Incidental Mutation 'R5723:Abcg2'
ID |
452316 |
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 |
043341-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5723 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58561476-58669436 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 58655336 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 109
(Q109*)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031822]
[ENSMUST00000114294]
[ENSMUST00000143752]
[ENSMUST00000203146]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably null
Transcript: ENSMUST00000031822
AA Change: Q424*
|
SMART Domains |
Protein: ENSMUSP00000031822 Gene: ENSMUSG00000029802 AA Change: Q424*
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 null
Transcript: ENSMUST00000114294
AA Change: Q424*
|
SMART Domains |
Protein: ENSMUSP00000109933 Gene: ENSMUSG00000029802 AA Change: Q424*
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 null
Transcript: ENSMUST00000143752
AA Change: Q424*
|
SMART Domains |
Protein: ENSMUSP00000138608 Gene: ENSMUSG00000029802 AA Change: Q424*
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 null
Transcript: ENSMUST00000145685
AA Change: Q109*
|
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 |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
98% (57/58) |
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: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
C |
11: 109,844,445 (GRCm39) |
D862G |
possibly damaging |
Het |
Acbd7 |
A |
G |
2: 3,341,455 (GRCm39) |
Y33C |
probably damaging |
Het |
Actl7a |
A |
G |
4: 56,744,310 (GRCm39) |
D279G |
probably damaging |
Het |
Akr1c18 |
A |
T |
13: 4,194,328 (GRCm39) |
Y110* |
probably null |
Het |
Akt1 |
T |
C |
12: 112,623,704 (GRCm39) |
K276E |
probably damaging |
Het |
Bcas2 |
A |
G |
3: 103,084,608 (GRCm39) |
|
probably benign |
Het |
C9 |
T |
A |
15: 6,516,297 (GRCm39) |
Y367N |
probably damaging |
Het |
Cd163 |
A |
G |
6: 124,296,022 (GRCm39) |
T789A |
probably benign |
Het |
Cers6 |
T |
A |
2: 68,938,789 (GRCm39) |
S344T |
probably benign |
Het |
Clcn4 |
A |
G |
7: 7,294,681 (GRCm39) |
V329A |
probably damaging |
Het |
Crisp3 |
A |
C |
17: 40,546,804 (GRCm39) |
V38G |
probably damaging |
Het |
Cyp2b23 |
A |
G |
7: 26,380,821 (GRCm39) |
F135L |
probably benign |
Het |
Cyrib |
A |
T |
15: 63,828,447 (GRCm39) |
|
probably null |
Het |
Ddr2 |
A |
T |
1: 169,816,089 (GRCm39) |
C539* |
probably null |
Het |
Efna5 |
T |
A |
17: 62,914,458 (GRCm39) |
D189V |
probably damaging |
Het |
Endov |
G |
T |
11: 119,390,675 (GRCm39) |
V70F |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
Frem3 |
A |
T |
8: 81,340,026 (GRCm39) |
H773L |
probably benign |
Het |
Gm43302 |
T |
A |
5: 105,365,352 (GRCm39) |
Q552L |
possibly damaging |
Het |
Gramd1a |
A |
T |
7: 30,833,908 (GRCm39) |
W506R |
probably damaging |
Het |
Hmcn1 |
C |
T |
1: 150,570,600 (GRCm39) |
V2188I |
possibly damaging |
Het |
Ifit1bl2 |
A |
G |
19: 34,597,458 (GRCm39) |
F53L |
probably benign |
Het |
Kat8 |
G |
A |
7: 127,523,988 (GRCm39) |
E343K |
probably damaging |
Het |
Kif5a |
GGGTTGGT |
GGGT |
10: 127,066,898 (GRCm39) |
|
probably null |
Het |
Krt16 |
A |
G |
11: 100,139,272 (GRCm39) |
Y149H |
probably damaging |
Het |
Krtap5-2 |
A |
T |
7: 141,728,742 (GRCm39) |
C313S |
unknown |
Het |
Mreg |
A |
G |
1: 72,201,527 (GRCm39) |
I155T |
probably damaging |
Het |
Nans |
T |
C |
4: 46,499,083 (GRCm39) |
F130S |
probably benign |
Het |
Nox4 |
T |
C |
7: 86,954,181 (GRCm39) |
|
probably benign |
Het |
Or3a1d |
C |
A |
11: 74,237,954 (GRCm39) |
W32L |
possibly damaging |
Het |
Or52ad1 |
A |
T |
7: 102,995,826 (GRCm39) |
M103K |
possibly damaging |
Het |
Or56a3 |
C |
A |
7: 104,740,309 (GRCm39) |
C179F |
probably damaging |
Het |
Or5k15 |
A |
T |
16: 58,709,976 (GRCm39) |
Y202* |
probably null |
Het |
Pgap6 |
CGGGG |
CGGGGG |
17: 26,339,536 (GRCm39) |
|
probably null |
Het |
Pkd1 |
A |
G |
17: 24,784,497 (GRCm39) |
T348A |
probably benign |
Het |
Poteg |
T |
C |
8: 27,940,020 (GRCm39) |
|
probably null |
Het |
Prom1 |
T |
G |
5: 44,172,236 (GRCm39) |
N585T |
probably benign |
Het |
Rfc1 |
T |
C |
5: 65,434,769 (GRCm39) |
S666G |
probably null |
Het |
Rilp |
A |
G |
11: 75,403,687 (GRCm39) |
|
probably benign |
Het |
Serpina3i |
A |
G |
12: 104,231,759 (GRCm39) |
E132G |
probably benign |
Het |
Serpina3m |
T |
C |
12: 104,360,170 (GRCm39) |
V414A |
probably damaging |
Het |
Sfrp4 |
T |
C |
13: 19,807,868 (GRCm39) |
F89S |
probably damaging |
Het |
Stat5a |
A |
G |
11: 100,772,900 (GRCm39) |
H692R |
probably benign |
Het |
Tex29 |
A |
T |
8: 11,904,279 (GRCm39) |
|
probably benign |
Het |
Tmc5 |
T |
A |
7: 118,271,416 (GRCm39) |
F910I |
probably damaging |
Het |
Tusc3 |
G |
A |
8: 39,538,651 (GRCm39) |
G230D |
possibly damaging |
Het |
Ubqln3 |
G |
A |
7: 103,790,674 (GRCm39) |
P472L |
probably benign |
Het |
Upb1 |
A |
T |
10: 75,264,105 (GRCm39) |
I184F |
probably damaging |
Het |
Vamp4 |
T |
C |
1: 162,401,932 (GRCm39) |
F5L |
possibly damaging |
Het |
Zfp583 |
C |
A |
7: 6,326,674 (GRCm39) |
Q68H |
probably damaging |
Het |
Zfp831 |
A |
C |
2: 174,487,200 (GRCm39) |
H625P |
probably benign |
Het |
Zfp941 |
G |
A |
7: 140,392,763 (GRCm39) |
|
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 |
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'- CAGGAACCAATTGTAACCTACTG -3'
(R):5'- TGCCAGTTTTCAAGTTCCGAC -3'
Sequencing Primer
(F):5'- ACCTCTAATGGACATTCTTTCT -3'
(R):5'- AAAGACTTGCCTTGGCCATG -3'
|
Posted On |
2017-01-03 |