Incidental Mutation 'R0418:Abcb1a'
ID |
36857 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Abcb1a
|
Ensembl Gene |
ENSMUSG00000040584 |
Gene Name |
ATP-binding cassette, sub-family B member 1A |
Synonyms |
Evi32, multiple drug resistant 1a, Pgp, MDR3, Pgy-3, Mdr1a, P-glycoprotein, P-gp, Pgy3, mdr-3 |
MMRRC Submission |
038620-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R0418 (G1)
|
Quality Score |
218 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 8763281 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 603
(V603E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000041204
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047753]
|
AlphaFold |
P21447 |
PDB Structure |
Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION]
Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION]
Structure of P-glycoprotein Reveals a Molecular Basis for Poly-Specific Drug Binding [X-RAY DIFFRACTION]
Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION]
Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION]
Structures of P-glycoprotein reveal its conformational flexibility and an epitope on the nucleotide-binding domain [X-RAY DIFFRACTION]
Structure of Mouse P-Glycoprotein [X-RAY DIFFRACTION]
Corrected Structure of Mouse P-glycoprotein [X-RAY DIFFRACTION]
Corrected Structure of Mouse P-glycoprotein bound to QZ59-RRR [X-RAY DIFFRACTION]
Corrected Structure of Mouse P-glycoprotein bound to QZ59-SSS [X-RAY DIFFRACTION]
>> 5 additional structures at PDB <<
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047753
AA Change: V603E
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000041204 Gene: ENSMUSG00000040584 AA Change: V603E
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
30 |
N/A |
INTRINSIC |
Pfam:ABC_membrane
|
50 |
339 |
8.3e-97 |
PFAM |
AAA
|
415 |
607 |
1.22e-20 |
SMART |
Pfam:ABC_membrane
|
707 |
982 |
4.8e-79 |
PFAM |
AAA
|
1058 |
1246 |
8.85e-18 |
SMART |
|
Meta Mutation Damage Score |
0.3212 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.2%
|
Validation Efficiency |
98% (64/65) |
MGI Phenotype |
FUNCTION: The membrane-associated protein encoded by this gene is a member of 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 MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a p-glycoprotein which actively transports a variety of hydrophobic amphipathic drugs and plays a major role in the blood-brain barrier permeability of certain drugs. [provided by RefSeq, Jul 2008] PHENOTYPE: Mutations in this gene result in increased sensitivity to various drugs, including avermectins and vinblastine. Mice with a null allele develop spontanous colitis. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930018P22Rik |
G |
T |
2: 103,953,675 (GRCm39) |
|
probably null |
Het |
Abca14 |
T |
C |
7: 119,806,657 (GRCm39) |
L19P |
probably damaging |
Het |
Acsl5 |
A |
G |
19: 55,261,238 (GRCm39) |
D65G |
probably benign |
Het |
Acss3 |
T |
C |
10: 106,859,773 (GRCm39) |
Y311C |
