Mutagenetix > Incidental Mutation

Incidental Mutation 'R1801:Abcc5'

203175

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

039831-MU

Accession Numbers

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1801 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20331303-20426394 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20338887 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1307 (M1307V)

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: M1307V

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000078158
Gene: ENSMUSG00000022822
AA Change: M1307V

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: M1307V

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111209
Gene: ENSMUSG00000022822
AA Change: M1307V

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: ENSMUST00000134413

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148003

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.5%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	T	C	10: 79,067,396	E362G	probably damaging	Het
Adamts9	A	G	6: 92,863,376	V1142A	probably benign	Het
Ano10	T	C	9: 122,253,030	N525S	probably damaging	Het
Bpifa2	T	C	2: 154,011,504		probably null	Het
C7	C	T	15: 5,012,021	V468I	possibly damaging	Het
Carf	A	T	1: 60,141,505	H362L	possibly damaging	Het
Ccdc171	A	C	4: 83,546,895	I37L	probably benign	Het
Ccdc182	T	C	11: 88,294,190	L32P	possibly damaging	Het
Celsr3	A	T	9: 108,834,626	D1678V	possibly damaging	Het
Col7a1	A	T	9: 108,960,997	Y920F	unknown	Het
Cpsf3	T	C	12: 21,313,790	V627A	probably benign	Het
D7Ertd443e	A	G	7: 134,270,212	M640T	probably damaging	Het
Ddi2	T	C	4: 141,683,972	D543G	probably damaging	Het
Dnah9	T	C	11: 65,955,297	N2972D	probably damaging	Het
Dnajc18	T	C	18: 35,680,804	D304G	probably damaging	Het
Epg5	T	C	18: 77,983,490	V1232A	possibly damaging	Het
Ezr	T	C	17: 6,742,372	T358A	possibly damaging	Het
Filip1	A	G	9: 79,815,846	S1164P	probably damaging	Het
Gm14085	C	T	2: 122,521,652	R324C	possibly damaging	Het
Gm5346	A	T	8: 43,625,917	C423*	probably null	Het
Gmip	T	C	8: 69,814,477	V341A	probably benign	Het
Gnb3	A	C	6: 124,835,636	F286V	probably benign	Het
Gpatch2	T	A	1: 187,225,831	S128T	probably benign	Het
Gpr87	T	C	3: 59,179,392	R231G	possibly damaging	Het
Hip1r	G	A	5: 123,998,808	R613Q	probably benign	Het
Hsd3b7	T	C	7: 127,803,034	Y284H	possibly damaging	Het
Il1rap	A	T	16: 26,698,875	D275V	probably damaging	Het
Il4	G	T	11: 53,618,538	H23Q	possibly damaging	Het
Kit	A	G	5: 75,648,393	Y749C	probably damaging	Het
Klb	A	G	5: 65,349,235	K275R	probably null	Het
Klhl12	G	T	1: 134,489,070	R510L	probably damaging	Het
Lrrc8b	A	G	5: 105,480,823	Y345C	probably damaging	Het
Med15	T	C	16: 17,680,735	T98A	possibly damaging	Het
Mmp1a	T	A	9: 7,475,390	Y387N	probably damaging	Het
Myrf	C	A	19: 10,214,191	V928L	probably benign	Het
Nr1d1	T	C	11: 98,771,499	K134E	probably damaging	Het
Nrxn3	A	T	12: 90,283,582	D305V	probably damaging	Het
Obscn	A	C	11: 58,998,321	S7542A	unknown	Het
Olfr1197	T	A	2: 88,729,264	I112F	probably damaging	Het
Pak4	G	A	7: 28,565,190	R96C	probably damaging	Het
Papd5	T	G	8: 88,250,788	V406G	probably benign	Het
Pde6b	A	T	5: 108,427,847	D691V	possibly damaging	Het
Pdss2	A	G	10: 43,345,605	E171G	probably benign	Het
Pdzd2	C	T	15: 12,387,654	V873I	possibly damaging	Het
Plb1	A	T	5: 32,293,243	D376V	probably damaging	Het
Plekhg1	T	C	10: 3,963,904	Y1209H	probably damaging	Het
Prickle2	A	G	6: 92,416,904	C263R	probably damaging	Het
Psma2	A	T	13: 14,623,605	Y104F	probably benign	Het
Ptger4	T	A	15: 5,242,800	M113L	possibly damaging	Het
Rgs10	T	G	7: 128,404,477	D17A	possibly damaging	Het
Rpap3	A	G	15: 97,694,209	S189P	possibly damaging	Het
Rsbn1	T	C	3: 103,914,872	L102P	probably damaging	Het
Ryr2	T	C	13: 11,595,281	S655G	probably benign	Het
Samd4b	A	T	7: 28,407,331		probably null	Het
Sema4a	C	T	3: 88,436,749	D732N	probably benign	Het
Sh3bp5l	A	G	11: 58,346,351	D378G	probably benign	Het
Sh3gl3	C	T	7: 82,284,119	T230I	possibly damaging	Het
Slc5a1	A	T	5: 33,146,953	Q299L	probably damaging	Het
Ssc5d	C	A	7: 4,936,607	H681N	probably benign	Het
Sugp2	T	C	8: 70,236,710	S10P	possibly damaging	Het
Supt5	A	G	7: 28,317,214		probably null	Het
Syna	A	G	5: 134,560,089	V2A	probably benign	Het
Tcp1	T	A	17: 12,922,202	Y299*	probably null	Het
Tenm3	C	A	8: 48,276,256	V1572L	probably benign	Het
Trp53rka	A	G	2: 165,491,613	S119P	probably damaging	Het
Ubr4	T	A	4: 139,452,563		probably null	Het
Uchl4	T	A	9: 64,235,475	D79E	probably benign	Het
Vmn2r17	C	A	5: 109,428,478	T405K	probably damaging	Het
Xpnpep1	A	G	19: 53,010,133	L228P	probably damaging	Het
Xrcc4	T	G	13: 89,992,579	E170D	probably damaging	Het
Zfp945	T	C	17: 22,851,762	T388A	probably damaging	Het
Zfp947	G	A	17: 22,146,462	A77V	probably benign	Het
Zkscan5	G	A	5: 145,220,205	G433R	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
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
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
R8678:Abcc5	UTSW	16	20365935	missense	probably benign	0.31
R8679:Abcc5	UTSW	16	20333729	missense	possibly damaging	0.89
R9206:Abcc5	UTSW	16	20389389	missense	probably benign	0.00
R9254:Abcc5	UTSW	16	20333687	missense	probably damaging	1.00
R9379:Abcc5	UTSW	16	20333687	missense	probably damaging	1.00
R9501:Abcc5	UTSW	16	20396103	missense	probably damaging	1.00
R9647:Abcc5	UTSW	16	20376560	missense	probably benign	0.01
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'- ACACTGACTTTGGGATGCATG -3'
(R):5'- CCAGCCATTGAAATGTGGTTTG -3'

Sequencing Primer
(F):5'- CATGTGAAATGCCTGTGAGCTCC -3'
(R):5'- GGCCAGCAAAGTGAGTTCTACTAC -3'

Posted On

2014-06-23