Mutagenetix > Incidental Mutation

Incidental Mutation 'R7387:Abcg2'

573167

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

045469-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7387 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58561476-58669436 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58666609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 573 (I573F)

Ref Sequence

ENSEMBL: ENSMUSP00000031822 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031822
AA Change: I573F

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031822
Gene: ENSMUSG00000029802
AA Change: I573F

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

possibly damaging
Transcript: ENSMUST00000114294
AA Change: I573F

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000109933
Gene: ENSMUSG00000029802
AA Change: I573F

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

probably benign
Transcript: ENSMUST00000143752

SMART Domains

Protein: ENSMUSP00000138608
Gene: ENSMUSG00000029802

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
AA Change: I149F

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145435
Gene: ENSMUSG00000029802
AA Change: I149F

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	A	G	4: 109,362,774 (GRCm39)	Y182H	probably damaging	Het
Abca6	A	G	11: 110,093,246 (GRCm39)	V1009A	probably benign	Het
Adck1	A	G	12: 88,427,822 (GRCm39)	T480A	probably benign	Het
Adcy5	T	C	16: 35,092,460 (GRCm39)	I607T	probably damaging	Het
Add2	A	G	6: 86,062,997 (GRCm39)	K52E	probably damaging	Het
Arid4a	T	A	12: 71,134,270 (GRCm39)	S1191T	probably damaging	Het
Atg2a	G	T	19: 6,305,198 (GRCm39)	C1207F	possibly damaging	Het
Atg2b	T	C	12: 105,589,034 (GRCm39)	D1875G	probably damaging	Het
B3gntl1	A	G	11: 121,520,741 (GRCm39)	L224P	possibly damaging	Het
BC035947	A	G	1: 78,475,098 (GRCm39)	V478A	possibly damaging	Het
Cachd1	T	C	4: 100,634,375 (GRCm39)	V17A	unknown	Het
Cad	T	C	5: 31,219,284 (GRCm39)	Y669H	probably damaging	Het
Ccdc110	A	T	8: 46,395,233 (GRCm39)	M375L	probably benign	Het
Cdc6	C	T	11: 98,799,042 (GRCm39)		probably benign	Het
Cdhr4	T	A	9: 107,874,111 (GRCm39)	Y72*	probably null	Het
Cenpe	T	G	3: 134,952,798 (GRCm39)	M1496R	probably benign	Het
Clec4a1	T	G	6: 122,899,016 (GRCm39)	C28W	possibly damaging	Het
Cma2	A	G	14: 56,210,505 (GRCm39)	N120S	probably benign	Het
Cped1	A	T	6: 22,059,933 (GRCm39)	I200L	probably benign	Het
Cpsf1	A	T	15: 76,486,766 (GRCm39)	S257T	possibly damaging	Het
Dnah6	G	A	6: 73,189,595 (GRCm39)	Q18*	probably null	Het
Dpp10	T	C	1: 123,268,869 (GRCm39)	E720G	probably benign	Het
Dus2	G	A	8: 106,772,619 (GRCm39)	R243Q	probably damaging	Het
Dync2h1	T	C	9: 7,157,932 (GRCm39)	N769S	possibly damaging	Het
Ece1	T	A	4: 137,666,095 (GRCm39)	I313N	possibly damaging	Het
Ern1	A	T	11: 106,312,778 (GRCm39)	V201E	probably damaging	Het
Exoc3l	A	G	8: 106,021,605 (GRCm39)	L141P	probably damaging	Het
Fam168b	G	A	1: 34,858,789 (GRCm39)	T131M	probably damaging	Het
Fez1	T	C	9: 36,779,108 (GRCm39)	F262L	probably damaging	Het
H2-DMa	T	C	17: 34,357,101 (GRCm39)	Y200H	probably damaging	Het
H2-Eb1	T	A	17: 34,533,207 (GRCm39)	V143D	probably damaging	Het
Ighv1-39	G	A	12: 114,878,488 (GRCm39)	P28S	probably benign	Het
Inka1	C	T	9: 107,861,626 (GRCm39)	R230H	probably damaging	Het
Iqgap1	C	T	7: 80,370,738 (GRCm39)	V1544I	probably benign	Het
Itga10	A	T	3: 96,560,094 (GRCm39)	Q536L	probably benign	Het
Itih2	C	T	2: 10,135,319 (GRCm39)	E24K	possibly damaging	Het
Itsn2	A	T	12: 4,689,781 (GRCm39)	N618I	probably damaging	Het
Kcnd2	T	A	6: 21,216,777 (GRCm39)	S160R	probably benign	Het
Kif11	T	A	19: 37,398,204 (GRCm39)	F677I	probably damaging	Het
Ldlrad2	C	T	4: 137,301,828 (GRCm39)	C18Y	probably damaging	Het
Lrp4	T	C	2: 91,306,959 (GRCm39)	V360A	probably benign	Het
Lrrtm2	T	C	18: 35,346,025 (GRCm39)	T426A	probably damaging	Het
Mcidas	T	C	13: 113,130,622 (GRCm39)	F40L	probably benign	Het
Med27	T	A	2: 29,303,419 (GRCm39)	L123Q	possibly damaging	Het
Mettl2	T	C	11: 105,023,364 (GRCm39)	V249A	probably benign	Het
Mllt6	C	A	11: 97,565,426 (GRCm39)	A592D	probably benign	Het
Mrps5	C	T	2: 127,442,804 (GRCm39)	T291I	probably damaging	Het
Muc16	T	A	9: 18,553,016 (GRCm39)	T4426S	probably benign	Het
Myh1	A	T	11: 67,099,715 (GRCm39)	M542L	probably benign	Het
Nlrp12	G	T	7: 3,289,831 (GRCm39)	A227D	probably damaging	Het
Nlrp14	T	C	7: 106,782,314 (GRCm39)	Y504H	probably damaging	Het
Nr1i2	T	C	16: 38,086,442 (GRCm39)	S8G	probably benign	Het
Ntrk2	A	G	13: 59,133,793 (GRCm39)	K524R	probably damaging	Het
Nup210	C	T	6: 90,998,378 (GRCm39)		probably null	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or4c100	T	A	2: 88,356,744 (GRCm39)	Y272*	probably null	Het
Or52e4	T	A	7: 104,706,297 (GRCm39)	Y281*	probably null	Het
Or5h27	A	T	16: 59,006,699 (GRCm39)	I49N	probably damaging	Het
Patl1	A	G	19: 11,911,094 (GRCm39)	I525M	probably benign	Het
Pcnx3	A	G	19: 5,723,364 (GRCm39)	L1277P	probably benign	Het
Pelp1	G	A	11: 70,287,425 (GRCm39)	T461I	probably damaging	Het
Phf20	T	C	2: 156,136,160 (GRCm39)	C660R	probably damaging	Het
Pkd1l1	T	A	11: 8,851,203 (GRCm39)	Y1193F		Het
Pknox2	G	T	9: 36,868,364 (GRCm39)		probably benign	Het
Pml	T	C	9: 58,137,177 (GRCm39)	T541A	probably benign	Het
Prss35	C	T	9: 86,637,974 (GRCm39)	T248I	probably damaging	Het
Rccd1	T	A	7: 79,970,350 (GRCm39)	N89I	probably benign	Het
Rcor3	T	C	1: 191,821,824 (GRCm39)		probably benign	Het
Rreb1	A	G	13: 38,131,040 (GRCm39)	E16G	unknown	Het
Scgb2b12	T	A	7: 32,026,060 (GRCm39)	H44L	probably benign	Het
Sec23ip	C	T	7: 128,346,727 (GRCm39)		probably benign	Het
Sgsm1	A	C	5: 113,411,566 (GRCm39)	F720C	probably damaging	Het
Slc25a51	A	T	4: 45,399,841 (GRCm39)	F116L	possibly damaging	Het
Spats2l	T	C	1: 57,941,293 (GRCm39)	V253A	probably damaging	Het
Spopl	A	T	2: 23,427,521 (GRCm39)	F204I	probably benign	Het
Sqle	G	A	15: 59,202,603 (GRCm39)	R519Q	probably benign	Het
Stil	T	G	4: 114,881,233 (GRCm39)	H592Q	probably benign	Het
Strip1	T	A	3: 107,533,046 (GRCm39)	S201C	probably damaging	Het
Tcp11l1	C	A	2: 104,530,275 (GRCm39)	A70S	possibly damaging	Het
Tmem163	T	C	1: 127,447,180 (GRCm39)		probably null	Het
Tmem184c	A	T	8: 78,324,559 (GRCm39)	Y310*	probably null	Het
Tmem30c	T	C	16: 57,090,386 (GRCm39)	N274D	probably benign	Het
Trim30c	T	A	7: 104,039,397 (GRCm39)	I133F	probably damaging	Het
Vars1	C	T	17: 35,223,768 (GRCm39)	Q228*	probably null	Het
Zdbf2	G	A	1: 63,343,198 (GRCm39)	V526I	possibly damaging	Het
Zfp819	T	G	7: 43,262,065 (GRCm39)		probably null	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
R1302:Abcg2	UTSW	6	58,662,802 (GRCm39)	missense	probably damaging	1.00
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
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'- ACCAGGTGCAGGTTATTTGAGG -3'
(R):5'- CTCTCCAGTAACAAAGACTAGTAGG -3'

Sequencing Primer
(F):5'- AGGTAGTCATGCCCAGTAGTC -3'
(R):5'- GGAAATTATCATCCACTGTTCCTGG -3'

Posted On

2019-09-13