Incidental Mutation 'R8271:Abcb1a'
| ID |
637707 |
| 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 |
067652-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R8271 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 8736212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 202
(I202L)
|
| 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: I202L
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: I202L
| 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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadsb |
A |
T |
7: 131,045,423 (GRCm39) |
T452S |
unknown |
Het |
| Ago2 |
A |
T |
15: 72,991,315 (GRCm39) |
L541Q |
probably damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,200,812 (GRCm39) |
E553V |
probably damaging |
Het |
| Astn2 |
T |
C |
4: 65,910,663 (GRCm39) |
K442E |
unknown |
Het |
| Bicd1 |
A |
G |
6: 149,414,633 (GRCm39) |
T449A |
probably benign |
Het |
| Btn1a1 |
T |
A |
13: 23,645,919 (GRCm39) |
Q150L |
probably benign |
Het |
| C1ra |
G |
A |
6: 124,499,610 (GRCm39) |
G599R |
probably damaging |
Het |
| Camta2 |
T |
A |
11: 70,561,886 (GRCm39) |
Q1076L |
probably benign |
Het |
| Capza2 |
T |
A |
6: 17,657,214 (GRCm39) |
C157S |
probably damaging |
Het |
| Ccnk |
A |
G |
12: 108,162,114 (GRCm39) |
|
probably benign |
Het |
| Chd3 |
T |
A |
11: 69,251,483 (GRCm39) |
D516V |
probably damaging |
Het |
| Cntnap5b |
A |
G |
1: 99,999,832 (GRCm39) |
T197A |
probably benign |
Het |
| Comp |
A |
G |
8: 70,829,110 (GRCm39) |
N260S |
probably damaging |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Ddx60 |
T |
A |
8: 62,393,142 (GRCm39) |
|
probably null |
Het |
| Defb22 |
C |
T |
2: 152,327,712 (GRCm39) |
V158I |
unknown |
Het |
| Diaph3 |
T |
C |
14: 87,103,949 (GRCm39) |
S812G |
probably damaging |
Het |
| Dohh |
G |
T |
10: 81,221,844 (GRCm39) |
Q79H |
probably benign |
Het |
| Dyrk1b |
T |
G |
7: 27,882,080 (GRCm39) |
V147G |
probably benign |
Het |
| Fastkd2 |
C |
T |
1: 63,787,183 (GRCm39) |
T539I |
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,306,622 (GRCm39) |
D229N |
probably damaging |
Het |
| Kcnv1 |
A |
T |
15: 44,972,754 (GRCm39) |
D376E |
probably benign |
Het |
| Kif13a |
C |
A |
13: 46,906,057 (GRCm39) |
V1577F |
probably benign |
Het |
| L3mbtl4 |
G |
A |
17: 68,793,938 (GRCm39) |
R314H |
probably damaging |
Het |
| Mcoln2 |
A |
C |
3: 145,898,179 (GRCm39) |
N100T |
unknown |
Het |
| Mdh1b |
C |
T |
1: 63,759,164 (GRCm39) |
V143M |
possibly damaging |
Het |
| Mfsd4b4 |
G |
T |
10: 39,768,101 (GRCm39) |
Q377K |
probably benign |
Het |
| Mpv17l |
T |
C |
16: 13,762,584 (GRCm39) |
F122S |
probably damaging |
Het |
| Mylk |
T |
C |
16: 34,742,949 (GRCm39) |
S1154P |
probably damaging |
Het |
| Myo5b |
A |
G |
18: 74,760,261 (GRCm39) |
Y259C |
probably damaging |
Het |
| Nek1 |
G |
A |
8: 61,558,646 (GRCm39) |
V931M |
probably benign |
Het |
| Nkd2 |
C |
A |
13: 73,969,437 (GRCm39) |
G343V |
probably damaging |
Het |
| Obox8 |
T |
A |
7: 14,065,928 (GRCm39) |
T197S |
probably benign |
Het |
| Or10j5 |
T |
A |
1: 172,784,744 (GRCm39) |
C127* |
probably null |
Het |
| Or13g1 |
G |
A |
7: 85,955,962 (GRCm39) |
R120C |
probably benign |
Het |
| Or4b1b |
A |
G |
2: 90,112,616 (GRCm39) |
F101S |
possibly damaging |
Het |
| Or5m11b |
T |
G |
2: 85,806,085 (GRCm39) |
M166R |
probably benign |
Het |
| Or5m11b |
T |
C |
2: 85,805,766 (GRCm39) |
Y60H |
probably damaging |
Het |
| Or5p57 |
A |
G |
7: 107,664,980 (GRCm39) |
S342P |
probably damaging |
Het |
| Or5t7 |
T |
A |
2: 86,507,218 (GRCm39) |
H153L |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,724,097 (GRCm39) |
S551T |
probably damaging |
Het |
| Pcdha12 |
T |
A |
18: 37,154,953 (GRCm39) |
D557E |
probably damaging |
Het |
| Pcdhb21 |
T |
A |
18: 37,648,921 (GRCm39) |
D683E |
probably benign |
Het |
| Plekhb1 |
A |
G |
7: 100,305,936 (GRCm39) |
|
probably benign |
Het |
| Plekhg5 |
A |
G |
4: 152,187,464 (GRCm39) |
N90D |
probably damaging |
Het |
| Pnpla1 |
A |
G |
17: 29,100,579 (GRCm39) |
D482G |
probably benign |
Het |
| Rc3h1 |
A |
T |
1: 160,768,329 (GRCm39) |
|
probably benign |
Het |
| Rfpl4 |
C |
T |
7: 5,113,539 (GRCm39) |
R214H |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Setd5 |
T |
C |
6: 113,092,031 (GRCm39) |
I284T |
possibly damaging |
Het |
| Smurf1 |
C |
T |
5: 144,830,897 (GRCm39) |
E293K |
possibly damaging |
Het |
| Tas2r106 |
A |
T |
6: 131,655,023 (GRCm39) |
I276N |
probably damaging |
Het |
| Tbc1d2 |
C |
A |
4: 46,649,791 (GRCm39) |
A82S |
possibly damaging |
Het |
| Tex19.2 |
A |
G |
11: 121,008,010 (GRCm39) |
I146T |
possibly damaging |
Het |
| Tmem107 |
T |
G |
11: 68,962,281 (GRCm39) |
N79K |
probably damaging |
Het |
| Tpsab1 |
A |
T |
17: 25,564,305 (GRCm39) |
S50T |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,553,594 (GRCm39) |
K31008* |
probably null |
Het |
| Ubox5 |
T |
C |
2: 130,441,629 (GRCm39) |
T353A |
probably benign |
Het |
| Usp24 |
T |
A |
4: 106,285,711 (GRCm39) |
H2445Q |
probably damaging |
Het |
| Uvrag |
T |
C |
7: 98,537,698 (GRCm39) |
D499G |
probably benign |
Het |
| Xndc1 |
A |
T |
7: 101,728,343 (GRCm39) |
N247I |
possibly damaging |
Het |
| Yipf2 |
A |
T |
9: 21,501,291 (GRCm39) |
W226R |
probably damaging |
Het |
| Zfp335 |
T |
A |
2: 164,739,973 (GRCm39) |
Q793L |
probably damaging |
Het |
| Zfp385c |
A |
G |
11: 100,548,291 (GRCm39) |
S54P |
probably damaging |
Het |
| Zpld2 |
G |
T |
4: 133,930,278 (GRCm39) |
T9K |
unknown |
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 |
|
|
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'- TTGACAAAACAACACTAGGCTCAGG -3'
(R):5'- ATCATGGGGCTAGCTCAACTG -3'
Sequencing Primer
(F):5'- CAGTTCTGACATCACATGT -3'
(R):5'- GGGGCTAGCTCAACTGATATTTTATC -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation