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 member 3

Synonyms

1700019L09Rik, MRP3

MMRRC Submission

067656-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8214 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94234121-94283823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94254344 bp (GRCm39)

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: 58,177,447 (GRCm39)	R52Q		Het
Abcc4	T	C	14: 118,738,253 (GRCm39)	M1166V	probably benign	Het
Abhd16b	C	T	2: 181,135,983 (GRCm39)	T295I	probably damaging	Het
Amph	A	G	13: 19,288,468 (GRCm39)	N319S	possibly damaging	Het
Ankrd27	A	G	7: 35,313,944 (GRCm39)	D425G	probably damaging	Het
Atg4b	T	C	1: 93,712,609 (GRCm39)	S316P	probably damaging	Het
Brd4	A	G	17: 32,431,921 (GRCm39)	S649P	probably benign	Het
Bzw1	T	C	1: 58,444,196 (GRCm39)	S411P	probably damaging	Het
Carmil1	T	C	13: 24,228,215 (GRCm39)	E987G	probably damaging	Het
Dnah6	T	C	6: 73,021,711 (GRCm39)	D3537G	probably damaging	Het
Dnpep	A	T	1: 75,292,642 (GRCm39)	W126R	probably damaging	Het
Efcab2	T	C	1: 178,265,015 (GRCm39)	V27A	probably benign	Het
Kctd21	T	C	7: 96,996,548 (GRCm39)	L7P	probably damaging	Het
Kidins220	C	T	12: 25,044,854 (GRCm39)	T216I	probably damaging	Het
Lpl	T	A	8: 69,345,257 (GRCm39)	M87K	probably damaging	Het
Ltn1	A	G	16: 87,177,691 (GRCm39)	V1646A	probably benign	Het
Madcam1	A	G	10: 79,502,592 (GRCm39)	T359A	probably benign	Het
Muc5ac	A	G	7: 141,356,685 (GRCm39)	K1092E	possibly damaging	Het
Nrg2	T	C	18: 36,329,729 (GRCm39)	E162G	probably benign	Het
Or10ak11	A	T	4: 118,687,288 (GRCm39)	F117L	probably benign	Het
Or52e2	A	C	7: 102,804,613 (GRCm39)	S114A	probably damaging	Het
Or5p54	T	A	7: 107,554,174 (GRCm39)	S109T	probably benign	Het
Pcdhb5	G	T	18: 37,454,636 (GRCm39)	V339L	probably benign	Het
Plec	A	G	15: 76,076,484 (GRCm39)	W145R	unknown	Het
Polr3f	A	G	2: 144,378,230 (GRCm39)	N201D	probably benign	Het
Skint5	T	C	4: 113,662,139 (GRCm39)		probably null	Het
Slc12a2	A	G	18: 58,070,791 (GRCm39)	I1048V	probably benign	Het
Sult2a4	A	G	7: 13,723,401 (GRCm39)	I39T	probably benign	Het
Tenm4	T	C	7: 96,544,614 (GRCm39)	V2247A	probably damaging	Het
Tg	C	T	15: 66,645,247 (GRCm39)	R2385C	probably damaging	Het
Tomm70a	G	T	16: 56,942,330 (GRCm39)	A36S	unknown	Het
Top2b	G	A	14: 16,383,177 (GRCm38)	R55H	probably damaging	Het
Tut4	A	G	4: 108,369,347 (GRCm39)	I636V	probably benign	Het
Unc45b	A	G	11: 82,824,714 (GRCm39)	I629M	possibly damaging	Het
Vmn1r16	T	C	6: 57,300,424 (GRCm39)	E66G	noncoding transcript	Het
Vmn1r189	C	T	13: 22,286,301 (GRCm39)	V179I	probably benign	Het
Vmn2r105	T	G	17: 20,448,775 (GRCm39)	E134A	probably benign	Het
Wdr70	G	A	15: 7,916,851 (GRCm39)	A522V	probably benign	Het
Zfp184	T	A	13: 22,142,995 (GRCm39)	C234S	probably damaging	Het
Zscan5b	C	T	7: 6,236,946 (GRCm39)	P232S	possibly damaging	Het

Other mutations in Abcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Abcc3	APN	11	94,234,611 (GRCm39)	splice site	probably benign
IGL01154:Abcc3	APN	11	94,250,058 (GRCm39)	splice site	probably benign
IGL01353:Abcc3	APN	11	94,242,934 (GRCm39)	missense	possibly damaging	0.88
IGL02553:Abcc3	APN	11	94,242,750 (GRCm39)	missense	probably damaging	1.00
IGL02795:Abcc3	APN	11	94,252,468 (GRCm39)	splice site	probably benign
IGL02928:Abcc3	APN	11	94,252,132 (GRCm39)	missense	possibly damaging	0.49
IGL02964:Abcc3	APN	11	94,242,636 (GRCm39)	missense	possibly damaging	0.93
IGL03006:Abcc3	APN	11	94,259,421 (GRCm39)	missense	probably benign	0.18
IGL03345:Abcc3	APN	11	94,250,163 (GRCm39)	missense	probably damaging	1.00
R0200:Abcc3	UTSW	11	94,245,900 (GRCm39)	missense	probably damaging	0.96
R0377:Abcc3	UTSW	11	94,265,922 (GRCm39)	missense	possibly damaging	0.90
R0812:Abcc3	UTSW	11	94,266,028 (GRCm39)	splice site	probably benign
R1269:Abcc3	UTSW	11	94,248,210 (GRCm39)	missense	probably damaging	1.00
R1270:Abcc3	UTSW	11	94,248,210 (GRCm39)	missense	probably damaging	1.00
R1375:Abcc3	UTSW	11	94,243,042 (GRCm39)	missense	possibly damaging	0.46
R1506:Abcc3	UTSW	11	94,248,144 (GRCm39)	missense	possibly damaging	0.89
R1525:Abcc3	UTSW	11	94,252,062 (GRCm39)	missense	probably benign	0.00
R1842:Abcc3	UTSW	11	94,250,438 (GRCm39)	missense	probably benign	0.00
R1868:Abcc3	UTSW	11	94,254,889 (GRCm39)	missense	probably benign	0.06
R2069:Abcc3	UTSW	11	94,255,243 (GRCm39)	missense	probably damaging	1.00
R2132:Abcc3	UTSW	11	94,258,426 (GRCm39)	missense	probably benign	0.18
R2257:Abcc3	UTSW	11	94,254,420 (GRCm39)	missense	probably damaging	1.00
R2395:Abcc3	UTSW	11	94,248,132 (GRCm39)	missense	possibly damaging	0.90
R2930:Abcc3	UTSW	11	94,252,636 (GRCm39)	missense	probably damaging	0.99
R3081:Abcc3	UTSW	11	94,247,802 (GRCm39)	missense	probably damaging	1.00
R3824:Abcc3	UTSW	11	94,259,446 (GRCm39)	critical splice acceptor site	probably null
R4385:Abcc3	UTSW	11	94,259,065 (GRCm39)	missense	probably damaging	0.99
R4425:Abcc3	UTSW	11	94,236,870 (GRCm39)	missense	probably damaging	0.98
R4464:Abcc3	UTSW	11	94,249,612 (GRCm39)	missense	probably benign	0.01
R4696:Abcc3	UTSW	11	94,241,817 (GRCm39)	missense	probably benign	0.01
R4877:Abcc3	UTSW	11	94,258,421 (GRCm39)	missense	probably damaging	0.98
R5172:Abcc3	UTSW	11	94,266,434 (GRCm39)	missense	probably damaging	1.00
R5586:Abcc3	UTSW	11	94,255,247 (GRCm39)	missense	probably damaging	1.00
R5682:Abcc3	UTSW	11	94,283,723 (GRCm39)	missense	probably benign	0.31
R5719:Abcc3	UTSW	11	94,241,894 (GRCm39)	missense	probably damaging	1.00
