Mutagenetix > Incidental Mutations

Incidental Mutation 'R1165:Abcg2'

100928

Institutional Source

Beutler Lab

Gene Symbol

Abcg2

Ensembl Gene

ENSMUSG00000029802

Gene Name

ATP binding cassette subfamily G member 2 (Junior blood group)

Synonyms

Bcrp

MMRRC Submission

039238-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58584523-58695676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58678300 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 407 (L407I)

Ref Sequence

ENSEMBL: ENSMUSP00000138608 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031822] [ENSMUST00000114294] [ENSMUST00000143752] [ENSMUST00000203146]

Predicted Effect

probably benign
Transcript: ENSMUST00000031822
AA Change: L407I

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000031822
Gene: ENSMUSG00000029802
AA Change: L407I

Domain	Start	End	E-Value	Type
AAA	71	269	9.08e-6	SMART
Pfam:ABC2_membrane	375	586	5.4e-42	PFAM
transmembrane domain	631	653	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000114294
AA Change: L407I

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000109933
Gene: ENSMUSG00000029802
AA Change: L407I

Domain	Start	End	E-Value	Type
AAA	71	269	9.08e-6	SMART
Pfam:ABC2_membrane	375	586	1.2e-40	PFAM
transmembrane domain	631	653	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134426

Predicted Effect

probably benign
Transcript: ENSMUST00000143752
AA Change: L407I

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000138608
Gene: ENSMUSG00000029802
AA Change: L407I

Domain	Start	End	E-Value	Type
AAA	71	269	9.08e-6	SMART
Pfam:ABC2_membrane	375	573	7.2e-30	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000145685
AA Change: L92I

Predicted Effect

probably benign
Transcript: ENSMUST00000203146

SMART Domains

Protein: ENSMUSP00000145435
Gene: ENSMUSG00000029802

Domain	Start	End	E-Value	Type
SCOP:d1jj7a_	33	129	7e-8	SMART
Blast:AAA	71	125	3e-32	BLAST

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.4%

Validation Efficiency

98% (50/51)

