Incidental Mutation 'R9682:Abcb1a'
| ID |
728609 |
| 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 |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R9682 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8752507 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 493
(M493L)
|
| 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 benign
Transcript: ENSMUST00000047753
AA Change: M493L
PolyPhen 2
Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: M493L
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,896,328 (GRCm39) |
I334F |
probably damaging |
Het |
| Acad9 |
C |
T |
3: 36,136,268 (GRCm39) |
A351V |
possibly damaging |
Het |
| Adgrg6 |
A |
T |
10: 14,316,128 (GRCm39) |
N536K |
possibly damaging |
Het |
| Alk |
A |
T |
17: 72,182,058 (GRCm39) |
L1322M |
possibly damaging |
Het |
| Atp2b1 |
T |
C |
10: 98,815,662 (GRCm39) |
V102A |
possibly damaging |
Het |
| Atp8b3 |
T |
C |
10: 80,371,230 (GRCm39) |
N48S |
probably damaging |
Het |
| B3gnt4 |
A |
T |
5: 123,649,516 (GRCm39) |
I294L |
probably benign |
Het |
| Bnip3 |
A |
G |
7: 138,496,445 (GRCm39) |
S88P |
probably damaging |
Het |
| Ccr2 |
A |
G |
9: 123,906,176 (GRCm39) |
Y152C |
probably damaging |
Het |
| Cd28 |
T |
C |
1: 60,804,505 (GRCm39) |
L161P |
probably damaging |
Het |
| Clcn4 |
C |
T |
7: 7,299,797 (GRCm39) |
V11M |
probably benign |
Het |
| Clec4g |
T |
A |
8: 3,757,713 (GRCm39) |
S79C |
unknown |
Het |
| Cux1 |
A |
T |
5: 136,337,116 (GRCm39) |
S799T |
probably benign |
Het |
| Cyp2t4 |
A |
T |
7: 26,857,611 (GRCm39) |
H408L |
probably damaging |
Het |
| Cyp3a41a |
A |
T |
5: 145,652,326 (GRCm39) |
W58R |
possibly damaging |
Het |
| Dicer1 |
A |
G |
12: 104,672,484 (GRCm39) |
V921A |
probably damaging |
Het |
| Dpysl3 |
A |
G |
18: 43,491,313 (GRCm39) |
L268P |
probably damaging |
Het |
| Dus3l |
G |
A |
17: 57,076,770 (GRCm39) |
V626I |
probably benign |
Het |
| Epb41 |
C |
A |
4: 131,655,820 (GRCm39) |
D337Y |
|
Het |
| Fer1l6 |
A |
G |
15: 58,422,113 (GRCm39) |
T104A |
probably benign |
Het |
| Fgd4 |
T |
C |
16: 16,302,202 (GRCm39) |
T118A |
probably benign |
Het |
| Gabra4 |
T |
A |
5: 71,798,415 (GRCm39) |
Y188F |
possibly damaging |
Het |
| Gm28168 |
A |
T |
1: 117,875,824 (GRCm39) |
H151L |
probably damaging |
Het |
| Gm7995 |
A |
G |
14: 42,133,395 (GRCm39) |
I91V |
|
Het |
| Heg1 |
A |
G |
16: 33,541,298 (GRCm39) |
E485G |
probably benign |
Het |
| Hirip3 |
A |
G |
7: 126,462,021 (GRCm39) |
D73G |
probably benign |
Het |
| Igdcc3 |
A |
G |
9: 65,091,332 (GRCm39) |
D684G |
probably benign |
Het |
| Kif15 |
A |
G |
9: 122,815,712 (GRCm39) |
E502G |
probably damaging |
Het |
| Lrrc31 |
C |
T |
3: 30,743,423 (GRCm39) |
V181I |
probably damaging |
Het |
| Lrrc7 |
G |
T |
3: 157,882,954 (GRCm39) |
S446R |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,831,526 (GRCm39) |
E1650G |
probably benign |
Het |
| Map3k6 |
A |
G |
