Mutagenetix > Incidental Mutation

Incidental Mutation 'R1868:Abcc3'

208978

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

039890-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1868 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94234121-94283823 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 94254889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 638 (D638A)

Ref Sequence

ENSEMBL: ENSMUSP00000136343 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000021231
AA Change: D638A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: D638A

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 benign
Transcript: ENSMUST00000178136
AA Change: D638A

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: D638A

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

0.1373

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.0%

Validation Efficiency

97% (115/118)

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: 115 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130230L23Rik	A	T	5: 66,157,560 (GRCm39)	M1K	probably null	Het
A630073D07Rik	C	T	6: 132,603,457 (GRCm39)	E100K	unknown	Het
Acadm	T	C	3: 153,635,889 (GRCm39)	I272V	probably benign	Het
Adam2	G	A	14: 66,315,107 (GRCm39)	T22I	probably damaging	Het
Aldh3b1	G	A	19: 3,971,271 (GRCm39)		probably benign	Het
Arfgef3	A	T	10: 18,537,135 (GRCm39)	I182K	probably benign	Het
Arhgef17	A	G	7: 100,528,184 (GRCm39)	S677P	probably benign	Het
Atp2b1	T	C	10: 98,832,750 (GRCm39)	V417A	probably damaging	Het
Brca1	T	A	11: 101,388,839 (GRCm39)	H1675L	probably benign	Het
Brd10	A	T	19: 29,720,998 (GRCm39)	S743T	probably damaging	Het
Btd	G	T	14: 31,389,266 (GRCm39)	G329V	probably benign	Het
Capsl	T	A	15: 9,461,916 (GRCm39)	L104*	probably null	Het
Cbx1	T	C	11: 96,693,554 (GRCm39)	S107P	probably benign	Het
Cd207	G	T	6: 83,648,683 (GRCm39)	Y326*	probably null	Het
Cenpp	T	C	13: 49,794,759 (GRCm39)	D136G	probably damaging	Het
Chsy3	A	G	18: 59,309,560 (GRCm39)		probably null	Het
Cntrl	T	A	2: 35,019,827 (GRCm39)	H551Q	probably benign	Het
Col14a1	T	A	15: 55,310,858 (GRCm39)		probably benign	Het
Cybrd1	T	A	2: 70,967,978 (GRCm39)	F183Y	possibly damaging	Het
D5Ertd579e	G	A	5: 36,773,771 (GRCm39)	S208L	probably damaging	Het
Dlg2	A	T	7: 92,036,160 (GRCm39)	K719*	probably null	Het
Dppa1	A	T	11: 46,516,393 (GRCm39)		probably null	Het
Dse	A	G	10: 34,029,284 (GRCm39)	V602A	possibly damaging	Het
Elapor2	T	A	5: 9,529,251 (GRCm39)	I1028K	probably damaging	Het
Elmo1	C	T	13: 20,773,823 (GRCm39)	A611V	possibly damaging	Het
Ets2	T	C	16: 95,516,118 (GRCm39)	S233P	probably benign	Het
Fchsd2	G	A	7: 100,899,645 (GRCm39)		probably benign	Het
Fhip2a	T	C	19: 57,374,737 (GRCm39)	I704T	possibly damaging	Het
Fkbp4	T	C	6: 128,409,453 (GRCm39)	R402G	probably benign	Het
