Mutagenetix > Incidental Mutation

Incidental Mutation 'R4432:Abcc5'

328670

Institutional Source

Beutler Lab

Gene Symbol

Abcc5

Ensembl Gene

ENSMUSG00000022822

Gene Name

ATP-binding cassette, sub-family C member 5

Synonyms

2900011L11Rik, Abcc5b, Abcc5a, Mrp5

MMRRC Submission

041701-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4432 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20150053-20245144 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 20186937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079158] [ENSMUST00000115547]

AlphaFold

Q9R1X5

Predicted Effect

probably null
Transcript: ENSMUST00000079158

SMART Domains

Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	179	447	1.6e-18	PFAM
low complexity region	552	563	N/A	INTRINSIC
AAA	587	760	1.16e-12	SMART
low complexity region	815	826	N/A	INTRINSIC
Pfam:ABC_membrane	858	1142	9.3e-36	PFAM
AAA	1218	1403	1.26e-13	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000115547

SMART Domains

Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	179	447	2e-17	PFAM
low complexity region	552	563	N/A	INTRINSIC
AAA	587	760	1.16e-12	SMART
low complexity region	815	826	N/A	INTRINSIC
Pfam:ABC_membrane	858	1146	6.5e-30	PFAM
AAA	1218	1403	1.26e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127582

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148003

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

100% (42/42)

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 MRP subfamily which is involved in multi-drug resistance. The human protein functions in the cellular export of its substrate, cyclic nucleotides. This export contributes to the degradation of phosphodiesterases and possibly an elimination pathway for cyclic nucleotides. Studies show that the human protein provides resistance to thiopurine anticancer drugs, 6-mercatopurine and thioguanine, and the anti-HIV drug 9-(2-phosphonylmethoxyethyl)adenine. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele display normal cGMP transport into erythrocyte membrane vesicles. [provided by MGI curators]

Allele List at MGI

All alleles(81) : Targeted(4) Gene trapped(77)

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,132,414 (GRCm39)	M294V	probably benign	Het
Acsm4	A	C	7: 119,310,610 (GRCm39)	E499A	probably damaging	Het
Adamtsl4	T	C	3: 95,589,069 (GRCm39)		probably null	Het
Ank2	A	T	3: 126,741,455 (GRCm39)		probably benign	Het
Anks6	G	A	4: 47,044,905 (GRCm39)	Q334*	probably null	Het
Cadps2	T	A	6: 23,626,737 (GRCm39)	I155L	probably damaging	Het
Casp4	G	A	9: 5,323,653 (GRCm39)	R74H	probably damaging	Het
Cdk14	A	G	5: 5,086,427 (GRCm39)	W298R	probably damaging	Het
Chia1	A	G	3: 106,022,641 (GRCm39)	N12D	probably benign	Het
Cibar2	C	A	8: 120,901,594 (GRCm39)	R37L	probably damaging	Het
Cyp3a59	A	G	5: 146,041,596 (GRCm39)	D380G	probably benign	Het
Dnm2	T	C	9: 21,402,600 (GRCm39)		probably benign	Het
Dnm3	T	C	1: 161,819,566 (GRCm39)		probably benign	Het
Dpp4	A	G	2: 62,175,456 (GRCm39)	Y660H	probably damaging	Het
H6pd	T	G	4: 150,080,215 (GRCm39)	Y202S	probably damaging	Het
Hnrnpa0	T	C	13: 58,275,751 (GRCm39)	K126R	probably benign	Het
Insc	C	T	7: 114,368,290 (GRCm39)		probably benign	Het
Lrrc45	G	A	11: 120,606,047 (GRCm39)		probably null	Het
Mapkap1	T	C	2: 34,509,875 (GRCm39)	L263P	probably damaging	Het
Nmur1	A	G	1: 86,315,287 (GRCm39)	S160P	probably damaging	Het
Or4a81	A	T	2: 89,619,078 (GRCm39)	M206K	possibly damaging	Het
Or4g7	T	A	2: 111,309,757 (GRCm39)	C209*	probably null	Het
Pcdhb15	A	G	18: 37,608,565 (GRCm39)	N599S	probably damaging	Het
Pcid2	T	C	8: 13,135,421 (GRCm39)	D196G	probably damaging	Het
Pcolce2	T	C	9: 95,563,610 (GRCm39)	F199L	probably damaging	Het
Phf11c	A	T	14: 59,628,384 (GRCm39)	N88K	possibly damaging	Het
Prl8a8	T	A	13: 27,694,463 (GRCm39)	Y109F	probably benign	Het
Rasa2	A	G	9: 96,424,460 (GRCm39)		probably benign	Het
Samhd1	T	C	2: 156,946,813 (GRCm39)	D558G	probably damaging	Het
Slc1a1	T	C	19: 28,880,109 (GRCm39)	F263S	probably benign	Het
Slc27a3	G	A	3: 90,294,647 (GRCm39)	T408M	probably damaging	Het
Slc4a7	T	A	14: 14,757,323 (GRCm38)	N520K	probably damaging	Het
Szt2	A	G	4: 118,241,428 (GRCm39)	S1679P	probably damaging	Het
Trmt9b	A	T	8: 36,965,632 (GRCm39)	I51F	probably damaging	Het
Vmn1r218	T	C	13: 23,321,412 (GRCm39)	F173S	possibly damaging	Het
Vmn2r32	T	A	7: 7,482,918 (GRCm39)	N19Y	probably damaging	Het

