Mutagenetix > Incidental Mutation

Incidental Mutation 'R5895:Abcb1a'

457439

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) question?

Stock #

R5895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

8710077-8798575 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 8752216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Serine at position 426 (G426S)

Ref Sequence

ENSEMBL: ENSMUSP00000041204 (fasta)

Gene Model

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

AlphaFold

P21447

PDB Structure

Predicted Effect

probably damaging
Transcript: ENSMUST00000047753
AA Change: G426S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041204
Gene: ENSMUSG00000040584
AA Change: G426S

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

Meta Mutation Damage Score

0.9505

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.7%

Validation Efficiency

98% (64/65)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Casp4	A	T	9: 5,328,573 (GRCm39)		probably benign	Het
Ccdc40	T	A	11: 119,144,229 (GRCm39)	F988Y	probably damaging	Het
Ccdc9b	T	C	2: 118,590,098 (GRCm39)	T249A	probably benign	Het
Chd5	T	A	4: 152,464,389 (GRCm39)	V1516E	probably benign	Het
Chrnd	T	A	1: 87,123,389 (GRCm39)		probably null	Het
Col5a3	C	A	9: 20,683,738 (GRCm39)	G1506V	unknown	Het
Csgalnact2	A	T	6: 118,106,215 (GRCm39)	C34*	probably null	Het
Ddx23	T	C	15: 98,549,832 (GRCm39)	K195E	probably benign	Het
Dhps	T	G	8: 85,800,880 (GRCm39)	S240A	probably benign	Het
Dnah5	T	A	15: 28,234,599 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,514,676 (GRCm39)	T1414A	probably benign	Het
Dock4	A	G	12: 40,805,812 (GRCm39)	D928G	probably damaging	Het
Dolpp1	T	C	2: 30,285,658 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,028,601 (GRCm39)	I830F	probably damaging	Het
Elmod1	C	T	9: 53,843,091 (GRCm39)	R29Q	probably damaging	Het
Ephx4	T	A	5: 107,577,518 (GRCm39)		probably null	Het
Evi5	A	T	5: 107,968,302 (GRCm39)	M215K	probably damaging	Het
Fbxl4	T	C	4: 22,390,678 (GRCm39)	L287P	probably damaging	Het
Gbp9	G	A	5: 105,230,724 (GRCm39)	S400L	probably damaging	Het
Gm6291	T	C	18: 6,371,365 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,688,596 (GRCm39)	D301E	probably benign	Het
Gna14	C	T	19: 16,580,692 (GRCm39)	R177C	possibly damaging	Het
Golph3	C	T	15: 12,339,756 (GRCm39)	R90C	probably damaging	Het
Gpr142	T	A	11: 114,689,785 (GRCm39)	C12*	probably null	Het
Hat1	T	A	2: 71,239,357 (GRCm39)	N43K	possibly damaging	Het
Hivep1	A	T	13: 42,310,694 (GRCm39)	E978V	possibly damaging	Het
Hormad1	G	A	3: 95,467,044 (GRCm39)		probably null	Het
Kalrn	C	T	16: 33,795,805 (GRCm39)		probably benign	Het
Mars1	T	C	10: 127,132,418 (GRCm39)	T860A	probably benign	Het
Mdn1	A	T	4: 32,695,400 (GRCm39)	L1146F	probably damaging	Het
Met	A	G	6: 17,531,581 (GRCm39)	T620A	probably benign	Het
Mppe1	T	C	18: 67,358,834 (GRCm39)	E378G	probably benign	Het
Mybpc3	T	A	2: 90,955,010 (GRCm39)	V481D	probably damaging	Het
Myh14	A	T	7: 44,256,133 (GRCm39)	L1924Q	probably damaging	Het
Mylip	G	T	13: 45,562,178 (GRCm39)	E327*	probably null	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Naip6	A	G	13: 100,452,500 (GRCm39)	V187A	possibly damaging	Het
Ncam1	T	A	9: 49,418,343 (GRCm39)	T986S	probably benign	Het
Or13p4	T	C	4: 118,547,314 (GRCm39)	I112V	probably damaging	Het
Or4x13	T	C	2: 90,231,800 (GRCm39)	I265T	probably benign	Het
Phactr2	C	T	10: 13,121,261 (GRCm39)	G480S	probably damaging	Het
Por	A	G	5: 135,744,838 (GRCm39)	I34V	probably benign	Het
Ppp2r5b	C	T	19: 6,284,764 (GRCm39)	R33H	probably damaging	Het
Prkdc	C	A	16: 15,570,693 (GRCm39)	Y2325*	probably null	Het
Prx	A	G	7: 27,214,709 (GRCm39)	E73G	probably damaging	Het
Rbms2	C	A	10: 127,981,556 (GRCm39)	A126S	possibly damaging	Het
Rhoq	C	T	17: 87,302,117 (GRCm39)	A111V	probably damaging	Het
Rpl14	T	A	9: 120,403,240 (GRCm39)		probably benign	Het
Serbp1	A	G	6: 67,249,870 (GRCm39)	*75W	probably null	Het
Sptbn1	C	A	11: 30,073,978 (GRCm39)	V1351F	probably damaging	Het
Supt16	A	G	14: 52,401,979 (GRCm39)	V897A	probably benign	Het
Tfdp1	T	A	8: 13,407,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,780,487 (GRCm39)	Y1088F	probably damaging	Het
Vmn2r105	G	T	17: 20,448,929 (GRCm39)	Q83K	probably benign	Het
Wdr76	A	T	2: 121,359,323 (GRCm39)	S221C	probably damaging	Het
Zfhx2	G	T	14: 55,303,348 (GRCm39)	F1545L	probably benign	Het
Zfp318	A	G	17: 46,709,959 (GRCm39)	I561V	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
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
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'- TACCCATCTCGAAAAGAAGTTCAG -3'
(R):5'- TGTCCGTCGATACTGACCTG -3'

Sequencing Primer
(F):5'- CCATCTCGAAAAGAAGTTCAGGTAAG -3'
(R):5'- CCTGGAACAAAGCATGTGGTGTTC -3'

Posted On

2017-02-15