Mutagenetix > Incidental Mutation

Incidental Mutation 'R2120:Abcg5'

231419

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

040124-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.320) question?

Stock #

R2120 (G1)

Quality Score

225

Status

Validated

Chromosome

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (86/86)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,259,013 (GRCm39)		probably benign	Het
Actrt2	C	T	4: 154,751,551 (GRCm39)	R195Q	probably benign	Het
Adamts12	C	T	15: 11,310,665 (GRCm39)	T974I	probably damaging	Het
Ankrd65	A	G	4: 155,876,530 (GRCm39)	T239A	probably benign	Het
Ano7	G	T	1: 93,329,855 (GRCm39)		probably benign	Het
Apc	A	T	18: 34,409,654 (GRCm39)	E198V	probably damaging	Het
Arhgef10	A	G	8: 14,984,820 (GRCm39)	D200G	probably damaging	Het
Atp9a	A	T	2: 168,495,457 (GRCm39)	V583E	probably damaging	Het
Bicral	C	T	17: 47,135,741 (GRCm39)	A490T	probably benign	Het
C1rl	C	T	6: 124,485,672 (GRCm39)	P348S	probably damaging	Het
Cog1	T	C	11: 113,540,424 (GRCm39)	L13P	probably damaging	Het
Cx3cr1	T	A	9: 119,880,749 (GRCm39)	T218S	probably damaging	Het
Cyp2a12	A	G	7: 26,736,071 (GRCm39)	*493W	probably null	Het
Dmd	G	C	X: 83,356,089 (GRCm39)	A2257P	probably benign	Het
E2f4	A	G	8: 106,026,973 (GRCm39)	Y179C	probably damaging	Het
Ecel1	A	G	1: 87,075,997 (GRCm39)	S727P	probably damaging	Het
Endod1	T	C	9: 14,268,949 (GRCm39)	N179D	probably benign	Het
Epc2	C	T	2: 49,437,621 (GRCm39)		probably benign	Het
Ets2	G	T	16: 95,519,977 (GRCm39)	R401L	probably benign	Het
Fgd4	C	T	16: 16,243,692 (GRCm39)	C614Y	probably benign	Het
Fgf18	A	C	11: 33,068,003 (GRCm39)	F129C	probably damaging	Het
Frem3	A	T	8: 81,342,086 (GRCm39)	T1460S	probably benign	Het
H2-M1	T	G	17: 36,980,929 (GRCm39)	T336P	possibly damaging	Het
Ikbkb	T	C	8: 23,157,233 (GRCm39)		probably benign	Het
Ipo7	G	T	7: 109,648,838 (GRCm39)	D704Y	probably damaging	Het
Jaml	T	A	9: 45,012,362 (GRCm39)	I283N	probably damaging	Het
Jarid2	G	T	13: 45,059,812 (GRCm39)	M681I	probably benign	Het
Kif4-ps	T	C	12: 101,113,956 (GRCm39)	L695P	probably damaging	Het
Kmt2d	A	G	15: 98,737,410 (GRCm39)		probably benign	Het
Krt25	T	C	11: 99,212,023 (GRCm39)	T205A	probably benign	Het
Lif	T	C	11: 4,219,051 (GRCm39)	V110A	possibly damaging	Het
Ltbp1	T	A	17: 75,617,154 (GRCm39)	V1031E	possibly damaging	Het
Ltbr	A	G	6: 125,286,440 (GRCm39)	S249P	probably benign	Het
Man2b1	A	G	8: 85,819,653 (GRCm39)		probably benign	Het
Med16	A	T	10: 79,738,916 (GRCm39)	M290K	possibly damaging	Het
Mov10l1	C	A	15: 88,891,830 (GRCm39)	Q562K	probably benign	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
Mtmr6	T	C	14: 60,534,108 (GRCm39)	F449L	probably damaging	Het
Myt1l	A	T	12: 29,833,618 (GRCm39)		probably null	Het
Neb	A	G	2: 52,154,076 (GRCm39)	F2345S	probably damaging	Het
