Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01774:Abcc5'

154046

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 #

IGL01774

Quality Score

Status

Chromosome

Chromosomal Location

20150053-20245144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20197207 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 674 (D674G)

Ref Sequence

ENSEMBL: ENSMUSP00000111209 (fasta)

Gene Model

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

AlphaFold

Q9R1X5

Predicted Effect

probably damaging
Transcript: ENSMUST00000079158
AA Change: D674G

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

SMART Domains

Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: D674G

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 damaging
Transcript: ENSMUST00000115547
AA Change: D674G

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

SMART Domains

Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: D674G

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: 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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,077,058 (GRCm39)	D708G	probably damaging	Het
Abca16	T	C	7: 120,021,024 (GRCm39)		probably benign	Het
Abr	A	G	11: 76,355,125 (GRCm39)		probably benign	Het
Arfgef3	A	G	10: 18,619,363 (GRCm39)	I4T	possibly damaging	Het
Btla	A	G	16: 45,070,911 (GRCm39)	N290S	possibly damaging	Het
Catip	C	A	1: 74,407,642 (GRCm39)	R325S	probably damaging	Het
Cep120	A	G	18: 53,839,902 (GRCm39)	L786P	possibly damaging	Het
Cnot8	A	G	11: 58,006,133 (GRCm39)	I221V	probably benign	Het
Eloc	A	T	1: 16,716,013 (GRCm39)	D37E	probably benign	Het
Fabp12	A	C	3: 10,312,754 (GRCm39)	N89K	probably benign	Het
Ficd	G	T	5: 113,877,073 (GRCm39)	R416L	probably damaging	Het
Frmd3	T	C	4: 74,106,075 (GRCm39)	Y574H	probably damaging	Het
Frmd4a	T	C	2: 4,540,047 (GRCm39)		probably benign	Het
Gatc	G	A	5: 115,479,076 (GRCm39)	Q45*	probably null	Het
Gm5414	T	C	15: 101,535,410 (GRCm39)	D225G	probably benign	Het
Itpkc	G	T	7: 26,911,795 (GRCm39)	A592E	probably benign	Het
Kl	G	T	5: 150,911,948 (GRCm39)	V566L	probably benign	Het
Lpin1	T	A	12: 16,608,477 (GRCm39)	D545V	probably damaging	Het
Mtcl1	T	C	17: 66,692,880 (GRCm39)	Y483C	probably damaging	Het
Neb	C	T	2: 52,112,982 (GRCm39)	W67*	probably null	Het
Nrarp	T	C	2: 25,071,298 (GRCm39)	V59A	possibly damaging	Het
Nuf2	G	A	1: 169,333,641 (GRCm39)	T345M	probably benign	Het
Or52n20	T	C	7: 104,320,149 (GRCm39)	I80T	probably benign	Het
Pacs2	T	A	12: 113,020,462 (GRCm39)	H278Q	probably benign	Het
Pot1a	T	C	6: 25,753,276 (GRCm39)	K420R	probably benign	Het
Rag2	A	G	2: 101,460,392 (GRCm39)	Y234C	probably damaging	Het
Ralgds	C	T	2: 28,440,554 (GRCm39)	Q88*	probably null	Het
Rictor	T	C	15: 6,799,258 (GRCm39)	S365P	probably damaging	Het
Slco1a1	G	A	6: 141,871,339 (GRCm39)	Q276*	probably null	Het
Tas2r134	C	T	2: 51,518,160 (GRCm39)	T213I	probably benign	Het
Tecpr1	A	G	5: 144,148,358 (GRCm39)	I349T	probably damaging	Het
Tnxb	T	C	17: 34,907,813 (GRCm39)	S1286P	probably damaging	Het
Trafd1	A	G	5: 121,513,113 (GRCm39)	V375A	possibly damaging	Het
Vmn2r110	T	A	17: 20,803,889 (GRCm39)	I229L	probably benign	Het
Vnn1	T	C	10: 23,776,608 (GRCm39)	Y320H	probably benign	Het
Zfp990	T	C	4: 145,263,518 (GRCm39)	V172A	probably benign	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
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
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

2014-02-04