Incidental Mutation 'R5972:Abcg2'
ID |
471462 |
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 |
044155-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5972 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
58561476-58669436 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58649070 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Lysine
at position 305
(M305K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109933
(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: M305K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031822 Gene: ENSMUSG00000029802 AA Change: M305K
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: M305K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000109933 Gene: ENSMUSG00000029802 AA Change: M305K
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 benign
Transcript: ENSMUST00000143752
AA Change: M305K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000138608 Gene: ENSMUSG00000029802 AA Change: M305K
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
Validation Efficiency |
100% (51/51) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
G |
T |
2: 93,669,572 (GRCm39) |
H283N |
probably damaging |
Het |
Actl6b |
A |
T |
5: 137,564,818 (GRCm39) |
H283L |
possibly damaging |
Het |
Adgra1 |
T |
C |
7: 139,425,583 (GRCm39) |
L32P |
probably damaging |
Het |
Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
Arfgef2 |
T |
C |
2: 166,733,756 (GRCm39) |
I1672T |
probably damaging |
Het |
Bambi |
T |
A |
18: 3,512,354 (GRCm39) |
V246E |
probably damaging |
Het |
BC048679 |
A |
G |
7: 81,145,479 (GRCm39) |
L29P |
probably damaging |
Het |
Bmal2 |
A |
G |
6: 146,711,187 (GRCm39) |
M64V |
probably damaging |
Het |
Camk4 |
T |
C |
18: 33,240,979 (GRCm39) |
L92P |
probably damaging |
Het |
Ddx11 |
C |
A |
17: 66,455,085 (GRCm39) |
Q655K |
probably benign |
Het |
Ddx52 |
A |
G |
11: 83,844,051 (GRCm39) |
|
probably null |
Het |
Entrep3 |
T |
A |
3: 89,093,115 (GRCm39) |
V213D |
probably damaging |
Het |
Eps8l3 |
T |
C |
3: 107,791,763 (GRCm39) |
|
probably null |
Het |
Erap1 |
T |
A |
13: 74,810,423 (GRCm39) |
|
probably null |
Het |
Flg |
T |
A |
3: 93,186,849 (GRCm39) |
N100K |
probably benign |
Het |
Grip2 |
A |
T |
6: 91,784,262 (GRCm39) |
V13E |
probably benign |
Het |
Iars1 |
T |
C |
13: 49,863,108 (GRCm39) |
V520A |
possibly damaging |
Het |
Impa1 |
A |
G |
3: 10,394,064 (GRCm39) |
M1T |
probably null |
Het |
Ip6k3 |
T |
C |
17: 27,368,934 (GRCm39) |
T179A |
possibly damaging |
Het |
Krt87 |
T |
A |
15: 101,385,467 (GRCm39) |
M302L |
probably benign |
Het |
Lrp8 |
T |
C |
4: 107,726,267 (GRCm39) |
Y899H |
probably damaging |
Het |
Lrpprc |
A |
T |
17: 85,020,250 (GRCm39) |
I1145N |
possibly damaging |
Het |
Mapk11 |
A |
T |
15: 89,028,387 (GRCm39) |
D324E |
probably benign |
Het |
Melk |
C |
T |
4: 44,351,007 (GRCm39) |
T516I |
probably benign |
Het |
Mia2 |
C |
T |
12: 59,193,723 (GRCm39) |
H130Y |
probably damaging |
Het |
Mroh5 |
C |
T |
15: 73,662,568 (GRCm39) |
|
probably null |
Het |
Ncam1 |
T |
C |
9: 49,418,829 (GRCm39) |
T824A |
possibly damaging |
Het |
Neurog1 |
T |
C |
13: 56,399,211 (GRCm39) |
S179G |
probably damaging |
Het |
Ntrk2 |
T |
A |
13: 58,985,633 (GRCm39) |
L79Q |
probably damaging |
Het |
Patj |
T |
A |
4: 98,457,290 (GRCm39) |
M46K |
probably damaging |
Het |
Pdcd6ip |
T |
C |
9: 113,491,366 (GRCm39) |
K626E |
probably benign |
Het |
Pdss2 |
T |
A |
10: 43,174,922 (GRCm39) |
Y143N |
probably damaging |
Het |
Pkhd1l1 |
G |
A |
15: 44,408,812 (GRCm39) |
S2433N |
probably damaging |
Het |
Plekha5 |
A |
G |
6: 140,518,639 (GRCm39) |
T309A |
possibly damaging |
Het |
Prdm4 |
C |
T |
10: 85,743,365 (GRCm39) |
V297M |
probably damaging |
Het |
Rab15 |
T |
C |
12: 76,847,377 (GRCm39) |
Y148C |
probably damaging |
Het |
Ryr3 |
A |
T |
2: 112,664,409 (GRCm39) |
N1627K |
probably damaging |
Het |
Scn1a |
G |
T |
2: 66,181,454 (GRCm39) |
A23E |
possibly damaging |
Het |
Smtn |
A |
T |
11: 3,483,486 (GRCm39) |
I30N |
probably damaging |
Het |
Sympk |
A |
G |
7: 18,780,749 (GRCm39) |
K751E |
probably benign |
Het |
Usp24 |
C |
T |
4: 106,225,264 (GRCm39) |
P632L |
probably damaging |
Het |
Vmn2r106 |
A |
G |
17: 20,498,738 (GRCm39) |
I391T |
probably benign |
Het |
Vmn2r54 |
G |
A |
7: 12,349,279 (GRCm39) |
P768S |
probably damaging |
Het |
Vmn2r54 |
C |
T |
7: 12,369,874 (GRCm39) |
C63Y |
probably damaging |
Het |
Zfhx3 |
T |
G |
8: 109,677,483 (GRCm39) |
C2844W |
possibly damaging |
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 |
|
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'- AGAGCTCTGTCTTCCCAAGC -3'
(R):5'- TCTGTCCTATGATAGAGAACCCTG -3'
Sequencing Primer
(F):5'- GCCTTCCCTCCCTCATCAGAATG -3'
(R):5'- CACTCAACATGAATTTTAGAGGCATG -3'
|
Posted On |
2017-03-31 |