Other mutations in Abcc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Abcc5	APN	16	20,241,107 (GRCm39)	missense	probably benign	0.01
IGL00928:Abcc5	APN	16	20,217,720 (GRCm39)	unclassified	probably benign
IGL01350:Abcc5	APN	16	20,187,208 (GRCm39)	missense	probably benign	0.00
IGL01774:Abcc5	APN	16	20,197,207 (GRCm39)	missense	probably damaging	1.00
IGL01934:Abcc5	APN	16	20,241,191 (GRCm39)	utr 5 prime	probably benign
IGL02413:Abcc5	APN	16	20,241,187 (GRCm39)	utr 5 prime	probably benign
IGL02426:Abcc5	APN	16	20,157,675 (GRCm39)	missense	probably damaging	0.98
IGL02797:Abcc5	APN	16	20,187,214 (GRCm39)	missense	probably benign	0.06
IGL02938:Abcc5	APN	16	20,180,979 (GRCm39)	missense	possibly damaging	0.64
IGL03367:Abcc5	APN	16	20,211,561 (GRCm39)	utr 3 prime	probably benign
IGL03411:Abcc5	APN	16	20,218,310 (GRCm39)	missense	probably damaging	0.97
PIT4508001:Abcc5	UTSW	16	20,176,128 (GRCm39)	missense	probably damaging	0.97
R0021:Abcc5	UTSW	16	20,197,411 (GRCm39)	nonsense	probably null
R0021:Abcc5	UTSW	16	20,197,411 (GRCm39)	nonsense	probably null
R0220:Abcc5	UTSW	16	20,187,852 (GRCm39)	missense	probably benign
R0281:Abcc5	UTSW	16	20,241,150 (GRCm39)	missense	probably damaging	1.00
R0401:Abcc5	UTSW	16	20,195,308 (GRCm39)	missense	probably benign	0.09
R0448:Abcc5	UTSW	16	20,218,687 (GRCm39)	missense	probably damaging	1.00
R0477:Abcc5	UTSW	16	20,217,635 (GRCm39)	missense	probably damaging	0.96
R0477:Abcc5	UTSW	16	20,187,319 (GRCm39)	missense	possibly damaging	0.51
R0601:Abcc5	UTSW	16	20,223,309 (GRCm39)	splice site	probably benign
R0648:Abcc5	UTSW	16	20,184,632 (GRCm39)	missense	possibly damaging	0.90
R0709:Abcc5	UTSW	16	20,195,342 (GRCm39)	missense	possibly damaging	0.91
R1144:Abcc5	UTSW	16	20,241,188 (GRCm39)	utr 5 prime	probably benign
R1552:Abcc5	UTSW	16	20,217,617 (GRCm39)	missense	probably damaging	0.99
R1625:Abcc5	UTSW	16	20,184,567 (GRCm39)	missense	probably damaging	0.99
R1748:Abcc5	UTSW	16	20,152,338 (GRCm39)	missense	probably benign	0.01
R1789:Abcc5	UTSW	16	20,184,701 (GRCm39)	missense	probably damaging	1.00
R1801:Abcc5	UTSW	16	20,157,637 (GRCm39)	missense	probably benign	0.43
R1909:Abcc5	UTSW	16	20,195,259 (GRCm39)	critical splice donor site	probably null
R2046:Abcc5	UTSW	16	20,218,567 (GRCm39)	missense	possibly damaging	0.90
R2203:Abcc5	UTSW	16	20,224,632 (GRCm39)	missense	possibly damaging	0.91
R3031:Abcc5	UTSW	16	20,193,863 (GRCm39)	missense	probably damaging	0.99
R3417:Abcc5	UTSW	16	20,224,302 (GRCm39)	splice site	probably benign
R3708:Abcc5	UTSW	16	20,190,930 (GRCm39)	missense	probably benign	0.30
R3731:Abcc5	UTSW	16	20,217,684 (GRCm39)	nonsense	probably null
R3829:Abcc5	UTSW	16	20,184,615 (GRCm39)	missense	probably benign	0.00
R3847:Abcc5	UTSW	16	20,190,906 (GRCm39)	missense	probably benign	0.12
R3850:Abcc5	UTSW	16	20,190,906 (GRCm39)	missense	probably benign	0.12
R3955:Abcc5	UTSW	16	20,224,293 (GRCm39)	missense	probably damaging	0.97
R4072:Abcc5	UTSW	16	20,152,445 (GRCm39)	missense	probably damaging	1.00
R4433:Abcc5	UTSW	16	20,186,937 (GRCm39)	splice site	probably null
R4505:Abcc5	UTSW	16	20,152,445 (GRCm39)	missense	probably damaging	1.00
R4506:Abcc5	UTSW	16	20,152,445 (GRCm39)	missense	probably damaging	1.00
R4715:Abcc5	UTSW	16	20,217,626 (GRCm39)	missense	probably damaging	1.00
R4739:Abcc5	UTSW	16	20,218,376 (GRCm39)	missense	probably damaging	1.00
R4866:Abcc5	UTSW	16	20,241,182 (GRCm39)	start codon destroyed	probably null	1.00
R4905:Abcc5	UTSW	16	20,218,678 (GRCm39)	missense	probably damaging	1.00
R4907:Abcc5	UTSW	16	20,195,296 (GRCm39)	missense	possibly damaging	0.86
R5088:Abcc5	UTSW	16	20,195,412 (GRCm39)	missense	probably damaging	1.00
R5232:Abcc5	UTSW	16	20,157,672 (GRCm39)	missense	probably damaging	0.96
R5559:Abcc5	UTSW	16	20,157,636 (GRCm39)	missense	probably damaging	1.00
R5647:Abcc5	UTSW	16	20,218,597 (GRCm39)	missense	probably damaging	1.00
R5861:Abcc5	UTSW	16	20,218,644 (GRCm39)	missense	probably damaging	1.00
R6190:Abcc5	UTSW	16	20,211,529 (GRCm39)	missense	probably benign	0.02
R6213:Abcc5	UTSW	16	20,218,762 (GRCm39)	missense	probably damaging	1.00
R6511:Abcc5	UTSW	16	20,195,344 (GRCm39)	missense	probably damaging	0.99
R6732:Abcc5	UTSW	16	20,223,434 (GRCm39)	missense	probably benign	0.01
R6815:Abcc5	UTSW	16	20,152,380 (GRCm39)	missense	probably damaging	1.00
R6913:Abcc5	UTSW	16	20,197,494 (GRCm39)	missense	possibly damaging	0.73
R6945:Abcc5	UTSW	16	20,218,759 (GRCm39)	missense	probably benign
R7167:Abcc5	UTSW	16	20,224,251 (GRCm39)	missense	possibly damaging	0.70
R7276:Abcc5	UTSW	16	20,195,258 (GRCm39)	splice site	probably null
R7318:Abcc5	UTSW	16	20,211,293 (GRCm39)	missense	probably benign	0.01
R7380:Abcc5	UTSW	16	20,215,784 (GRCm39)	missense	possibly damaging	0.84
R7419:Abcc5	UTSW	16	20,241,173 (GRCm39)	missense	possibly damaging	0.57
R7451:Abcc5	UTSW	16	20,193,820 (GRCm39)	missense	probably damaging	1.00
R7475:Abcc5	UTSW	16	20,218,739 (GRCm39)	missense	probably benign	0.04
R7567:Abcc5	UTSW	16	20,224,260 (GRCm39)	missense	probably damaging	1.00
R7601:Abcc5	UTSW	16	20,193,882 (GRCm39)	nonsense	probably null
R7623:Abcc5	UTSW	16	20,163,446 (GRCm39)	missense	possibly damaging	0.95
R7682:Abcc5	UTSW	16	20,186,803 (GRCm39)	missense	probably damaging	1.00
R8128:Abcc5	UTSW	16	20,184,473 (GRCm39)	missense	probably damaging	0.98
R8327:Abcc5	UTSW	16	20,241,068 (GRCm39)	missense	probably benign	0.00
R8518:Abcc5	UTSW	16	20,223,398 (GRCm39)	missense	possibly damaging	0.80
R8678:Abcc5	UTSW	16	20,184,685 (GRCm39)	missense	probably benign	0.31
R8679:Abcc5	UTSW	16	20,152,479 (GRCm39)	missense	possibly damaging	0.89
R9206:Abcc5	UTSW	16	20,208,139 (GRCm39)	missense	probably benign	0.00
R9254:Abcc5	UTSW	16	20,152,437 (GRCm39)	missense	probably damaging	1.00
R9379:Abcc5	UTSW	16	20,152,437 (GRCm39)	missense	probably damaging	1.00
R9501:Abcc5	UTSW	16	20,214,853 (GRCm39)	missense	probably damaging	1.00
R9647:Abcc5	UTSW	16	20,195,310 (GRCm39)	missense	probably benign	0.01
X0022:Abcc5	UTSW	16	20,211,337 (GRCm39)	missense	probably damaging	1.00
X0053:Abcc5	UTSW	16	20,182,792 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- ACTCCAGAGTGTAAGACAGGAC -3'
(R):5'- TCGTCAAGGTATCACCGTGG -3'

Sequencing Primer
(F):5'- GGACCAGTGAGAGATACCTTCATC -3'
(R):5'- TTCCCCAGGTCACAGGAGAG -3'

Posted On

2015-07-21