Mutagenetix > Incidental Mutation

Incidental Mutation 'R3709:Abcb1a'

259480

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

040702-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R3709 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8710077-8798575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 8788738 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1039 (N1039S)

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: N1039S

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: N1039S

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: ENSMUST00000138138

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199172

Meta Mutation Damage Score

0.1164

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

98% (50/51)

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
9930111J21Rik2	T	G	11: 48,910,480 (GRCm39)	D651A	probably damaging	Het
Abcc2	G	T	19: 43,786,885 (GRCm39)	V169F	possibly damaging	Het
Adcy8	T	C	15: 64,597,384 (GRCm39)		probably benign	Het
Aida	C	A	1: 183,085,610 (GRCm39)		probably null	Het
Armc8	A	G	9: 99,402,550 (GRCm39)	I333T	probably damaging	Het
B4galt3	C	A	1: 171,101,613 (GRCm39)	H196N	probably damaging	Het
Ccdc92b	C	A	11: 74,528,933 (GRCm39)	R146S	probably damaging	Het
Cdc42bpa	A	G	1: 179,892,628 (GRCm39)	D264G	probably damaging	Het
Cenpf	A	G	1: 189,381,009 (GRCm39)	S2804P	possibly damaging	Het
Cic	A	G	7: 24,986,406 (GRCm39)	D1276G	probably damaging	Het
Cldn19	T	C	4: 119,114,094 (GRCm39)	S79P	possibly damaging	Het
Ctdp1	G	A	18: 80,493,428 (GRCm39)	Q356*	probably null	Het
Cyp2c69	A	G	19: 39,839,667 (GRCm39)		probably benign	Het
Dhrs3	T	C	4: 144,620,281 (GRCm39)		probably null	Het
Fhod3	T	A	18: 25,223,815 (GRCm39)	W1054R	probably damaging	Het
Gfral	G	A	9: 76,100,725 (GRCm39)	R238*	probably null	Het
Gm10322	C	A	10: 59,451,941 (GRCm39)	D19E	possibly damaging	Het
Gprc6a	CAAA	CA	10: 51,491,776 (GRCm39)		probably null	Het
Idh3a	T	C	9: 54,493,810 (GRCm39)	S4P	possibly damaging	Het
Il15ra	G	T	2: 11,735,458 (GRCm39)		probably null	Het
Ipo8	A	T	6: 148,707,842 (GRCm39)		probably null	Het
Iqgap1	G	A	7: 80,366,835 (GRCm39)	T1595I	possibly damaging	Het
Kalrn	C	T	16: 34,212,400 (GRCm39)		probably null	Het
Klrb1a	T	C	6: 128,595,466 (GRCm39)	D96G	probably benign	Het
Lrp1b	C	T	2: 40,587,454 (GRCm39)	V165M	unknown	Het
Lrp4	A	C	2: 91,320,811 (GRCm39)	T975P	possibly damaging	Het
Lsm14a	T	A	7: 34,053,204 (GRCm39)	I283F	probably damaging	Het
Mael	T	C	1: 166,066,135 (GRCm39)	D34G	probably damaging	Het
Map2	C	T	1: 66,455,015 (GRCm39)	Q1302*	probably null	Het
Mctp1	T	C	13: 76,972,999 (GRCm39)		probably null	Het
Mlxip	T	C	5: 123,585,537 (GRCm39)	V642A	probably benign	Het
Myh9	T	C	15: 77,657,547 (GRCm39)	E1066G	possibly damaging	Het
Naa35	T	A	13: 59,765,846 (GRCm39)		probably benign	Het
Nacc1	T	A	8: 85,403,828 (GRCm39)	I16F	probably damaging	Het
Ncapd3	T	A	9: 26,963,645 (GRCm39)	N499K	probably benign	Het
Or10ab4	A	G	7: 107,655,004 (GRCm39)	M272V	possibly damaging	Het
Osbpl10	C	A	9: 115,036,655 (GRCm39)	P253Q	probably benign	Het
Ptpn21	G	T	12: 98,654,800 (GRCm39)	S722R	probably benign	Het
Rab44	C	T	17: 29,358,843 (GRCm39)	P344S	probably benign	Het
Rbms2	C	T	10: 127,979,312 (GRCm39)	R139Q	probably damaging	Het
Sh3bp2	T	C	5: 34,709,002 (GRCm39)	Y32H	probably damaging	Het
Slc6a15	A	G	10: 103,229,275 (GRCm39)	I105V	probably benign	Het
Thumpd3	A	G	6: 113,032,652 (GRCm39)	D130G	possibly damaging	Het
Trib1	A	G	15: 59,526,210 (GRCm39)	Y260C	probably damaging	Het
Tsks	G	T	7: 44,601,309 (GRCm39)	R208L	possibly damaging	Het
Ttn	G	T	2: 76,577,585 (GRCm39)	S22690*	probably null	Het
Ttyh2	T	G	11: 114,609,958 (GRCm39)	S510A	possibly damaging	Het
Was	G	T	X: 7,952,927 (GRCm39)	S271R	probably benign	Het
Zfp267	T	A	3: 36,213,725 (GRCm39)	C20S	possibly damaging	Het
Zfp472	T	A	17: 33,196,685 (GRCm39)	Y253*	probably null	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
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
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'- TGCTAAAGGTTACCCCAATCC -3'
(R):5'- CCTGAAATGTGCTCACCACTG -3'

Sequencing Primer
(F):5'- TCCAATAGCTGACTGTGAGC -3'
(R):5'- ATGTGCTCACCACTGATCCAG -3'

Posted On

2015-01-23