Mutagenetix > Incidental Mutation

Incidental Mutation 'R4463:Abcb1a'

330217

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

041721-MU

Accession Numbers

Essential gene?

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

Stock #

R4463 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8710077-8798575 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 8769981 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

Predicted Effect

probably benign
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: ENSMUST00000145232

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (57/57)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,756,005 (GRCm39)		probably null	Het
Alox12e	A	G	11: 70,209,082 (GRCm39)	L388P	probably damaging	Het
Aspm	T	A	1: 139,382,748 (GRCm39)	S27T	possibly damaging	Het
Capn2	G	A	1: 182,307,329 (GRCm39)		probably benign	Het
Catspere1	G	A	1: 177,765,279 (GRCm39)		noncoding transcript	Het
Ccdc158	T	C	5: 92,782,159 (GRCm39)	D820G	probably null	Het
Cdkn2d	C	G	9: 21,202,185 (GRCm39)	V21L	probably benign	Het
Chd9	T	A	8: 91,705,627 (GRCm39)	D761E	probably benign	Het
Chst8	T	C	7: 34,374,645 (GRCm39)	D398G	probably damaging	Het
Clns1a	T	C	7: 97,370,156 (GRCm39)		probably benign	Het
Cyp3a57	A	T	5: 145,318,084 (GRCm39)	Y355F	probably damaging	Het
Cyp4f37	A	G	17: 32,846,710 (GRCm39)		probably null	Het
Eif1ad11	A	G	12: 87,994,129 (GRCm39)	D119G	probably benign	Het
Eipr1	G	A	12: 28,909,338 (GRCm39)	A202T	probably damaging	Het
Fam83a	T	C	15: 57,858,655 (GRCm39)	S232P	probably damaging	Het
Fastkd2	C	T	1: 63,774,968 (GRCm39)		probably benign	Het
Fcgbpl1	A	G	7: 27,850,144 (GRCm39)	M1197V	probably benign	Het
Fgfr4	G	A	13: 55,304,280 (GRCm39)	V107I	probably benign	Het
Gatad1	G	T	5: 3,697,404 (GRCm39)	S72R	probably benign	Het
Gli2	T	C	1: 118,763,738 (GRCm39)	D1471G	probably damaging	Het
Gm1330	A	T	2: 148,845,064 (GRCm39)	Y36*	probably null	Het
Gm29125	T	C	1: 80,360,903 (GRCm39)		noncoding transcript	Het
Idi1	G	A	13: 8,937,508 (GRCm39)		probably benign	Het
Itgbl1	C	T	14: 124,078,080 (GRCm39)	T190I	probably damaging	Het
Kbtbd3	G	A	9: 4,331,257 (GRCm39)	G544R	probably damaging	Het
Kifc3	T	C	8: 95,828,744 (GRCm39)	T638A	probably damaging	Het
Lama1	G	A	17: 68,068,695 (GRCm39)	C798Y	probably damaging	Het
Larp6	C	A	9: 60,644,279 (GRCm39)	H140N	probably damaging	Het
Mctp1	A	T	13: 76,860,206 (GRCm39)	D108V	probably damaging	Het
Myzap	G	T	9: 71,462,933 (GRCm39)	D204E	probably benign	Het
Neb	GCC	GC	2: 52,169,734 (GRCm39)		probably null	Het
Or13p8	T	C	4: 118,583,855 (GRCm39)	V137A	probably benign	Het
Or1j20	T	C	2: 36,760,205 (GRCm39)	I209T	probably benign	Het
Or4c102	T	C	2: 88,422,976 (GRCm39)	V276A	possibly damaging	Het
Phka1	A	G	X: 101,588,990 (GRCm39)	V818A	probably benign	Het
Plek	T	C	11: 16,931,873 (GRCm39)	Y326C	possibly damaging	Het
Pp2d1	A	G	17: 53,822,886 (GRCm39)	I60T	probably benign	Het
Prmt3	T	C	7: 49,467,837 (GRCm39)	Y348H	probably damaging	Het
Psg27	G	T	7: 18,291,010 (GRCm39)	Q398K	possibly damaging	Het
Raver1	T	C	9: 21,003,123 (GRCm39)	T51A	probably benign	Het
Ripk2	T	C	4: 16,151,968 (GRCm39)	N197S	possibly damaging	Het
Sectm1a	T	A	11: 120,960,477 (GRCm39)	I113L	probably benign	Het
Slc2a4	G	A	11: 69,834,148 (GRCm39)		probably benign	Het
Snph	A	T	2: 151,436,035 (GRCm39)	S229T	probably damaging	Het
Stpg4	A	G	17: 87,697,101 (GRCm39)	F183L	probably benign	Het
Tango6	A	T	8: 107,415,706 (GRCm39)	T176S	probably benign	Het
Vmn1r196	A	G	13: 22,477,853 (GRCm39)	Q164R	probably benign	Het
Vstm4	T	A	14: 32,639,833 (GRCm39)	L236Q	probably damaging	Het
Xylb	A	G	9: 119,215,433 (GRCm39)	D462G	probably benign	Het
Zc2hc1c	A	G	12: 85,337,071 (GRCm39)	R243G	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
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
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'- CCAAGTCTGAGTCAGCCATG -3'
(R):5'- CCTGAATGCCTACAACCTGTG -3'

Sequencing Primer
(F):5'- CATGAAGGATCCATGCATTTCC -3'
(R):5'- TGAATGCCTACAACCTGTGTCCATAG -3'

Posted On

2015-07-21