Mutagenetix > Incidental Mutation

Incidental Mutation 'R8214:Abcc3'

636320

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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94343295-94392997 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94363518 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 718 (R718H)

Ref Sequence

ENSEMBL: ENSMUSP00000136343 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021231
AA Change: R718H

PolyPhen 2 Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: R718H

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 damaging
Transcript: ENSMUST00000178136
AA Change: R718H

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: R718H

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: 99.7%
20x: 99.1%

Validation Efficiency

100% (42/42)

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: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	G	A	11: 58,286,621	R52Q		Het
Abcc4	T	C	14: 118,500,841	M1166V	probably benign	Het
Abhd16b	C	T	2: 181,494,190	T295I	probably damaging	Het
Amph	A	G	13: 19,104,298	N319S	possibly damaging	Het
Ankrd27	A	G	7: 35,614,519	D425G	probably damaging	Het
Atg4b	T	C	1: 93,784,887	S316P	probably damaging	Het
Brd4	A	G	17: 32,212,947	S649P	probably benign	Het
Bzw1	T	C	1: 58,405,037	S411P	probably damaging	Het
Dnah6	T	C	6: 73,044,728	D3537G	probably damaging	Het
Dnpep	A	T	1: 75,315,998	W126R	probably damaging	Het
Efcab2	T	C	1: 178,437,450	V27A	probably benign	Het
Kctd21	T	C	7: 97,347,341	L7P	probably damaging	Het
Kidins220	C	T	12: 24,994,855	T216I	probably damaging	Het
Lpl	T	A	8: 68,892,605	M87K	probably damaging	Het
Lrrc16a	T	C	13: 24,044,232	E987G	probably damaging	Het
Ltn1	A	G	16: 87,380,803	V1646A	probably benign	Het
Madcam1	A	G	10: 79,666,758	T359A	probably benign	Het
Muc5ac	A	G	7: 141,802,948	K1092E	possibly damaging	Het
Nrg2	T	C	18: 36,196,676	E162G	probably benign	Het
Olfr1333	A	T	4: 118,830,091	F117L	probably benign	Het
Olfr474	T	A	7: 107,954,967	S109T	probably benign	Het
Olfr589	A	C	7: 103,155,406	S114A	probably damaging	Het
Pcdhb5	G	T	18: 37,321,583	V339L	probably benign	Het
Plec	A	G	15: 76,192,284	W145R	unknown	Het
Polr3f	A	G	2: 144,536,310	N201D	probably benign	Het
Skint5	T	C	4: 113,804,942		probably null	Het
Slc12a2	A	G	18: 57,937,719	I1048V	probably benign	Het
Sult2a4	A	G	7: 13,989,476	I39T	probably benign	Het
Tenm4	T	C	7: 96,895,407	V2247A	probably damaging	Het
Tg	C	T	15: 66,773,398	R2385C	probably damaging	Het
Tomm70a	G	T	16: 57,121,967	A36S	unknown	Het
Top2b	G	A	14: 16,383,177	R55H	probably damaging	Het
Unc45b	A	G	11: 82,933,888	I629M	possibly damaging	Het
Vmn1r16	T	C	6: 57,323,439	E66G	noncoding transcript	Het
Vmn1r189	C	T	13: 22,102,131	V179I	probably benign	Het
Vmn2r105	T	G	17: 20,228,513	E134A	probably benign	Het
Wdr70	G	A	15: 7,887,370	A522V	probably benign	Het
Zcchc11	A	G	4: 108,512,150	I636V	probably benign	Het
Zfp184	T	A	13: 21,958,825	C234S	probably damaging	Het
Zscan5b	C	T	7: 6,233,947	P232S	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
R7320:Abcc3	UTSW	11	94367645	missense	probably benign	0.33
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
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
R9519:Abcc3	UTSW	11	94373979	missense	possibly damaging	0.52
R9658:Abcc3	UTSW	11	94372877	missense	possibly damaging	0.53
R9686:Abcc3	UTSW	11	94357041	missense	probably benign	0.30
R9722:Abcc3	UTSW	11	94359246	missense	probably damaging	0.99
R9723:Abcc3	UTSW	11	94359899	missense	probably benign	0.03
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'- TGGTACATGAACCCCTGAGC -3'
(R):5'- GAAGTCTTCTCTGGTGTCTGCC -3'

Sequencing Primer
(F):5'- CCCCTGAGCAAGTAAGAGAATCTG -3'
(R):5'- GTGTCTGCCTTACTCGGAG -3'

Posted On

2020-07-13