Nlrp6	T	C	7: 140,506,357 (GRCm39)	V766A	probably benign	Het
Or11g27	T	C	14: 50,771,403 (GRCm39)	I178T	probably damaging	Het
Or4k36	A	G	2: 111,145,844 (GRCm39)	T7A	probably benign	Het
Or6d13	A	T	6: 116,517,416 (GRCm39)	M1L	probably null	Het
Or8k22	G	A	2: 86,163,689 (GRCm39)	R4C	probably benign	Het
Patj	T	A	4: 98,344,462 (GRCm39)	D591E	probably benign	Het
Pde6d	A	G	1: 86,473,524 (GRCm39)	F91L	probably benign	Het
Pitpnm2	G	A	5: 124,265,332 (GRCm39)	P757L	probably damaging	Het
Plcd4	A	G	1: 74,603,584 (GRCm39)	T662A	probably benign	Het
Podn	C	T	4: 107,880,558 (GRCm39)	A31T	probably damaging	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
Psmd1	T	A	1: 86,006,422 (GRCm39)	S263T	possibly damaging	Het
Pum1	C	A	4: 130,396,581 (GRCm39)	T112K	possibly damaging	Het
Rab3gap2	A	T	1: 184,993,564 (GRCm39)	D782V	possibly damaging	Het
Rasgrp2	T	A	19: 6,454,425 (GRCm39)	M156K	probably benign	Het
Reln	G	A	5: 22,174,083 (GRCm39)	H2007Y	probably damaging	Het
Rhbdl2	T	A	4: 123,718,712 (GRCm39)	I222K	probably damaging	Het
Rimbp2	A	G	5: 128,865,582 (GRCm39)	S582P	probably damaging	Het
Rpe	T	C	1: 66,754,387 (GRCm39)	M153T	probably damaging	Het
Sars1	T	C	3: 108,341,472 (GRCm39)	I114V	probably benign	Het
Scamp5	C	A	9: 57,354,508 (GRCm39)	V49F	possibly damaging	Het
Sec14l1	C	T	11: 117,039,358 (GRCm39)		probably benign	Het
Serpinb8	A	G	1: 107,533,617 (GRCm39)	E224G	probably damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Slco6c1	C	T	1: 96,993,808 (GRCm39)	R645H	possibly damaging	Het
Srgn	T	A	10: 62,343,413 (GRCm39)		probably benign	Het
Stk40	C	T	4: 126,022,640 (GRCm39)	T138I	probably benign	Het
Syt10	C	T	15: 89,674,979 (GRCm39)	D456N	probably damaging	Het
Tada3	T	C	6: 113,347,976 (GRCm39)	I263V	possibly damaging	Het
Tas2r106	A	T	6: 131,655,317 (GRCm39)	L178H	probably damaging	Het
Tas2r115	T	A	6: 132,714,470 (GRCm39)	R160S	possibly damaging	Het
Trak1	T	A	9: 121,302,063 (GRCm39)	*940R	probably null	Het
Trp53bp2	A	G	1: 182,269,204 (GRCm39)	M223V	probably benign	Het
Ttc21b	C	T	2: 66,057,098 (GRCm39)	V625I	probably benign	Het
Txnrd1	T	A	10: 82,723,067 (GRCm39)	C421S	possibly damaging	Het
Unc45a	T	C	7: 79,989,846 (GRCm39)	T8A	probably benign	Het
Usp6nl	T	A	2: 6,445,748 (GRCm39)	V552E	probably damaging	Het
Vmn2r115	T	G	17: 23,578,297 (GRCm39)	L590R	probably damaging	Het
Vmn2r88	A	T	14: 51,650,665 (GRCm39)	H126L	probably benign	Het
Vps13c	A	G	9: 67,826,616 (GRCm39)	D1419G	possibly damaging	Het
Vwa3a	A	G	7: 120,391,641 (GRCm39)	T776A	probably benign	Het
Zfp580	T	C	7: 5,056,008 (GRCm39)	Y123H	probably damaging	Het

Other mutations in Abcg5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- GGTGTCATCCATGCCAAAATC -3'
(R):5'- CCCAAGTGTGATTGATTCTGGG -3'

Sequencing Primer
(F):5'- TGATCCCTAGAAGCCATGTCG -3'
(R):5'- TCTGGGACTCAGAGGCATATAAC -3'

Posted On

2014-09-18