Incidental Mutation 'R7943:Abcb1a'
ID |
649148 |
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 |
045989-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R7943 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 8736222 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 205
(T205I)
|
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: T205I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000041204 Gene: ENSMUSG00000040584 AA Change: T205I
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (68/68) |
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: 69 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsbg1 |
T |
C |
9: 54,530,021 (GRCm39) |
H225R |
probably damaging |
Het |
Anks1 |
T |
A |
17: 28,204,178 (GRCm39) |
Y209N |
probably damaging |
Het |
Appl1 |
T |
A |
14: 26,667,525 (GRCm39) |
I377L |
probably benign |
Het |
Arl9 |
A |
T |
5: 77,158,395 (GRCm39) |
D159V |
probably damaging |
Het |
Arsa |
A |
C |
15: 89,358,292 (GRCm39) |
L339R |
probably damaging |
Het |
C2 |
A |
G |
17: 35,091,354 (GRCm39) |
L380P |
probably damaging |
Het |
Ccdc13 |
A |
G |
9: 121,628,196 (GRCm39) |
C97R |
unknown |
Het |
Ccdc74a |
A |
G |
16: 17,468,416 (GRCm39) |
H346R |
probably benign |
Het |
Ccnl1 |
T |
C |
3: 65,864,326 (GRCm39) |
I152V |
probably benign |
Het |
Cd4 |
C |
T |
6: 124,847,207 (GRCm39) |
|
probably null |
Het |
Ceacam5 |
A |
T |
7: 17,479,491 (GRCm39) |
I203L |
probably benign |
Het |
Ckap2 |
C |
A |
8: 22,665,090 (GRCm39) |
R458L |
probably damaging |
Het |
Cldn10 |
T |
C |
14: 119,099,271 (GRCm39) |
|
probably null |
Het |
Col27a1 |
C |
T |
4: 63,236,520 (GRCm39) |
R1377C |
unknown |
Het |
Cry1 |
A |
T |
10: 84,978,984 (GRCm39) |
M514K |
probably benign |
Het |
Crybg2 |
T |
G |
4: 133,800,295 (GRCm39) |
V176G |
probably damaging |
Het |
Cyp2j5 |
C |
T |
4: 96,547,849 (GRCm39) |
G131D |
possibly damaging |
Het |
Ddx46 |
A |
G |
13: 55,817,535 (GRCm39) |
Y720C |
probably damaging |
Het |
Dock10 |
A |
T |
1: 80,626,006 (GRCm39) |
V44D |
probably damaging |
Het |
Eif1ad8 |
C |
T |
12: 87,563,773 (GRCm39) |
A36V |
probably damaging |
Het |
Enam |
A |
T |
5: 88,636,410 (GRCm39) |
|
probably null |
Het |
Fam184a |
C |
A |
10: 53,509,802 (GRCm39) |
E126* |
probably null |
Het |
Fam184a |
C |
T |
10: 53,523,137 (GRCm39) |
A956T |
probably damaging |
Het |
Fbxw10 |
A |
T |
11: 62,741,487 (GRCm39) |
R202* |
probably null |
Het |
Fnip1 |
A |
G |
11: 54,393,214 (GRCm39) |
E550G |
probably damaging |
Het |
Gpr149 |
A |
G |
3: 62,438,132 (GRCm39) |
L675P |
probably damaging |
Het |
Hivep3 |
T |
C |
4: 119,989,554 (GRCm39) |
Y2002H |
probably benign |
Het |
Hp |
A |
G |
8: 110,302,187 (GRCm39) |
Y254H |
probably damaging |
Het |
Ighg1 |
G |
T |
12: 113,293,957 (GRCm39) |
T62N |
|
Het |
Jcad |
A |
G |
18: 4,672,700 (GRCm39) |
E154G |
probably damaging |
Het |
Kmt2a |
A |
G |
9: 44,760,437 (GRCm39) |
S471P |
probably damaging |
Het |
Med13 |
A |
G |
11: 86,169,352 (GRCm39) |
V1968A |
probably damaging |
Het |
Mknk2 |
T |
A |
10: 80,511,701 (GRCm39) |
Q3L |
probably benign |
Het |
Nup98 |
G |
A |
7: 101,844,029 (GRCm39) |
T65I |
probably benign |
Het |
Or10p21 |
T |
A |
10: 128,847,934 (GRCm39) |
M260K |
possibly damaging |
Het |
Or51f1e |
G |
A |
7: 102,747,153 (GRCm39) |
M68I |
probably damaging |
Het |
Or5m11 |
A |
G |
2: 85,782,342 (GRCm39) |
T312A |
probably benign |
Het |
Or9i14 |
A |
T |
19: 13,792,600 (GRCm39) |
M118K |
probably damaging |
Het |
Pcdhgb4 |
C |
T |
18: 37,855,063 (GRCm39) |
T486I |
probably benign |
Het |
Perm1 |
T |
A |
4: 156,302,991 (GRCm39) |
F512I |
probably damaging |
Het |
Pgap3 |
A |
T |
11: 98,281,227 (GRCm39) |
L262Q |
probably damaging |
Het |
Pklr |
A |
C |
3: 89,048,814 (GRCm39) |
Y126S |
probably damaging |
Het |
Ppl |
C |
T |
16: 4,906,725 (GRCm39) |
R1190H |
probably damaging |
Het |
Ppm1k |
T |
C |
6: 57,501,813 (GRCm39) |
T117A |
probably benign |
Het |
Prkd2 |
G |
A |
7: 16,584,244 (GRCm39) |
E366K |
probably benign |
Het |
Psd |
C |
A |
19: 46,313,169 (GRCm39) |
C67F |
possibly damaging |
Het |
Ptpra |
T |
A |
2: 30,322,056 (GRCm39) |
F100L |
probably damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rock1 |
T |
C |
18: 10,112,357 (GRCm39) |
E466G |
probably damaging |
Het |
Sec16b |
A |
T |
1: 157,382,327 (GRCm39) |
M588L |
probably benign |
Het |
Serpina1f |
T |
A |
12: 103,659,949 (GRCm39) |
H111L |
probably damaging |
Het |
Sf3a1 |
T |
C |
11: 4,116,537 (GRCm39) |
I76T |
possibly damaging |
Het |
Shcbp1 |
A |
T |
8: 4,798,812 (GRCm39) |
L369Q |
possibly damaging |
Het |
Spef2 |
A |
G |
15: 9,601,171 (GRCm39) |
M1697T |
unknown |
Het |
St7 |
G |
A |
6: 17,844,911 (GRCm39) |
C133Y |
probably damaging |
Het |
Tdpoz6 |
A |
T |
3: 93,600,070 (GRCm39) |
C100S |
probably benign |
Het |
Tex19.1 |
T |
A |
11: 121,037,986 (GRCm39) |
W115R |
possibly damaging |
Het |
Tfrc |
T |
A |
16: 32,449,039 (GRCm39) |
I726N |
probably benign |
Het |
Thbs1 |
A |
G |
2: 117,950,098 (GRCm39) |
|
probably null |
Het |
Trim43a |
C |
T |
9: 88,464,238 (GRCm39) |
P50S |
probably benign |
Het |
Trpm4 |
A |
T |
7: 44,958,105 (GRCm39) |
V935E |
probably damaging |
Het |
Ttc12 |
A |
T |
9: 49,381,620 (GRCm39) |
V117D |
possibly damaging |
Het |
Ulbp1 |
T |
C |
10: 7,407,053 (GRCm39) |
T82A |
probably damaging |
Het |
Usp13 |
C |
T |
3: 32,931,089 (GRCm39) |
H288Y |
probably damaging |
Het |
Vmn2r82 |
A |
G |
10: 79,232,079 (GRCm39) |
K693E |
possibly damaging |
Het |
Vmn2r90 |
A |
G |
17: 17,932,566 (GRCm39) |
T158A |
probably damaging |
Het |
Vps8 |
A |
G |
16: 21,296,622 (GRCm39) |
K540R |
possibly damaging |
Het |
Zfp143 |
T |
A |
7: 109,671,681 (GRCm39) |
|
probably null |
Het |
Zfp709 |
G |
T |
8: 72,643,933 (GRCm39) |
C454F |
probably damaging |
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 |
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'- GTTTCTTGACAAAACAACACTAGGC -3'
(R):5'- TATCATGGGGCTAGCTCAACTG -3'
Sequencing Primer
(F):5'- TTGACAAAACAACACTAGGCTCAGG -3'
(R):5'- GGGGCTAGCTCAACTGATATTTTATC -3'
|
Posted On |
2020-09-15 |