Incidental Mutation 'R1165:Abcg2'
ID 100928
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 039238-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1165 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 58561476-58669436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 58655285 bp (GRCm39)
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]
AlphaFold no structure available at present
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1jj7a_ 33 129 7e-8 SMART
Blast:AAA 71 125 3e-32 BLAST
Meta Mutation Damage Score 0.0898 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T G 13: 77,482,406 (GRCm39) C1209G probably benign Het
Adtrp A G 13: 41,967,779 (GRCm39) V56A probably damaging Het
Angptl6 T G 9: 20,789,604 (GRCm39) N96T probably benign Het
Ank3 C A 10: 69,734,132 (GRCm39) N780K possibly damaging Het
AU040320 A T 4: 126,717,433 (GRCm39) probably benign Het
Best2 C T 8: 85,737,789 (GRCm39) R202H probably benign Het
Bod1l A T 5: 41,978,396 (GRCm39) S973T probably benign Het
Brca2 T A 5: 150,466,212 (GRCm39) V1992E probably damaging Het
Casp8ap2 C T 4: 32,640,563 (GRCm39) P539L probably benign Het
Ccr1 A T 9: 123,763,531 (GRCm39) V333E possibly damaging Het
Celf5 A T 10: 81,307,172 (GRCm39) V83E probably damaging Het
Col15a1 T C 4: 47,257,275 (GRCm39) probably benign Het
Coro1b C A 19: 4,199,901 (GRCm39) H81N probably damaging Het
Cwc22 A T 2: 77,734,242 (GRCm39) S686T probably damaging Het
Cyp2d26 C A 15: 82,678,242 (GRCm39) G45W probably damaging Het
Dysf T A 6: 84,044,051 (GRCm39) N297K probably damaging Het
Edem1 T A 6: 108,828,214 (GRCm39) L513Q probably damaging Het
Erich1 G A 8: 14,140,530 (GRCm39) probably benign Het
Fam91a1 T C 15: 58,302,518 (GRCm39) V286A possibly damaging Het
Fdxr C A 11: 115,162,608 (GRCm39) probably benign Het
Gas7 T C 11: 67,561,512 (GRCm39) probably benign Het
Glb1l2 T C 9: 26,705,397 (GRCm39) D151G probably damaging Het
Gm14410 A C 2: 176,885,282 (GRCm39) Y327* probably null Het
Grep1 A C 17: 23,929,489 (GRCm39) probably benign Het
H6pd A G 4: 150,080,413 (GRCm39) I136T possibly damaging Het
Hectd1 A T 12: 51,810,947 (GRCm39) probably benign Het
Hipk1 T C 3: 103,668,840 (GRCm39) T519A possibly damaging Het
Hpd A G 5: 123,314,153 (GRCm39) probably null Het
Insyn2b A G 11: 34,352,740 (GRCm39) T261A probably benign Het
Or6c76 A G 10: 129,612,302 (GRCm39) D188G probably damaging Het
Or7c19 T A 8: 85,957,400 (GRCm39) I92N probably damaging Het
Pcdha11 A G 18: 37,140,757 (GRCm39) probably benign Het
Pdgfrb T C 18: 61,197,074 (GRCm39) I170T probably benign Het
Rasgrp1 A T 2: 117,115,420 (GRCm39) F723I possibly damaging Het
Retnlg A G 16: 48,694,017 (GRCm39) T58A possibly damaging Het
Rrs1 G A 1: 9,615,992 (GRCm39) E82K probably damaging Het
Rtel1 A G 2: 180,976,732 (GRCm39) K243E probably benign Het
Slc19a2 G A 1: 164,091,014 (GRCm39) G274D probably damaging Het
Slc22a27 T C 19: 7,887,059 (GRCm39) probably null Het
Slc6a1 T C 6: 114,288,790 (GRCm39) F266L probably damaging Het
Snx25 T G 8: 46,488,752 (GRCm39) I868L probably damaging Het
Spag16 A G 1: 70,036,036 (GRCm39) I355V probably benign Het
Tmem198 A T 1: 75,456,576 (GRCm39) probably benign Het
Traf3ip3 A C 1: 192,866,786 (GRCm39) S349A probably damaging Het
Trim17 A G 11: 58,862,041 (GRCm39) N358D possibly damaging Het
Trmu A G 15: 85,776,875 (GRCm39) T196A probably damaging Het
Tsen2 A G 6: 115,538,396 (GRCm39) Y291C probably damaging Het
Vps13d A G 4: 144,853,041 (GRCm39) F2358L probably benign Het
Wnt2 T C 6: 17,989,946 (GRCm39) H317R probably benign Het
Zfp120 A T 2: 149,961,849 (GRCm39) V33E probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T probably benign Het
Other mutations in Abcg2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Posted On 2014-01-15