Mutagenetix > Incidental Mutation

Incidental Mutation 'R1375:Abcc3'

157483

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

039439-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1375 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94234121-94283823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94243042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1268 (V1268A)

Ref Sequence

ENSEMBL: ENSMUSP00000021231 (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: V1268A

PolyPhen 2 Score 0.464 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: V1268A

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: ENSMUST00000140985

Predicted Effect

probably benign
Transcript: ENSMUST00000178136
AA Change: V1269A

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: V1269A

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

0.0616

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.8%
20x: 89.3%

Validation Efficiency

100% (33/33)

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ccng1	G	A	11: 40,642,941 (GRCm39)	P169S	probably benign	Het
Cep85l	A	T	10: 53,225,354 (GRCm39)	D78E	probably damaging	Het
Csmd1	C	A	8: 16,513,095 (GRCm39)		probably null	Het
Dapk2	C	G	9: 66,127,925 (GRCm39)	R68G	probably damaging	Het
Defb15	T	C	8: 22,420,071 (GRCm39)	N19D	possibly damaging	Het
Dnah8	G	A	17: 30,956,269 (GRCm39)	G2083D	probably damaging	Het
Ggn	T	C	7: 28,871,366 (GRCm39)	S249P	probably damaging	Het
Gm17541	A	T	12: 4,739,825 (GRCm39)		probably benign	Het
Gnptab	T	A	10: 88,268,435 (GRCm39)	L514Q	probably damaging	Het
Heg1	C	A	16: 33,547,246 (GRCm39)	H678N	possibly damaging	Het
Heg1	T	C	16: 33,547,679 (GRCm39)	I846T	possibly damaging	Het
Hydin	G	A	8: 111,232,854 (GRCm39)		probably null	Het
Il17b	T	C	18: 61,823,325 (GRCm39)	V53A	probably benign	Het
Inpp5f	T	A	7: 128,265,753 (GRCm39)	L166*	probably null	Het
Mdfic2	C	T	6: 98,215,260 (GRCm39)	C121Y	possibly damaging	Het
Myh9	A	T	15: 77,653,568 (GRCm39)		probably null	Het
Nsrp1	A	G	11: 76,941,543 (GRCm39)		probably benign	Het
Nup205	T	C	6: 35,177,006 (GRCm39)		probably benign	Het
Olr1	T	C	6: 129,484,039 (GRCm39)	N11S	possibly damaging	Het
Or5w1b	T	A	2: 87,476,081 (GRCm39)	N129Y	probably damaging	Het
Or6b6	A	G	7: 106,571,305 (GRCm39)	L82P	probably damaging	Het
Or6c211	A	T	10: 129,506,241 (GRCm39)	L12Q	probably null	Het
Or8b46	T	A	9: 38,450,830 (GRCm39)	V213D	possibly damaging	Het
Pipox	C	A	11: 77,772,036 (GRCm39)	E363*	probably null	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rpp30	T	C	19: 36,078,673 (GRCm39)		probably null	Het
Septin1	T	C	7: 126,817,333 (GRCm39)	D25G	probably damaging	Het
Stk17b	T	C	1: 53,805,106 (GRCm39)	N152D	possibly damaging	Het
Tasor2	A	G	13: 3,626,029 (GRCm39)	V1307A	probably benign	Het
Thsd7b	A	T	1: 130,087,423 (GRCm39)	N1180I	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
R1270:Abcc3	UTSW	11	94,248,210 (GRCm39)	missense	probably damaging	1.00
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'- GCACTTCCAGGTTTCCATCAGTAGC -3'
(R):5'- GGACTGCCTGATTTTGGAGAAGCAC -3'

Sequencing Primer
(F):5'- CGGTCCTCCCAACAAGG -3'
(R):5'- AGTGACAACATGCTTGCCTG -3'

Posted On

2014-02-18