probably damaging |
Het |
Ak8 |
T |
G |
2: 28,623,868 (GRCm39) |
I151S |
possibly damaging |
Het |
Aldh1a1 |
T |
C |
19: 20,606,413 (GRCm39) |
|
probably benign |
Het |
Aldh1l1 |
A |
G |
6: 90,546,875 (GRCm39) |
R393G |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,767,353 (GRCm39) |
L1164Q |
probably damaging |
Het |
Ascc3 |
G |
T |
10: 50,625,022 (GRCm39) |
V1637L |
probably benign |
Het |
Atf5 |
A |
G |
7: 44,462,821 (GRCm39) |
M101T |
possibly damaging |
Het |
Det1 |
T |
C |
7: 78,493,765 (GRCm39) |
T80A |
probably benign |
Het |
Dpp9 |
C |
T |
17: 56,501,404 (GRCm39) |
|
probably benign |
Het |
Fam13c |
A |
G |
10: 70,370,591 (GRCm39) |
R244G |
probably damaging |
Het |
Fat3 |
A |
T |
9: 16,158,192 (GRCm39) |
N1139K |
probably damaging |
Het |
Fbxo17 |
A |
G |
7: 28,432,916 (GRCm39) |
T146A |
possibly damaging |
Het |
Fli1 |
T |
C |
9: 32,363,425 (GRCm39) |
|
probably benign |
Het |
Glb1l2 |
T |
G |
9: 26,705,397 (GRCm39) |
D151A |
probably damaging |
Het |
Gli2 |
G |
A |
1: 118,768,220 (GRCm39) |
T669I |
possibly damaging |
Het |
Igsf3 |
C |
A |
3: 101,342,751 (GRCm39) |
R463S |
probably damaging |
Het |
Il1rl2 |
T |
C |
1: 40,365,662 (GRCm39) |
V3A |
unknown |
Het |
Irx3 |
G |
A |
8: 92,526,708 (GRCm39) |
S332F |
probably benign |
Het |
Katnb1 |
C |
T |
8: 95,822,286 (GRCm39) |
T303M |
possibly damaging |
Het |
Lrrc31 |
A |
T |
3: 30,743,383 (GRCm39) |
L194Q |
probably damaging |
Het |
Lrrc37a |
T |
G |
11: 103,394,264 (GRCm39) |
E387A |
probably benign |
Het |
Mapk14 |
T |
C |
17: 28,910,763 (GRCm39) |
I17T |
probably benign |
Het |
Mtif2 |
A |
G |
11: 29,483,401 (GRCm39) |
|
probably benign |
Het |
Myo16 |
A |
G |
8: 10,619,918 (GRCm39) |
T1490A |
probably benign |
Het |
Nfasc |
A |
G |
1: 132,539,333 (GRCm39) |
V399A |
probably damaging |
Het |
Nhsl3 |
A |
G |
4: 129,117,477 (GRCm39) |
S396P |
probably damaging |
Het |
Nobox |
T |
C |
6: 43,284,169 (GRCm39) |
K1E |
probably null |
Het |
Nr2c1 |
A |
T |
10: 94,017,374 (GRCm39) |
M371L |
probably benign |
Het |
Oplah |
C |
T |
15: 76,182,687 (GRCm39) |
R924H |
probably benign |
Het |
Or10ak16 |
C |
T |
4: 118,750,448 (GRCm39) |
T56I |
possibly damaging |
Het |
Or51a10 |
G |
A |
7: 103,698,979 (GRCm39) |
T194I |
probably benign |
Het |
Pappa2 |
C |
A |
1: 158,544,560 (GRCm39) |
C1756F |
probably damaging |
Het |
Pdzd8 |
G |
A |
19: 59,289,361 (GRCm39) |
R680C |
probably damaging |
Het |
Rassf3 |
G |
A |
10: 121,253,075 (GRCm39) |
T44M |
probably benign |
Het |
Rmnd1 |
T |
C |
10: 4,377,693 (GRCm39) |
|
probably null |
Het |
Rnf126 |
C |
T |
10: 79,598,477 (GRCm39) |
|
probably benign |
Het |
Rnf144b |
T |
C |
13: 47,397,966 (GRCm39) |
S299P |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,848,981 (GRCm39) |
|
probably benign |
Het |
Scel |
T |
A |
14: 103,840,690 (GRCm39) |
S511T |
probably benign |
Het |
Slc16a10 |
G |
T |
10: 39,916,627 (GRCm39) |
S138* |
probably null |
Het |
Slc36a4 |
A |
T |
9: 15,645,562 (GRCm39) |
I330F |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,722,420 (GRCm39) |
I84M |
probably benign |
Het |
Spag9 |
T |
C |
11: 93,982,579 (GRCm39) |
|
probably benign |
Het |
Suco |
C |
T |
1: 161,662,419 (GRCm39) |
V671I |
probably benign |
Het |
Suox |
G |
A |
10: 128,506,754 (GRCm39) |
P425S |
probably damaging |
Het |
Tmem266 |
T |
A |
9: 55,344,697 (GRCm39) |
V443E |
probably benign |
Het |
Tmprss11f |
A |
T |
5: 86,704,870 (GRCm39) |
I16N |
probably benign |
Het |
Tnik |
T |
A |
3: 28,625,029 (GRCm39) |
Y321* |
probably null |
Het |
Tnrc6b |
T |
C |
15: 80,797,524 (GRCm39) |
M1357T |
probably benign |
Het |
Tpbg |
C |
A |
9: 85,726,803 (GRCm39) |
Y257* |
probably null |
Het |
Usp37 |
A |
T |
1: 74,529,266 (GRCm39) |
S138T |
probably benign |
Het |
Veph1 |
T |
A |
3: 66,162,449 (GRCm39) |
R70* |
probably null |
Het |
Vmn2r17 |
C |
T |
5: 109,600,747 (GRCm39) |
P682S |
probably damaging |
Het |
Vmn2r79 |
A |
C |
7: 86,651,611 (GRCm39) |
N337H |
probably benign |
Het |
Vstm2b |
A |
G |
7: 40,551,876 (GRCm39) |
D68G |
probably damaging |
Het |
Vwa7 |
G |
T |
17: 35,236,933 (GRCm39) |
A167S |
possibly damaging |
Het |
Zfp647 |
A |
T |
15: 76,795,586 (GRCm39) |
I358N |
probably damaging |
Het |
Zic2 |
CCCACCACCACCATCACCACCACCACC |
CCCACCATCACCACCACCACC |
14: 122,713,776 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Abcb1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00704:Abcb1a
|
APN |
5 |
8,736,257 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00898:Abcb1a
|
APN |
5 |
8,783,690 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01064:Abcb1a
|
APN |
5 |
8,782,388 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL01118:Abcb1a
|
APN |
5 |
8,724,687 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01150:Abcb1a
|
APN |
5 |
8,752,550 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01584:Abcb1a
|
APN |
5 |
8,748,637 (GRCm39) |
missense |
possibly damaging |
0.95 |
IGL01654:Abcb1a
|
APN |
5 |
8,765,065 (GRCm39) |
critical splice donor site |
probably null |
|
IGL01820:Abcb1a
|
APN |
5 |
8,765,896 (GRCm39) |
splice site |
probably benign |
|
IGL02499:Abcb1a
|
APN |
5 |
8,776,807 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02711:Abcb1a
|
APN |
5 |
8,773,245 (GRCm39) |
splice site |
probably null |
|
IGL02954:Abcb1a
|
APN |
5 |
8,782,341 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03018:Abcb1a
|
APN |
5 |
8,752,451 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03119:Abcb1a
|
APN |
5 |
8,764,887 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03292:Abcb1a
|
APN |
5 |
8,765,827 (GRCm39) |
missense |
possibly damaging |
0.93 |
IGL03338:Abcb1a
|
APN |
5 |
8,744,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R0559:Abcb1a
|
UTSW |
5 |
8,748,535 (GRCm39) |
missense |
probably benign |
0.01 |
R0595:Abcb1a
|
UTSW |
5 |
8,790,417 (GRCm39) |
missense |
probably damaging |
1.00 |
R0599:Abcb1a
|
UTSW |
5 |
8,748,539 (GRCm39) |
missense |
probably benign |
0.13 |
R0811:Abcb1a
|
UTSW |
5 |
8,763,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R0812:Abcb1a
|
UTSW |
5 |
8,763,229 (GRCm39) |
missense |
probably damaging |
1.00 |
R0894:Abcb1a
|
UTSW |
5 |
8,724,856 (GRCm39) |
splice site |
probably benign |
|
R0948:Abcb1a
|
UTSW |
5 |
8,790,621 (GRCm39) |
splice site |
probably null |
|
R1292:Abcb1a
|
UTSW |
5 |
8,763,343 (GRCm39) |
missense |
probably benign |
0.00 |
R1318:Abcb1a
|
UTSW |
5 |
8,751,621 (GRCm39) |
missense |
probably benign |
0.31 |
R1459:Abcb1a
|
UTSW |
5 |
8,752,920 (GRCm39) |
missense |
probably damaging |
1.00 |
R1489:Abcb1a
|
UTSW |
5 |
8,736,300 (GRCm39) |
critical splice donor site |
probably null |
|
R1514:Abcb1a
|
UTSW |
5 |
8,724,791 (GRCm39) |
missense |
possibly damaging |
0.88 |
R2100:Abcb1a
|
UTSW |
5 |
8,763,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R2409:Abcb1a
|
UTSW |
5 |
8,788,747 (GRCm39) |
missense |
probably benign |
0.30 |
R2844:Abcb1a
|
UTSW |
5 |
8,736,164 (GRCm39) |
missense |
probably benign |
0.02 |
R3709:Abcb1a
|
UTSW |
5 |
8,788,738 (GRCm39) |
missense |
probably benign |
0.03 |
R3755:Abcb1a
|
UTSW |
5 |
8,797,403 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4193:Abcb1a
|
UTSW |
5 |
8,765,068 (GRCm39) |
splice site |
probably null |
|
R4401:Abcb1a
|
UTSW |
5 |
8,752,390 (GRCm39) |
missense |
possibly damaging |
0.54 |
R4463:Abcb1a
|
UTSW |
5 |
8,769,981 (GRCm39) |
splice site |
probably benign |
|
R4539:Abcb1a
|
UTSW |
5 |
8,765,793 (GRCm39) |
missense |
probably benign |
|
R4635:Abcb1a
|
UTSW |
5 |
8,764,927 (GRCm39) |
missense |
probably benign |
|
R4740:Abcb1a
|
UTSW |
5 |
8,752,280 (GRCm39) |
critical splice donor site |
probably null |
|
R4757:Abcb1a
|
UTSW |
5 |
8,787,632 (GRCm39) |
missense |
probably damaging |
0.99 |
R4764:Abcb1a
|
UTSW |
5 |
8,765,732 (GRCm39) |
splice site |
probably null |
|
R4792:Abcb1a
|
UTSW |
5 |
8,796,657 (GRCm39) |
critical splice donor site |
probably null |
|
R4829:Abcb1a
|
UTSW |
5 |
8,773,214 (GRCm39) |
missense |
probably damaging |
1.00 |
R4935:Abcb1a
|
UTSW |
5 |
8,787,773 (GRCm39) |
critical splice donor site |
probably null |
|
R5140:Abcb1a
|
UTSW |
5 |
8,752,154 (GRCm39) |
missense |
probably damaging |
0.99 |
R5181:Abcb1a
|
UTSW |
5 |
8,764,937 (GRCm39) |
missense |
probably benign |
|
R5355:Abcb1a
|
UTSW |
5 |
8,776,873 (GRCm39) |
missense |
probably damaging |
1.00 |
R5406:Abcb1a
|
UTSW |
5 |
8,752,946 (GRCm39) |
missense |
probably damaging |
0.99 |
R5496:Abcb1a
|
UTSW |
5 |
8,724,818 (GRCm39) |
missense |
probably benign |
|
R5557:Abcb1a
|
UTSW |
5 |
8,764,949 (GRCm39) |
missense |
probably benign |
0.01 |
R5572:Abcb1a
|
UTSW |
5 |
8,765,108 (GRCm39) |
splice site |
probably null |
|
R5702:Abcb1a
|
UTSW |
5 |
8,787,752 (GRCm39) |
missense |
probably benign |
0.15 |
R5753:Abcb1a
|
UTSW |
5 |
8,773,160 (GRCm39) |
missense |
probably damaging |
0.98 |
R5769:Abcb1a
|
UTSW |
5 |
8,733,426 (GRCm39) |
missense |
probably benign |
0.01 |
R5895:Abcb1a
|
UTSW |
5 |
8,752,216 (GRCm39) |
missense |
