Incidental Mutation 'R2124:Abcg5'
ID 229704
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 040127-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.303) question?
Stock # R2124 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 84965662-84990439 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 84978575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 294 (E294D)
Ref Sequence ENSEMBL: ENSMUSP00000069495 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066175] [ENSMUST00000163375]
AlphaFold Q99PE8
Predicted Effect probably benign
Transcript: ENSMUST00000066175
AA Change: E294D

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: E294D

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 probably benign
Transcript: ENSMUST00000163375
SMART Domains Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171544
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172439
Meta Mutation Damage Score 0.0828 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933430I17Rik T A 4: 62,457,109 (GRCm39) L143M possibly damaging Het
Abca13 T C 11: 9,259,013 (GRCm39) probably benign Het
Adgrg6 T C 10: 14,342,930 (GRCm39) D339G probably damaging Het
Ahctf1 C A 1: 179,597,017 (GRCm39) R43L probably damaging Het
Ambn T A 5: 88,608,617 (GRCm39) probably benign Het
Arap3 A C 18: 38,106,403 (GRCm39) L1480R probably damaging Het
Arhgef10 A G 8: 14,984,820 (GRCm39) D200G probably damaging Het
Aspg G A 12: 112,087,608 (GRCm39) V8I probably benign Het
Aven T A 2: 112,455,541 (GRCm39) W26R probably damaging Het
Car4 T A 11: 84,854,911 (GRCm39) probably benign Het
Cd163 C T 6: 124,295,815 (GRCm39) R720C probably damaging Het
Cdh1 A G 8: 107,390,842 (GRCm39) I653V probably benign Het
Cdh3 A T 8: 107,279,520 (GRCm39) H712L probably damaging Het
Cdr2 T C 7: 120,581,250 (GRCm39) E9G probably damaging Het
Cfap47 T C X: 78,553,927 (GRCm39) I267V probably benign Het
Chrnb2 T C 3: 89,676,648 (GRCm39) probably benign Het
Col4a2 C A 8: 11,466,070 (GRCm39) P443Q probably damaging Het
Cyp2a12 A G 7: 26,736,071 (GRCm39) *493W probably null Het
Ddias T C 7: 92,507,464 (GRCm39) Q817R probably benign Het
Ddx6 C T 9: 44,535,816 (GRCm39) Q182* probably null Het
Dhrs7 A G 12: 72,699,951 (GRCm39) I227T probably damaging Het
Dhx8 A T 11: 101,653,071 (GRCm39) M970L probably damaging Het
Dnah7a A T 1: 53,536,101 (GRCm39) D2647E possibly damaging Het
Dstyk G A 1: 132,380,857 (GRCm39) G451R possibly damaging Het
Ednrb T A 14: 104,059,204 (GRCm39) D274V probably benign Het
Efl1 C T 7: 82,342,121 (GRCm39) R510C probably damaging Het
Eif4g3 A G 4: 137,912,053 (GRCm39) E1409G probably damaging Het
Fam78b G A 1: 166,906,278 (GRCm39) V146M probably damaging Het
Fcgbp T C 7: 27,791,444 (GRCm39) Y902H probably benign Het
Fgf18 A C 11: 33,068,003 (GRCm39) F129C probably damaging Het
Gbp9 T A 5: 105,242,409 (GRCm39) D110V probably damaging Het
Gm10477 A G X: 55,570,192 (GRCm39) K31E probably damaging Het
Gm10542 T A 18: 44,334,355 (GRCm39) W9R probably null Het
Gpaa1 A G 15: 76,217,552 (GRCm39) Y330C probably damaging Het
Hectd4 T C 5: 121,456,702 (GRCm39) L689P probably damaging Het
Hoxd3 C A 2: 74,574,578 (GRCm39) P75T possibly damaging Het
Ikbkb A G 8: 23,156,036 (GRCm39) L570P probably damaging Het
Ikbkb T C 8: 23,157,233 (GRCm39) probably benign Het
Il1rap A T 16: 26,529,315 (GRCm39) H379L probably damaging Het
Ints6l T A X: 55,550,228 (GRCm39) S718T probably benign Het
Jaml T A 9: 45,012,362 (GRCm39) I283N probably damaging Het
Kidins220 G A 12: 25,091,302 (GRCm39) probably null Het
Kif1b T C 4: 149,306,753 (GRCm39) D869G probably benign Het
Loxl2 T C 14: 69,929,859 (GRCm39) Y746H probably benign Het
Ltbr A G 6: 125,286,440 (GRCm39) S249P probably benign Het
Mageb5 A G X: 90,823,701 (GRCm39) I226T probably damaging Het
Msantd2 C T 9: 37,434,227 (GRCm39) R357W probably damaging Het
Mtcl2 T C 2: 156,875,245 (GRCm39) E835G probably damaging Het
Neb A G 2: 52,154,076 (GRCm39) F2345S probably damaging Het
Or7e173 T G 9: 19,938,797 (GRCm39) I146L probably benign Het
Pabpc4l T C 3: 46,401,276 (GRCm39) T123A probably benign Het
Plekhg4 TAGTCGATGCCCGAGTC TAGTC 8: 106,103,084 (GRCm39) probably benign Het
Prkdc T C 16: 15,537,297 (GRCm39) V1716A probably benign Het
Prss37 G A 6: 40,492,294 (GRCm39) R186* probably null Het
Psg20 T A 7: 18,414,947 (GRCm39) Y316F probably benign Het
Rasgrp2 T A 19: 6,454,425 (GRCm39) M156K probably benign Het
Rims1 T A 1: 22,474,732 (GRCm39) R200* probably null Het
Rnf168 T G 16: 32,097,036 (GRCm39) L37R probably damaging Het
Sall3 C T 18: 81,015,012 (GRCm39) G972D probably benign Het
Sap18 T A 14: 58,036,011 (GRCm39) S66T probably damaging Het
Scamp5 C A 9: 57,354,508 (GRCm39) V49F possibly damaging Het
Sdk1 C A 5: 142,170,943 (GRCm39) D1935E possibly damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Syt16 T A 12: 74,285,009 (GRCm39) S401T probably damaging Het
Tas2r106 A T 6: 131,655,317 (GRCm39) L178H probably damaging Het
Tbcd A G 11: 121,494,146 (GRCm39) Y983C probably damaging Het
Tenm3 A G 8: 48,870,041 (GRCm39) probably null Het
Tll1 T C 8: 64,538,591 (GRCm39) E351G probably benign Het
Tmem44 T A 16: 30,366,262 (GRCm39) K55* probably null Het
Top2a T C 11: 98,895,054 (GRCm39) I849V probably benign Het
Ttn A G 2: 76,624,792 (GRCm39) V13516A probably damaging Het
Uxs1 A G 1: 43,814,006 (GRCm39) L77P probably damaging Het
Vmn2r121 A T X: 123,043,439 (GRCm39) probably null Het
Vmn2r84 A C 10: 130,227,100 (GRCm39) M246R probably damaging Het
Vps13b T A 15: 35,646,226 (GRCm39) N1443K probably benign Het
Wfdc6b C T 2: 164,459,363 (GRCm39) R142C probably benign Het
Zfp616 A G 11: 73,973,869 (GRCm39) probably null Het
Zmym1 T C 4: 126,943,363 (GRCm39) T244A probably benign 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
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
R4835:Abcg5 UTSW 17 84,966,076 (GRCm39) missense possibly damaging 0.95
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'- CTAGAAGAGCCGGTGTCATC -3'
(R):5'- CTGGGACTCAGAGGCATATAAC -3'

Sequencing Primer
(F):5'- TGATCCCTAGAAGCCATGTCG -3'
(R):5'- TGGGACTCAGAGGCATATAACAACAC -3'
Posted On 2014-09-17