Mutagenetix > Incidental Mutations

Incidental Mutation 'R7320:Abcc3'

568159

Institutional Source

Beutler Lab

Gene Symbol

Abcc3

Ensembl Gene

ENSMUSG00000020865

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 3

Synonyms

MRP3, 1700019L09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7320 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

94343295-94392997 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94367645 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 458 (I458T)

Ref Sequence

ENSEMBL: ENSMUSP00000136343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021231] [ENSMUST00000178136]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021231
AA Change: I458T

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: I458T

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	101	123	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
transmembrane domain	172	190	N/A	INTRINSIC
Pfam:ABC_membrane	310	581	4.4e-43	PFAM
AAA	652	827	2.77e-10	SMART
Pfam:ABC_membrane	963	1235	3.2e-46	PFAM
AAA	1310	1495	2.66e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178136
AA Change: I458T

PolyPhen 2 Score 0.331 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: I458T

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
transmembrane domain	64	86	N/A	INTRINSIC
transmembrane domain	101	123	N/A	INTRINSIC
transmembrane domain	130	152	N/A	INTRINSIC
transmembrane domain	172	190	N/A	INTRINSIC
Pfam:ABC_membrane	310	581	4.8e-34	PFAM
AAA	652	827	2.77e-10	SMART
coiled coil region	854	883	N/A	INTRINSIC
Pfam:ABC_membrane	967	1236	8.6e-48	PFAM
AAA	1311	1496	2.66e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The 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 specific function of this protein has not yet been determined; however, this protein may play a role in the transport of biliary and intestinal excretion of organic anions. Alternatively spliced variants which encode different protein isoforms have been described; however, not all variants have been fully characterized. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene exhibit increased liver bile acid levels after bile duct ligation [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,464,303	K650*	probably null	Het
Adam29	A	G	8: 55,872,714	I235T	possibly damaging	Het
AF529169	A	G	9: 89,601,626	S573P	probably benign	Het
Afap1	G	A	5: 35,948,223	V174I	probably damaging	Het
Ak8	A	T	2: 28,812,992	D456V	probably damaging	Het
Alb	T	C	5: 90,464,987		probably null	Het
Alox12	C	T	11: 70,254,472	A92T	probably benign	Het
Arhgap23	T	C	11: 97,451,545	S218P	probably benign	Het
Blm	G	A	7: 80,455,354	Q1389*	probably null	Het
C1ql4	A	T	15: 99,087,724	V2E	unknown	Het
Casp12	A	G	9: 5,348,897		probably null	Het
Ccdc73	A	T	2: 104,999,176	I1065F	possibly damaging	Het
Ccdc83	C	T	7: 90,224,034	G371D	probably damaging	Het
Cfap65	A	G	1: 74,926,604	S416P	probably damaging	Het
Cftr	T	A	6: 18,319,013	C1351S	probably damaging	Het
Clcn4	A	T	7: 7,291,828	H311Q	probably benign	Het
Cldn13	T	G	5: 134,915,020	I104L	probably benign	Het
Cul9	A	G	17: 46,510,909	V1880A	possibly damaging	Het
Ddx17	A	T	15: 79,531,904	D407E	probably damaging	Het
Ddx28	G	A	8: 106,011,325	P34S	probably damaging	Het
Dnah5	A	T	15: 28,270,470	N973Y	probably null	Het
Dock10	A	G	1: 80,549,704		probably null	Het
Dock3	T	C	9: 106,895,524	D510G	probably benign	Het
Dst	T	A	1: 34,191,094	D2589E	probably benign	Het
E2f7	T	C	10: 110,764,130	Y249H	not run	Het
Eef2kmt	T	C	16: 5,250,509	Y69C	possibly damaging	Het
Erlin1	T	C	19: 44,059,065	Y139C	probably damaging	Het
Exog	G	T	9: 119,462,478	V274L	possibly damaging	Het
Fam83e	G	A	7: 45,722,472	V98M	probably benign	Het
Fras1	C	T	5: 96,709,886	T2013I	probably benign	Het
Gart	G	T	16: 91,621,681	A970E	probably benign	Het
Gga2	T	A	7: 122,002,103	H259L	probably benign	Het
Glis3	C	A	19: 28,531,598	V329F	probably damaging	Het
Gm6356	T	A	14: 6,972,923	N53I	probably damaging	Het
Golgb1	C	A	16: 36,915,951	C1894*	probably null	Het
Ifi203	T	C	1: 173,929,167	N350S	unknown	Het
Isy1	T	A	6: 87,833,706	R55S	unknown	Het
Itsn1	A	T	16: 91,839,699	D678V	unknown	Het
Lhcgr	T	A	17: 88,742,078	R673S	probably benign	Het
Lnx2	C	A	5: 147,020,133	R601L	possibly damaging	Het
Map4	A	G	9: 110,081,517	T1093A	probably benign	Het
Mink1	A	G	11: 70,599,073	K92E	probably benign	Het
Moxd1	A	G	10: 24,301,465	I560V	probably benign	Het
Mrc2	C	A	11: 105,329,235	D327E	possibly damaging	Het
Notch2	A	G	3: 98,131,327	E1262G	possibly damaging	Het
Olfr1025-ps1	A	T	2: 85,918,374	I150F	probably benign	Het
Olfr1052	GTACTTTTT	GT	2: 86,297,994		probably null	Het
Olfr123	T	A	17: 37,796,357	N304K	probably benign	Het
Olfr1298	A	G	2: 111,645,952	L15S	probably benign	Het
Olfr1434	G	A	19: 12,283,816	G256D	possibly damaging	Het
Olfr1477	T	A	19: 13,503,180	M279K	possibly damaging	Het
Olfr653	C	A	7: 104,580,438	S264*	probably null	Het
Olfr785	A	T	10: 129,409,785	T140S	possibly damaging	Het
Pcbp2	T	A	15: 102,473,347	V5E	probably damaging	Het
Pcp4l1	G	A	1: 171,174,465	A42V	possibly damaging	Het
Pgghg	A	T	7: 140,943,040	Y104F	probably benign	Het
Plscr2	T	C	9: 92,291,140		probably null	Het
Ppfibp1	C	T	6: 146,978,053	A25V	probably damaging	Het
Ptgfr	C	T	3: 151,835,397	G158D	probably benign	Het
Ptgs2	T	C	1: 150,102,695	F186S	probably damaging	Het
Ptpn14	A	G	1: 189,832,759	E181G	probably benign	Het
Rpgrip1	A	G	14: 52,131,216	K291E	possibly damaging	Het
Rtn4rl1	T	C	11: 75,194,296		probably null	Het
Sema3b	T	A	9: 107,600,942	M415L	probably benign	Het
Sh3bp4	A	G	1: 89,145,494	E688G	probably damaging	Het
Slco6c1	G	A	1: 97,128,162	R5C	possibly damaging	Het
Slmap	A	G	14: 26,460,072	F369L	possibly damaging	Het
Sphk2	T	C	7: 45,712,470	N181S	possibly damaging	Het
Sqor	A	G	2: 122,799,810	T235A	probably benign	Het
St13	A	G	15: 81,389,653	L80P	probably damaging	Het
St3gal6	A	G	16: 58,493,711	Y20H	probably benign	Het
Sun1	T	G	5: 139,248,484	Y899D	probably damaging	Het
Synm	C	T	7: 67,735,380	E845K	possibly damaging	Het
Tg	A	T	15: 66,694,784	D1227V	possibly damaging	Het
Thbs1	A	G	2: 118,114,957	N306D	possibly damaging	Het
Tmcc3	A	T	10: 94,578,495	N51Y	possibly damaging	Het
Usp4	A	G	9: 108,388,306	D856G	probably benign	Het
Vil1	G	A	1: 74,418,444	A79T	probably damaging	Het
Vmn1r119	T	A	7: 21,012,346	H37L	probably damaging	Het
Vmn2r110	A	T	17: 20,596,054	M69K	probably benign	Het
Wdr78	A	T	4: 103,050,187	I634N	possibly damaging	Het
Ywhaq	A	G	12: 21,394,981	L221P	probably damaging	Het
Zfp142	G	A	1: 74,570,008	Q1543*	probably null	Het
Zfp384	T	A	6: 125,024,830	M146K	possibly damaging	Het

Other mutations in Abcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Abcc3	APN	11	94343785	splice site	probably benign
IGL01154:Abcc3	APN	11	94359232	splice site	probably benign
IGL01353:Abcc3	APN	11	94352108	missense	possibly damaging	0.88
IGL02553:Abcc3	APN	11	94351924	missense	probably damaging	1.00
IGL02795:Abcc3	APN	11	94361642	splice site	probably benign
IGL02928:Abcc3	APN	11	94361306	missense	possibly damaging	0.49
IGL02964:Abcc3	APN	11	94351810	missense	possibly damaging	0.93
IGL03006:Abcc3	APN	11	94368595	missense	probably benign	0.18
IGL03345:Abcc3	APN	11	94359337	missense	probably damaging	1.00
R0200:Abcc3	UTSW	11	94355074	missense	probably damaging	0.96
R0377:Abcc3	UTSW	11	94375096	missense	possibly damaging	0.90
R0812:Abcc3	UTSW	11	94375202	splice site	probably benign
R1269:Abcc3	UTSW	11	94357384	missense	probably damaging	1.00
R1270:Abcc3	UTSW	11	94357384	missense	probably damaging	1.00
R1375:Abcc3	UTSW	11	94352216	missense	possibly damaging	0.46
R1506:Abcc3	UTSW	11	94357318	missense	possibly damaging	0.89
R1525:Abcc3	UTSW	11	94361236	missense	probably benign	0.00
R1842:Abcc3	UTSW	11	94359612	missense	probably benign	0.00
R1868:Abcc3	UTSW	11	94364063	missense	probably benign	0.06
R2069:Abcc3	UTSW	11	94364417	missense	probably damaging	1.00
R2132:Abcc3	UTSW	11	94367600	missense	probably benign	0.18
R2257:Abcc3	UTSW	11	94363594	missense	probably damaging	1.00
R2395:Abcc3	UTSW	11	94357306	missense	possibly damaging	0.90
R2930:Abcc3	UTSW	11	94361810	missense	probably damaging	0.99
R3081:Abcc3	UTSW	11	94356976	missense	probably damaging	1.00
R3824:Abcc3	UTSW	11	94368620	critical splice acceptor site	probably null
R4385:Abcc3	UTSW	11	94368239	missense	probably damaging	0.99
R4425:Abcc3	UTSW	11	94346044	missense	probably damaging	0.98
R4464:Abcc3	UTSW	11	94358786	missense	probably benign	0.01
R4696:Abcc3	UTSW	11	94350991	missense	probably benign	0.01
R4877:Abcc3	UTSW	11	94367595	missense	probably damaging	0.98
R5172:Abcc3	UTSW	11	94375608	missense	probably damaging	1.00
R5586:Abcc3	UTSW	11	94364421	missense	probably damaging	1.00
R5682:Abcc3	UTSW	11	94392897	missense	probably benign	0.31
R5719:Abcc3	UTSW	11	94351068	missense	probably damaging	1.00
R5816:Abcc3	UTSW	11	94343737	missense	probably damaging	0.99
R5919:Abcc3	UTSW	11	94357306	missense	possibly damaging	0.90
R6222:Abcc3	UTSW	11	94368605	missense	probably benign	0.21
R6264:Abcc3	UTSW	11	94373998	missense	probably damaging	0.99
R6526:Abcc3	UTSW	11	94359372	missense	probably benign	0.21
R6782:Abcc3	UTSW	11	94358950	missense	probably damaging	1.00
R6889:Abcc3	UTSW	11	94375555	missense	possibly damaging	0.49
R6953:Abcc3	UTSW	11	94374835	missense	probably benign	0.03
R7054:Abcc3	UTSW	11	94365225	missense	probably benign	0.01
R7131:Abcc3	UTSW	11	94365031	missense	probably damaging	1.00
R7210:Abcc3	UTSW	11	94373941	missense	probably benign	0.03
R7283:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7284:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7285:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7287:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7450:Abcc3	UTSW	11	94361695	missense	probably damaging	1.00
R7469:Abcc3	UTSW	11	94368188	missense	probably damaging	1.00
R7794:Abcc3	UTSW	11	94358871	missense	probably benign	0.12
R7851:Abcc3	UTSW	11	94359660	nonsense	probably null
R7861:Abcc3	UTSW	11	94357249	missense	probably null	1.00
R8036:Abcc3	UTSW	11	94345992	missense	possibly damaging	0.47
R8214:Abcc3	UTSW	11	94363518	missense	probably damaging	0.96
R8447:Abcc3	UTSW	11	94364060	missense	possibly damaging	0.49
R8558:Abcc3	UTSW	11	94351797	critical splice donor site	probably null
R8733:Abcc3	UTSW	11	94358801	missense	probably damaging	0.97
R8821:Abcc3	UTSW	11	94350961	missense	probably damaging	1.00
R8831:Abcc3	UTSW	11	94350961	missense	probably damaging	1.00
R9187:Abcc3	UTSW	11	94365087	missense	probably damaging	1.00
R9315:Abcc3	UTSW	11	94374750	missense	possibly damaging	0.72
X0064:Abcc3	UTSW	11	94363498	missense	probably benign	0.00
Z1176:Abcc3	UTSW	11	94361275	missense	probably benign	0.01
Z1177:Abcc3	UTSW	11	94357008	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTTCCCCATTCAGTAGAGGGAG -3'
(R):5'- ATGCCAACACAACCAGTTTG -3'

Sequencing Primer
(F):5'- CCCATTCAGTAGAGGGAGTGGAG -3'
(R):5'- CTTCTCCAAGGGTGCTACTGG -3'

Posted On

2019-06-26