Mutagenetix > Incidental Mutations

Incidental Mutation 'R0601:Abcc5'

55452

Institutional Source

Beutler Lab

Gene Symbol

Abcc5

Ensembl Gene

ENSMUSG00000022822

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 5

Synonyms

2900011L11Rik, Abcc5a, Mrp5, Abcc5b

MMRRC Submission

038790-MU

Accession Numbers

Ncbi RefSeq: NM_013790.2, NM_176839.1; MGI:1351644

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0601 (G1)

Quality Score

144

Status

Validated

Chromosome

Chromosomal Location

20331303-20426394 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 20404559 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000111209 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000077867

SMART Domains

Protein: ENSMUSP00000077031
Gene: ENSMUSG00000022822

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

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 benign
Transcript: ENSMUST00000096199

Predicted Effect

probably benign
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: ENSMUST00000128978

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131453

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134962

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231522

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.2%

Validation Efficiency

98% (119/122)

MGI Phenotype

Strain: 3794119
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: 119 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	G	14: 35,810,189	D143A	probably damaging	Het
Abca9	C	T	11: 110,117,058		probably null	Het
Ablim3	T	A	18: 61,849,370	D168V	probably benign	Het
Acsl3	C	T	1: 78,696,179	S352F	probably damaging	Het
Adgrl4	A	T	3: 151,498,429		probably benign	Het
Arhgap29	A	G	3: 121,991,110	K229E	probably damaging	Het
Atad3a	A	T	4: 155,747,407	V470D	probably damaging	Het
Atp8b1	A	G	18: 64,571,653		probably null	Het
Bcl2	G	A	1: 106,712,562	R107C	probably damaging	Het
Bpifa5	A	G	2: 154,164,255	N121S	possibly damaging	Het
Bpifb4	G	A	2: 153,947,283		probably benign	Het
Bptf	T	A	11: 107,061,692	T2112S	probably benign	Het
Btnl4	T	C	17: 34,469,311	K498E	probably benign	Het
Calhm2	A	G	19: 47,141,030		probably null	Het
Capn3	A	T	2: 120,502,596		probably null	Het
Caps2	T	C	10: 112,195,790	F265L	possibly damaging	Het
Casp3	G	T	8: 46,636,227	C170F	probably benign	Het
Ccdc39	T	C	3: 33,819,839	R615G	probably damaging	Het
Cd177	A	G	7: 24,752,313	I426T	probably benign	Het
Cfap53	G	A	18: 74,300,150	R102H	possibly damaging	Het
Cfhr3	G	A	1: 139,593,885		noncoding transcript	Het
Col7a1	T	C	9: 108,980,584		probably benign	Het
Cplx3	T	C	9: 57,606,074	E24G	possibly damaging	Het
D11Wsu47e	T	A	11: 113,687,886	S36T	probably benign	Het
Dhx30	A	G	9: 110,086,714		probably null	Het
Dnah8	T	A	17: 30,708,358	N1329K	probably benign	Het
Dnajc11	C	G	4: 151,969,936	R200G	probably damaging	Het
Dok3	A	T	13: 55,524,263	F201I	probably benign	Het
Dpf2	A	T	19: 5,902,212	H303Q	probably damaging	Het
Dtnb	A	G	12: 3,735,039		probably benign	Het
Elk3	T	C	10: 93,265,481	E136G	probably damaging	Het
Ephb1	T	C	9: 102,195,130	D150G	probably damaging	Het
Erbb3	A	G	10: 128,577,012	S570P	probably benign	Het
F2	A	T	2: 91,633,311		probably null	Het
Fanca	A	T	8: 123,308,513	M231K	probably damaging	Het
Fbxo34	T	C	14: 47,530,257	V358A	probably benign	Het
Foxp1	C	T	6: 98,930,122	E666K	probably damaging	Het
Fto	A	G	8: 91,401,802		probably null	Het
Gbp2	C	T	3: 142,630,758	R290C	possibly damaging	Het
Grik2	T	G	10: 49,422,597	S343R	probably damaging	Het
Heatr5b	A	T	17: 78,768,545	M1448K	probably benign	Het
Hmgn3	A	T	9: 83,146,429		probably null	Het
Htt	T	C	5: 34,846,003	V1274A	probably benign	Het
Kcnh8	A	G	17: 52,894,005	D489G	probably damaging	Het
Kcnip3	A	T	2: 127,458,397		probably benign	Het
Kdm5a	A	G	6: 120,402,671	T647A	possibly damaging	Het
