Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03411:Abcc5'

421805

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abcc5

Ensembl Gene

ENSMUSG00000022822

Gene Name

ATP-binding cassette, sub-family C member 5

Synonyms

2900011L11Rik, Abcc5b, Abcc5a, Mrp5

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03411

Quality Score

Status

Chromosome

Chromosomal Location

20150053-20245144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20218310 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 305 (I305T)

Ref Sequence

ENSEMBL: ENSMUSP00000111209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000077867] [ENSMUST00000079158] [ENSMUST00000096199] [ENSMUST00000115547] [ENSMUST00000232044]

AlphaFold

Q9R1X5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077867
AA Change: I305T

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077031
Gene: ENSMUSG00000022822
AA Change: I305T

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	179	447	1.6e-18	PFAM
Blast:AAA	463	512	2e-22	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000079158
AA Change: I305T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: I305T

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 benign
Transcript: ENSMUST00000096199

Predicted Effect

probably damaging
Transcript: ENSMUST00000115547
AA Change: I305T

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: I305T

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: ENSMUST00000128978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150340

Predicted Effect

probably benign
Transcript: ENSMUST00000232044

Coding Region Coverage

Validation Efficiency

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	G	A	8: 114,490,929 (GRCm39)	Q513*	probably null	Het
Adamts6	A	G	13: 104,450,842 (GRCm39)	I342V	possibly damaging	Het
Agtr1a	A	G	13: 30,565,582 (GRCm39)	T216A	possibly damaging	Het
Coro1b	A	G	19: 4,200,225 (GRCm39)		probably benign	Het
Cyp4a10	G	A	4: 115,382,890 (GRCm39)		probably null	Het
Cyp4x1	T	A	4: 114,965,982 (GRCm39)	Q448L	probably benign	Het
Ddx60	A	T	8: 62,430,916 (GRCm39)		probably null	Het
Exoc1	C	A	5: 76,690,042 (GRCm39)	A194D	probably damaging	Het
Fastkd1	A	C	2: 69,537,703 (GRCm39)	V293G	probably damaging	Het
Gm5773	T	C	3: 93,681,264 (GRCm39)	L312P	probably damaging	Het
Hhla1	A	G	15: 65,802,078 (GRCm39)		probably null	Het
Hmcn2	A	T	2: 31,236,649 (GRCm39)	E397D	possibly damaging	Het
Lig1	C	T	7: 13,030,694 (GRCm39)	R449C	probably damaging	Het
Mdc1	A	G	17: 36,164,018 (GRCm39)	T1189A	probably benign	Het
Muc4	G	A	16: 32,575,436 (GRCm39)	M1397I	probably benign	Het
Myh15	A	G	16: 48,980,330 (GRCm39)	E1484G	possibly damaging	Het
Neb	T	C	2: 52,182,890 (GRCm39)	I1019V	probably benign	Het
Nid1	T	C	13: 13,612,474 (GRCm39)	L63P	probably damaging	Het
Ogfod3	A	T	11: 121,068,630 (GRCm39)	*316R	probably null	Het
Or6z7	T	C	7: 6,483,435 (GRCm39)	K240R	probably benign	Het
Pdpk1	A	T	17: 24,320,618 (GRCm39)	V193E	probably damaging	Het
Phf3	G	T	1: 30,843,482 (GRCm39)	P1826T	probably damaging	Het
Pnliprp2	A	G	19: 58,748,847 (GRCm39)	I51V	probably benign	Het
Prpf4b	C	T	13: 35,079,342 (GRCm39)	L739F	probably damaging	Het
Rcbtb1	T	A	14: 59,447,419 (GRCm39)	M1K	probably null	Het
Rin2	A	G	2: 145,702,864 (GRCm39)	E520G	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Shpk	A	G	11: 73,105,861 (GRCm39)	T238A	probably benign	Het
Tmem132d	A	T	5: 128,061,347 (GRCm39)	Y418*	probably null	Het
Tpte	T	C	8: 22,815,553 (GRCm39)	V212A	possibly damaging	Het
Trim55	A	T	3: 19,713,354 (GRCm39)	Y135F	probably damaging	Het
Ttn	C	T	2: 76,598,456 (GRCm39)	A19486T	probably damaging	Het
Vmn2r59	A	T	7: 41,708,340 (GRCm39)	N22K	probably benign	Het
Vmn2r63	T	C	7: 42,577,368 (GRCm39)	D390G	probably benign	Het
Vmn2r96	A	G	17: 18,806,634 (GRCm39)	E527G	possibly damaging	Het
Vps13d	C	T	4: 144,875,894 (GRCm39)	E1538K	probably damaging	Het
Zfp64	T	C	2: 168,793,462 (GRCm39)		probably null	Het
Zfp827	A	G	8: 79,803,116 (GRCm39)	S563G	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
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
R4432:Abcc5	UTSW	16	20,186,937 (GRCm39)	splice site	probably null
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

Posted On

2016-08-02