm39) missense probably damaging 1.00
R5348:Abcg5 UTSW 17 84,978,634 (GRCm39) missense possibly damaging 0.92
R5445:Abcg5 UTSW 17 84,978,557 (GRCm39) missense probably damaging 1.00
R5580:Abcg5 UTSW 17 84,967,582 (GRCm39) missense probably damaging 1.00
R5807:Abcg5 UTSW 17 84,979,719 (GRCm39) missense probably damaging 0.99
R6007:Abcg5 UTSW 17 84,976,392 (GRCm39) missense probably benign 0.01
R7303:Abcg5 UTSW 17 84,977,774 (GRCm39) missense probably damaging 1.00
R7324:Abcg5 UTSW 17 84,983,667 (GRCm39) missense possibly damaging 0.82
R7639:Abcg5 UTSW 17 84,977,531 (GRCm39) missense probably benign
R7844:Abcg5 UTSW 17 84,981,018 (GRCm39) missense possibly damaging 0.67
R7996:Abcg5 UTSW 17 84,977,490 (GRCm39) missense probably damaging 1.00
R8083:Abcg5 UTSW 17 84,965,971 (GRCm39) missense probably damaging 1.00
R8103:Abcg5 UTSW 17 84,965,956 (GRCm39) missense possibly damaging 0.49
R8258:Abcg5 UTSW 17 84,983,523 (GRCm39) missense possibly damaging 0.88
R8259:Abcg5 UTSW 17 84,983,523 (GRCm39) missense possibly damaging 0.88
R8831:Abcg5 UTSW 17 84,976,423 (GRCm39) missense probably damaging 1.00
R8871:Abcg5 UTSW 17 84,990,295 (GRCm39) missense probably benign 0.01
R8921:Abcg5 UTSW 17 84,990,253 (GRCm39) missense probably benign 0.01
R9074:Abcg5 UTSW 17 84,972,257 (GRCm39) synonymous silent
R9123:Abcg5 UTSW 17 84,976,425 (GRCm39) missense probably damaging 1.00
R9125:Abcg5 UTSW 17 84,976,425 (GRCm39) missense probably damaging 1.00
R9291:Abcg5 UTSW 17 84,976,380 (GRCm39) missense probably benign 0.07
Z1177:Abcg5 UTSW 17 84,983,699 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- TGTAGACAGTACTTCTCTGTGC -3'
(R):5'- TCTGGGTTCTCCGAACACTG -3'

Sequencing Primer
(F):5'- GCGTGCCTGCCCATTAAC -3'
(R):5'- CCGAACACTGTGTGTCTTTCATGAAG -3'
Posted On 2016-03-01