Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00917:Abcc5'

29140

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 #

IGL00917

Quality Score

Status

Chromosome

Chromosomal Location

20150053-20245144 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 20241107 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 26 (V26E)

Ref Sequence

ENSEMBL: ENSMUSP00000093913 (fasta)

Gene Model

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

AlphaFold

Q9R1X5

Predicted Effect

probably benign
Transcript: ENSMUST00000077867
AA Change: V26E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000077031
Gene: ENSMUSG00000022822
AA Change: V26E

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 benign
Transcript: ENSMUST00000079158
AA Change: V26E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: V26E

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
AA Change: V26E

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

Predicted Effect

probably benign
Transcript: ENSMUST00000115547
AA Change: V26E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: V26E

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: ENSMUST00000134962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231522

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy4	T	A	14: 56,011,120 (GRCm39)		probably null	Het
Adgrl3	C	T	5: 81,841,421 (GRCm39)	T766I	possibly damaging	Het
Atad2b	A	T	12: 5,015,837 (GRCm39)		probably benign	Het
Atp8b4	A	T	2: 126,216,453 (GRCm39)	S664R	probably benign	Het
Cand1	A	C	10: 119,046,841 (GRCm39)	I883S	possibly damaging	Het
Cfap53	A	G	18: 74,432,367 (GRCm39)	D85G	probably benign	Het
Chd4	G	A	6: 125,081,909 (GRCm39)	R514Q	possibly damaging	Het
Cnst	T	C	1: 179,452,557 (GRCm39)		probably benign	Het
Col6a6	T	C	9: 105,661,453 (GRCm39)		probably benign	Het
Cux2	A	C	5: 122,007,168 (GRCm39)	L831R	probably null	Het
Elf2	T	A	3: 51,215,467 (GRCm39)		probably benign	Het
Frey1	T	A	2: 92,213,563 (GRCm39)	S39T	probably benign	Het
Glp1r	A	G	17: 31,138,443 (GRCm39)		probably benign	Het
Hus1b	A	G	13: 31,131,527 (GRCm39)	M44T	probably benign	Het
Mbd6	A	G	10: 127,119,988 (GRCm39)		probably benign	Het
Med31	T	A	11: 72,102,905 (GRCm39)		probably null	Het
Mmrn1	C	T	6: 60,952,894 (GRCm39)	Q392*	probably null	Het
Mrpl3	T	G	9: 104,934,240 (GRCm39)	V121G	probably damaging	Het
Or10am5	A	G	7: 6,517,577 (GRCm39)	S284P	probably damaging	Het
Or14c46	A	T	7: 85,918,649 (GRCm39)	M116K	probably damaging	Het
Palld	A	G	8: 61,968,969 (GRCm39)	V879A	possibly damaging	Het
Pkn2	G	T	3: 142,559,386 (GRCm39)	D46E	probably damaging	Het
Prkdc	T	A	16: 15,557,428 (GRCm39)	C2244S	probably damaging	Het
Prss50	T	A	9: 110,691,474 (GRCm39)	H259Q	possibly damaging	Het
Rab8b	C	T	9: 66,761,969 (GRCm39)	W102*	probably null	Het
Rad54l2	A	T	9: 106,587,638 (GRCm39)	L709Q	possibly damaging	Het
Rapgef1	T	C	2: 29,592,535 (GRCm39)	V471A	probably benign	Het
Rbms3	A	G	9: 116,939,183 (GRCm39)	S27P	probably damaging	Het
Rpl35a	A	G	16: 32,879,101 (GRCm39)	K73E	possibly damaging	Het
Sugct	A	T	13: 17,032,503 (GRCm39)	Y416*	probably null	Het
Top2b	A	G	14: 16,407,354 (GRCm38)	I713V	probably benign	Het
Unc79	A	T	12: 103,054,766 (GRCm39)	R777S	possibly damaging	Het
Vps37a	T	A	8: 40,993,779 (GRCm39)	M258K	probably benign	Het
Zfp944	G	A	17: 22,558,765 (GRCm39)	L161F	probably benign	Het

Other mutations in Abcc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-04-17