Incidental Mutation 'R9114:Abcb1a'
| ID |
692399 |
| 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 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.172)
|
| Stock # |
R9114 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 8788702 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 1027
(L1027*)
|
| 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
AA Change: L1027*
|
| SMART Domains |
Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: L1027*
| 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: 99.6%
- 20x: 98.5%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl11 |
T |
A |
9: 107,808,509 (GRCm39) |
M944K |
possibly damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,906,427 (GRCm39) |
K491E |
probably damaging |
Het |
| Ahr |
A |
T |
12: 35,561,164 (GRCm39) |
D150E |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,607,304 (GRCm39) |
L17Q |
probably damaging |
Het |
| Bysl |
A |
G |
17: 47,915,242 (GRCm39) |
S169P |
|
Het |
| C4b |
A |
T |
17: 34,948,404 (GRCm39) |
F1610I |
probably damaging |
Het |
| Chtf8 |
C |
A |
8: 107,612,481 (GRCm39) |
A153S |
probably benign |
Het |
| Ciapin1 |
C |
T |
8: 95,558,400 (GRCm39) |
|
probably null |
Het |
| Cnnm1 |
A |
G |
19: 43,429,395 (GRCm39) |
E171G |
possibly damaging |
Het |
| Crybb3 |
T |
C |
5: 113,225,407 (GRCm39) |
N155S |
probably benign |
Het |
| Dclk3 |
T |
A |
9: 111,317,683 (GRCm39) |
M773K |
probably benign |
Het |
| Ddx18 |
A |
T |
1: 121,489,267 (GRCm39) |
V260D |
probably damaging |
Het |
| Dmxl2 |
T |
A |
9: 54,307,321 (GRCm39) |
N2216Y |
|
Het |
| Epn2 |
T |
C |
11: 61,437,446 (GRCm39) |
E42G |
probably damaging |
Het |
| Esrrg |
C |
A |
1: 187,878,605 (GRCm39) |
P229T |
probably benign |
Het |
| Esrrg |
C |
A |
1: 187,878,606 (GRCm39) |
P229Q |
possibly damaging |
Het |
| Ethe1 |
G |
T |
7: 24,305,643 (GRCm39) |
R130L |
probably benign |
Het |
| Fgl2 |
G |
A |
5: 21,580,363 (GRCm39) |
C235Y |
probably damaging |
Het |
| Fmnl1 |
C |
T |
11: 103,087,327 (GRCm39) |
T890M |
unknown |
Het |
| Fsip2 |
C |
G |
2: 82,807,301 (GRCm39) |
P1207A |
probably benign |
Het |
| Gc |
C |
T |
5: 89,593,165 (GRCm39) |
D85N |
possibly damaging |
Het |
| Gfi1 |
G |
A |
5: 107,869,370 (GRCm39) |
R287W |
probably damaging |
Het |
| Gm3629 |
T |
C |
14: 17,834,566 (GRCm39) |
|
probably null |
Het |
| Hapln3 |
A |
G |
7: 78,771,712 (GRCm39) |
F59S |
probably benign |
Het |
| Il24 |
G |
A |
1: 130,813,483 (GRCm39) |
T38I |
possibly damaging |
Het |
| Izumo1 |
A |
G |
7: 45,276,583 (GRCm39) |
D382G |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,382,887 (GRCm39) |
Y739* |
probably null |
Het |
| Kif2b |
T |
A |
11: 91,466,538 (GRCm39) |
I582F |
possibly damaging |
Het |
| Klhdc1 |
A |
G |
12: 69,288,783 (GRCm39) |
Y31C |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,128,669 (GRCm39) |
E3009K |
|
Het |
| Mad2l1bp |
G |
A |
17: 46,458,958 (GRCm39) |
R191C |
probably damaging |
Het |
| Mark1 |
A |
C |
1: 184,644,261 (GRCm39) |
S468A |
probably damaging |
Het |
| Mknk2 |
T |
A |
10: 80,504,823 (GRCm39) |
N236Y |
probably damaging |
Het |
| Muc2 |
T |
A |
7: 141,287,983 (GRCm39) |
C251* |
probably null |
Het |
| Nacad |
T |
C |
11: 6,552,252 (GRCm39) |
D313G |
probably damaging |
Het |
| Neb |
G |
T |
2: 52,099,599 (GRCm39) |
D4750E |
probably benign |
Het |
| Nlrp6 |
T |
C |
7: 140,506,332 (GRCm39) |
S758P |
probably damaging |
Het |
| Nxt2 |
C |
T |
X: 141,020,747 (GRCm39) |
A118V |
possibly damaging |
Het |
| Or13a28 |
A |
C |
7: 140,218,282 (GRCm39) |
I223L |
probably benign |
Het |
| Or51b4 |
T |
C |
7: 103,530,569 (GRCm39) |
T294A |
possibly damaging |
Het |
| Or8b3b |
A |
G |
9: 38,583,892 (GRCm39) |
F283L |
probably benign |
Het |
| Oxtr |
A |
G |
6: 112,466,481 (GRCm39) |
V93A |
probably damaging |
Het |
| Pbx3 |
C |
A |
2: 34,103,271 (GRCm39) |
D234Y |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,459,826 (GRCm39) |
T554S |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,015,955 (GRCm39) |
Y151N |
probably damaging |
Het |
| Plcd4 |
A |
G |
1: 74,591,307 (GRCm39) |
E234G |
possibly damaging |
Het |
| Pou6f1 |
A |
G |
15: 100,478,789 (GRCm39) |
V373A |
probably benign |
Het |
| Ppp1r12c |
T |
C |
7: 4,485,792 (GRCm39) |
K685E |
possibly damaging |
Het |
| Rnf34 |
T |
A |
5: 122,999,957 (GRCm39) |
V71D |
probably damaging |
Het |
| Rpap2 |
T |
G |
5: 107,746,156 (GRCm39) |
H11Q |
possibly damaging |
Het |
| Skint2 |
A |
G |
4: 112,496,834 (GRCm39) |
T247A |
probably benign |
Het |
| Stat5b |
T |
A |
11: 100,692,350 (GRCm39) |
N145Y |
probably damaging |
Het |
| Sv2b |
A |
G |
7: 74,856,017 (GRCm39) |
L91P |
probably damaging |
Het |
| Syt1 |
A |
G |
10: 108,340,376 (GRCm39) |
I314T |
probably damaging |
Het |
| Tlk1 |
A |
T |
2: 70,572,502 (GRCm39) |
N355K |
probably benign |
Het |
| Tnc |
C |
A |
4: 63,890,973 (GRCm39) |
M1636I |
probably benign |
Het |
| Trank1 |
C |
A |
9: 111,162,843 (GRCm39) |
A34D |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,719,665 (GRCm39) |
I1001T |
probably benign |
Het |
| Vdr |
T |
C |
15: 97,765,136 (GRCm39) |
D201G |
probably benign |
Het |
| Vmn2r115 |
A |
T |
17: 23,564,307 (GRCm39) |
I160L |
probably benign |
Het |
| Wdr81 |
C |
A |
11: 75,335,250 (GRCm39) |
R1772L |
probably damaging |
Het |
| Zfp457 |
T |
C |
13: 67,442,068 (GRCm39) |
D169G |
probably benign |
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 |
|
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'- GTGCTAAAGGTTACCCCAATCCAC -3'
(R):5'- TCACCACTGATCCAGCCATG -3'
Sequencing Primer
(F):5'- GATCCATCCAATAGCTGACTGTGAG -3'
(R):5'- ATGGGGTCGTAGAAGCGCTC -3'
|
| Posted On |
2021-12-30 |
Incidental Mutation