4: 132,975,419 (GRCm39) |
Y718C |
possibly damaging |
Het |
| Mta1 |
T |
C |
12: 113,095,384 (GRCm39) |
|
probably null |
Het |
| Muc16 |
C |
T |
9: 18,553,874 (GRCm39) |
G4140R |
unknown |
Het |
| Nfe2l1 |
A |
C |
11: 96,710,944 (GRCm39) |
I428M |
probably benign |
Het |
| Nup210l |
T |
A |
3: 90,051,469 (GRCm39) |
Y538N |
possibly damaging |
Het |
| Nxpe4 |
G |
A |
9: 48,304,248 (GRCm39) |
V112M |
probably benign |
Het |
| Or1e16 |
C |
T |
11: 73,286,025 (GRCm39) |
M274I |
probably benign |
Het |
| Or4c112 |
T |
A |
2: 88,854,296 (GRCm39) |
Q17L |
possibly damaging |
Het |
| Or4k40 |
T |
A |
2: 111,250,737 (GRCm39) |
K186N |
probably benign |
Het |
| Or52d3 |
G |
T |
7: 104,229,434 (GRCm39) |
A194S |
probably damaging |
Het |
| Or8g24 |
G |
A |
9: 38,989,874 (GRCm39) |
H56Y |
possibly damaging |
Het |
| Palm |
A |
G |
10: 79,655,039 (GRCm39) |
T266A |
possibly damaging |
Het |
| Pdzph1 |
T |
G |
17: 59,257,262 (GRCm39) |
K925N |
probably damaging |
Het |
| Pfkfb3 |
G |
T |
2: 11,491,058 (GRCm39) |
Q179K |
probably benign |
Het |
| Phtf1 |
A |
G |
3: 103,901,214 (GRCm39) |
Q421R |
possibly damaging |
Het |
| Pip5k1b |
A |
T |
19: 24,356,318 (GRCm39) |
S207T |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,626,790 (GRCm39) |
V324A |
probably damaging |
Het |
| Plcxd1 |
A |
T |
5: 110,251,477 (GRCm39) |
N351I |
probably damaging |
Het |
| Prr14l |
G |
A |
5: 32,988,023 (GRCm39) |
P491S |
probably benign |
Het |
| Rxfp2 |
A |
T |
5: 149,966,564 (GRCm39) |
R101* |
probably null |
Het |
| Saxo2 |
T |
G |
7: 82,292,881 (GRCm39) |
K72T |
probably benign |
Het |
| Sema3b |
T |
A |
9: 107,481,013 (GRCm39) |
D108V |
probably damaging |
Het |
| Sh3gl2 |
A |
G |
4: 85,295,748 (GRCm39) |
D150G |
probably damaging |
Het |
| Slc6a12 |
G |
A |
6: 121,340,704 (GRCm39) |
M544I |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,646,981 (GRCm39) |
|
probably null |
Het |
| Stat3 |
A |
G |
11: 100,785,593 (GRCm39) |
F512L |
probably benign |
Het |
| Stk39 |
A |
G |
2: 68,196,449 (GRCm39) |
S327P |
probably damaging |
Het |
| Tjp3 |
C |
T |
10: 81,109,645 (GRCm39) |
E853K |
probably benign |
Het |
| Tmem30c |
A |
T |
16: 57,111,180 (GRCm39) |
S31T |
probably benign |
Het |
| Tpte |
A |
T |
8: 22,841,493 (GRCm39) |
D495V |
probably damaging |
Het |
| Ugt2b5 |
A |
T |
5: 87,287,522 (GRCm39) |
M215K |
probably damaging |
Het |
| Vinac1 |
T |
C |
2: 128,875,529 (GRCm39) |
S1246G |
unknown |
Het |
| Vsig2 |
T |
C |
9: 37,451,771 (GRCm39) |
L135S |
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 |
|
R0418:Abcb1a
|
UTSW |
5 |
8,763,281 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
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'- AGTGCTGCTCACCATTCTG -3'
(R):5'- TGTGGGCTGTAAAATCCAAGG -3'
Sequencing Primer
(F):5'- CCATTCTGTGTCTGTAATTCCAAAG -3'
(R):5'- GGATTTCCCAGCTAAGGCACTTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation