Incidental Mutation 'R9617:Abcb1a'
ID |
726509 |
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: 0.172)
|
Stock # |
R9617 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
A to T
at 8797353 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000047753
|
SMART Domains |
Protein: ENSMUSP00000041204 Gene: ENSMUSG00000040584
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110032F04Rik |
C |
T |
3: 68,777,402 (GRCm39) |
P121L |
probably damaging |
Het |
4930442H23Rik |
C |
T |
10: 81,018,976 (GRCm39) |
V16I |
unknown |
Het |
4930444P10Rik |
T |
C |
1: 16,139,051 (GRCm39) |
M97V |
probably benign |
Het |
Abhd5 |
T |
C |
9: 122,197,035 (GRCm39) |
I74T |
probably benign |
Het |
Ankle2 |
T |
A |
5: 110,399,409 (GRCm39) |
F590I |
probably damaging |
Het |
C2cd6 |
T |
C |
1: 59,097,848 (GRCm39) |
S414G |
probably benign |
Het |
Catsperd |
G |
A |
17: 56,968,252 (GRCm39) |
D546N |
probably benign |
Het |
Cep295nl |
G |
T |
11: 118,224,000 (GRCm39) |
H281Q |
possibly damaging |
Het |
Cfap69 |
T |
C |
5: 5,639,164 (GRCm39) |
E670G |
probably damaging |
Het |
Cfh |
A |
T |
1: 140,090,718 (GRCm39) |
V90E |
possibly damaging |
Het |
Cnksr3 |
A |
C |
10: 7,079,021 (GRCm39) |
|
probably null |
Het |
Cntrl |
T |
A |
2: 35,035,077 (GRCm39) |
F901L |
probably benign |
Het |
Coch |
T |
A |
12: 51,645,034 (GRCm39) |
M196K |
probably damaging |
Het |
Crygd |
T |
C |
1: 65,102,369 (GRCm39) |
N34S |
probably damaging |
Het |
Ctdp1 |
A |
T |
18: 80,492,962 (GRCm39) |
I511N |
probably benign |
Het |
Dhx30 |
C |
T |
9: 109,926,186 (GRCm39) |
A142T |
probably damaging |
Het |
Dlg2 |
T |
C |
7: 92,087,284 (GRCm39) |
|
probably null |
Het |
Dmxl1 |
A |
G |
18: 49,998,228 (GRCm39) |
D776G |
probably damaging |
Het |
Dnm3 |
C |
T |
1: 162,149,354 (GRCm39) |
G197D |
probably damaging |
Het |
Eif4g3 |
A |
G |
4: 137,824,190 (GRCm39) |
H91R |
probably damaging |
Het |
Ephb6 |
A |
G |
6: 41,596,258 (GRCm39) |
M844V |
probably damaging |
Het |
Erc1 |
T |
C |
6: 119,773,902 (GRCm39) |
E351G |
probably benign |
Het |
Etfbkmt |
G |
A |
6: 149,045,744 (GRCm39) |
G33R |
probably benign |
Het |
Fnbp4 |
T |
C |
2: 90,588,738 (GRCm39) |
I503T |
probably benign |
Het |
Gm6370 |
A |
T |
5: 146,429,993 (GRCm39) |
Q143L |
probably benign |
Het |
Gnas |
T |
C |
2: 174,141,988 (GRCm39) |
V719A |
possibly damaging |
Het |
H13 |
C |
A |
2: 152,530,873 (GRCm39) |
D219E |
probably damaging |
Het |
Hhatl |
G |
A |
9: 121,618,191 (GRCm39) |
T188I |
possibly damaging |
Het |
Ifi27l2b |
C |
T |
12: 103,422,683 (GRCm39) |
A45T |
probably damaging |
Het |
Kbtbd8 |
T |
C |
6: 95,103,874 (GRCm39) |
C585R |
possibly damaging |
Het |
Limk2 |
A |
G |
11: 3,297,715 (GRCm39) |
S473P |
probably damaging |
Het |
Lrba |
G |
A |
3: 86,267,169 (GRCm39) |
G1620S |
probably benign |
Het |
Lrrtm2 |
T |
C |
18: 35,346,490 (GRCm39) |
T271A |
probably benign |
Het |
Map3k4 |
A |
G |
17: 12,476,871 (GRCm39) |
S759P |
possibly damaging |
Het |
Mybphl |
G |
T |
3: 108,282,952 (GRCm39) |
V247F |
possibly damaging |
Het |
Myh10 |
T |
A |
11: 68,682,815 (GRCm39) |
V1120D |
probably benign |
Het |
Naip1 |
T |
C |
13: 100,569,821 (GRCm39) |
N271S |
probably benign |
Het |
