Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01350:Abcc5'

75303

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 #

IGL01350

Quality Score

Status

Chromosome

Chromosomal Location

20150053-20245144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20187208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 926 (I926T)

Ref Sequence

ENSEMBL: ENSMUSP00000111209 (fasta)

Gene Model

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

AlphaFold

Q9R1X5

Predicted Effect

probably benign
Transcript: ENSMUST00000079158
AA Change: I926T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: I926T

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: ENSMUST00000115547
AA Change: I926T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: I926T

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

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 41,278,876 (GRCm39)	C422*	probably null	Het
Aldh1l1	A	G	6: 90,536,338 (GRCm39)	N81S	probably damaging	Het
Amd1	A	T	10: 40,166,186 (GRCm39)	Y264*	probably null	Het
Axl	T	C	7: 25,458,175 (GRCm39)	Y851C	probably damaging	Het
Ccdc70	T	C	8: 22,463,690 (GRCm39)	L160P	probably damaging	Het
Cd2ap	A	T	17: 43,136,812 (GRCm39)	Y273*	probably null	Het
Cyb5rl	T	C	4: 106,941,409 (GRCm39)	V278A	possibly damaging	Het
Cyp2c29	T	C	19: 39,318,771 (GRCm39)	F417S	probably damaging	Het
Dnah7b	C	A	1: 46,120,592 (GRCm39)		probably benign	Het
Epha4	A	T	1: 77,483,492 (GRCm39)	D172E	probably damaging	Het
Eya4	T	A	10: 22,989,873 (GRCm39)	I495F	possibly damaging	Het
Gpr150	A	T	13: 76,204,542 (GRCm39)	H134Q	probably benign	Het
Gpr153	T	G	4: 152,366,423 (GRCm39)		probably benign	Het
Hipk2	A	G	6: 38,795,250 (GRCm39)	Y333H	probably damaging	Het
Jakmip1	T	C	5: 37,242,775 (GRCm39)	M21T	probably benign	Het
Kcnh3	A	T	15: 99,139,873 (GRCm39)	I920F	probably benign	Het
Lrp2	G	A	2: 69,341,328 (GRCm39)	R951C	probably damaging	Het
Msi1	A	G	5: 115,573,580 (GRCm39)	K126R	possibly damaging	Het
Nkx2-6	T	A	14: 69,412,222 (GRCm39)	F130Y	probably damaging	Het
Onecut2	T	A	18: 64,474,160 (GRCm39)	L218Q	probably damaging	Het
Or12j4	G	T	7: 140,046,292 (GRCm39)	M59I	probably damaging	Het
Or5p6	T	C	7: 107,630,887 (GRCm39)	Y221C	probably damaging	Het
Or8j3	A	G	2: 86,028,149 (GRCm39)	*316Q	probably null	Het
Pah	T	A	10: 87,414,221 (GRCm39)		probably benign	Het
Per2	C	T	1: 91,358,583 (GRCm39)	E602K	probably damaging	Het
Plb1	C	T	5: 32,474,408 (GRCm39)	T623M	probably damaging	Het
Prkaa2	T	C	4: 104,909,109 (GRCm39)		probably null	Het
Prl7b1	T	A	13: 27,786,804 (GRCm39)	T142S	probably damaging	Het
Psd3	T	C	8: 68,173,544 (GRCm39)	H1090R	probably damaging	Het
Siglecf	G	T	7: 43,005,319 (GRCm39)		probably benign	Het
Tas2r118	A	G	6: 23,969,746 (GRCm39)	V105A	probably damaging	Het
Thnsl1	T	C	2: 21,217,011 (GRCm39)	V255A	probably benign	Het
Tmprss5	T	A	9: 49,020,757 (GRCm39)	*84K	probably null	Het
Trrap	C	T	5: 144,767,779 (GRCm39)	L2579F	possibly damaging	Het
Vdac1	A	G	11: 52,276,489 (GRCm39)	T211A	probably benign	Het
Vmn1r16	A	T	6: 57,299,716 (GRCm39)	V302D	possibly damaging	Het
Wdr75	T	A	1: 45,857,420 (GRCm39)	C572*	probably null	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Zdhhc20	A	G	14: 58,111,444 (GRCm39)	V52A	probably benign	Het
Zfp977	T	C	7: 42,230,090 (GRCm39)	Y145C	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
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
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

2013-10-07