R5816:Abcc3	UTSW	11	94,234,563 (GRCm39)	missense	probably damaging	0.99
R5919:Abcc3	UTSW	11	94,248,132 (GRCm39)	missense	possibly damaging	0.90
R6222:Abcc3	UTSW	11	94,259,431 (GRCm39)	missense	probably benign	0.21
R6264:Abcc3	UTSW	11	94,264,824 (GRCm39)	missense	probably damaging	0.99
R6526:Abcc3	UTSW	11	94,250,198 (GRCm39)	missense	probably benign	0.21
R6782:Abcc3	UTSW	11	94,249,776 (GRCm39)	missense	probably damaging	1.00
R6889:Abcc3	UTSW	11	94,266,381 (GRCm39)	missense	possibly damaging	0.49
R6953:Abcc3	UTSW	11	94,265,661 (GRCm39)	missense	probably benign	0.03
R7054:Abcc3	UTSW	11	94,256,051 (GRCm39)	missense	probably benign	0.01
R7131:Abcc3	UTSW	11	94,255,857 (GRCm39)	missense	probably damaging	1.00
R7210:Abcc3	UTSW	11	94,264,767 (GRCm39)	missense	probably benign	0.03
R7283:Abcc3	UTSW	11	94,247,873 (GRCm39)	missense	probably benign	0.44
R7284:Abcc3	UTSW	11	94,247,873 (GRCm39)	missense	probably benign	0.44
R7285:Abcc3	UTSW	11	94,247,873 (GRCm39)	missense	probably benign	0.44
R7287:Abcc3	UTSW	11	94,247,873 (GRCm39)	missense	probably benign	0.44
R7320:Abcc3	UTSW	11	94,258,471 (GRCm39)	missense	probably benign	0.33
R7450:Abcc3	UTSW	11	94,252,521 (GRCm39)	missense	probably damaging	1.00
R7469:Abcc3	UTSW	11	94,259,014 (GRCm39)	missense	probably damaging	1.00
R7794:Abcc3	UTSW	11	94,249,697 (GRCm39)	missense	probably benign	0.12
R7851:Abcc3	UTSW	11	94,250,486 (GRCm39)	nonsense	probably null
R7861:Abcc3	UTSW	11	94,248,075 (GRCm39)	missense	probably null	1.00
R8036:Abcc3	UTSW	11	94,236,818 (GRCm39)	missense	possibly damaging	0.47
R8447:Abcc3	UTSW	11	94,254,886 (GRCm39)	missense	possibly damaging	0.49
R8558:Abcc3	UTSW	11	94,242,623 (GRCm39)	critical splice donor site	probably null
R8733:Abcc3	UTSW	11	94,249,627 (GRCm39)	missense	probably damaging	0.97
R8821:Abcc3	UTSW	11	94,241,787 (GRCm39)	missense	probably damaging	1.00
R8831:Abcc3	UTSW	11	94,241,787 (GRCm39)	missense	probably damaging	1.00
R9187:Abcc3	UTSW	11	94,255,913 (GRCm39)	missense	probably damaging	1.00
R9315:Abcc3	UTSW	11	94,265,576 (GRCm39)	missense	possibly damaging	0.72
R9519:Abcc3	UTSW	11	94,264,805 (GRCm39)	missense	possibly damaging	0.52
R9658:Abcc3	UTSW	11	94,263,703 (GRCm39)	missense	possibly damaging	0.53
R9686:Abcc3	UTSW	11	94,247,867 (GRCm39)	missense	probably benign	0.30
R9722:Abcc3	UTSW	11	94,250,072 (GRCm39)	missense	probably damaging	0.99
R9723:Abcc3	UTSW	11	94,250,725 (GRCm39)	missense	probably benign	0.03
X0064:Abcc3	UTSW	11	94,254,324 (GRCm39)	missense	probably benign	0.00
Z1176:Abcc3	UTSW	11	94,252,101 (GRCm39)	missense	probably benign	0.01
Z1177:Abcc3	UTSW	11	94,247,834 (GRCm39)	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