Mutagenetix > Incidental Mutation

Incidental Mutation 'R7324:Abcg5'

568788

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

045418-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.303) question?

Stock #

R7324 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84965662-84990439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 84983667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 124 (D124G)

Ref Sequence

ENSEMBL: ENSMUSP00000069495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000066175] [ENSMUST00000163375] [ENSMUST00000170725]

AlphaFold

Q99PE8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000066175
AA Change: D124G

PolyPhen 2 Score 0.818 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: D124G

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
AA Change: D42G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505
AA Change: D42G

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

probably benign
Transcript: ENSMUST00000170725

SMART Domains

Protein: ENSMUSP00000127785
Gene: ENSMUSG00000024254

Domain	Start	End	E-Value	Type
Pfam:ABC_tran	1	115	2.6e-18	PFAM
Pfam:ABC2_membrane	270	481	7.4e-38	PFAM
transmembrane domain	513	535	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

99% (81/82)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr3	C	G	1: 90,141,923 (GRCm39)	N127K	probably damaging	Het
AL732309.1	A	C	2: 25,136,151 (GRCm39)	M21R	possibly damaging	Het
Ankrd52	C	A	10: 128,222,032 (GRCm39)	T552K	possibly damaging	Het
Arhgap28	T	C	17: 68,202,879 (GRCm39)		probably null	Het
Arid5b	A	T	10: 67,964,752 (GRCm39)	N306K	probably benign	Het
C1qtnf3	A	C	15: 10,952,707 (GRCm39)	K56N	probably benign	Het
C2	C	T	17: 35,100,664 (GRCm39)	G52D	probably benign	Het
Casz1	C	T	4: 149,031,490 (GRCm39)	T1247M	probably damaging	Het
Cc2d2b	A	G	19: 40,797,552 (GRCm39)	D778G	unknown	Het
Cdh5	A	G	8: 104,869,425 (GRCm39)	D717G	probably damaging	Het
Clca3a2	G	A	3: 144,514,372 (GRCm39)	A445V	probably damaging	Het
Clca3b	T	A	3: 144,547,181 (GRCm39)	M319L	possibly damaging	Het
Csmd1	G	A	8: 16,108,721 (GRCm39)	S1894L	probably damaging	Het
Csnk1g3	A	G	18: 54,052,090 (GRCm39)	T220A	probably damaging	Het
Cyp2d10	T	G	15: 82,287,961 (GRCm39)	T381P	probably damaging	Het
Ddb2	G	A	2: 91,067,229 (GRCm39)		probably benign	Het
Ddx24	C	A	12: 103,382,518 (GRCm39)	L688F	probably damaging	Het
Dennd4c	T	C	4: 86,747,975 (GRCm39)	L1615P	unknown	Het
Dnah8	T	A	17: 31,003,099 (GRCm39)	D3599E	probably benign	Het
Dst	T	C	1: 34,045,305 (GRCm39)	S13P	possibly damaging	Het
Efcab12	T	C	6: 115,800,555 (GRCm39)	D156G	probably benign	Het
Enpp2	A	G	15: 54,741,170 (GRCm39)		probably null	Het
Ephx2	A	G	14: 66,322,803 (GRCm39)	V490A	probably damaging	Het
Etnppl	A	G	3: 130,423,224 (GRCm39)	N308D	probably damaging	Het
F5	TCAGAAGACCTCCTCCCCAGACCTGGGCCAGGTGCCCCTTTCTCCAGATGACAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	TCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGTCCCTTTCTCCAGATGATAACCAGAAGACCTCCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCTAGATGACAACCAGAAGACGACCTCCCCAGACCTGGGTCAGGTGCCCCTTTCTCCAGATGACAACCAGA	1: 164,021,150 (GRCm39)		probably benign	Het
Fam162b	A	T	10: 51,466,282 (GRCm39)		probably null	Het
Fancl	A	G	11: 26,353,362 (GRCm39)	E86G	probably damaging	Het
Flii	G	A	11: 60,609,866 (GRCm39)	T615I	probably benign	Het
Fndc7	G	T	3: 108,779,537 (GRCm39)	Q336K	probably benign	Het
