Mutagenetix > Incidental Mutation

Incidental Mutation 'R1302:Abcg2'

158419

Institutional Source

Beutler Lab

Gene Symbol

Abcg2

Ensembl Gene

ENSMUSG00000029802

Gene Name

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

Synonyms

4930430M16Rik, Bcrp

MMRRC Submission

039368-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1302 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58561476-58669436 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58662802 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 548 (M548K)

Ref Sequence

ENSEMBL: ENSMUSP00000138608 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000031822
AA Change: M548K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031822
Gene: ENSMUSG00000029802
AA Change: M548K

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 damaging
Transcript: ENSMUST00000114294
AA Change: M548K

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000109933
Gene: ENSMUSG00000029802
AA Change: M548K

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 damaging
Transcript: ENSMUST00000143752
AA Change: M548K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000138608
Gene: ENSMUSG00000029802
AA Change: M548K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000145685

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

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.3%
20x: 86.2%

Validation Efficiency

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810004N23Rik	A	T	8: 125,566,607 (GRCm39)	I271N	probably damaging	Het
5031439G07Rik	A	G	15: 84,837,477 (GRCm39)	Y279H	probably damaging	Het
Acat1	T	C	9: 53,500,525 (GRCm39)	D257G	possibly damaging	Het
Adamts4	G	A	1: 171,080,752 (GRCm39)	G360R	probably damaging	Het
Akr1c12	T	C	13: 4,322,328 (GRCm39)	D238G	probably damaging	Het
Ankrd1	C	T	19: 36,092,403 (GRCm39)	G275S	probably damaging	Het
Ascc3	T	A	10: 50,480,890 (GRCm39)	M1K	probably null	Het
Atf7ip2	T	C	16: 10,058,472 (GRCm39)	S304P	possibly damaging	Het
Casp4	T	A	9: 5,328,518 (GRCm39)	C333*	probably null	Het
Ccdc68	G	A	18: 70,072,033 (GRCm39)	V37M	probably damaging	Het
Cda	T	A	4: 138,078,502 (GRCm39)	I87F	probably damaging	Het
Chst1	A	T	2: 92,443,864 (GRCm39)	D112V	probably damaging	Het
Chtf18	T	C	17: 25,938,132 (GRCm39)	D967G	probably damaging	Het
Col5a1	A	G	2: 27,895,248 (GRCm39)	R1106G	probably damaging	Het
Coro1b	T	G	19: 4,199,376 (GRCm39)	F12V	probably damaging	Het
Ctif	G	T	18: 75,654,749 (GRCm39)	P259Q	probably benign	Het
Duox1	A	T	2: 122,177,760 (GRCm39)	I1515F	probably benign	Het
Eme2	G	A	17: 25,111,892 (GRCm39)	S263F	probably damaging	Het
Flt1	A	G	5: 147,501,050 (GRCm39)	Y1328H	possibly damaging	Het
Frem2	T	C	3: 53,562,959 (GRCm39)	D516G	probably benign	Het
Gin1	A	T	1: 97,703,314 (GRCm39)	K46*	probably null	Het
Gle1	C	G	2: 29,842,564 (GRCm39)		probably null	Het
Gm11146	T	G	16: 77,398,970 (GRCm39)	I5L	unknown	Het
Gpr153	C	T	4: 152,364,400 (GRCm39)	T152M	probably damaging	Het
H1f8	A	T	6: 115,924,610 (GRCm39)	R39*	probably null	Het
Hdlbp	A	T	1: 93,351,107 (GRCm39)		probably null	Het
Ifi207	A	T	1: 173,562,861 (GRCm39)	L95Q	possibly damaging	Het
Ikzf3	G	T	11: 98,407,746 (GRCm39)	P32T	probably benign	Het
Ints10	T	A	8: 69,279,964 (GRCm39)	V697E	probably damaging	Het
Krt14	A	G	11: 100,094,173 (GRCm39)	S474P	probably damaging	Het
L3mbtl3	T	A	10: 26,203,667 (GRCm39)	I388F	unknown	Het
Ldha	A	C	7: 46,497,063 (GRCm39)	Q7P	probably damaging	Het
Lrwd1	A	G	5: 136,161,267 (GRCm39)	S232P	probably benign	Het
Med1	G	T	11: 98,048,275 (GRCm39)	D840E	possibly damaging	Het
Med23	T	A	10: 24,764,320 (GRCm39)		probably null	Het
Naip5	G	A	13: 100,358,099 (GRCm39)	P1046S	possibly damaging	Het
Ndufa4l2	A	T	10: 127,351,301 (GRCm39)	M31L	probably benign	Het
Nlrp4f	A	G	13: 65,342,371 (GRCm39)	S425P	possibly damaging	Het
Nova1	A	T	12: 46,767,581 (GRCm39)	H113Q	unknown	Het
Npc1	T	C	18: 12,328,142 (GRCm39)	K1056E	probably benign	Het
Nrbp1	A	G	5: 31,407,233 (GRCm39)	H354R	probably benign	Het
Ogfod3	A	G	11: 121,074,300 (GRCm39)	F250L	probably damaging	Het
Pclo	A	G	5: 14,731,647 (GRCm39)	D3383G	unknown	Het
Pde1b	T	A	15: 103,436,026 (GRCm39)	D457E	probably benign	Het
Pkd1	C	G	17: 24,787,210 (GRCm39)	S581R	probably benign	Het
Pno1	T	A	11: 17,154,545 (GRCm39)	Q212L	probably benign	Het
Polr3b	C	T	10: 84,468,350 (GRCm39)	P112L	probably damaging	Het
Pomk	T	A	8: 26,473,102 (GRCm39)	I284F	probably damaging	Het
Rapgef4	A	T	2: 71,875,504 (GRCm39)	D119V	probably benign	Het
Rprm	A	T	2: 53,975,165 (GRCm39)	L51Q	probably benign	Het
Spata31e5	A	T	1: 28,815,421 (GRCm39)	D870E	probably benign	Het
Taok3	A	C	5: 117,337,108 (GRCm39)	S58R	possibly damaging	Het
Tmprss9	T	A	10: 80,730,963 (GRCm39)	S830T	probably benign	Het
Tnfrsf1a	G	A	6: 125,333,879 (GRCm39)	C44Y	probably damaging	Het
Ubr5	A	T	15: 38,041,723 (GRCm39)	D235E	possibly damaging	Het
Vapb	C	A	2: 173,613,330 (GRCm39)	F76L	possibly damaging	Het
Vmn2r72	T	C	7: 85,387,465 (GRCm39)	I700V	probably damaging	Het
Wwc1	G	A	11: 35,734,984 (GRCm39)	R964W	probably damaging	Het
Zfp644	A	T	5: 106,782,765 (GRCm39)	V1203D	probably damaging	Het

