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)
|
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
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: L407I
PolyPhen 2
Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000109933 Gene: ENSMUSG00000029802 AA Change: L407I
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 |
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
SCOP:d1jj7a_
|
33 |
129 |
7e-8 |
SMART |
Blast:AAA
|
71 |
125 |
3e-32 |
BLAST |
|
Meta Mutation Damage Score |
0.0898 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |