Mutagenetix > Incidental Mutations

Incidental Mutation 'R7210:Abcc3'

561016

Institutional Source

Beutler Lab

Gene Symbol

Abcc3

Ensembl Gene

ENSMUSG00000020865

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 3

Synonyms

MRP3, 1700019L09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7210 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94343295-94392997 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94373941 bp

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 194 (P194S)

Ref Sequence

ENSEMBL: ENSMUSP00000136343 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000021231
AA Change: P194S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000021231
Gene: ENSMUSG00000020865
AA Change: P194S

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 benign
Transcript: ENSMUST00000178136
AA Change: P194S

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136343
Gene: ENSMUSG00000020865
AA Change: P194S

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: 98.9%

Validation Efficiency

100% (60/60)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr2	C	T	9: 121,908,877	A106V	possibly damaging	Het
Alg3	G	A	16: 20,605,894	P112L	unknown	Het
Areg	T	A	5: 91,140,905	Y23*	probably null	Het
Aspn	A	G	13: 49,566,491	T328A	probably benign	Het
B020011L13Rik	A	T	1: 117,801,511	E249D	possibly damaging	Het
Bptf	G	A	11: 107,054,464	Q2650*	probably null	Het
Btbd3	A	T	2: 138,283,744	R283W	probably damaging	Het
Cep131	T	C	11: 120,064,789	H1035R	probably damaging	Het
Cfap57	A	T	4: 118,576,703	Y959*	probably null	Het
Cnot1	T	C	8: 95,788,658	Y25C	probably damaging	Het
Crebbp	G	A	16: 4,084,257	H2373Y	possibly damaging	Het
Ctnna3	T	C	10: 64,250,768	L373P	probably damaging	Het
Cyp8b1	T	A	9: 121,915,180	D362V	probably damaging	Het
D430042O09Rik	T	C	7: 125,872,239	V1504A	probably damaging	Het
D630003M21Rik	T	A	2: 158,216,012		probably null	Het
Dpp6	T	C	5: 27,598,803	I249T	probably damaging	Het
Fam149b	T	G	14: 20,378,472	I475M	probably damaging	Het
Fat1	A	G	8: 45,023,503	Y1862C	probably damaging	Het
Fcrl5	A	T	3: 87,446,412	N355Y	possibly damaging	Het
Fgd6	C	T	10: 94,134,092	T1201I	probably damaging	Het
Fndc8	A	T	11: 82,897,866	D174V	probably damaging	Het
Gatb	A	G	3: 85,574,220	H26R	probably benign	Het
Gm37240	T	A	3: 84,497,807	T230S	probably benign	Het
Gria4	T	C	9: 4,464,135	Q609R	probably damaging	Het
Gse1	C	A	8: 120,230,702	T644K	unknown	Het
Ifit1bl1	T	G	19: 34,594,164	I298L	probably benign	Het
Il31ra	T	C	13: 112,549,500	D85G	possibly damaging	Het
Lyst	T	C	13: 13,656,983	L1664P	probably damaging	Het
Mrpl35	A	G	6: 71,817,738	L82S	possibly damaging	Het
Myo7b	G	A	18: 32,007,102	R212C	probably damaging	Het
Myom2	T	C	8: 15,104,114	V684A	probably damaging	Het
Nbeal1	G	C	1: 60,237,151	V684L	probably benign	Het
Nop58	G	T	1: 59,710,380		probably null	Het
Nudt13	T	A	14: 20,309,784	I193N	possibly damaging	Het
Nyap1	C	A	5: 137,737,982	R81L	probably damaging	Het
Olfr388-ps1	T	C	11: 73,724,873	I50M	possibly damaging	Het
Oxct2b	A	C	4: 123,116,276		probably benign	Het
Pcf11	C	T	7: 92,663,476	A230T	probably benign	Het
Phactr4	A	T	4: 132,358,271	*695R	probably null	Het
Pkd1	T	C	17: 24,575,866	S2176P	probably damaging	Het
Plch2	C	A	4: 155,009,086	R133L	probably damaging	Het
Ptprq	G	T	10: 107,685,171	N713K	probably damaging	Het
Ptrh2	A	T	11: 86,689,967	T137S	probably benign	Het
R3hdm1	A	G	1: 128,211,208	Y718C	possibly damaging	Het
Rftn1	T	A	17: 49,994,307	R505*	probably null	Het
Rps15a	A	G	7: 118,109,111	F128L	probably benign	Het
Slc25a25	A	T	2: 32,420,396	M177K	possibly damaging	Het
Smgc	C	A	15: 91,860,294	P631Q	probably damaging	Het
Sox2	T	C	3: 34,651,157	S248P	probably damaging	Het
Sycp1	T	C	3: 102,853,492	K702E	probably damaging	Het
Tes	G	T	6: 17,104,762	C414F	probably damaging	Het
Tet1	A	T	10: 62,814,501	C14S	probably null	Het
Tle3	C	T	9: 61,412,305	P452S	probably damaging	Het
Tmc6	A	C	11: 117,775,844	L131R	possibly damaging	Het
Tnip3	C	T	6: 65,593,511	R30*	probably null	Het
Tnrc6b	G	T	15: 80,929,285	G1748W	probably damaging	Het
Ugt2b38	T	G	5: 87,410,425	D459A	probably damaging	Het
Zdhhc2	A	T	8: 40,467,439	R246S	probably damaging	Het
Zscan22	T	A	7: 12,906,821	C331S	probably damaging	Het

Other mutations in Abcc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Abcc3	APN	11	94343785	splice site	probably benign
IGL01154:Abcc3	APN	11	94359232	splice site	probably benign
IGL01353:Abcc3	APN	11	94352108	missense	possibly damaging	0.88
IGL02553:Abcc3	APN	11	94351924	missense	probably damaging	1.00
IGL02795:Abcc3	APN	11	94361642	splice site	probably benign
IGL02928:Abcc3	APN	11	94361306	missense	possibly damaging	0.49
IGL02964:Abcc3	APN	11	94351810	missense	possibly damaging	0.93
IGL03006:Abcc3	APN	11	94368595	missense	probably benign	0.18
IGL03345:Abcc3	APN	11	94359337	missense	probably damaging	1.00
R0200:Abcc3	UTSW	11	94355074	missense	probably damaging	0.96
R0377:Abcc3	UTSW	11	94375096	missense	possibly damaging	0.90
R0812:Abcc3	UTSW	11	94375202	splice site	probably benign
R1269:Abcc3	UTSW	11	94357384	missense	probably damaging	1.00
R1270:Abcc3	UTSW	11	94357384	missense	probably damaging	1.00
R1375:Abcc3	UTSW	11	94352216	missense	possibly damaging	0.46
R1506:Abcc3	UTSW	11	94357318	missense	possibly damaging	0.89
R1525:Abcc3	UTSW	11	94361236	missense	probably benign	0.00
R1842:Abcc3	UTSW	11	94359612	missense	probably benign	0.00
R1868:Abcc3	UTSW	11	94364063	missense	probably benign	0.06
R2069:Abcc3	UTSW	11	94364417	missense	probably damaging	1.00
R2132:Abcc3	UTSW	11	94367600	missense	probably benign	0.18
R2257:Abcc3	UTSW	11	94363594	missense	probably damaging	1.00
R2395:Abcc3	UTSW	11	94357306	missense	possibly damaging	0.90
R2930:Abcc3	UTSW	11	94361810	missense	probably damaging	0.99
R3081:Abcc3	UTSW	11	94356976	missense	probably damaging	1.00
R3824:Abcc3	UTSW	11	94368620	critical splice acceptor site	probably null
R4385:Abcc3	UTSW	11	94368239	missense	probably damaging	0.99
R4425:Abcc3	UTSW	11	94346044	missense	probably damaging	0.98
R4464:Abcc3	UTSW	11	94358786	missense	probably benign	0.01
R4696:Abcc3	UTSW	11	94350991	missense	probably benign	0.01
R4877:Abcc3	UTSW	11	94367595	missense	probably damaging	0.98
R5172:Abcc3	UTSW	11	94375608	missense	probably damaging	1.00
R5586:Abcc3	UTSW	11	94364421	missense	probably damaging	1.00
R5682:Abcc3	UTSW	11	94392897	missense	probably benign	0.31
R5719:Abcc3	UTSW	11	94351068	missense	probably damaging	1.00
R5816:Abcc3	UTSW	11	94343737	missense	probably damaging	0.99
R5919:Abcc3	UTSW	11	94357306	missense	possibly damaging	0.90
R6222:Abcc3	UTSW	11	94368605	missense	probably benign	0.21
R6264:Abcc3	UTSW	11	94373998	missense	probably damaging	0.99
R6526:Abcc3	UTSW	11	94359372	missense	probably benign	0.21
R6782:Abcc3	UTSW	11	94358950	missense	probably damaging	1.00
R6889:Abcc3	UTSW	11	94375555	missense	possibly damaging	0.49
R6953:Abcc3	UTSW	11	94374835	missense	probably benign	0.03
R7054:Abcc3	UTSW	11	94365225	missense	probably benign	0.01
R7131:Abcc3	UTSW	11	94365031	missense	probably damaging	1.00
R7283:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7284:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7285:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7287:Abcc3	UTSW	11	94357047	missense	probably benign	0.44
R7320:Abcc3	UTSW	11	94367645	missense	probably benign	0.33
R7450:Abcc3	UTSW	11	94361695	missense	probably damaging	1.00
R7469:Abcc3	UTSW	11	94368188	missense	probably damaging	1.00
X0064:Abcc3	UTSW	11	94363498	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTACTCAGCCCACTCTCAAG -3'
(R):5'- AAGTCCTCCTCGTGTCACTG -3'

Sequencing Primer
(F):5'- CACTCTCAAGCTGTGGAGGTG -3'
(R):5'- TACCGCTGGGCATCCTCTG -3'

Posted On

2019-06-26