Incidental Mutation 'R0742:Abcg2'
| ID |
70725 |
| 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 |
038923-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0742 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
58561476-58669436 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58655311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 415
(D415E)
|
| 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: D415E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000031822
Gene: ENSMUSG00000029802
AA Change: D415E
| 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: D415E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000109933
Gene: ENSMUSG00000029802
AA Change: D415E
| 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: D415E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000138608
Gene: ENSMUSG00000029802
AA Change: D415E
| 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: D100E
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 94.8%
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aff3 |
A |
G |
1: 38,666,189 (GRCm39) |
W12R |
probably damaging |
Het |
| Aldh3b2 |
G |
A |
19: 4,031,034 (GRCm39) |
G428S |
probably damaging |
Het |
| Arhgef10l |
A |
G |
4: 140,264,156 (GRCm39) |
L736P |
probably damaging |
Het |
| Baz2a |
G |
T |
10: 127,949,535 (GRCm39) |
E374* |
probably null |
Het |
| Casd1 |
T |
C |
6: 4,635,888 (GRCm39) |
|
probably null |
Het |
| Cct2 |
A |
T |
10: 116,891,151 (GRCm39) |
|
probably null |
Het |
| Cdc42bpg |
G |
A |
19: 6,368,605 (GRCm39) |
|
probably null |
Het |
| Copg2 |
T |
C |
6: 30,840,548 (GRCm39) |
|
probably null |
Het |
| Fbxw15 |
C |
T |
9: 109,384,624 (GRCm39) |
|
probably null |
Het |
| Fyb1 |
A |
G |
15: 6,664,297 (GRCm39) |
D460G |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lyz1 |
A |
T |
10: 117,125,022 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
A |
T |
1: 136,118,718 (GRCm39) |
I533N |
probably damaging |
Het |
| Otogl |
A |
G |
10: 107,702,601 (GRCm39) |
V684A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,457,129 (GRCm39) |
D1302G |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,056,983 (GRCm39) |
I4183N |
probably damaging |
Het |
| Rpe |
C |
T |
1: 66,754,300 (GRCm39) |
T124I |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,185,875 (GRCm39) |
I514T |
probably benign |
Het |
| Scap |
T |
A |
9: 110,210,327 (GRCm39) |
L912Q |
probably damaging |
Het |
| Sec61a2 |
T |
C |
2: 5,881,359 (GRCm39) |
D264G |
probably benign |
Het |
| Slc4a3 |
T |
A |
1: 75,532,725 (GRCm39) |
I995K |
probably damaging |
Het |
| Sptbn2 |
T |
C |
19: 4,769,011 (GRCm39) |
I48T |
possibly damaging |
Het |
| Steap3 |
C |
T |
1: 120,169,313 (GRCm39) |
R328H |
possibly damaging |
Het |
| Thoc2l |
G |
A |
5: 104,670,020 (GRCm39) |
S1514N |
probably benign |
Het |
| Tmprss13 |
T |
C |
9: 45,243,765 (GRCm39) |
F167S |
probably damaging |
Het |
| Ttc3 |
G |
A |
16: 94,260,739 (GRCm39) |
C1408Y |
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,483,411 (GRCm39) |
M99T |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,052 (GRCm39) |
N886S |
possibly damaging |
Het |
| Vmn2r12 |
T |
A |
5: 109,234,281 (GRCm39) |
T644S |
possibly damaging |
Het |
| Vps13b |
A |
G |
15: 35,794,507 (GRCm39) |
S2306G |
probably benign |
Het |
| Xpo1 |
T |
C |
11: 23,244,682 (GRCm39) |
V1020A |
possibly damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,075,886 (GRCm39) |
N870K |
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 |
|
|
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 |
|
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'- TGGCAGCAAATGCTTTCATTTTCAGC -3'
(R):5'- TGTGTACGAAAACGCCAGCTCTG -3'
Sequencing Primer
(F):5'- TCAGGAACCAATTGTAACCTACTGTC -3'
(R):5'- gcctgaacctctgaacctg -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation