Mutagenetix > Incidental Mutation

Incidental Mutation 'R1270:Abcc3'

151285

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

039336-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1270 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94234121-94283823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 94248210 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 1129 (R1129Q)

Ref Sequence

ENSEMBL: ENSMUSP00000021231 (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: R1129Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: R1129Q

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

possibly damaging
Transcript: ENSMUST00000178136
AA Change: R1130Q

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: R1130Q

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

0.1564

Coding Region Coverage

1x: 98.9%
3x: 98.1%
10x: 95.5%
20x: 89.7%

Validation Efficiency

97% (36/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam7	T	A	14: 68,765,118 (GRCm39)	K93M	probably damaging	Het
Aldh1a2	T	G	9: 71,188,988 (GRCm39)	L301V	probably benign	Het
Alg9	A	G	9: 50,698,872 (GRCm39)		probably benign	Het
Aspg	C	T	12: 112,082,881 (GRCm39)	T187I	probably damaging	Het
Bltp1	T	A	3: 37,006,333 (GRCm39)	H1662Q	probably damaging	Het
C4a	A	G	17: 35,033,505 (GRCm39)		noncoding transcript	Het
Cdh2	T	G	18: 16,760,614 (GRCm39)		probably benign	Het
Ceacam1	T	C	7: 25,165,739 (GRCm39)		probably null	Het
Cep250	G	A	2: 155,832,601 (GRCm39)	V1509I	probably benign	Het
D130043K22Rik	T	C	13: 25,041,321 (GRCm39)	S248P	probably benign	Het
Dgkd	A	T	1: 87,861,847 (GRCm39)	M801L	probably damaging	Het
Edc4	A	G	8: 106,617,896 (GRCm39)	E1152G	possibly damaging	Het
Enkd1	A	G	8: 106,430,533 (GRCm39)	I334T	probably damaging	Het
Gli3	C	T	13: 15,898,329 (GRCm39)	A803V	probably benign	Het
Glrx3	A	G	7: 137,055,143 (GRCm39)	N95S	probably benign	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Kank2	A	T	9: 21,684,056 (GRCm39)	N724K	probably damaging	Het
Kctd20	A	G	17: 29,185,905 (GRCm39)	D416G	possibly damaging	Het
Lmtk3	A	G	7: 45,443,252 (GRCm39)	E645G	probably damaging	Het
Mrgpra9	A	T	7: 46,902,531 (GRCm39)		probably null	Het
Muc1	T	A	3: 89,139,414 (GRCm39)	Y605N	probably damaging	Het
Or4a47	C	T	2: 89,665,666 (GRCm39)	V208M	possibly damaging	Het
Or8g17	A	C	9: 38,930,543 (GRCm39)	I98R	possibly damaging	Het
Prx	T	A	7: 27,218,355 (GRCm39)	I952N	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Skint5	A	T	4: 113,799,856 (GRCm39)	Y90*	probably null	Het
Swt1	A	T	1: 151,260,142 (GRCm39)	N752K	probably benign	Het
Taar1	T	C	10: 23,796,431 (GRCm39)	V43A	probably damaging	Het
Tenm2	T	C	11: 35,932,486 (GRCm39)	N1702D	probably damaging	Het
Tff2	C	T	17: 31,363,143 (GRCm39)		probably null	Het
Trim2	G	A	3: 84,074,984 (GRCm39)	A686V	probably damaging	Het
Ube2q2l	A	T	6: 136,378,785 (GRCm39)	I15N	probably 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
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
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'- GGATTCAAGCTGTTTCTCCCGATCAC -3'
(R):5'- GTTCTCCAAGAAAGTGTAGGAAGCTCG -3'

Sequencing Primer
(F):5'- CAGCCATCTGTAGGGACCAAG -3'
(R):5'- TCGAGCGAGGCTTGTGG -3'

Posted On

2014-01-29