Mutagenetix > Incidental Mutation

Incidental Mutation 'R2069:Abcc3'

226966

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

040074-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2069 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94234121-94283823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 94255243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 601 (I601N)

Ref Sequence

ENSEMBL: ENSMUSP00000136343 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000021231
AA Change: I601N

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: I601N

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

noncoding transcript
Transcript: ENSMUST00000151124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155253

Predicted Effect

probably damaging
Transcript: ENSMUST00000178136
AA Change: I601N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: I601N

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

Meta Mutation Damage Score

0.9490

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (104/104)

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: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519G04Rik	T	C	5: 115,012,341 (GRCm39)	V86A	probably benign	Het
Abl2	T	A	1: 156,448,397 (GRCm39)		probably null	Het
Adgrf4	C	T	17: 42,977,789 (GRCm39)	R518Q	possibly damaging	Het
Ahi1	C	T	10: 20,835,895 (GRCm39)	T76I	probably damaging	Het
Arhgap42	C	T	9: 9,035,601 (GRCm39)	G247D	probably damaging	Het
Arid2	C	T	15: 96,260,471 (GRCm39)	L407F	probably damaging	Het
Atp13a1	T	C	8: 70,252,423 (GRCm39)	F606L	probably benign	Het
Avl9	T	A	6: 56,713,420 (GRCm39)		probably benign	Het
B3glct	C	T	5: 149,632,845 (GRCm39)	A65V	probably damaging	Het
Bcorl1	T	C	X: 47,490,794 (GRCm39)		probably benign	Het
Bdp1	T	C	13: 100,187,496 (GRCm39)	T1624A	probably benign	Het
Bmp15	A	G	X: 6,228,075 (GRCm39)	M263T	probably benign	Het
Brd8	T	C	18: 34,747,532 (GRCm39)	K110E	probably damaging	Het
Cachd1	A	G	4: 100,848,041 (GRCm39)	D1052G	probably damaging	Het
Capn9	G	A	8: 125,332,450 (GRCm39)	G430R	possibly damaging	Het
Ccdc113	G	A	8: 96,283,924 (GRCm39)	E333K	probably benign	Het
Ccnl2	A	T	4: 155,896,938 (GRCm39)		probably null	Het
Ccr9	T	C	9: 123,608,429 (GRCm39)	F37S	probably benign	Het
Cdh20	A	T	1: 110,065,889 (GRCm39)	D721V	probably damaging	Het
Ceacam10	A	T	7: 24,477,797 (GRCm39)	N104I	probably damaging	Het
Cenpk	T	A	13: 104,372,684 (GRCm39)		probably benign	Het
Cfi	A	G	3: 129,652,453 (GRCm39)		probably null	Het
Chd1	T	C	17: 15,962,556 (GRCm39)	F771S	probably damaging	Het
Chil4	G	A	3: 106,126,771 (GRCm39)	L4F	probably benign	Het
Cilp	G	A	9: 65,185,372 (GRCm39)	R489Q	possibly damaging	Het
Cntnap5b	G	A	1: 100,286,450 (GRCm39)	G402R	probably benign	Het
Coq8b	A	G	7: 26,956,802 (GRCm39)	E485G	probably damaging	Het
Cse1l	A	G	2: 166,783,412 (GRCm39)	S733G	probably benign	Het
Dnah5	G	A	15: 28,312,534 (GRCm39)		probably null	Het
Dnmt3l	T	C	10: 77,888,566 (GRCm39)	V156A	probably damaging	Het
Duox1	A	T	2: 122,163,543 (GRCm39)	T792S	probably benign	Het
Duox2	T	C	2: 122,117,589 (GRCm39)	D915G	probably benign	Het
Efcab5	A	T	11: 77,063,147 (GRCm39)	M115K	probably benign	Het
Eif2s1	G	A	12: 78,923,959 (GRCm39)	D139N	probably benign	Het
Erg	A	G	16: 95,161,937 (GRCm39)	F390L	probably damaging	Het
Fam193b	A	T	13: 55,690,811 (GRCm39)	S650R	probably damaging	Het
Fbp2	T	A	13: 63,001,875 (GRCm39)	K113N	possibly damaging	Het
Fnbp4	T	G	2: 90,588,716 (GRCm39)	S496A	probably damaging	Het
Gab3	C	A	X: 74,043,701 (GRCm39)	R475L	probably damaging	Het
Gsap	T	C	5: 21,431,837 (GRCm39)		probably benign	Het
Gucy1a2	C	T	9: 3,582,697 (GRCm39)	L160F	probably damaging	Het
Hivep1	C	T	13: 42,337,262 (GRCm39)	A2447V	possibly damaging	Het
Insc	G	T	7: 114,403,828 (GRCm39)		probably null	Het
Jph2	A	G	2: 163,181,605 (GRCm39)	S520P	possibly damaging	Het
Kidins220	T	A	12: 25,037,005 (GRCm39)		probably benign	Het
Krtap29-1	A	G	11: 99,869,438 (GRCm39)	S148P	probably damaging	Het
Ltbp2	A	C	12: 84,840,507 (GRCm39)	C1000G	probably damaging	Het
Map2k3	T	C	11: 60,840,853 (GRCm39)	F294S	probably damaging	Het
Map4k2	C	A	19: 6,392,768 (GRCm39)		probably benign	Het
Mboat2	T	C	12: 25,001,442 (GRCm39)	V281A	probably benign	Het
Mdga2	G	A	12: 66,615,691 (GRCm39)	R570*	probably null	Het
Mlxipl	A	G	5: 135,135,859 (GRCm39)	D28G	probably damaging	Het
Morc2b	T	C	17: 33,355,734 (GRCm39)	I679M	probably benign	Het
Myh4	T	C	11: 67,137,192 (GRCm39)		probably benign	Het
Nfib	A	C	4: 82,416,852 (GRCm39)	L61R	probably damaging	Het
Noc2l	C	A	4: 156,325,907 (GRCm39)	Y227*	probably null	Het
Nrde2	A	G	12: 100,108,491 (GRCm39)	S367P	probably damaging	Het
Nup93	C	A	8: 94,970,367 (GRCm39)	P89T	probably damaging	Het
Obsl1	G	A	1: 75,486,756 (GRCm38)	T1764M	probably benign	Het
Or10a2	A	T	7: 106,673,826 (GRCm39)	K264*	probably null	Het
Or11h4	T	A	14: 50,974,033 (GRCm39)	E195D	possibly damaging	Het
Or4a68	C	T	2: 89,269,927 (GRCm39)	R232H	probably benign	Het
Or4k77	A	G	2: 111,199,440 (GRCm39)	I154M	probably benign	Het
Or6b9	A	T	7: 106,555,494 (GRCm39)	Y216*	probably null	Het
Or9r7	A	G	10: 129,962,074 (GRCm39)	I284T	possibly damaging	Het
Oxct1	G	T	15: 4,122,007 (GRCm39)	A319S	probably null	Het
P2ry10	A	G	X: 106,146,859 (GRCm39)	S265G	probably benign	Het
Peak1	A	T	9: 56,166,043 (GRCm39)	N628K	probably damaging	Het
Pkdrej	T	A	15: 85,705,432 (GRCm39)	Q168L	probably benign	Het
Plaat5	T	C	19: 7,590,003 (GRCm39)	S10P	possibly damaging	Het
Plec	A	G	15: 76,073,126 (GRCm39)	M604T	probably benign	Het
Pmfbp1	A	T	8: 110,258,735 (GRCm39)	N680I	possibly damaging	Het
Pnma8b	T	C	7: 16,679,714 (GRCm39)	W233R	probably damaging	Het
Pxn	A	G	5: 115,683,726 (GRCm39)	N186S	probably benign	Het
Rsad1	A	C	11: 94,439,951 (GRCm39)		probably benign	Het
Runx2	A	G	17: 45,046,229 (GRCm39)	I112T	probably benign	Het
S1pr2	A	T	9: 20,878,790 (GRCm39)	L346Q	probably damaging	Het
Skint6	A	G	4: 113,095,329 (GRCm39)	I110T	probably damaging	Het
Slc36a4	T	A	9: 15,638,276 (GRCm39)	F234Y	probably damaging	Het
Slitrk2	T	A	X: 65,698,235 (GRCm39)	V242D	probably damaging	Het
Sp100	A	G	1: 85,608,863 (GRCm39)		probably null	Het
Spryd3	A	C	15: 102,026,616 (GRCm39)	L352V	probably benign	Het
Ssc4d	A	C	5: 135,999,171 (GRCm39)	W11G	possibly damaging	Het
Stx17	T	A	4: 48,158,870 (GRCm39)	D83E	probably damaging	Het
Tlk2	A	T	11: 105,131,266 (GRCm39)	Q204L	probably benign	Het
Tnfrsf21	A	T	17: 43,348,829 (GRCm39)	H147L	possibly damaging	Het
Tnrc18	A	T	5: 142,751,842 (GRCm39)	D1154E	unknown	Het
Trap1	A	G	16: 3,886,200 (GRCm39)	S86P	probably benign	Het
Trim32	T	A	4: 65,533,013 (GRCm39)	C523*	probably null	Het
Ttc38	G	T	15: 85,722,989 (GRCm39)	D146Y	probably damaging	Het
Ttc9	T	A	12: 81,678,570 (GRCm39)	L131Q	probably damaging	Het
Ttn	T	C	2: 76,557,192 (GRCm39)		probably benign	Het
Ttn	C	T	2: 76,643,683 (GRCm39)	G11436R	probably damaging	Het
Ubash3b	G	A	9: 40,954,869 (GRCm39)	P92S	possibly damaging	Het
Ube4a	T	C	9: 44,859,397 (GRCm39)	N367S	probably damaging	Het
Ubr4	T	A	4: 139,206,851 (GRCm39)	H4899Q	possibly damaging	Het
Ufl1	C	T	4: 25,269,036 (GRCm39)	G265D	possibly damaging	Het
Vmn2r27	T	A	6: 124,201,442 (GRCm39)	I172F	probably damaging	Het
Vmn2r6	A	T	3: 64,463,519 (GRCm39)	H438Q	possibly damaging	Het
Vmn2r61	A	G	7: 41,949,425 (GRCm39)	D615G	probably benign	Het
Wdr24	T	A	17: 26,045,256 (GRCm39)	D330E	probably damaging	Het
Zbbx	A	T	3: 74,985,719 (GRCm39)	N444K	probably benign	Het
Zc3h7b	A	T	15: 81,676,529 (GRCm39)	Q757L	probably damaging	Het
Zpld2	T	G	4: 133,929,252 (GRCm39)	N351T	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
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
R8214:Abcc3	UTSW	11	94,254,344 (GRCm39)	missense	probably damaging	0.96
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'- CAGTGGGTCTAGGACATTGG -3'
(R):5'- GACCTTCTCTTCAGGCAGTG -3'

Sequencing Primer
(F):5'- AGAGGATCCCTGGAGCAC -3'
(R):5'- CTTCTCTTCAGGCAGTGGGAGC -3'

Posted On

2014-09-17