Incidental Mutation 'R9581:Abcb1a'
| ID |
722530 |
| 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 # |
R9581 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
8710077-8798575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 8790428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 1097
(I1097R)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000047753
AA Change: I1097R
PolyPhen 2
Score 0.661 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: I1097R
| 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: 99.0%
|
| 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 |
|---|
| Abcd4 |
A |
G |
12: 84,650,762 (GRCm39) |
S533P |
probably damaging |
Het |
| Adat1 |
C |
T |
8: 112,705,946 (GRCm39) |
V387I |
probably benign |
Het |
| Aff3 |
T |
A |
1: 38,249,266 (GRCm39) |
T614S |
probably benign |
Het |
| Aldh1a1 |
T |
A |
19: 20,597,417 (GRCm39) |
C133S |
probably benign |
Het |
| Ankrd12 |
A |
G |
17: 66,290,415 (GRCm39) |
S1673P |
probably damaging |
Het |
| Aox1 |
T |
A |
1: 58,370,055 (GRCm39) |
|
probably null |
Het |
| Arsi |
A |
G |
18: 61,050,160 (GRCm39) |
T348A |
probably damaging |
Het |
| Baz2b |
T |
C |
2: 59,799,300 (GRCm39) |
R275G |
probably benign |
Het |
| Cdh2 |
T |
A |
18: 16,803,112 (GRCm39) |
|
probably benign |
Het |
| Cela1 |
C |
T |
15: 100,573,261 (GRCm39) |
A243T |
probably benign |
Het |
| Cep192 |
G |
T |
18: 67,980,465 (GRCm39) |
V1409F |
probably damaging |
Het |
| Chia1 |
T |
C |
3: 106,035,879 (GRCm39) |
Y240H |
possibly damaging |
Het |
| Dact1 |
A |
T |
12: 71,365,619 (GRCm39) |
K763M |
probably damaging |
Het |
| Dip2b |
C |
A |
15: 100,079,255 (GRCm39) |
N822K |
probably damaging |
Het |
| Dnah12 |
C |
T |
14: 26,491,985 (GRCm39) |
T1140I |
probably damaging |
Het |
| Drc7 |
T |
C |
8: 95,785,782 (GRCm39) |
S213P |
probably damaging |
Het |
| Ell2 |
A |
G |
13: 75,912,148 (GRCm39) |
D478G |
probably benign |
Het |
| Evpl |
G |
A |
11: 116,120,660 (GRCm39) |
T483M |
probably benign |
Het |
| Farp1 |
A |
T |
14: 121,480,841 (GRCm39) |
E414V |
probably benign |
Het |
| Fbxl17 |
A |
G |
17: 63,806,525 (GRCm39) |
V163A |
probably benign |
Het |
| Foxn3 |
C |
T |
12: 99,163,035 (GRCm39) |
E289K |
probably damaging |
Het |
| Fscb |
T |
A |
12: 64,521,122 (GRCm39) |
I115F |
probably benign |
Het |
| Gm14496 |
A |
T |
2: 181,642,047 (GRCm39) |
T573S |
probably benign |
Het |
| Golga1 |
G |
T |
2: 38,909,573 (GRCm39) |
D677E |
probably damaging |
Het |
| Herc6 |
A |
T |
6: 57,635,101 (GRCm39) |
K772N |
probably damaging |
Het |
| Ikbkb |
T |
C |
8: 23,155,575 (GRCm39) |
D639G |
probably damaging |
Het |
| Lrrc61 |
G |
A |
6: 48,545,653 (GRCm39) |
V159I |
possibly damaging |
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mib1 |
A |
G |
18: 10,775,701 (GRCm39) |
D551G |
possibly damaging |
Het |
| Muc5ac |
G |
T |