Napepld |
C |
T |
5: 21,875,561 (GRCm39) |
V328I |
probably damaging |
Het |
Nucb1 |
A |
G |
7: 45,148,159 (GRCm39) |
V218A |
probably benign |
Het |
Nup107 |
A |
T |
10: 117,593,238 (GRCm39) |
D813E |
probably benign |
Het |
Or14j3 |
T |
A |
17: 37,901,053 (GRCm39) |
K64* |
probably null |
Het |
Or5g29 |
T |
A |
2: 85,421,279 (GRCm39) |
Y132N |
probably damaging |
Het |
Or6c35 |
A |
T |
10: 129,168,794 (GRCm39) |
T15S |
probably damaging |
Het |
Or8g52 |
A |
G |
9: 39,630,678 (GRCm39) |
S52G |
possibly damaging |
Het |
Pabpc2 |
T |
C |
18: 39,907,602 (GRCm39) |
I289T |
probably benign |
Het |
Parg |
A |
G |
14: 31,960,569 (GRCm39) |
I600V |
probably benign |
Het |
Patj |
T |
C |
4: 98,393,991 (GRCm39) |
F975L |
probably benign |
Het |
Pcdhb17 |
A |
G |
18: 37,618,218 (GRCm39) |
T3A |
probably benign |
Het |
Piezo2 |
T |
C |
18: 63,248,108 (GRCm39) |
E464G |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,800,341 (GRCm39) |
V3034D |
probably damaging |
Het |
Pld2 |
A |
G |
11: 70,447,944 (GRCm39) |
E869G |
probably damaging |
Het |
Plek |
T |
A |
11: 16,945,311 (GRCm39) |
L29F |
possibly damaging |
Het |
Prelp |
A |
G |
1: 133,842,416 (GRCm39) |
L243P |
probably damaging |
Het |
Rapgef5 |
T |
A |
12: 117,621,930 (GRCm39) |
D231E |
probably benign |
Het |
Riok1 |
A |
G |
13: 38,244,016 (GRCm39) |
E514G |
probably benign |
Het |
Rmdn2 |
T |
C |
17: 79,928,790 (GRCm39) |
M14T |
probably benign |
Het |
Rorb |
G |
A |
19: 18,939,499 (GRCm39) |
Q228* |
probably null |
Het |
Scmh1 |
T |
A |
4: 120,340,827 (GRCm39) |
M171K |
probably damaging |
Het |
Scn9a |
A |
G |
2: 66,392,809 (GRCm39) |
L261P |
probably damaging |
Het |
Senp7 |
A |
T |
16: 55,971,652 (GRCm39) |
N263I |
probably benign |
Het |
Slc11a1 |
G |
T |
1: 74,419,041 (GRCm39) |
A162S |
probably benign |
Het |
Slc6a17 |
A |
G |
3: 107,384,685 (GRCm39) |
V305A |
probably damaging |
Het |
Snph |
A |
T |
2: 151,435,422 (GRCm39) |
V502E |
probably damaging |
Het |
Sost |
G |
T |
11: 101,854,892 (GRCm39) |
A139E |
possibly damaging |
Het |
Srp54a |
A |
T |
12: 55,136,061 (GRCm39) |
E25D |
probably benign |
Het |
Tmeff1 |
T |
A |
4: 48,636,940 (GRCm39) |
C213S |
probably damaging |
Het |
Tmem232 |
A |
T |
17: 65,807,180 (GRCm39) |
Y4* |
probably null |
Het |
Tmem63c |
T |
G |
12: 87,103,361 (GRCm39) |
I45S |
probably benign |
Het |
Ttbk1 |
C |
T |
17: 46,757,998 (GRCm39) |
G879S |
probably damaging |
Het |
Ugt1a7c |
A |
G |
1: 88,022,952 (GRCm39) |
H37R |
probably damaging |
Het |
Vmn1r236 |
T |
C |
17: 21,507,053 (GRCm39) |
L57P |
probably damaging |
Het |
Wnk2 |
T |
A |
13: 49,192,453 (GRCm39) |
E675V |
unknown |
Het |
Wnt10b |
T |
C |
15: 98,674,609 (GRCm39) |
T43A |
probably damaging |
Het |
Wnt8a |
C |
A |
18: 34,680,163 (GRCm39) |
T176K |
probably benign |
Het |
Zfp937 |
T |
A |
2: 150,080,452 (GRCm39) |
C161S |
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 |
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 |
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'- TGGGTAGAGTGTACTTACTGCCC -3'
(R):5'- AGAAGTAGATGCCCTTCTGCG -3'
Sequencing Primer
(F):5'- GTAGAGTGTACTTACTGCCCTTAGC -3'
(R):5'- TGCCGTTCTGAATCACCA -3'
|
Posted On |
2022-10-06 |