Incidental Mutation 'R6896:Abcg2'
ID 538327
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 044990-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6896 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 58561476-58669436 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 58660298 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 454 (L454P)
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: L454P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000031822
Gene: ENSMUSG00000029802
AA Change: L454P

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 damaging
Transcript: ENSMUST00000114294
AA Change: L454P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109933
Gene: ENSMUSG00000029802
AA Change: L454P

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 probably damaging
Transcript: ENSMUST00000143752
AA Change: L454P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000138608
Gene: ENSMUSG00000029802
AA Change: L454P

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
SCOP:d1jj7a_ 33 129 7e-8 SMART
Blast:AAA 71 125 3e-32 BLAST
Meta Mutation Damage Score 0.8020 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency 98% (49/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadm T C 3: 153,641,957 (GRCm39) I192V probably damaging Het
Acadsb T A 7: 131,045,375 (GRCm39) Y436N probably benign Het
Ache G A 5: 137,289,996 (GRCm39) V442M probably damaging Het
Adam39 A T 8: 41,277,975 (GRCm39) N122I possibly damaging Het
Akap6 A T 12: 52,934,277 (GRCm39) I590F probably benign Het
Akap8 T C 17: 32,536,305 (GRCm39) N36S probably benign Het
Asap2 T C 12: 21,315,526 (GRCm39) S933P probably damaging Het
C3 C T 17: 57,527,864 (GRCm39) probably null Het
Cdon T A 9: 35,363,402 (GRCm39) M1K probably null Het
Cemip T A 7: 83,647,784 (GRCm39) I99F probably damaging Het
Cfap251 A G 5: 123,416,421 (GRCm39) T565A possibly damaging Het
Cfap58 T G 19: 47,932,626 (GRCm39) L130R probably damaging Het
Clca3a2 T C 3: 144,514,462 (GRCm39) D415G probably damaging Het
Coch A G 12: 51,649,652 (GRCm39) D321G possibly damaging Het
Dync2i1 C T 12: 116,193,291 (GRCm39) G554R possibly damaging Het
Efcab11 A G 12: 99,849,674 (GRCm39) probably benign Het
Ermap G T 4: 119,044,328 (GRCm39) S156* probably null Het
Fap G T 2: 62,334,944 (GRCm39) Y620* probably null Het
Galntl5 T C 5: 25,394,947 (GRCm39) probably null Het
Il21r C A 7: 125,226,128 (GRCm39) H76N probably damaging Het
Itpr1 T G 6: 108,458,355 (GRCm39) Y2041D probably damaging Het
Megf8 T A 7: 25,029,357 (GRCm39) N300K probably benign Het
Muc2 G A 7: 141,306,432 (GRCm39) V285I possibly damaging Het
Myh15 A T 16: 48,933,434 (GRCm39) Q623L probably benign Het
Myh7b T C 2: 155,464,488 (GRCm39) probably null Het
Naaladl1 T A 19: 6,159,335 (GRCm39) probably null Het
Nlrp9b T G 7: 19,757,170 (GRCm39) F136V probably damaging Het
Oprd1 A T 4: 131,844,612 (GRCm39) M132K probably damaging Het
Or10a3b T C 7: 108,444,750 (GRCm39) T156A probably benign Het
Or4s2b A G 2: 88,508,340 (GRCm39) N47S probably damaging Het
Or6c70 A T 10: 129,710,623 (GRCm39) M1K probably null Het
Or9g4 A G 2: 85,505,277 (GRCm39) Y73H probably damaging Het
Patj T A 4: 98,314,287 (GRCm39) V369D possibly damaging Het
Pcdhb3 T C 18: 37,434,265 (GRCm39) L77P probably damaging Het
Pcf11 T C 7: 92,298,759 (GRCm39) D1259G probably damaging Het
Pdcl A T 2: 37,242,191 (GRCm39) H186Q probably damaging Het
Pdzd9 A T 7: 120,262,095 (GRCm39) *77R probably null Het
Reln C T 5: 22,104,177 (GRCm39) E3265K probably benign Het
Smg8 T C 11: 86,968,787 (GRCm39) T990A possibly damaging Het
Smok2a C T 17: 13,444,758 (GRCm39) H112Y probably benign Het
Spatc1l G A 10: 76,405,242 (GRCm39) R208H probably damaging Het
Taf7 T C 18: 37,775,733 (GRCm39) D278G possibly damaging Het
Vipas39 T C 12: 87,289,345 (GRCm39) N373S probably benign Het
Vmn2r78 C T 7: 86,571,558 (GRCm39) T456I probably benign Het
Vwf T C 6: 125,543,157 (GRCm39) S148P probably damaging Het
Xpot A C 10: 121,449,390 (GRCm39) probably null Het
Zdbf2 A T 1: 63,348,031 (GRCm39) R2137W probably damaging Het
Zfp462 T A 4: 55,009,544 (GRCm39) N503K possibly damaging Het
Zfp641 T A 15: 98,191,684 (GRCm39) M1L 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
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
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'- ACCTATACTGCTAAGCCCCTAGG -3'
(R):5'- GGGACTGCCATTTCTCAATACTG -3'

Sequencing Primer
(F):5'- CCTCTCTGTGTTAACCAGAACAG -3'
(R):5'- GACTGCCATTTCTCAATACTGTAATC -3'
Posted On 2018-11-06