Mutagenetix > Incidental Mutation

Incidental Mutation 'R8259:Abcg5'

640483

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

067650-MU

Accession Numbers

Essential gene?

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

Stock #

R8259 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

84965662-84990439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 84983523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 144 (T144P)

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: T144P

PolyPhen 2 Score 0.879 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000069495
Gene: ENSMUSG00000040505
AA Change: T144P

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

possibly damaging
Transcript: ENSMUST00000163375
AA Change: T62P

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000130783
Gene: ENSMUSG00000040505
AA Change: T62P

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

Meta Mutation Damage Score

0.7655

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (82/82)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	T	7: 119,939,422 (GRCm39)	H272L	probably benign	Het
Adam34	G	A	8: 44,104,646 (GRCm39)	S333L	probably benign	Het
Adcy6	A	G	15: 98,498,919 (GRCm39)	F294S	probably damaging	Het
Adhfe1	A	G	1: 9,628,417 (GRCm39)	N263S	probably null	Het
Aebp2	A	T	6: 140,583,453 (GRCm39)	Q309L	possibly damaging	Het
Akap7	A	G	10: 25,047,054 (GRCm39)	Y281H	probably damaging	Het
Aplf	T	C	6: 87,606,987 (GRCm39)	R476G	probably benign	Het
Atg2a	G	A	19: 6,299,859 (GRCm39)	A588T	probably damaging	Het
Birc6	A	G	17: 74,905,073 (GRCm39)	T1289A	probably benign	Het
Cacna1d	A	G	14: 29,773,475 (GRCm39)	S1759P	probably benign	Het
Calcoco1	T	C	15: 102,624,228 (GRCm39)	D236G	probably damaging	Het
Camsap2	A	T	1: 136,208,077 (GRCm39)	D470E	probably benign	Het
Capn8	G	T	1: 182,392,698 (GRCm39)	V25L	probably benign	Het
Card10	A	G	15: 78,660,884 (GRCm39)	V1041A	probably damaging	Het
Ccr1	T	A	9: 123,764,119 (GRCm39)	H137L	probably damaging	Het
Cdh23	A	T	10: 60,151,435 (GRCm39)	D2483E	probably damaging	Het
Chd2	G	T	7: 73,085,532 (GRCm39)	Q1701K	probably benign	Het
Ckmt2	T	A	13: 92,007,335 (GRCm39)	R286S	probably damaging	Het
Clhc1	G	A	11: 29,503,746 (GRCm39)	R54Q	probably benign	Het
Cntnap3	T	A	13: 64,935,681 (GRCm39)	D394V	probably damaging	Het
Comp	A	G	8: 70,831,704 (GRCm39)	D441G	probably damaging	Het
Cyp20a1	G	A	1: 60,391,330 (GRCm39)		probably null	Het
Cyp27a1	A	T	1: 74,771,214 (GRCm39)	D133V	probably benign	Het
Cyp2a12	C	T	7: 26,732,083 (GRCm39)	Q275*	probably null	Het
Dnhd1	A	T	7: 105,343,995 (GRCm39)	I1780L	probably benign	Het
Dpy19l2	A	G	9: 24,580,702 (GRCm39)	V213A	probably benign	Het
Eml1	A	T	12: 108,476,458 (GRCm39)	I283F	probably damaging	Het
Ep300	A	G	15: 81,523,218 (GRCm39)	T1281A	unknown	Het
Ercc6l2	G	A	13: 64,020,285 (GRCm39)	E803K		Het
Fat3	A	G	9: 15,901,887 (GRCm39)	V3046A	possibly damaging	Het
Fbxw20	A	G	9: 109,063,763 (GRCm39)	V3A	probably benign	Het
Fcgr2b	A	G	1: 170,795,702 (GRCm39)	S76P	possibly damaging	Het
Fgg	C	T	3: 82,917,477 (GRCm39)	Q169*	probably null	Het
Flnb	A	G	14: 7,889,183 (GRCm38)	Y511C	probably damaging	Het
Ggt5	G	A	10: 75,450,666 (GRCm39)	V558I	probably benign	Het