Other mutations in Abcg2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01489:Abcg2	APN	6	58,662,808 (GRCm39)	critical splice donor site	probably null
IGL01654:Abcg2	APN	6	58,660,306 (GRCm39)	critical splice donor site	probably null
IGL02646:Abcg2	APN	6	58,662,681 (GRCm39)	missense	probably benign	0.01
IGL03342:Abcg2	APN	6	58,642,120 (GRCm39)	missense	probably damaging	1.00
PIT4519001:Abcg2	UTSW	6	58,651,792 (GRCm39)	missense	probably damaging	0.99
R0092:Abcg2	UTSW	6	58,662,762 (GRCm39)	missense	probably benign	0.14
R0313:Abcg2	UTSW	6	58,649,082 (GRCm39)	missense	probably benign
R0742:Abcg2	UTSW	6	58,655,311 (GRCm39)	missense	probably benign	0.00
R1165:Abcg2	UTSW	6	58,655,285 (GRCm39)	missense	probably benign	0.21
R1476:Abcg2	UTSW	6	58,655,322 (GRCm39)	missense	probably benign	0.06
R1523:Abcg2	UTSW	6	58,662,679 (GRCm39)	missense	possibly damaging	0.96
R2056:Abcg2	UTSW	6	58,667,525 (GRCm39)	missense	probably benign	0.20
R2057:Abcg2	UTSW	6	58,667,525 (GRCm39)	missense	probably benign	0.20
R2153:Abcg2	UTSW	6	58,661,307 (GRCm39)	splice site	probably null
R5636:Abcg2	UTSW	6	58,649,041 (GRCm39)	missense	probably damaging	0.98
R5723:Abcg2	UTSW	6	58,655,336 (GRCm39)	nonsense	probably null
R5972:Abcg2	UTSW	6	58,649,070 (GRCm39)	missense	probably benign	0.00
R6319:Abcg2	UTSW	6	58,651,723 (GRCm39)	missense	probably benign	0.03
R6896:Abcg2	UTSW	6	58,660,298 (GRCm39)	missense	probably damaging	1.00
R7136:Abcg2	UTSW	6	58,661,325 (GRCm39)	missense	possibly damaging	0.67
R7387:Abcg2	UTSW	6	58,666,609 (GRCm39)	missense	possibly damaging	0.67
R8208:Abcg2	UTSW	6	58,642,227 (GRCm39)	missense	possibly damaging	0.68
R8414:Abcg2	UTSW	6	58,646,221 (GRCm39)	missense	probably benign	0.40
R8552:Abcg2	UTSW	6	58,646,210 (GRCm39)	missense	possibly damaging	0.94
R8919:Abcg2	UTSW	6	58,661,326 (GRCm39)	missense	probably benign	0.08
R9789:Abcg2	UTSW	6	58,641,533 (GRCm39)	missense	probably damaging	1.00
X0028:Abcg2	UTSW	6	58,655,261 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGTGGCACTGACAACCCCTTTTC -3'
(R):5'- ACTAGGTGCAGTGGTTTCAATGGC -3'

Sequencing Primer
(F):5'- TCTTTCCAAGGACTGAAGAAGAC -3'
(R):5'- acagacacacaccacatacc -3'

Posted On

2014-02-18