G2e3	T	A	12: 51,400,412 (GRCm39)	D21E	probably benign	Het
Gask1a	A	G	9: 121,794,493 (GRCm39)	T216A	possibly damaging	Het
Gck	A	T	11: 5,852,165 (GRCm39)	N391K	probably damaging	Het
Gm11077	T	A	6: 140,675,017 (GRCm39)	I3N	unknown	Het
Gm6793	T	C	8: 112,741,088 (GRCm39)	M185V	probably benign	Het
Gucy2d	T	A	7: 98,103,268 (GRCm39)	L504H	probably damaging	Het
Hat1	T	A	2: 71,251,627 (GRCm39)	Y225*	probably null	Het
Iars2	A	T	1: 185,050,765 (GRCm39)	D441E	probably benign	Het
Ido2	C	A	8: 25,043,776 (GRCm39)	M92I	possibly damaging	Het
Ifne	T	C	4: 88,797,908 (GRCm39)	E170G	probably damaging	Het
Ints8	C	A	4: 11,241,684 (GRCm39)	C253F	probably damaging	Het
Intu	G	T	3: 40,618,765 (GRCm39)	G257V	probably damaging	Het
Jakmip3	A	G	7: 138,609,316 (GRCm39)	K140R	probably benign	Het
Kcnip3	T	C	2: 127,301,263 (GRCm39)	E237G	probably damaging	Het
Ksr2	A	C	5: 117,643,594 (GRCm39)	E121A	probably benign	Het
Lars1	T	A	18: 42,347,902 (GRCm39)	I974F	probably benign	Het
Lce1b	A	G	3: 92,563,318 (GRCm39)	S72P	unknown	Het
Lhfpl4	T	A	6: 113,153,394 (GRCm39)	D125V	probably benign	Het
Luc7l	G	A	17: 26,499,030 (GRCm39)		probably benign	Het
Mei1	T	C	15: 82,009,154 (GRCm39)	L833P	probably damaging	Het
Mier2	A	G	10: 79,384,664 (GRCm39)	V150A	probably damaging	Het
Muc4	C	T	16: 32,576,715 (GRCm39)	R2072C	unknown	Het
Myh3	A	G	11: 66,975,852 (GRCm39)	K295E	probably benign	Het
Ndufaf5	A	G	2: 140,023,509 (GRCm39)	I115V	probably benign	Het
Neb	T	C	2: 52,216,756 (GRCm39)	K140E	probably damaging	Het
Niban1	A	G	1: 151,517,302 (GRCm39)	S104G	possibly damaging	Het
Npas2	A	G	1: 39,339,759 (GRCm39)	D103G	probably benign	Het
Ntrk3	A	T	7: 77,842,352 (GRCm39)	H825Q	possibly damaging	Het
Nup62	T	A	7: 44,478,472 (GRCm39)	S162R	possibly damaging	Het
Or4c108	T	C	2: 88,804,128 (GRCm39)	T36A	possibly damaging	Het
Or5g23	T	A	2: 85,438,409 (GRCm39)	I282F	probably damaging	Het
Or5t7	G	A	2: 86,507,629 (GRCm39)	T16I	possibly damaging	Het
Or8c8	A	G	9: 38,164,986 (GRCm39)	E91G	probably damaging	Het
Orc4	A	G	2: 48,800,305 (GRCm39)	M281T	probably benign	Het
Osbpl5	C	A	7: 143,269,510 (GRCm39)	R22L	probably damaging	Het
Otos	A	G	1: 92,572,185 (GRCm39)	F47S	probably damaging	Het
Parp11	A	G	6: 127,447,740 (GRCm39)	T25A	probably damaging	Het
Pcdhb9	A	C	18: 37,535,137 (GRCm39)	D377A	probably damaging	Het
Pdgfra	C	T	5: 75,331,534 (GRCm39)	S348L	probably benign	Het
Pdlim5	C	A	3: 142,012,060 (GRCm39)		probably null	Het
Peg12	T	C	7: 62,113,416 (GRCm39)	H227R	probably benign	Het
Piezo2	T	C	18: 63,152,415 (GRCm39)	E2559G	probably damaging	Het
Pnisr	C	T	4: 21,874,086 (GRCm39)		probably benign	Het
Ppa2	A	T	3: 133,053,858 (GRCm39)	I183F	probably damaging	Het
Pramel48	T	A	5: 95,630,758 (GRCm39)	Y212N	probably benign	Het
Prl2a1	T	C	13: 27,988,923 (GRCm39)	L16P	probably damaging	Het
Rai14	C	A	15: 10,633,314 (GRCm39)	Q25H	probably damaging	Het
Rapgef6	TG	TGG	11: 54,437,223 (GRCm39)		probably null	Het
Rbm34	C	A	8: 127,697,631 (GRCm39)	A27S	probably benign	Het
Rchy1	T	C	5: 92,099,762 (GRCm39)	D192G	probably damaging	Het
Rexo1	T	C	10: 80,378,754 (GRCm39)	D1094G	probably damaging	Het
Rtl1	T	A	12: 109,556,970 (GRCm39)	D1623V	probably damaging	Het
Ryr2	C	T	13: 11,746,586 (GRCm39)	E1989K	probably benign	Het
Sema6c	A	G	3: 95,078,124 (GRCm39)	E500G	probably damaging	Het
Slc13a1	T	A	6: 24,117,999 (GRCm39)	Y246F	probably damaging	Het
Slc39a9	C	T	12: 80,726,297 (GRCm39)	L249F	probably damaging	Het
Slc6a21	C	T	7: 44,937,252 (GRCm39)	P261S	probably benign	Het
Slco2b1	C	T	7: 99,335,243 (GRCm39)	C179Y	probably damaging	Het
Sox6	T	C	7: 115,258,773 (GRCm39)	N252S	possibly damaging	Het
Spr-ps1	C	T	6: 85,132,885 (GRCm39)		noncoding transcript	Het
Sptbn1	C	A	11: 30,064,781 (GRCm39)	R1906L	possibly damaging	Het
Stac2	T	C	11: 97,943,771 (GRCm39)	D13G	probably benign	Het
Stat5a	G	T	11: 100,764,955 (GRCm39)	R226L	probably damaging	Het
Suz12	A	G	11: 79,904,425 (GRCm39)		probably null	Het
Tas2r144	C	A	6: 42,192,936 (GRCm39)	H225Q	probably benign	Het
Tdo2	T	A	3: 81,867,853 (GRCm39)	M331L	probably benign	Het
Tesk1	T	C	4: 43,447,201 (GRCm39)	W530R	probably damaging	Het
Tlr6	T	C	5: 65,112,172 (GRCm39)	N245S	probably benign	Het
Tnfrsf11a	G	T	1: 105,772,431 (GRCm39)	A573S	probably damaging	Het
Tpbpb	A	T	13: 61,050,344 (GRCm39)		probably benign	Het
Trim24	T	A	6: 37,928,447 (GRCm39)	S590T	probably damaging	Het
Ttll3	G	T	6: 113,369,725 (GRCm39)	A90S	possibly damaging	Het
Ubr5	A	T	15: 38,042,090 (GRCm39)	S169T	probably benign	Het
Usp28	T	C	9: 48,928,007 (GRCm39)	V363A	probably damaging	Het
Vcan	A	G	13: 89,838,990 (GRCm39)	S2185P	probably benign	Het
Vmn1r211	T	C	13: 23,035,779 (GRCm39)	H296R	probably benign	Het
Vmn2r3	G	A	3: 64,166,537 (GRCm39)	P865S	probably damaging	Het
Wapl	A	G	14: 34,414,415 (GRCm39)	T426A	probably benign	Het
Wdr37	G	T	13: 8,886,887 (GRCm39)	T300K	probably damaging	Het
Wrap53	A	T	11: 69,452,990 (GRCm39)	V439E	probably null	Het
Wrn	A	G	8: 33,747,249 (GRCm39)	S868P	probably benign	Het
Zfhx4	A	G	3: 5,477,774 (GRCm39)	E3463G	probably damaging	Het
Zfp189	T	A	4: 49,529,283 (GRCm39)	C129S	possibly damaging	Het
Zfp442	T	C	2: 150,250,100 (GRCm39)	K544E	probably damaging	Het
Zfp939	T	A	7: 39,122,728 (GRCm39)		noncoding transcript	Het
Zfyve26	T	C	12: 79,308,573 (GRCm39)	H228R	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
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'- TTCCTTCTGTAGCCCCAAGG -3'
(R):5'- AACTCTGAAGCCCCTCTGTTG -3'

Sequencing Primer
(F):5'- AAGGCCTCCTCCCTCCC -3'
(R):5'- GAAGCCCCTCTGTTGATCAG -3'

Posted On

2014-06-30