Mutagenetix > Incidental Mutation

Incidental Mutation 'R2056:Abcg2'

228183

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

040061-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2056 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58561476-58669436 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58667525 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 129 (V129A)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000031822
AA Change: Y583H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000031822
Gene: ENSMUSG00000029802
AA Change: Y583H

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: Y583H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000109933
Gene: ENSMUSG00000029802
AA Change: Y583H

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
AA Change: V129A

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

Predicted Effect

unknown
Transcript: ENSMUST00000203146
AA Change: Y159H

SMART Domains

Protein: ENSMUSP00000145435
Gene: ENSMUSG00000029802
AA Change: Y159H

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh1	A	G	3: 137,992,676 (GRCm39)	D264G	probably damaging	Het
Ahnak2	T	A	12: 112,748,626 (GRCm39)	D407V	probably benign	Het
Alas1	T	C	9: 106,118,489 (GRCm39)	E211G	probably damaging	Het
Alkbh1	C	T	12: 87,490,520 (GRCm39)		probably benign	Het
Ankmy1	T	C	1: 92,809,553 (GRCm39)	I662V	possibly damaging	Het
Ano1	A	G	7: 144,201,789 (GRCm39)	V334A	probably damaging	Het
Apc	A	G	18: 34,449,481 (GRCm39)	R2092G	probably damaging	Het
Arhgap18	C	T	10: 26,730,904 (GRCm39)	T122I	probably benign	Het
Atp2b4	G	T	1: 133,654,275 (GRCm39)	Q777K	probably benign	Het
Brap	G	A	5: 121,801,529 (GRCm39)	G95S	probably damaging	Het
Cbfa2t2	G	A	2: 154,377,077 (GRCm39)	A587T	probably damaging	Het
Ccdc180	A	G	4: 45,932,477 (GRCm39)	I1308V	probably benign	Het
Ccser1	T	A	6: 61,399,936 (GRCm39)		probably null	Het
Cd84	A	G	1: 171,700,317 (GRCm39)	T145A	possibly damaging	Het
Cmtm4	A	C	8: 105,081,920 (GRCm39)	F156V	probably damaging	Het
Cntln	G	A	4: 84,967,911 (GRCm39)	R710K	probably benign	Het
Csn1s1	A	T	5: 87,819,387 (GRCm39)	T15S	possibly damaging	Het
Cul9	T	C	17: 46,854,298 (GRCm39)	T135A	probably benign	Het
Cyp2d10	T	A	15: 82,288,015 (GRCm39)	I363F	probably damaging	Het
Dhx38	G	T	8: 110,289,352 (GRCm39)		probably benign	Het
Dis3	A	T	14: 99,336,251 (GRCm39)	I85N	possibly damaging	Het
Dmbt1	G	A	7: 130,707,900 (GRCm39)	A1381T	possibly damaging	Het
Dscaml1	A	G	9: 45,661,430 (GRCm39)	D1776G	probably damaging	Het
Erbin	A	G	13: 103,966,824 (GRCm39)	S1209P	probably benign	Het
Fat4	T	A	3: 38,945,319 (GRCm39)	M1404K	possibly damaging	Het
Fbxo45	G	T	16: 32,057,346 (GRCm39)	Q183K	possibly damaging	Het
Frmd4b	C	T	6: 97,389,448 (GRCm39)		probably null	Het
Fzd7	A	G	1: 59,523,361 (GRCm39)	S415G	probably benign	Het
Gpd2	T	A	2: 57,229,025 (GRCm39)		probably null	Het
Gsk3b	T	A	16: 38,008,271 (GRCm39)	D192E	probably benign	Het
Gstcd	T	C	3: 132,787,814 (GRCm39)	I295V	probably benign	Het
Gucy1a1	A	G	3: 82,016,592 (GRCm39)	L132P	possibly damaging	Het
Il12b	A	C	11: 44,298,727 (GRCm39)	T61P	probably damaging	Het
Il7	A	T	3: 7,638,975 (GRCm39)	N130K	probably damaging	Het
Itih3	A	C	14: 30,631,481 (GRCm39)		probably null	Het
Kdm5b	T	A	1: 134,540,952 (GRCm39)	D681E	probably benign	Het
Kif11	A	G	19: 37,390,660 (GRCm39)	N408D	probably benign	Het
Kng2	TATGACCATGACCATGACCATGACCATGACCATGACCAT	TATGACCATGACCATGACCATGACCATGACCAT	16: 22,806,703 (GRCm39)		probably benign	Het
Kremen2	T	C	17: 23,961,691 (GRCm39)	E272G	possibly damaging	Het
Krt9	G	T	11: 100,082,321 (GRCm39)	N201K	probably damaging	Het
Lmbr1	G	A	5: 29,438,092 (GRCm39)	P304L	probably benign	Het
Lrrfip1	A	G	1: 91,043,539 (GRCm39)	N648S	probably benign	Het
Mab21l3	C	A	3: 101,722,469 (GRCm39)	V386L	possibly damaging	Het
Mamdc4	T	C	2: 25,454,180 (GRCm39)	Q1149R	probably benign	Het
Mast1	A	G	8: 85,646,995 (GRCm39)	F677L	possibly damaging	Het
Mcoln3	A	G	3: 145,833,979 (GRCm39)	D173G	probably benign	Het
Mmrn1	C	T	6: 60,921,789 (GRCm39)	T82I	probably benign	Het
Mtcl2	C	T	2: 156,864,747 (GRCm39)	G1154S	probably benign	Het
Muc5ac	A	G	7: 141,345,772 (GRCm39)	T203A	probably benign	Het
Myo9b	T	C	8: 71,812,334 (GRCm39)	I2035T	possibly damaging	Het
Ndst3	T	C	3: 123,465,534 (GRCm39)	N146S	probably damaging	Het
Neu4	A	G	1: 93,950,172 (GRCm39)	T21A	possibly damaging	Het
Nos1ap	G	A	1: 170,155,215 (GRCm39)	L267F	probably damaging	Het
Or14c40	A	T	7: 86,313,591 (GRCm39)	K240N	probably damaging	Het
Or3a4	A	T	11: 73,944,819 (GRCm39)	Y255*	probably null	Het
Or4p8	A	G	2: 88,727,105 (GRCm39)	F279L	probably damaging	Het
Phc1	T	C	6: 122,310,299 (GRCm39)	N136S	probably damaging	Het
Prkdc	A	G	16: 15,545,469 (GRCm39)	T1862A	probably benign	Het
Psd2	A	G	18: 36,139,744 (GRCm39)	D596G	possibly damaging	Het
Psmc3	T	C	2: 90,888,433 (GRCm39)	F315L	probably benign	Het
Rerg	G	A	6: 137,034,878 (GRCm39)	T42I	probably benign	Het
Rif1	T	A	2: 51,983,588 (GRCm39)	M577K	probably damaging	Het
Sap30	T	C	8: 57,940,282 (GRCm39)		probably null	Het
Scn2b	T	C	9: 45,036,815 (GRCm39)	Y108H	probably damaging	Het
Senp2	C	T	16: 21,832,949 (GRCm39)	T79I	probably damaging	Het
Serpinb2	T	C	1: 107,451,543 (GRCm39)	V232A	probably damaging	Het
Sgpp2	T	A	1: 78,393,588 (GRCm39)	L197Q	probably damaging	Het
Slc27a4	T	C	2: 29,700,953 (GRCm39)	W320R	probably damaging	Het
Spmip4	T	C	6: 50,550,725 (GRCm39)	R575G	possibly damaging	Het
Tgm4	T	C	9: 122,890,835 (GRCm39)	I54T	probably damaging	Het
Thbs4	T	A	13: 92,927,387 (GRCm39)	D34V	probably benign	Het
Tlcd4	T	G	3: 121,001,070 (GRCm39)	I188L	probably benign	Het
Tmem176b	G	A	6: 48,813,267 (GRCm39)	T64I	probably damaging	Het
Tmod2	T	C	9: 75,484,524 (GRCm39)	E248G	probably benign	Het
Ttc6	T	A	12: 57,784,479 (GRCm39)	D1849E	probably benign	Het
Ttn	T	C	2: 76,615,882 (GRCm39)	D8360G	possibly damaging	Het
Unc80	A	G	1: 66,679,711 (GRCm39)	E2094G	possibly damaging	Het
Vmn2r18	A	T	5: 151,508,160 (GRCm39)	D321E	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
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
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'- TGGCCAATTGGAAGCAACATC -3'
(R):5'- AGTTTGACTCATCCCACCTCTAAG -3'

Sequencing Primer
(F):5'- AACCCTAAGTTTCTTGATTTCCAGGG -3'
(R):5'- CCTCTAAGTGCAGCAACTATTTACAG -3'

Posted On

2014-09-17