Krt72	T	C	15: 101,786,056	R135G	probably damaging	Het
Larp7	T	A	3: 127,544,209	K400N	probably damaging	Het
Lifr	T	C	15: 7,169,272		probably null	Het
Lima1	G	A	15: 99,780,472	P696L	probably damaging	Het
Lrrc8e	T	G	8: 4,235,239		probably null	Het
Map1a	A	G	2: 121,298,602	R116G	probably damaging	Het
Map3k13	A	G	16: 21,905,249	E327G	possibly damaging	Het
Med13	A	G	11: 86,345,962	V123A	possibly damaging	Het
Megf8	A	C	7: 25,328,540	H205P	probably benign	Het
Met	G	A	6: 17,555,632		probably null	Het
Mfsd14b	A	C	13: 65,087,150	V71G	possibly damaging	Het
Mpl	T	A	4: 118,443,536	T599S	probably benign	Het
Myh15	A	T	16: 49,061,581	D62V	probably damaging	Het
Myo5a	A	G	9: 75,174,015	T961A	probably benign	Het
Myrfl	A	G	10: 116,776,760	Y895H	probably damaging	Het
Nap1l1	T	C	10: 111,490,363		probably benign	Het
Ncapd3	T	A	9: 27,041,507	Y111N	probably benign	Het
Nlrc3	A	G	16: 3,948,249		probably benign	Het
Nsun2	G	T	13: 69,633,242	V657L	probably benign	Het
Olfr1026	A	T	2: 85,923,378	I37F	probably benign	Het
Olfr1247	T	A	2: 89,609,220	N294I	probably benign	Het
Olfr142	T	C	2: 90,252,934	D18G	probably benign	Het
Olfr1511	C	A	14: 52,389,826	G316*	probably null	Het
Olfr195	G	A	16: 59,149,754	M301I	probably benign	Het
Olfr596	T	C	7: 103,310,164	S148P	probably damaging	Het
Olfr646	A	T	7: 104,107,142	I288F	possibly damaging	Het
Olfr780	T	A	10: 129,322,016	M131K	possibly damaging	Het
Osbpl3	A	T	6: 50,299,403	V795D	probably benign	Het
Osbpl5	T	C	7: 143,709,549	D155G	probably damaging	Het
Parm1	G	A	5: 91,594,264	V164I	probably benign	Het
Pgd	A	T	4: 149,156,810		probably benign	Het
Pkp1	G	A	1: 135,878,182	R593W	probably damaging	Het
Polr2l	A	T	7: 141,473,342	V53E	probably damaging	Het
Ppp4c	G	T	7: 126,787,288	T29K	probably benign	Het
Ppp4r4	T	A	12: 103,600,520		probably benign	Het
Ptprd	A	G	4: 76,100,474	S688P	probably benign	Het
Rab3b	A	T	4: 108,890,389	I28F	probably damaging	Het
Rnase4	T	C	14: 51,105,095	L92P	probably benign	Het
Rnpc3	T	C	3: 113,620,106	E229G	probably benign	Het
Rtraf	A	T	14: 19,816,206	D147E	possibly damaging	Het
Rttn	G	A	18: 89,042,966	G1086D	probably benign	Het
Ryr2	A	G	13: 11,705,633		probably null	Het
Sft2d2	T	C	1: 165,183,861	I126V	probably benign	Het
Skap1	G	T	11: 96,723,410		probably benign	Het
Slc14a2	A	T	18: 78,157,179	L753*	probably null	Het
Slc25a5	G	A	X: 36,795,755	A9T	probably benign	Het
Slc30a5	T	C	13: 100,814,770		probably benign	Het
Slc5a4b	A	C	10: 76,064,036	I456S	possibly damaging	Het
Slc9a4	A	T	1: 40,603,070	S400C	probably damaging	Het
Slx1b	T	A	7: 126,692,640	H84L	probably damaging	Het
Sptbn1	T	C	11: 30,150,008	Y190C	probably damaging	Het
Stk32b	T	C	5: 37,531,566	Q138R	probably damaging	Het
Syt6	C	A	3: 103,620,890	D308E	probably damaging	Het
Sytl2	G	A	7: 90,395,166	D572N	probably damaging	Het
Taok2	A	T	7: 126,879,433	L109Q	probably damaging	Het
Tbl1xr1	T	C	3: 22,179,319		probably benign	Het
Tlk1	A	G	2: 70,714,158	I711T	probably benign	Het
Trf	A	G	9: 103,222,933		probably null	Het
Trpc2	A	G	7: 102,084,365	T548A	possibly damaging	Het
Ttbk2	A	T	2: 120,825,296	I29N	possibly damaging	Het
Tti1	A	T	2: 157,993,372	C989S	probably damaging	Het
Txndc8	A	G	4: 58,000,256	Y108H	probably benign	Het
Ugt2b1	A	T	5: 86,917,680	V500D	possibly damaging	Het
Vmn1r34	A	G	6: 66,637,664	I30T	possibly damaging	Het
Vmn2r115	A	G	17: 23,360,100	K849R	probably null	Het
Vmn2r76	T	A	7: 86,226,115		probably null	Het
Vps13c	T	A	9: 67,927,472	S1694R	probably benign	Het
Wdfy3	G	T	5: 101,836,172	P3509T	probably benign	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Wdr60	T	C	12: 116,255,935	D129G	possibly damaging	Het
Wnt8b	T	A	19: 44,493,667	W40R	probably benign	Het
Xrra1	A	G	7: 99,910,968	I384V	possibly damaging	Het
Zfp11	A	T	5: 129,657,907	H163Q	probably damaging	Het

Other mutations in Abcc5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00917:Abcc5	APN	16	20422357	missense	probably benign	0.01
IGL00928:Abcc5	APN	16	20398970	unclassified	probably benign
IGL01350:Abcc5	APN	16	20368458	missense	probably benign	0.00
IGL01774:Abcc5	APN	16	20378457	missense	probably damaging	1.00
IGL01934:Abcc5	APN	16	20422441	utr 5 prime	probably benign
IGL02413:Abcc5	APN	16	20422437	utr 5 prime	probably benign
IGL02426:Abcc5	APN	16	20338925	missense	probably damaging	0.98
IGL02797:Abcc5	APN	16	20368464	missense	probably benign	0.06
IGL02938:Abcc5	APN	16	20362229	missense	possibly damaging	0.64
IGL03367:Abcc5	APN	16	20392811	utr 3 prime	probably benign
IGL03411:Abcc5	APN	16	20399560	missense	probably damaging	0.97
PIT4508001:Abcc5	UTSW	16	20357378	missense	probably damaging	0.97
R0021:Abcc5	UTSW	16	20378661	nonsense	probably null
R0021:Abcc5	UTSW	16	20378661	nonsense	probably null
R0220:Abcc5	UTSW	16	20369102	missense	probably benign
R0281:Abcc5	UTSW	16	20422400	missense	probably damaging	1.00
R0401:Abcc5	UTSW	16	20376558	missense	probably benign	0.09
R0448:Abcc5	UTSW	16	20399937	missense	probably damaging	1.00
R0477:Abcc5	UTSW	16	20368569	missense	possibly damaging	0.51
R0477:Abcc5	UTSW	16	20398885	missense	probably damaging	0.96
R0648:Abcc5	UTSW	16	20365882	missense	possibly damaging	0.90
R0709:Abcc5	UTSW	16	20376592	missense	possibly damaging	0.91
R1144:Abcc5	UTSW	16	20422438	utr 5 prime	probably benign
R1552:Abcc5	UTSW	16	20398867	missense	probably damaging	0.99
R1625:Abcc5	UTSW	16	20365817	missense	probably damaging	0.99
R1748:Abcc5	UTSW	16	20333588	missense	probably benign	0.01
R1789:Abcc5	UTSW	16	20365951	missense	probably damaging	1.00
R1801:Abcc5	UTSW	16	20338887	missense	probably benign	0.43
R1909:Abcc5	UTSW	16	20376509	critical splice donor site	probably null
R2046:Abcc5	UTSW	16	20399817	missense	possibly damaging	0.90
R2203:Abcc5	UTSW	16	20405882	missense	possibly damaging	0.91
R3031:Abcc5	UTSW	16	20375113	missense	probably damaging	0.99
R3417:Abcc5	UTSW	16	20405552	splice site	probably benign
R3708:Abcc5	UTSW	16	20372180	missense	probably benign	0.30
R3731:Abcc5	UTSW	16	20398934	nonsense	probably null
R3829:Abcc5	UTSW	16	20365865	missense	probably benign	0.00
R3847:Abcc5	UTSW	16	20372156	missense	probably benign	0.12
R3850:Abcc5	UTSW	16	20372156	missense	probably benign	0.12
R3955:Abcc5	UTSW	16	20405543	missense	probably damaging	0.97
R4072:Abcc5	UTSW	16	20333695	missense	probably damaging	1.00