MGI Phenotype

FUNCTION: The membrane-associated protein encoded by this gene is included in 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. Alternatively referred to as a breast cancer resistance protein, the human protein functions as a xenobiotic transporter which may play a major role in multi-drug resistance. This protein likely serves as a cellular defense mechanism in response to mitoxantrone and anthracycline exposure. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit extreme sensitivity to the dietary chlorophyll-catabolite pheophorbide a, resulting in severe phototoxic skin lesions upon light exposure. Mutants show a novel form of protoporphyria, associated with a 10-fold increase in erythrocyte levels of protoporphyrin IX. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	C	17: 23,710,515		probably benign	Het
2210408I21Rik	T	G	13: 77,334,287	C1209G	probably benign	Het
Adtrp	A	G	13: 41,814,303	V56A	probably damaging	Het
Angptl6	T	G	9: 20,878,308	N96T	probably benign	Het
Ank3	C	A	10: 69,898,302	N780K	possibly damaging	Het
AU040320	A	T	4: 126,823,640		probably benign	Het
Best2	C	T	8: 85,011,160	R202H	probably benign	Het
Bod1l	A	T	5: 41,821,053	S973T	probably benign	Het
Brca2	T	A	5: 150,542,747	V1992E	probably damaging	Het
Casp8ap2	C	T	4: 32,640,563	P539L	probably benign	Het
Ccr1	A	T	9: 123,963,494	V333E	possibly damaging	Het
Celf5	A	T	10: 81,471,338	V83E	probably damaging	Het
Col15a1	T	C	4: 47,257,275		probably benign	Het
Coro1b	C	A	19: 4,149,902	H81N	probably damaging	Het
Cwc22	A	T	2: 77,903,898	S686T	probably damaging	Het
Cyp2d26	C	A	15: 82,794,041	G45W	probably damaging	Het
Dysf	T	A	6: 84,067,069	N297K	probably damaging	Het
Edem1	T	A	6: 108,851,253	L513Q	probably damaging	Het
Erich1	G	A	8: 14,090,530		probably benign	Het
Fam196b	A	G	11: 34,402,740	T261A	probably benign	Het
Fam91a1	T	C	15: 58,430,669	V286A	possibly damaging	Het
Fdxr	C	A	11: 115,271,782		probably benign	Het
Gas7	T	C	11: 67,670,686		probably benign	Het
Glb1l2	T	C	9: 26,794,101	D151G	probably damaging	Het
Gm14410	A	C	2: 177,193,489	Y327*	probably null	Het
H6pd	A	G	4: 149,995,956	I136T	possibly damaging	Het
Hectd1	A	T	12: 51,764,164		probably benign	Het
Hipk1	T	C	3: 103,761,524	T519A	possibly damaging	Het
Hpd	A	G	5: 123,176,090		probably null	Het
Olfr371	T	A	8: 85,230,771	I92N	probably damaging	Het
Olfr809	A	G	10: 129,776,433	D188G	probably damaging	Het
Pcdha11	A	G	18: 37,007,704		probably benign	Het
Pdgfrb	T	C	18: 61,064,002	I170T	probably benign	Het
Rasgrp1	A	T	2: 117,284,939	F723I	possibly damaging	Het
Retnlg	A	G	16: 48,873,654	T58A	possibly damaging	Het
Rrs1	G	A	1: 9,545,767	E82K	probably damaging	Het
Rtel1	A	G	2: 181,334,939	K243E	probably benign	Het
Slc19a2	G	A	1: 164,263,445	G274D	probably damaging	Het
Slc22a27	T	C	19: 7,909,694		probably null	Het
Slc6a1	T	C	6: 114,311,829	F266L	probably damaging	Het
Snx25	T	G	8: 46,035,715	I868L	probably damaging	Het
Spag16	A	G	1: 69,996,877	I355V	probably benign	Het
Tmem198	A	T	1: 75,479,932		probably benign	Het
Traf3ip3	A	C	1: 193,184,478	S349A	probably damaging	Het
Trim17	A	G	11: 58,971,215	N358D	possibly damaging	Het
Trmu	A	G	15: 85,892,674	T196A	probably damaging	Het
Tsen2	A	G	6: 115,561,435	Y291C	probably damaging	Het
Vps13d	A	G	4: 145,126,471	F2358L	probably benign	Het
Wnt2	T	C	6: 17,989,947	H317R	probably benign	Het
Zfp120	A	T	2: 150,119,929	V33E	probably damaging	Het
Zfp407	C	T	18: 84,559,773	A1072T	probably benign	Het

Other mutations in Abcg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01489:Abcg2	APN	6	58685823	critical splice donor site	probably null
IGL01654:Abcg2	APN	6	58683321	critical splice donor site	probably null
IGL02646:Abcg2	APN	6	58685696	missense	probably benign	0.01
IGL03342:Abcg2	APN	6	58665135	missense	probably damaging	1.00
PIT4519001:Abcg2	UTSW	6	58674807	missense	probably damaging	0.99
R0092:Abcg2	UTSW	6	58685777	missense	probably benign	0.14
R0313:Abcg2	UTSW	6	58672097	missense	probably benign
R0742:Abcg2	UTSW	6	58678326	missense	probably benign	0.00
R1302:Abcg2	UTSW	6	58685817	missense	probably damaging	1.00
R1476:Abcg2	UTSW	6	58678337	missense	probably benign	0.06
R1523:Abcg2	UTSW	6	58685694	missense	possibly damaging	0.96
R2056:Abcg2	UTSW	6	58690540	missense	probably benign	0.20
R2057:Abcg2	UTSW	6	58690540	missense	probably benign	0.20
R2153:Abcg2	UTSW	6	58684322	splice site	probably null
R5636:Abcg2	UTSW	6	58672056	missense	probably damaging	0.98
R5723:Abcg2	UTSW	6	58678351	nonsense	probably null
R5972:Abcg2	UTSW	6	58672085	missense	probably benign	0.00
R6319:Abcg2	UTSW	6	58674738	missense	probably benign	0.03
R6896:Abcg2	UTSW	6	58683313	missense	probably damaging	1.00
R7136:Abcg2	UTSW	6	58684340	missense	possibly damaging	0.67
R7387:Abcg2	UTSW	6	58689624	missense	possibly damaging	0.67
X0028:Abcg2	UTSW	6	58678276	missense	probably benign	0.00

Predicted Primers

Posted On

2014-01-15