Gm26661	T	C	14: 7,791,911 (GRCm38)	C109R	unknown	Het
H2-DMb1	T	C	17: 34,378,436 (GRCm39)		probably null	Het
H2-T10	C	T	17: 36,430,189 (GRCm39)	G251R	probably damaging	Het
Harbi1	T	C	2: 91,551,044 (GRCm39)	I339T	probably benign	Het
Hsp90aa1	A	G	12: 110,661,659 (GRCm39)	M119T	unknown	Het
Ighe	T	A	12: 113,235,954 (GRCm39)	Y124F		Het
Ighv7-1	T	C	12: 113,860,149 (GRCm39)	Y81C	probably damaging	Het
Ilkap	A	T	1: 91,313,115 (GRCm39)		probably null	Het
Inpp5a	A	G	7: 139,105,586 (GRCm39)	D179G	probably damaging	Het
Itgad	A	T	7: 127,788,979 (GRCm39)	D510V	probably damaging	Het
Kcnn2	A	T	18: 45,693,138 (GRCm39)	H238L	probably benign	Het
Kctd17	T	A	15: 78,319,842 (GRCm39)	C189S	probably damaging	Het
Larp4b	C	A	13: 9,208,616 (GRCm39)	A423E	probably benign	Het
Llgl2	A	G	11: 115,741,556 (GRCm39)	E562G	possibly damaging	Het
Macf1	T	C	4: 123,268,218 (GRCm39)	T6734A	probably benign	Het
Maz	G	A	7: 126,623,765 (GRCm39)	T377M	probably damaging	Het
Mmrn1	G	T	6: 60,921,917 (GRCm39)	G125*	probably null	Het
Mvp	A	G	7: 126,592,781 (GRCm39)	S377P	probably benign	Het
Nin	C	T	12: 70,090,508 (GRCm39)	R969Q		Het
Nktr	C	T	9: 121,556,427 (GRCm39)	T35I	probably damaging	Het
Nktr	T	A	9: 121,577,357 (GRCm39)	M475K	possibly damaging	Het
Nod2	T	A	8: 89,379,694 (GRCm39)	V65D	probably damaging	Het
Opa1	A	T	16: 29,405,799 (GRCm39)	E121D	probably benign	Het
Or10w3	C	T	19: 13,704,270 (GRCm39)	A215V	probably benign	Het
Or1r1	A	G	11: 73,874,669 (GRCm39)	V255A	probably benign	Het
Or2n1c	T	C	17: 38,519,607 (GRCm39)	V157A	probably benign	Het
Or4a76	A	T	2: 89,460,447 (GRCm39)	I265N	possibly damaging	Het
Or5ac21	T	C	16: 59,123,611 (GRCm39)	F32L	probably benign	Het
Or5b123	A	G	19: 13,596,942 (GRCm39)	I96V	probably benign	Het
Or6c88	T	A	10: 129,406,718 (GRCm39)	S65T	probably damaging	Het
Or7e174	A	T	9: 20,012,726 (GRCm39)	I224F	possibly damaging	Het
Osbpl2	A	G	2: 179,791,994 (GRCm39)	T233A	probably benign	Het
Pcp4l1	G	A	1: 171,002,034 (GRCm39)	A42V	possibly damaging	Het
Plekhh3	T	A	11: 101,061,600 (GRCm39)	D38V	possibly damaging	Het
Prtg	C	T	9: 72,798,122 (GRCm39)	A696V	probably damaging	Het
Ptpn14	T	G	1: 189,595,621 (GRCm39)	V748G	possibly damaging	Het
Reg2	A	T	6: 78,383,137 (GRCm39)	D28V	probably benign	Het
Rhpn1	A	T	15: 75,576,246 (GRCm39)	I2F	possibly damaging	Het
Rundc3a	A	G	11: 102,290,799 (GRCm39)	E294G	possibly damaging	Het
Scara3	T	A	14: 66,168,865 (GRCm39)	I251L	probably benign	Het
Slc23a2	G	A	2: 131,931,043 (GRCm39)	T152I	probably damaging	Het
Slc39a2	T	G	14: 52,131,650 (GRCm39)	S74A	possibly damaging	Het
Tmprss15	T	C	16: 78,758,907 (GRCm39)	Y937C	probably damaging	Het
Tpp2	T	C	1: 44,017,938 (GRCm39)	L779S	probably damaging	Het
Tssk2	T	C	16: 17,717,227 (GRCm39)	V210A	possibly damaging	Het
Ttn	T	A	2: 76,725,937 (GRCm39)	T6100S	unknown	Het
Tufm	G	A	7: 126,088,759 (GRCm39)	E317K	possibly damaging	Het
Vinac1	T	C	2: 128,879,772 (GRCm39)	D718G	unknown	Het
Wdfy4	A	G	14: 32,769,271 (GRCm39)	S2219P		Het
Wtap	T	C	17: 13,199,833 (GRCm39)	N50S	possibly 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
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
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
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'- TGTTGTAGAAGTCCGCGGAG -3'
(R):5'- TCCCATTGAAACACAAAAGGTCTG -3'

Sequencing Primer
(F):5'- GCAGAGGGCCAGCATCG -3'
(R):5'- TCTGGAGAAGTGCCCCCATTC -3'

Posted On

2019-09-13