Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4508001:Abcc5'

556246

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

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 #

PIT4508001 (G1)

Quality Score

116.008

Status

Not validated

Chromosome

Chromosomal Location

20331303-20426394 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20357378 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1228 (T1228A)

Ref Sequence

ENSEMBL: ENSMUSP00000078158 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000079158
AA Change: T1228A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: T1228A

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: T1228A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: T1228A

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

Coding Region Coverage

1x: 93.4%
3x: 90.7%
10x: 84.6%
20x: 71.6%

Validation Efficiency

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	A	T	6: 83,513,007	I370N	possibly damaging	Het
Ankrd36	A	G	11: 5,607,137	T330A	possibly damaging	Het
Atrip	C	T	9: 109,073,989	A6T	possibly damaging	Het
Bms1	G	A	6: 118,383,806	R1234C	probably benign	Het
Cacnb2	A	T	2: 14,984,419	T487S	probably benign	Het
Col4a3bp	T	C	13: 96,630,776	F478S	probably damaging	Het
Esco2	A	T	14: 65,831,465	V132E	probably damaging	Het
Gjb5	A	T	4: 127,356,240	L37Q	probably damaging	Het
Gm8020	T	A	14: 42,502,277	Y24F		Het
H2-Q6	T	C	17: 35,425,820	L195P	probably damaging	Het
Hc	T	C	2: 34,984,804	T1602A	probably damaging	Het
Hcrtr2	A	T	9: 76,246,380	Y243*	probably null	Het
Hist1h2bg	CTCGACCATCACGTC	CTC	13: 23,571,693		probably benign	Het
Itga3	T	C	11: 95,055,893	H730R	probably benign	Het
Kif1a	A	T	1: 93,046,729	L866Q	probably damaging	Het
Krt81	A	T	15: 101,462,725	L127Q	probably damaging	Het
Mdn1	T	C	4: 32,719,223	I2262T	probably damaging	Het
Mxd3	A	T	13: 55,325,894	D170E	probably benign	Het
Myh2	A	G	11: 67,185,505	M811V	probably benign	Het
Naa16	A	T	14: 79,369,087	D335E	probably benign	Het
Nkd1	A	G	8: 88,522,400	T58A	probably benign	Het
Ogfrl1	T	A	1: 23,370,270	R292*	probably null	Het
Olfr1136	G	A	2: 87,693,715	H56Y	probably damaging	Het
Olfr589	T	A	7: 103,155,313	M145L	probably benign	Het
Pom121l12	A	G	11: 14,599,689	R132G	possibly damaging	Het
Prss46	A	G	9: 110,851,416	K210E	probably damaging	Het
Scn8a	T	C	15: 101,029,692	Y1351H	probably damaging	Het
Shisa9	G	A	16: 12,267,480	V318I	probably benign	Het
Slc41a2	T	G	10: 83,254,880	H480P	probably damaging	Het
Slc45a1	C	A	4: 150,638,435	A331S	probably benign	Het
Smg1	A	T	7: 118,185,541	F885I	unknown	Het
Speer4f1	T	C	5: 17,480,414	S236P	unknown	Het
Zfp326	A	T	5: 105,914,690	Q475L	probably benign	Het
Zzef1	T	G	11: 72,895,176	V2058G	probably benign	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
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
R0601:Abcc5	UTSW	16	20404559	splice site	probably benign
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'- ACTGTGACTGAGAGCAAGTCAC -3'
(R):5'- TGGAAGCACCTGCCAGAATC -3'

Sequencing Primer
(F):5'- GTCACACTGAAAGCTCTGCCTG -3'
(R):5'- TGCCAGAATCAAGAACAAGGCTC -3'

Posted On

2019-06-07