Gm4779	G	C	X: 100,837,390 (GRCm39)	T171S	possibly damaging	Het
Greb1	A	T	12: 16,774,925 (GRCm39)	C157*	probably null	Het
Grid2ip	A	G	5: 143,348,344 (GRCm39)	E145G	probably benign	Het
Hdac11	T	A	6: 91,149,210 (GRCm39)	V238E	probably damaging	Het
Herc2	A	G	7: 55,855,638 (GRCm39)	D3858G	probably damaging	Het
Hoxc4	A	G	15: 102,943,165 (GRCm39)	Y6C	probably damaging	Het
Incenp	A	G	19: 9,870,993 (GRCm39)	L212P	unknown	Het
Incenp	G	C	19: 9,871,005 (GRCm39)	T208R	unknown	Het
Mctp1	T	A	13: 76,949,666 (GRCm39)		probably null	Het
Megf8	T	C	7: 25,057,848 (GRCm39)	M2095T	probably benign	Het
Mroh2b	G	A	15: 4,941,391 (GRCm39)	V308I	probably benign	Het
Muc1	T	A	3: 89,139,341 (GRCm39)	H580Q	probably damaging	Het
Naip6	A	T	13: 100,452,920 (GRCm39)	M47K	probably benign	Het
Nectin3	C	T	16: 46,256,754 (GRCm39)	R419Q	probably benign	Het
Nlrp4g	T	G	9: 124,353,392 (GRCm38)	Y579D	noncoding transcript	Het
Nrxn1	C	A	17: 90,471,249 (GRCm39)	R1260L	probably damaging	Het
Nynrin	A	G	14: 56,100,815 (GRCm39)	I202V	possibly damaging	Het
Or14j7	T	C	17: 38,234,847 (GRCm39)	L130P	probably damaging	Het
Or51e2	A	G	7: 102,392,034 (GRCm39)	Y59H	probably damaging	Het
Or5ac17	T	C	16: 59,036,458 (GRCm39)	I173V	probably benign	Het
Or5b98	T	C	19: 12,931,727 (GRCm39)	M258T	possibly damaging	Het
Pard3	G	A	8: 128,098,021 (GRCm39)	W354*	probably null	Het
Pcnx3	C	T	19: 5,715,412 (GRCm39)	G1946E	probably damaging	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Prune2	A	G	19: 17,189,672 (GRCm39)	R3052G	unknown	Het
Prx	T	C	7: 27,218,808 (GRCm39)	L1242P	probably damaging	Het
Pxylp1	A	G	9: 96,707,633 (GRCm39)	I183T	probably benign	Het
Ranbp2	A	G	10: 58,291,755 (GRCm39)	E254G	probably benign	Het
Ren1	C	T	1: 133,278,534 (GRCm39)	R31*	probably null	Het
Rhot2	C	A	17: 26,058,864 (GRCm39)	R512L	probably benign	Het
Rpa1	T	C	11: 75,193,550 (GRCm39)	N594D	probably benign	Het
Rpp14	T	G	14: 8,090,526 (GRCm38)	V150G	probably null	Het
Rxfp2	T	A	5: 149,983,365 (GRCm39)	I300K	probably damaging	Het
Sbno1	A	T	5: 124,519,759 (GRCm39)	V1173E	probably damaging	Het
Scarf1	T	A	11: 75,414,689 (GRCm39)	S486T	probably damaging	Het
Slc24a4	T	C	12: 102,220,928 (GRCm39)	V455A	probably damaging	Het
Slitrk1	A	G	14: 109,148,653 (GRCm39)	V686A	probably benign	Het
Spata31e2	T	C	1: 26,721,562 (GRCm39)	E1206G	probably benign	Het
Ston2	A	T	12: 91,608,454 (GRCm39)	I882N	probably benign	Het
Syne2	C	A	12: 75,996,143 (GRCm39)	Q2228K	possibly damaging	Het
Tcf20	A	C	15: 82,736,474 (GRCm39)	F1659C	probably damaging	Het
Tenm4	G	A	7: 96,517,198 (GRCm39)	G1430S	probably damaging	Het
Tlr12	C	A	4: 128,511,492 (GRCm39)	A253S	probably benign	Het
Tmem87a	A	G	2: 120,227,928 (GRCm39)	F73S	possibly damaging	Het
Trpm1	G	A	7: 63,918,777 (GRCm39)	A1590T	probably benign	Het
Usp13	C	T	3: 32,971,748 (GRCm39)	Q743*	probably null	Het
Vmn1r184	T	A	7: 25,966,686 (GRCm39)	M144K	probably benign	Het
Wee2	A	G	6: 40,421,114 (GRCm39)	D68G	probably benign	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
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
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'- TCATGTAGCTGCCGCTTAGG -3'
(R):5'- AAAGGTCTGGAGAAGTGCCC -3'

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

Posted On

2020-07-28