Mutagenetix > Incidental Mutations

Incidental Mutation 'R0116:Abcc12'

20806

Institutional Source

Beutler Lab

Gene Symbol

Abcc12

Ensembl Gene

ENSMUSG00000036872

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 12

Synonyms

4930467B22Rik, MRP9

MMRRC Submission

038402-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R0116 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

86482260-86580686 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 86534998 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Phenylalanine at position 668 (S668F)

Ref Sequence

ENSEMBL: ENSMUSP00000114582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080115] [ENSMUST00000129898] [ENSMUST00000131423] [ENSMUST00000131806] [ENSMUST00000152438] [ENSMUST00000156610]

Predicted Effect

probably benign
Transcript: ENSMUST00000080115
AA Change: S668F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: S668F

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	3.6e-19	PFAM
AAA	506	679	3.33e-13	SMART
low complexity region	739	752	N/A	INTRINSIC
Pfam:ABC_membrane	791	1079	1.3e-26	PFAM
AAA	1153	1346	1.07e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129898
AA Change: S668F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000122577
Gene: ENSMUSG00000036872
AA Change: S668F

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	1.2e-19	PFAM
AAA	506	679	3.33e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131423
AA Change: S668F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: S668F

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	1.1e-21	PFAM
AAA	506	679	3.33e-13	SMART
low complexity region	739	752	N/A	INTRINSIC
Pfam:ABC_membrane	792	1077	1.6e-34	PFAM
AAA	1153	1346	1.07e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000131806
AA Change: S668F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116866
Gene: ENSMUSG00000036872
AA Change: S668F

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	1.3e-19	PFAM
AAA	506	679	3.33e-13	SMART
low complexity region	739	752	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152438
AA Change: S668F

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000114582
Gene: ENSMUSG00000036872
AA Change: S668F

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	1.2e-19	PFAM
AAA	506	679	3.33e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000156066

SMART Domains

Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
Pfam:ABC_membrane	78	363	3.8e-35	PFAM
Pfam:ABC_tran	430	508	5.7e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000156610

SMART Domains

Protein: ENSMUSP00000123578
Gene: ENSMUSG00000036872

Domain	Start	End	E-Value	Type
Pfam:ABC_membrane	123	392	5.9e-20	PFAM
AAA	506	661	1.07e-7	SMART

Meta Mutation Damage Score

0.0628

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two ATP-binding domains and 12 transmembrane regions. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies: ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White. This gene is a member of the MRP subfamily which is involved in multi-drug resistance. This gene and another subfamily member are arranged head-to-tail on chromosome 16q12.1. Increased expression of this gene is associated with breast cancer. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,290,770	V152E	probably damaging	Het
Abca5	T	G	11: 110,276,505	E1495A	probably damaging	Het
Adgrl4	A	T	3: 151,517,610	T608S	probably benign	Het
Angel2	G	A	1: 190,940,990	D255N	probably benign	Het
Apob	T	A	12: 7,989,113		probably benign	Het
Arfgef2	A	T	2: 166,873,683	R1349S	probably damaging	Het
Atp2b2	C	T	6: 113,793,695	V418I	probably damaging	Het
Birc6	C	A	17: 74,623,746		probably benign	Het
Capn13	T	A	17: 73,351,524	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,260,638	S352P	probably damaging	Het
Col6a3	A	G	1: 90,813,551	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,658	R155W	probably damaging	Het
Dapk1	A	G	13: 60,761,100	I1176V	probably benign	Het
Dnah17	T	C	11: 118,058,306	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,213,360	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,407,354	Y261H	probably benign	Het
Dock2	T	C	11: 34,688,565		probably benign	Het
Dusp27	A	C	1: 166,099,701	S781A	probably benign	Het
Dyrk3	A	T	1: 131,129,839	V199E	probably damaging	Het
F2r	G	T	13: 95,604,486	C180*	probably null	Het
F5	A	G	1: 164,184,914	S466G	probably benign	Het
Fbn2	A	T	18: 58,102,373	C677*	probably null	Het
Fbxo41	A	G	6: 85,477,908	S673P	probably damaging	Het
Fhad1	G	T	4: 141,940,095	H639N	probably benign	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Foxa2	A	G	2: 148,043,561	S270P	probably damaging	Het
Fxyd7	C	T	7: 31,047,368		probably null	Het
Gm5225	A	G	17: 24,024,058	D67G	probably benign	Het
Grik3	G	A	4: 125,670,556	E444K	probably benign	Het
Gsdma2	A	G	11: 98,649,183	K44E	probably damaging	Het
Haus1	T	A	18: 77,762,070	K130*	probably null	Het
Heg1	A	G	16: 33,735,658		probably benign	Het
Hormad2	A	G	11: 4,412,206		probably benign	Het
Hsd17b3	G	A	13: 64,058,589	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,109	F374S	probably damaging	Het
Itch	A	G	2: 155,217,983		probably benign	Het
Jade2	A	T	11: 51,831,309	L139Q	probably damaging	Het
Kif5c	G	A	2: 49,752,239		probably benign	Het
Lama1	T	C	17: 67,776,923	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,170,688	R658G	probably damaging	Het
Mcph1	C	T	8: 18,788,248	L729F	probably benign	Het
Me1	A	T	9: 86,654,667	N118K	probably benign	Het
Med13	A	G	11: 86,319,897	L473S	probably damaging	Het
Mgam	T	A	6: 40,658,987	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,137,041	S586P	probably damaging	Het
Mthfr	A	G	4: 148,051,523	D310G	probably benign	Het
Mtmr7	A	T	8: 40,581,405		probably benign	Het
Mtus1	A	G	8: 40,998,477		probably benign	Het
Mus81	G	T	19: 5,486,524	A138D	probably damaging	Het
Myom2	A	T	8: 15,117,633	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,525,242	K739*	probably null	Het
Nlrp4d	T	A	7: 10,374,891	K762N	probably benign	Het
Nrap	T	C	19: 56,355,546	Y724C	probably damaging	Het
Ogn	A	T	13: 49,621,038	Y219F	possibly damaging	Het
Olfr805	T	A	10: 129,722,977	D189V	probably damaging	Het
Olfr923	T	C	9: 38,828,564	L291P	probably damaging	Het
Olfr948	A	T	9: 39,318,864	I250N	probably damaging	Het
Padi2	T	C	4: 140,926,239	V180A	probably benign	Het
Papss2	C	T	19: 32,638,368	R167*	probably null	Het
Pcbp2	T	C	15: 102,474,235		probably benign	Het
Per1	T	A	11: 69,101,880		probably benign	Het
Pik3ca	T	C	3: 32,459,945	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,817,545	Q1397*	probably null	Het
Plce1	T	C	19: 38,721,821	V1133A	probably benign	Het
Pnmal1	T	G	7: 16,960,700	V160G	probably damaging	Het
Prss12	T	C	3: 123,482,774	C351R	probably damaging	Het
Qprt	A	T	7: 127,109,097	L54Q	probably damaging	Het
Raf1	C	T	6: 115,626,383	S165N	probably damaging	Het
Rere	A	G	4: 150,616,976	N1271S	probably benign	Het
Rnasel	T	A	1: 153,754,512	L258H	probably damaging	Het
Ryr2	T	C	13: 11,709,921	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,803,165	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,259,859	Y11*	probably null	Het
Slc25a29	A	C	12: 108,827,091	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,168,264	V454M	probably benign	Het
Slco1b2	A	T	6: 141,669,388	T340S	probably benign	Het
Smarcc1	A	G	9: 110,147,104	N153S	possibly damaging	Het
Snx1	C	A	9: 66,088,539	E516*	probably null	Het
Sptlc2	T	C	12: 87,356,680	D115G	probably benign	Het
Stard9	A	G	2: 120,634,255	N67S	probably damaging	Het
Swap70	G	A	7: 110,273,282	R368H	probably benign	Het
Tcaf3	T	C	6: 42,591,350	K691E	probably benign	Het
Tmco4	T	C	4: 139,053,920	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213	S290P	probably benign	Het
Top2a	T	C	11: 99,003,590	T972A	probably benign	Het
Tpr	T	A	1: 150,410,147	S527R	probably damaging	Het
Traf2	T	C	2: 25,519,609	D443G	probably damaging	Het
Trim40	A	T	17: 36,883,147		probably null	Het
Trim42	A	T	9: 97,363,403	I448N	possibly damaging	Het
Ttll9	G	A	2: 152,983,134	V78M	probably damaging	Het
Vav1	C	T	17: 57,296,039	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,155	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,876,665		probably null	Het
Zfp799	A	G	17: 32,821,035	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,858,769		probably benign	Het

Other mutations in Abcc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01362:Abcc12	APN	8	86534693	missense	probably benign	0.45
IGL01504:Abcc12	APN	8	86557602	missense	probably damaging	1.00
IGL01593:Abcc12	APN	8	86557650	missense	probably damaging	1.00
IGL02164:Abcc12	APN	8	86527404	missense	probably damaging	1.00
IGL02173:Abcc12	APN	8	86566442	missense	probably damaging	1.00
IGL02175:Abcc12	APN	8	86535013	splice site	probably null
IGL02405:Abcc12	APN	8	86558153	missense	probably damaging	0.98
IGL02620:Abcc12	APN	8	86505314	splice site	probably null
IGL02635:Abcc12	APN	8	86509682	splice site	probably benign
IGL03241:Abcc12	APN	8	86509807	missense	possibly damaging	0.77
PIT4544001:Abcc12	UTSW	8	86505246	missense	possibly damaging	0.58
R0023:Abcc12	UTSW	8	86538333	missense	probably damaging	1.00
R0023:Abcc12	UTSW	8	86538333	missense	probably damaging	1.00
R0131:Abcc12	UTSW	8	86531568	missense	probably benign
R0131:Abcc12	UTSW	8	86531568	missense	probably benign
R0132:Abcc12	UTSW	8	86531568	missense	probably benign
R0308:Abcc12	UTSW	8	86557752	splice site	probably benign
R0589:Abcc12	UTSW	8	86560472	missense	possibly damaging	0.86
R1451:Abcc12	UTSW	8	86557693	missense	probably damaging	1.00
R1564:Abcc12	UTSW	8	86517486	missense	probably benign	0.10
R1740:Abcc12	UTSW	8	86505497	nonsense	probably null
R1740:Abcc12	UTSW	8	86509771	missense	possibly damaging	0.78
R1970:Abcc12	UTSW	8	86527281	missense	probably benign	0.27
R2017:Abcc12	UTSW	8	86563988	missense	probably damaging	1.00
R2026:Abcc12	UTSW	8	86558233	missense	probably benign	0.30
R2402:Abcc12	UTSW	8	86509141	missense	probably damaging	1.00
R3085:Abcc12	UTSW	8	86543907	splice site	probably benign
R3115:Abcc12	UTSW	8	86540024	critical splice donor site	probably null
R3176:Abcc12	UTSW	8	86506866	missense	probably damaging	1.00
R3276:Abcc12	UTSW	8	86506866	missense	probably damaging	1.00
R3847:Abcc12	UTSW	8	86553391	missense	probably benign	0.05
R3911:Abcc12	UTSW	8	86528419	splice site	probably benign
R4031:Abcc12	UTSW	8	86517448	missense	probably damaging	1.00
R4297:Abcc12	UTSW	8	86531525	splice site	probably null
R4298:Abcc12	UTSW	8	86531525	splice site	probably null
R4299:Abcc12	UTSW	8	86531525	splice site	probably null
R4688:Abcc12	UTSW	8	86548694	missense	possibly damaging	0.46
R4810:Abcc12	UTSW	8	86560842	missense	probably damaging	1.00
R4863:Abcc12	UTSW	8	86538376	missense	probably damaging	1.00
R4892:Abcc12	UTSW	8	86509802	missense	probably benign	0.28
R5288:Abcc12	UTSW	8	86566539	missense	probably damaging	1.00
R5303:Abcc12	UTSW	8	86509786	missense	probably benign	0.15
R5332:Abcc12	UTSW	8	86524830	splice site	probably null
R5386:Abcc12	UTSW	8	86517489	missense	possibly damaging	0.82
R5457:Abcc12	UTSW	8	86509844	missense	probably benign	0.03
R5900:Abcc12	UTSW	8	86566520	missense	possibly damaging	0.90
R6035:Abcc12	UTSW	8	86517404	missense	probably damaging	0.98
R6035:Abcc12	UTSW	8	86517404	missense	probably damaging	0.98
R6291:Abcc12	UTSW	8	86566544	missense	possibly damaging	0.72
R6518:Abcc12	UTSW	8	86509089
R6677:Abcc12	UTSW	8	86534752	missense	possibly damaging	0.58
R7258:Abcc12	UTSW	8	86560857	missense	possibly damaging	0.94
R7411:Abcc12	UTSW	8	86560850	missense	possibly damaging	0.95
R7619:Abcc12	UTSW	8	86566553	missense	probably damaging	1.00
R7808:Abcc12	UTSW	8	86507939	missense	probably benign	0.03
R7828:Abcc12	UTSW	8	86528275	missense	probably benign	0.08
R7834:Abcc12	UTSW	8	86531550	missense	possibly damaging	0.81
R7834:Abcc12	UTSW	8	86558230	missense	probably damaging	1.00
R7917:Abcc12	UTSW	8	86531550	missense	possibly damaging	0.81
R7917:Abcc12	UTSW	8	86558230	missense	probably damaging	1.00
X0027:Abcc12	UTSW	8	86553291	missense	probably damaging	0.99
Z1088:Abcc12	UTSW	8	86560279	synonymous	probably null
Z1176:Abcc12	UTSW	8	86550601	missense	probably damaging	1.00
Z1177:Abcc12	UTSW	8	86527384	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ATGAGGCGGGACTCTTAATCCCAC -3'
(R):5'- TTCCAAACCTTGGCCTCCACAATAG -3'

Sequencing Primer
(F):5'- ACTCACCAGGCAGGTGTG -3'
(R):5'- cagacaattttgctcatcacaac -3'

Posted On

2013-04-11