Mutagenetix > Incidental Mutation

Incidental Mutation 'R5181:Abcb1a'

397541

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

042761-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.193) question?

Stock #

R5181 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8710077-8798575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 8764937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 642 (D642E)

Ref Sequence

ENSEMBL: ENSMUSP00000041204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047753]

AlphaFold

P21447

PDB Structure

Predicted Effect

probably benign
Transcript: ENSMUST00000047753
AA Change: D642E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: D642E

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: ENSMUST00000145232

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (54/54)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	T	C	9: 69,383,347 (GRCm39)	V54A	probably benign	Het
Ccnb1	C	G	13: 100,918,283 (GRCm39)	Q121H	possibly damaging	Het
Cdca2	A	G	14: 67,917,614 (GRCm39)	S595P	probably damaging	Het
Cenpe	G	A	3: 134,948,064 (GRCm39)	E1208K	probably damaging	Het
Cfh	T	C	1: 140,075,384 (GRCm39)		probably benign	Het
Colq	T	A	14: 31,279,799 (GRCm39)	H9L	probably benign	Het
Coq8b	T	C	7: 26,951,747 (GRCm39)	I403T	possibly damaging	Het
Cyrib	T	A	15: 63,810,526 (GRCm39)	M234L	probably damaging	Het
Dcdc2a	C	A	13: 25,386,347 (GRCm39)	T407K	possibly damaging	Het
Dennd2b	T	C	7: 109,155,997 (GRCm39)	Y251C	probably benign	Het
Gask1b	A	T	3: 79,793,618 (GRCm39)	S29C	probably benign	Het
Grhl3	T	A	4: 135,286,415 (GRCm39)	K89*	probably null	Het
Inpp5f	A	G	7: 128,281,555 (GRCm39)	T519A	probably damaging	Het
Isl2	G	T	9: 55,449,561 (GRCm39)	R79L	probably benign	Het
Kif9	T	A	9: 110,350,336 (GRCm39)	D742E	probably damaging	Het
Lgi2	T	A	5: 52,711,792 (GRCm39)	K176M	probably damaging	Het
Lin9	T	A	1: 180,496,763 (GRCm39)	L351I	probably benign	Het
Lrch4	A	G	5: 137,627,665 (GRCm39)	D66G	probably damaging	Het
Milr1	G	A	11: 106,645,806 (GRCm39)	G116D	probably damaging	Het
Myof	T	C	19: 37,921,071 (GRCm39)	D1397G	possibly damaging	Het
Neurod2	T	C	11: 98,218,204 (GRCm39)	H320R	probably benign	Het
Nox3	A	T	17: 3,685,561 (GRCm39)	Y562*	probably null	Het
Nrap	G	A	19: 56,333,960 (GRCm39)	H884Y	possibly damaging	Het
Odad4	G	A	11: 100,440,719 (GRCm39)	D67N	probably damaging	Het
Pde3a	T	C	6: 141,426,981 (GRCm39)		probably null	Het
Pgm2l1	G	A	7: 99,910,965 (GRCm39)	C303Y	probably benign	Het
Phip	A	G	9: 82,753,243 (GRCm39)		probably benign	Het
Plxna4	A	G	6: 32,493,932 (GRCm39)	I228T	probably damaging	Het
Prdm2	A	G	4: 142,861,536 (GRCm39)	S585P	probably benign	Het
Prpf6	T	C	2: 181,291,339 (GRCm39)	I718T	probably damaging	Het
Rpp40	T	C	13: 36,080,695 (GRCm39)		probably null	Het
Skic2	T	C	17: 35,063,802 (GRCm39)	D547G	probably benign	Het
Slc22a22	T	A	15: 57,118,519 (GRCm39)	Y264F	probably benign	Het
Slc5a4b	A	T	10: 75,896,221 (GRCm39)	L578*	probably null	Het
Sptan1	A	T	2: 29,883,736 (GRCm39)		probably benign	Het
Sult2a4	T	G	7: 13,722,316 (GRCm39)	I50L	probably benign	Het
Taar6	T	C	10: 23,860,683 (GRCm39)	T288A	possibly damaging	Het
Tmem71	C	T	15: 66,427,063 (GRCm39)	S44N	probably benign	Het
Tmem98	T	C	11: 80,710,758 (GRCm39)	V139A	probably damaging	Het
Triobp	T	C	15: 78,851,954 (GRCm39)	Y703H	probably benign	Het
Ttc34	A	G	4: 154,946,703 (GRCm39)	T868A	probably benign	Het
Ttn	C	T	2: 76,665,225 (GRCm39)		probably benign	Het
Vipas39	A	T	12: 87,286,601 (GRCm39)	W470R	probably damaging	Het
Vmn2r102	T	C	17: 19,897,003 (GRCm39)	Y117H	probably benign	Het
Vmn2r111	T	C	17: 22,790,001 (GRCm39)	N335S	possibly damaging	Het
Vmn2r70	A	G	7: 85,208,387 (GRCm39)	Y697H	probably damaging	Het
Wnk4	C	A	11: 101,156,203 (GRCm39)	R461S	probably damaging	Het
Xylb	T	A	9: 119,193,567 (GRCm39)	L87Q	probably damaging	Het
Zcchc9	T	A	13: 91,945,281 (GRCm39)	K101*	probably null	Het
Zfp503	C	A	14: 22,035,705 (GRCm39)	A404S	probably benign	Het
Zhx1	C	G	15: 57,917,470 (GRCm39)	G259R	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
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'- TCCCAACATGTGACACAAGATG -3'
(R):5'- AGAGTTCCCACGTCTTCTTCAG -3'

Sequencing Primer
(F):5'- CACCCCTTTCTTTGATTTAAGTAA -3'
(R):5'- CTAGCCACACTCAGGTAGGAG -3'

Posted On

2016-07-06