7: 141,363,799 (GRCm39) |
R2370L |
unknown |
Het |
| Mybpc3 |
A |
G |
2: 90,949,616 (GRCm39) |
D53G |
probably benign |
Het |
| Myo9b |
C |
T |
8: 71,812,543 (GRCm39) |
P2105S |
probably benign |
Het |
| Naip5 |
G |
T |
13: 100,351,194 (GRCm39) |
H1271Q |
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Nmt2 |
T |
C |
2: 3,317,212 (GRCm39) |
V340A |
possibly damaging |
Het |
| Nos1 |
A |
G |
5: 118,043,459 (GRCm39) |
E578G |
probably damaging |
Het |
| Nox3 |
G |
A |
17: 3,700,328 (GRCm39) |
R462W |
possibly damaging |
Het |
| Or10h28 |
C |
A |
17: 33,487,995 (GRCm39) |
A99D |
probably damaging |
Het |
| Or52a20 |
A |
G |
7: 103,365,788 (GRCm39) |
|
probably benign |
Het |
| Pcdhgc4 |
A |
G |
18: 37,950,189 (GRCm39) |
Q535R |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,432,196 (GRCm39) |
D1473G |
probably benign |
Het |
| Pdilt |
A |
T |
7: 119,099,633 (GRCm39) |
F212I |
probably damaging |
Het |
| Ptk2b |
A |
T |
14: 66,450,789 (GRCm39) |
V59D |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,092,257 (GRCm39) |
D571G |
probably benign |
Het |
| Ptprq |
A |
T |
10: 107,547,771 (GRCm39) |
V209E |
possibly damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,125 (GRCm39) |
|
probably benign |
Het |
| Schip1 |
TCTGGCC |
TC |
3: 68,525,060 (GRCm39) |
|
probably null |
Het |
| Sec16a |
C |
T |
2: 26,328,647 (GRCm39) |
V142I |
|
Het |
| Slamf6 |
A |
G |
1: 171,761,897 (GRCm39) |
Y106C |
|
Het |
| Strc |
A |
G |
2: 121,207,928 (GRCm39) |
V481A |
probably damaging |
Het |
| Sulf1 |
A |
T |
1: 12,875,478 (GRCm39) |
I163F |
possibly damaging |
Het |
| Tjp1 |
A |
G |
7: 64,949,472 (GRCm39) |
S1637P |
probably damaging |
Het |
| Tlr9 |
A |
G |
9: 106,101,510 (GRCm39) |
E267G |
probably damaging |
Het |
| Tmem117 |
T |
A |
15: 94,992,268 (GRCm39) |
F309L |
probably benign |
Het |
| Tmtc4 |
T |
C |
14: 123,187,998 (GRCm39) |
N196S |
probably benign |
Het |
| Trim16 |
T |
A |
11: 62,727,557 (GRCm39) |
I293K |
probably damaging |
Het |
| Trim7 |
T |
C |
11: 48,738,887 (GRCm39) |
V95A |
probably damaging |
Het |
| Ttll6 |
A |
T |
11: 96,049,572 (GRCm39) |
K763N |
probably benign |
Het |
| Tut1 |
T |
C |
19: 8,941,981 (GRCm39) |
S483P |
probably benign |
Het |
| Zfp101 |
A |
T |
17: 33,605,730 (GRCm39) |
L26* |
probably null |
Het |
| Zfp106 |
C |
T |
2: 120,365,807 (GRCm39) |
R155K |
|
Het |
| Zfp518a |
T |
A |
19: 40,900,156 (GRCm39) |
D28E |
probably damaging |
Het |
| Zfp90 |
T |
A |
8: 107,151,714 (GRCm39) |
S476T |
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 |
|
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 |
|
|
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'- AATGACCCATAGCTCCAAGGG -3'
(R):5'- AACTGGTGGATGTTGGCCTC -3'
Sequencing Primer
(F):5'- CTTGTAAGTTCAGGCACAGC -3'
(R):5'- CCTTGGCTGCCCTCACAATC -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation