Incidental Mutation 'R4935:Abcb1a'
ID |
380294 |
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 |
042535-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.172)
|
Stock # |
R4935 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to A
at 8787773 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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126846
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138138
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199172
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.8%
- 20x: 86.9%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730071L15Rik |
A |
G |
11: 6,150,442 (GRCm39) |
*138W |
probably null |
Het |
Acp6 |
T |
C |
3: 97,079,060 (GRCm39) |
|
probably null |
Het |
Adcyap1 |
A |
T |
17: 93,511,541 (GRCm39) |
I172L |
probably benign |
Het |
Adgrf1 |
A |
C |
17: 43,606,130 (GRCm39) |
I85L |
probably benign |
Het |
Afdn |
A |
T |
17: 14,111,228 (GRCm39) |
T1604S |
probably benign |
Het |
Angpt2 |
T |
C |
8: 18,742,131 (GRCm39) |
Y475C |
probably damaging |
Het |
Ank2 |
A |
G |
3: 126,749,713 (GRCm39) |
S439P |
probably damaging |
Het |
Ank3 |
T |
A |
10: 69,812,033 (GRCm39) |
N366K |
probably damaging |
Het |
Ankrd11 |
A |
G |
8: 123,626,922 (GRCm39) |
S87P |
probably benign |
Het |
Ano7 |
T |
A |
1: 93,323,036 (GRCm39) |
S459T |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,656,369 (GRCm39) |
V1460M |
probably benign |
Het |
Atg16l1 |
A |
C |
1: 87,694,764 (GRCm39) |
N147T |
possibly damaging |
Het |
Atp10a |
T |
C |
7: 58,463,512 (GRCm39) |
V1015A |
probably damaging |
Het |
Atxn7 |
T |
A |
14: 14,100,401 (GRCm38) |
S696T |
probably benign |
Het |
Babam1 |
C |
T |
8: 71,852,446 (GRCm39) |
T184I |
probably benign |
Het |
Blk |
A |
G |
14: 63,618,711 (GRCm39) |
S175P |
possibly damaging |
Het |
Col5a1 |
T |
A |
2: 27,914,754 (GRCm39) |
F123L |
probably damaging |
Het |
Csmd3 |
T |
C |
15: 48,024,480 (GRCm39) |
Y496C |
probably damaging |
Het |
Dnah3 |
A |
T |
7: 119,615,700 (GRCm39) |
Y1676* |
probably null |
Het |
Fdxacb1 |
T |
A |
9: 50,683,243 (GRCm39) |
M402K |
probably benign |
Het |
Frmd5 |
A |
G |
2: 121,393,405 (GRCm39) |
V141A |
possibly damaging |
Het |
Gapvd1 |
G |
A |
2: 34,594,504 (GRCm39) |
R685* |
probably null |
Het |
Grik2 |
A |
G |
10: 49,116,826 (GRCm39) |
L645P |
probably damaging |
Het |
H2aj |
T |
A |
6: 136,785,681 (GRCm39) |
V115E |
possibly damaging |
Het |
Hrh3 |
T |
C |
2: 179,743,061 (GRCm39) |
Y189C |
probably damaging |
Het |
Kcnc2 |
A |
G |
10: 112,108,133 (GRCm39) |
T175A |
probably benign |
Het |
Kcnv2 |
A |
G |
19: 27,300,332 (GRCm39) |
Y61C |
probably damaging |
Het |
Kif24 |
T |
C |
4: 41,394,939 (GRCm39) |
R645G |
probably damaging |
Het |
Knl1 |
A |
G |
2: 118,899,438 (GRCm39) |
I380V |
possibly damaging |
Het |
Lamb2 |
A |
G |
9: 108,364,700 (GRCm39) |
I1151M |
possibly damaging |
Het |
Leo1 |
A |
G |
9: 75,353,159 (GRCm39) |
D234G |
probably benign |
Het |
Lrp1b |
T |
G |
2: 41,388,405 (GRCm39) |
N407H |
probably benign |
Het |
Matn2 |
T |
C |
15: 34,428,831 (GRCm39) |
S732P |
probably damaging |
Het |
Mrps30 |
A |
T |
13: 118,523,431 (GRCm39) |
F114I |
possibly damaging |
Het |
Or1l8 |
T |
C |
2: 36,817,713 (GRCm39) |
N138D |
probably benign |
Het |
Or4f17-ps1 |
G |
A |
2: 111,357,793 (GRCm39) |
V45I |
probably damaging |
Het |
Or5b123 |
T |
C |
19: 13,597,066 (GRCm39) |
I180T |
probably benign |
Het |
Oxr1 |
T |
C |
15: 41,676,980 (GRCm39) |
V179A |
probably benign |
Het |
Plaur |
A |
T |
7: 24,166,141 (GRCm39) |
S71C |
possibly damaging |
Het |
Plbd2 |
T |
C |
5: 120,624,786 (GRCm39) |
N461D |
possibly damaging |
Het |
Plcb2 |
T |
A |
2: 118,549,396 (GRCm39) |
Y322F |
probably damaging |
Het |
Prkab2 |
T |
C |
3: 97,569,671 (GRCm39) |
V79A |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,197,568 (GRCm39) |
C774S |
probably damaging |
Het |
Ring1 |
A |
C |
17: 34,242,016 (GRCm39) |
L131R |
probably benign |
Het |
Rxfp2 |
G |
A |
5: 149,975,097 (GRCm39) |
|
probably null |
Het |
Selenbp1 |
A |
T |
3: 94,845,269 (GRCm39) |
I122F |
probably benign |
Het |
Septin7 |
A |
G |
9: 25,217,468 (GRCm39) |
H394R |
probably benign |
Het |
Slc1a7 |
G |
A |
4: 107,864,758 (GRCm39) |
V266I |
probably damaging |
Het |
Slc2a10 |
A |
G |
2: 165,359,578 (GRCm39) |
T481A |
probably benign |
Het |
Spmap2l |
T |
C |
5: 77,185,200 (GRCm39) |
|
probably null |
Het |
Tapbp |
A |
G |
17: 34,144,596 (GRCm39) |
M231V |
probably benign |
Het |
Tbxas1 |
A |
T |
6: 38,999,981 (GRCm39) |
N256I |
probably benign |
Het |
Uimc1 |
A |
G |
13: 55,240,998 (GRCm39) |
I30T |
probably damaging |
Het |
Usp48 |
C |
A |
4: 137,377,669 (GRCm39) |
N231K |
probably benign |
Het |
Zfhx3 |
T |
G |
8: 109,674,482 (GRCm39) |
V1844G |
possibly damaging |
Het |
Znrf3 |
A |
T |
11: 5,233,422 (GRCm39) |
C212S |
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 |
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 |
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'- GCCACATTGTTAACGTTGTAGC -3'
(R):5'- GTCAATAGTCATATCTCCCTGTAACTG -3'
Sequencing Primer
(F):5'- ACGTTGTAGCTATCACACACTG -3'
(R):5'- TCTCCCTGTAACTGTTTTATGAAAG -3'
|
Posted On |
2016-04-15 |