probably damaging |
1.00 |
R6536:Abcb1a
|
UTSW |
5 |
8,769,030 (GRCm39) |
missense |
probably benign |
0.01 |
R6555:Abcb1a
|
UTSW |
5 |
8,752,468 (GRCm39) |
missense |
probably damaging |
0.97 |
R6798:Abcb1a
|
UTSW |
5 |
8,782,364 (GRCm39) |
missense |
probably damaging |
1.00 |
R6875:Abcb1a
|
UTSW |
5 |
8,751,628 (GRCm39) |
missense |
probably benign |
0.28 |
R7000:Abcb1a
|
UTSW |
5 |
8,752,823 (GRCm39) |
missense |
probably benign |
0.19 |
R7102:Abcb1a
|
UTSW |
5 |
8,744,072 (GRCm39) |
missense |
probably benign |
0.01 |
R7172:Abcb1a
|
UTSW |
5 |
8,752,399 (GRCm39) |
missense |
probably benign |
0.00 |
R7313:Abcb1a
|
UTSW |
5 |
8,773,187 (GRCm39) |
missense |
probably damaging |
1.00 |
R7513:Abcb1a
|
UTSW |
5 |
8,765,771 (GRCm39) |
nonsense |
probably null |
|
R7718:Abcb1a
|
UTSW |
5 |
8,765,788 (GRCm39) |
missense |
probably damaging |
1.00 |
R7816:Abcb1a
|
UTSW |
5 |
8,736,132 (GRCm39) |
missense |
possibly damaging |
0.56 |
R7829:Abcb1a
|
UTSW |
5 |
8,748,623 (GRCm39) |
missense |
probably benign |
0.06 |
R7943:Abcb1a
|
UTSW |
5 |
8,736,222 (GRCm39) |
missense |
probably benign |
|
R8040:Abcb1a
|
UTSW |
5 |
8,765,035 (GRCm39) |
missense |
probably benign |
0.00 |
R8086:Abcb1a
|
UTSW |
5 |
8,724,833 (GRCm39) |
missense |
probably benign |
|
R8271:Abcb1a
|
UTSW |
5 |
8,736,212 (GRCm39) |
missense |
probably benign |
0.41 |
R8367:Abcb1a
|
UTSW |
5 |
8,736,221 (GRCm39) |
missense |
probably benign |
0.00 |
R8520:Abcb1a
|
UTSW |
5 |
8,735,346 (GRCm39) |
missense |
possibly damaging |
0.67 |
R8680:Abcb1a
|
UTSW |
5 |
8,735,371 (GRCm39) |
missense |
probably damaging |
0.99 |
R8820:Abcb1a
|
UTSW |
5 |
8,773,204 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8996:Abcb1a
|
UTSW |
5 |
8,769,069 (GRCm39) |
missense |
probably benign |
0.00 |
R9114:Abcb1a
|
UTSW |
5 |
8,788,702 (GRCm39) |
nonsense |
probably null |
|
R9127:Abcb1a
|
UTSW |
5 |
8,724,707 (GRCm39) |
missense |
probably benign |
|
R9187:Abcb1a
|
UTSW |
5 |
8,765,016 (GRCm39) |
missense |
probably benign |
|
R9294:Abcb1a
|
UTSW |
5 |
8,736,171 (GRCm39) |
missense |
probably benign |
0.02 |
R9459:Abcb1a
|
UTSW |
5 |
8,735,414 (GRCm39) |
critical splice donor site |
probably null |
|
R9581:Abcb1a
|
UTSW |
5 |
8,790,428 (GRCm39) |
missense |
possibly damaging |
0.66 |
R9617:Abcb1a
|
UTSW |
5 |
8,797,353 (GRCm39) |
critical splice acceptor site |
probably null |
|
R9676:Abcb1a
|
UTSW |
5 |
8,714,548 (GRCm39) |
missense |
possibly damaging |
0.87 |
R9682:Abcb1a
|
UTSW |
5 |
8,752,507 (GRCm39) |
missense |
probably benign |
0.44 |
R9790:Abcb1a
|
UTSW |
5 |
8,748,604 (GRCm39) |
missense |
probably damaging |
1.00 |
R9791:Abcb1a
|
UTSW |
5 |
8,748,604 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Abcb1a
|
UTSW |
5 |
8,796,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAACACTGAAGTCTAAGCTCTGCTCT -3'
(R):5'- AGATCTGAAGGTGCAGGCTCGT -3'
Sequencing Primer
(F):5'- CATGCCAGTACAATGCCTTG -3'
(R):5'- CTCGTGGAAaaacaaacaaacaaac -3'
|
Posted On |
2013-05-09 |