Incidental Mutation 'R5496:Abcb1a'
| ID |
432332 |
| 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 |
043057-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.193)
|
| Stock # |
R5496 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 8724818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 84
(V84I)
|
| 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: V84I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: V84I
| 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: ENSMUST00000197663
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.1%
- 20x: 90.2%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam10 |
T |
G |
9: 70,630,021 (GRCm39) |
F151C |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 53,187,436 (GRCm39) |
S1617G |
possibly damaging |
Het |
| Ano6 |
T |
A |
15: 95,865,495 (GRCm39) |
|
probably null |
Het |
| Atmin |
A |
G |
8: 117,683,911 (GRCm39) |
T524A |
probably benign |
Het |
| Bicra |
C |
T |
7: 15,721,766 (GRCm39) |
V584I |
probably benign |
Het |
| Carmil1 |
G |
A |
13: 24,339,433 (GRCm39) |
R54C |
probably damaging |
Het |
| Cbln1 |
A |
G |
8: 88,198,324 (GRCm39) |
I127T |
possibly damaging |
Het |
| Ccl26 |
A |
G |
5: 135,592,217 (GRCm39) |
V40A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 109,976,647 (GRCm39) |
I104N |
probably damaging |
Het |
| Cdt1 |
C |
T |
8: 123,297,239 (GRCm39) |
R311W |
probably damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,855 (GRCm39) |
I359T |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,509,467 (GRCm39) |
|
probably benign |
Het |
| Csf2rb |
A |
G |
15: 78,224,761 (GRCm39) |
E173G |
probably damaging |
Het |
| Cyb561 |
A |
G |
11: 105,828,545 (GRCm39) |
Y94H |
probably damaging |
Het |
| Cyp3a16 |
T |
A |
5: 145,404,341 (GRCm39) |
K34M |
probably damaging |
Het |
| Diras2 |
C |
T |
13: 52,661,786 (GRCm39) |
V174M |
probably benign |
Het |
| Dnah7a |
T |
G |
1: 53,496,927 (GRCm39) |
M3110L |
probably benign |
Het |
| Dyrk2 |
T |
C |
10: 118,695,956 (GRCm39) |
E434G |
probably damaging |
Het |
| Ebag9 |
T |
G |
15: 44,503,816 (GRCm39) |
*214E |
probably null |
Het |
| Egln3 |
A |
T |
12: 54,250,110 (GRCm39) |
W80R |
probably damaging |
Het |
| Eps15l1 |
A |
G |
8: 73,136,619 (GRCm39) |
Y336H |
probably benign |
Het |
| Gak |
A |
G |
5: 108,724,483 (GRCm39) |
S1076P |
probably benign |
Het |
| Glra1 |
T |
C |
11: 55,418,241 (GRCm39) |
Y168C |
probably damaging |
Het |
| Glrx2 |
T |
A |
1: 143,620,945 (GRCm39) |
M108K |
probably damaging |
Het |
| Gm3604 |
A |
T |
13: 62,519,393 (GRCm39) |
S59T |
possibly damaging |
Het |
| Gm8212 |
A |
T |
14: 44,438,614 (GRCm39) |
|
probably benign |
Het |
| Gmcl1 |
G |
T |
6: 86,674,507 (GRCm39) |
A457D |
probably damaging |
Het |
| H2-M11 |
T |
C |
17: 36,858,871 (GRCm39) |
F137S |
possibly damaging |
Het |
| Ighv1-55 |
C |
G |
12: 115,172,140 (GRCm39) |
W3S |
probably damaging |
Het |
| Il22 |
T |
G |
10: 118,041,002 (GRCm39) |
V36G |
possibly damaging |
Het |
| Ints1 |
G |
A |
5: 139,740,953 (GRCm39) |
A1904V |
probably benign |
Het |
| Iqgap2 |
A |
G |
13: 95,766,561 (GRCm39) |
Y1481H |
probably damaging |
Het |
| Kcnn3 |
C |
T |
3: 89,516,797 (GRCm39) |
A402V |
possibly damaging |
Het |
| Kif18b |
A |
T |
11: 102,804,568 (GRCm39) |
I362N |
possibly damaging |
Het |
| Kif5c |
C |
G |
2: 49,620,202 (GRCm39) |
A223G |
possibly damaging |
Het |
| Kntc1 |
A |
G |
5: 123,922,245 (GRCm39) |
D948G |
probably benign |
Het |
| Krba1 |
A |
G |
6: 48,383,290 (GRCm39) |
T229A |
possibly damaging |
Het |
| Leprot |
T |
A |
4: 101,515,093 (GRCm39) |
I113N |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 40,817,985 (GRCm39) |
D2415G |
probably benign |
Het |
| Mnd1 |
T |
A |
3: 83,995,481 (GRCm39) |
D171V |
probably damaging |
Het |
| Mthfsd |
A |
T |
8: 121,825,553 (GRCm39) |
Y339* |
probably null |
Het |
| Nfatc2 |
G |
A |
2: 168,378,198 (GRCm39) |
T268M |
probably damaging |
Het |
| Or14j10 |
T |
C |
17: 37,935,469 (GRCm39) |
D19G |
probably benign |
Het |
| Or52d3 |
G |
C |
7: 104,229,701 (GRCm39) |
A283P |
probably damaging |
Het |
| Or8h7 |
G |
T |
2: 86,720,658 (GRCm39) |
P287Q |
probably damaging |
Het |
| Or8h7 |
G |
C |
2: 86,720,659 (GRCm39) |
P287A |
probably damaging |
Het |
| Pan3 |
G |
A |
5: 147,463,938 (GRCm39) |
|
probably null |
Het |
| Pde6a |
A |
T |
18: 61,386,736 (GRCm39) |
|
probably null |
Het |
| Prss39 |
T |
C |
1: 34,539,342 (GRCm39) |
I194T |
possibly damaging |
Het |
| Rfx8 |
T |
C |
1: 39,709,507 (GRCm39) |
S507G |
probably benign |
Het |
| Rif1 |
T |
C |
2: 51,988,928 (GRCm39) |
S774P |
probably damaging |
Het |
| Sh3bp5 |
C |
A |
14: 31,099,452 (GRCm39) |
R265L |
probably benign |
Het |
| Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
| Smurf1 |
C |
A |
5: 144,819,403 (GRCm39) |
E601* |
probably null |
Het |
| Stau2 |
T |
C |
1: 16,460,245 (GRCm39) |
S231G |
probably damaging |
Het |
| Timp2 |
T |
G |
11: 118,194,707 (GRCm39) |
M161L |
probably benign |
Het |
| Tlr5 |
T |
C |
1: 182,801,197 (GRCm39) |
L167P |
probably damaging |
Het |
| Trhr |
G |
A |
15: 44,060,932 (GRCm39) |
A151T |
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,957,534 (GRCm39) |
V807A |
probably damaging |
Het |
| Usp2 |
T |
C |
9: 43,996,505 (GRCm39) |
V7A |
possibly damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,589 (GRCm39) |
T447A |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,434,607 (GRCm39) |
I2232T |
unknown |
Het |
| Zfp12 |
C |
A |
5: 143,230,550 (GRCm39) |
C292* |
probably null |
Het |
| Zfp850 |
A |
C |
7: 27,706,771 (GRCm39) |
M43R |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,696,755 (GRCm39) |
T620M |
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 |
|
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'- GACTAGTAGCTAGCAGTCTGGC -3'
(R):5'- TTCTCAAGTTCACTACAAGGGTG -3'
Sequencing Primer
(F):5'- CCATGAAACTATCTGATGTCCATGG -3'
(R):5'- GGTGAACTAGAATGTACAGCACCC -3'
|
| Posted On |
2016-10-05 |
Incidental Mutation