R4432:Abcc5	UTSW	16	20368187	splice site	probably null
R4433:Abcc5	UTSW	16	20368187	splice site	probably null
R4505:Abcc5	UTSW	16	20333695	missense	probably damaging	1.00
R4506:Abcc5	UTSW	16	20333695	missense	probably damaging	1.00
R4715:Abcc5	UTSW	16	20398876	missense	probably damaging	1.00
R4739:Abcc5	UTSW	16	20399626	missense	probably damaging	1.00
R4866:Abcc5	UTSW	16	20422432	start codon destroyed	probably null	1.00
R4905:Abcc5	UTSW	16	20399928	missense	probably damaging	1.00
R4907:Abcc5	UTSW	16	20376546	missense	possibly damaging	0.86
R5088:Abcc5	UTSW	16	20376662	missense	probably damaging	1.00
R5232:Abcc5	UTSW	16	20338922	missense	probably damaging	0.96
R5559:Abcc5	UTSW	16	20338886	missense	probably damaging	1.00
R5647:Abcc5	UTSW	16	20399847	missense	probably damaging	1.00
R5861:Abcc5	UTSW	16	20399894	missense	probably damaging	1.00
R6190:Abcc5	UTSW	16	20392779	missense	probably benign	0.02
R6213:Abcc5	UTSW	16	20400012	missense	probably damaging	1.00
R6511:Abcc5	UTSW	16	20376594	missense	probably damaging	0.99
R6732:Abcc5	UTSW	16	20404684	missense	probably benign	0.01
R6815:Abcc5	UTSW	16	20333630	missense	probably damaging	1.00
R6913:Abcc5	UTSW	16	20378744	missense	possibly damaging	0.73
R6945:Abcc5	UTSW	16	20400009	missense	probably benign
R7167:Abcc5	UTSW	16	20405501	missense	possibly damaging	0.70
R7276:Abcc5	UTSW	16	20376508	splice site	probably null
R7318:Abcc5	UTSW	16	20392543	missense	probably benign	0.01
R7380:Abcc5	UTSW	16	20397034	missense	possibly damaging	0.84
R7419:Abcc5	UTSW	16	20422423	missense	possibly damaging	0.57
R7451:Abcc5	UTSW	16	20375070	missense	probably damaging	1.00
R7475:Abcc5	UTSW	16	20399989	missense	probably benign	0.04
R7567:Abcc5	UTSW	16	20405510	missense	probably damaging	1.00
R7601:Abcc5	UTSW	16	20375132	nonsense	probably null
R7623:Abcc5	UTSW	16	20344696	missense	possibly damaging	0.95
R7682:Abcc5	UTSW	16	20368053	missense	probably damaging	1.00
R8128:Abcc5	UTSW	16	20365723	missense	probably damaging	0.98
R8327:Abcc5	UTSW	16	20422318	missense	probably benign	0.00
R8518:Abcc5	UTSW	16	20404648	missense	possibly damaging	0.80
X0022:Abcc5	UTSW	16	20392587	missense	probably damaging	1.00
X0053:Abcc5	UTSW	16	20364042	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGGACAACAAGCCAGCAGTTTCTTC -3'
(R):5'- TGTGTAACACAGGACATGTGCCC -3'

Sequencing Primer
(F):5'- TTCTTAACAGTCTAGCTGACAAGCC -3'
(R):5'- AGGACATGTGCCCTTGTTAAGAC -3'

Posted On

2013-07-11