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)
|
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
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: L454P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109933 Gene: ENSMUSG00000029802 AA Change: L454P
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 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
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 |
|
Meta Mutation Damage Score |
0.8020 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |