Incidental Mutation 'R6798:Abcb1a'
ID |
533102 |
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 |
044911-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.193)
|
Stock # |
R6798 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 8782364 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 916
(Y916H)
|
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: Y916H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000041204 Gene: ENSMUSG00000040584 AA Change: Y916H
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: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.4%
|
Validation Efficiency |
97% (73/75) |
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: 74 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam11 |
A |
G |
11: 102,667,834 (GRCm39) |
I740V |
probably damaging |
Het |
Adam22 |
A |
T |
5: 8,210,784 (GRCm39) |
D161E |
probably damaging |
Het |
Agap3 |
A |
G |
5: 24,703,280 (GRCm39) |
|
probably null |
Het |
Ank2 |
T |
C |
3: 126,737,913 (GRCm39) |
|
probably benign |
Het |
Aspm |
T |
A |
1: 139,396,423 (GRCm39) |
H867Q |
possibly damaging |
Het |
Aurkaip1 |
T |
C |
4: 155,917,196 (GRCm39) |
|
probably null |
Het |
BC048507 |
A |
C |
13: 68,011,683 (GRCm39) |
D20A |
probably benign |
Het |
Cacna1a |
G |
A |
8: 85,338,231 (GRCm39) |
A1704T |
probably damaging |
Het |
Cep152 |
A |
C |
2: 125,408,447 (GRCm39) |
|
probably null |
Het |
Cep19 |
T |
C |
16: 31,922,867 (GRCm39) |
|
probably null |
Het |
Cfhr4 |
T |
C |
1: 139,625,859 (GRCm39) |
T813A |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,778,182 (GRCm39) |
E2731V |
possibly damaging |
Het |
Chrd |
T |
C |
16: 20,553,056 (GRCm39) |
L139P |
probably damaging |
Het |
Cit |
A |
G |
5: 116,064,585 (GRCm39) |
E489G |
possibly damaging |
Het |
Clcn7 |
A |
G |
17: 25,378,734 (GRCm39) |
N720D |
probably damaging |
Het |
Col6a3 |
T |
C |
1: 90,722,731 (GRCm39) |
|
probably null |
Het |
Dchs2 |
T |
A |
3: 83,255,593 (GRCm39) |
Y2430N |
probably damaging |
Het |
Dpy30 |
A |
G |
17: 74,614,751 (GRCm39) |
I64T |
probably damaging |
Het |
Eif2b3 |
G |
T |
4: 116,923,655 (GRCm39) |
W290L |
probably benign |
Het |
Epha6 |
T |
G |
16: 60,425,427 (GRCm39) |
E62A |
possibly damaging |
Het |
Epha6 |
C |
T |
16: 60,425,428 (GRCm39) |
E62K |
possibly damaging |
Het |
Epha8 |
C |
T |
4: 136,672,980 (GRCm39) |
R268Q |
probably benign |
Het |
Fbxw17 |
C |
A |
13: 50,587,300 (GRCm39) |
|
probably null |
Het |
Fndc8 |
C |
T |
11: 82,783,217 (GRCm39) |
T66I |
probably benign |
Het |
Frmpd1 |
A |
G |
4: 45,284,850 (GRCm39) |
T1224A |
probably benign |
Het |
Gcm2 |
T |
C |
13: 41,259,361 (GRCm39) |
D36G |
probably damaging |
Het |
Glt28d2 |
T |
C |
3: 85,779,296 (GRCm39) |
D59G |
probably benign |
Het |
Gorasp1 |
T |
C |
9: 119,758,663 (GRCm39) |
D243G |
probably benign |
Het |
Gtsf1l |
T |
C |
2: 162,929,391 (GRCm39) |
K31E |
probably benign |
Het |
Heatr5a |
A |
G |
12: 51,928,048 (GRCm39) |
V1816A |
probably benign |
Het |
Il10ra |
T |
C |
9: 45,167,730 (GRCm39) |
K274E |
probably damaging |
Het |
Il1rl2 |
T |
C |
1: 40,404,400 (GRCm39) |
I507T |
probably damaging |
Het |
Jak3 |
T |
G |
8: 72,133,615 (GRCm39) |
F408V |
probably damaging |
Het |
Kdm1b |
A |
G |
13: 47,222,012 (GRCm39) |
T484A |
probably benign |
Het |
Lama5 |
G |
A |
2: 179,833,455 (GRCm39) |
P1519L |
probably damaging |
Het |
Map9 |
T |
G |
3: 82,287,471 (GRCm39) |
L31W |
probably damaging |
Het |
Mical2 |
T |
C |
7: 111,975,266 (GRCm39) |
|
probably benign |
Het |
Mt1 |
A |
G |
8: 94,906,516 (GRCm39) |
|
probably benign |
Het |
Myo18b |
T |
C |
5: 112,909,252 (GRCm39) |
I1964V |
probably damaging |
Het |
Nalf1 |
G |
A |
8: 9,820,205 (GRCm39) |
Q272* |
probably null |
Het |
Nod1 |
A |
T |
6: 54,921,596 (GRCm39) |
C241S |
probably damaging |
Het |
Nrxn1 |
T |
A |
17: 90,937,378 (GRCm39) |
D685V |
probably damaging |
Het |
Oog1 |
A |
T |
12: 87,655,609 (GRCm39) |
|
probably null |
Het |
Or11a4 |
T |
G |
17: 37,536,697 (GRCm39) |
L227R |
probably damaging |
Het |
Or2ag13 |
T |
C |
7: 106,313,402 (GRCm39) |
Y162C |
probably damaging |
Het |
Or4k2 |
A |
G |
14: 50,424,584 (GRCm39) |
V30A |
probably benign |
Het |
Or56b1b |
T |
A |
7: 108,164,967 (GRCm39) |
K12* |
probably null |
Het |
P4htm |
T |
A |
9: 108,460,117 (GRCm39) |
N219I |
possibly damaging |
Het |
Pcif1 |
T |
C |
2: 164,727,711 (GRCm39) |
L168P |
possibly damaging |
Het |
Pde4dip |
A |
G |
3: 97,795,850 (GRCm39) |
V46A |
probably benign |
Het |
Pias1 |
T |
C |
9: 62,799,451 (GRCm39) |
T480A |
probably benign |
Het |
Prkd2 |
A |
T |
7: 16,583,128 (GRCm39) |
K297* |
probably null |
Het |
Prl7d1 |
T |
A |
13: 27,893,380 (GRCm39) |
|
probably null |
Het |
Pxdc1 |
G |
T |
13: 34,836,408 (GRCm39) |
A4E |
possibly damaging |
Het |
Rcor1 |
A |
G |
12: 111,006,320 (GRCm39) |
|
probably benign |
Het |
Rev3l |
A |
T |
10: 39,730,759 (GRCm39) |
D2761V |
probably damaging |
Het |
Scgb1b7 |
A |
G |
7: 31,412,406 (GRCm39) |
T61A |
probably damaging |
Het |
Sec14l2 |
A |
G |
11: 4,061,213 (GRCm39) |
Y83H |
probably damaging |
Het |
Setd4 |
C |
A |
16: 93,386,841 (GRCm39) |
V286F |
probably damaging |
Het |
Slc22a29 |
A |
G |
19: 8,137,968 (GRCm39) |
S536P |
probably benign |
Het |
Snx25 |
T |
C |
8: 46,486,810 (GRCm39) |
H977R |
probably damaging |
Het |
Spint5 |
T |
A |
2: 164,559,060 (GRCm39) |
C95* |
probably null |
Het |
Sprr5 |
G |
C |
3: 92,440,243 (GRCm39) |
C65W |
unknown |
Het |
Srgap1 |
T |
C |
10: 121,761,809 (GRCm39) |
D113G |
probably damaging |
Het |
Stxbp2 |
T |
A |
8: 3,691,180 (GRCm39) |
S476T |
probably benign |
Het |
Tg |
A |
G |
15: 66,550,688 (GRCm39) |
T273A |
probably damaging |
Het |
Tnc |
C |
T |
4: 63,883,841 (GRCm39) |
R1868H |
probably benign |
Het |
Trappc10 |
A |
G |
10: 78,024,665 (GRCm39) |
Y1155H |
probably benign |
Het |
Trpm2 |
T |
A |
10: 77,750,574 (GRCm39) |
N1341Y |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Zfand1 |
T |
G |
3: 10,411,236 (GRCm39) |
K67T |
probably benign |
Het |
Zfand4 |
A |
C |
6: 116,305,214 (GRCm39) |
K214Q |
probably benign |
Het |
Zfp653 |
A |
T |
9: 21,968,668 (GRCm39) |
V465E |
probably damaging |
Het |
Zswim8 |
A |
G |
14: 20,766,060 (GRCm39) |
Y782C |
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 |
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'- ATCATGACTTTGTGTCCCAGC -3'
(R):5'- GCTTCTGACTAAACTCAGGTCTC -3'
Sequencing Primer
(F):5'- CTCTTTCTGTCTAGAATGCAAGAC -3'
(R):5'- TCAGGTCTCTTCATTTATCTCTTGG -3'
|
Posted On |
2018-08-29 |