Mutagenetix > Incidental Mutations

Incidental Mutation 'R3085:Abcc12'

265584

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

040574-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R3085 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86482260-86580686 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 86543907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123578 (fasta)

Gene Model

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

AlphaFold

Q80WJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000080115

SMART Domains

Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872

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

SMART Domains

Protein: ENSMUSP00000122577
Gene: ENSMUSG00000036872

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

SMART Domains

Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872

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

SMART Domains

Protein: ENSMUSP00000116866
Gene: ENSMUSG00000036872

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

SMART Domains

Protein: ENSMUSP00000114582
Gene: ENSMUSG00000036872

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: 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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (63/63)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1	T	C	2: 180,174,301		probably null	Het
Aldh18a1	T	C	19: 40,574,369	I76V	probably benign	Het
Atp1b2	T	C	11: 69,602,879	K125E	possibly damaging	Het
Cabyr	T	C	18: 12,750,966	V170A	probably damaging	Het
Cdh8	T	C	8: 99,196,386	T293A	probably benign	Het
Cenpc1	A	T	5: 86,037,617	V345D	probably benign	Het
Col4a3	A	G	1: 82,651,258	E131G	unknown	Het
Col4a4	C	T	1: 82,529,564		probably null	Het
Creb3l1	G	T	2: 91,995,444		probably null	Het
Dhx9	T	C	1: 153,465,699	D601G	probably benign	Het
Dyx1c1	T	A	9: 72,972,406	N289K	probably benign	Het
Eml6	T	C	11: 29,809,332	E807G	probably damaging	Het
Exog	C	A	9: 119,462,452	T241K	probably benign	Het
Eya1	T	C	1: 14,274,090	D109G	probably benign	Het
Fam69a	G	T	5: 107,914,424	D28E	probably damaging	Het
Fat2	C	T	11: 55,252,171	R4284H	possibly damaging	Het
Fbxw13	C	A	9: 109,184,231	G130*	probably null	Het
Fcrl5	A	G	3: 87,446,464	Y372C	probably damaging	Het
Gli3	T	C	13: 15,660,941	S435P	probably damaging	Het
Gsg1l	C	T	7: 125,891,680	R284H	probably benign	Het
Havcr1	C	T	11: 46,756,225	T162I	probably damaging	Het
Igdcc4	T	C	9: 65,132,058	F947S	probably damaging	Het
Irx1	G	T	13: 71,963,292	A66E	probably damaging	Het
Klf11	T	C	12: 24,655,491	S315P	probably benign	Het
Kynu	A	G	2: 43,602,300	M190V	probably benign	Het
Lrp2	T	C	2: 69,467,135	T3161A	probably benign	Het
Macrod1	G	T	19: 7,196,494	A208S	probably damaging	Het
Mamdc2	G	A	19: 23,310,932	H581Y	possibly damaging	Het
Megf8	T	A	7: 25,349,019	Y1706N	probably damaging	Het
Mthfd1l	G	A	10: 4,090,007	R806H	probably benign	Het
Nags	T	A	11: 102,145,984	V133D	probably damaging	Het
Nrg3	C	A	14: 38,370,949	D560Y	probably damaging	Het
Olfr1198	A	G	2: 88,746,144	F248S	probably damaging	Het
Olfr1280	A	G	2: 111,316,116	I212M	probably benign	Het
Olfr1313	C	A	2: 112,071,975	G203*	probably null	Het
Olfr313	T	C	11: 58,817,727	S240P	probably damaging	Het
Orc4	G	A	2: 48,937,489	P31S	probably benign	Het
Pde6d	T	C	1: 86,547,526		probably null	Het
Plekhf1	T	C	7: 38,221,577	E189G	probably benign	Het
Ppm1b	A	T	17: 85,013,860	I477L	probably benign	Het
Rad51ap2	C	A	12: 11,456,757	Q227K	possibly damaging	Het
Rnf125	T	C	18: 20,977,730	V15A	probably benign	Het
Rnps1	C	T	17: 24,412,419		probably benign	Het
Robo1	A	G	16: 73,002,010	I953V	possibly damaging	Het
Sash1	A	T	10: 8,742,422		probably null	Het
Smarcc2	T	C	10: 128,488,159		probably benign	Het
Stx12	T	A	4: 132,857,361	E224V	probably damaging	Het
Sun1	T	C	5: 139,235,601	V357A	probably benign	Het
Synpo2l	T	C	14: 20,662,180	D350G	probably damaging	Het
Tex15	A	T	8: 33,574,885	N1448Y	probably benign	Het
Tfpi	A	G	2: 84,442,883		probably benign	Het
Tktl2	T	A	8: 66,513,206	M472K	possibly damaging	Het
Tmem40	T	C	6: 115,741,615	D43G	possibly damaging	Het
Tshz2	T	A	2: 169,883,951	C156S	probably benign	Het
Vmn2r101	T	A	17: 19,588,815		probably null	Het
Vmn2r85	T	C	10: 130,425,212	M419V	probably benign	Het
Wdr73	G	A	7: 80,901,242		probably benign	Het
Zc3hc1	C	T	6: 30,374,764		probably null	Het
Zfhx3	T	C	8: 108,956,032	Y3368H	unknown	Het
Zfp263	G	A	16: 3,749,716	E632K	probably damaging	Het
Zfp266	A	G	9: 20,500,944	L111P	probably damaging	Het
Zfp626	T	A	7: 27,818,162	S189R	probably benign	Het
Zfp772	T	C	7: 7,203,700	R331G	possibly damaging	Het
Zkscan5	G	A	5: 145,221,079	C797Y	probably damaging	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
R0116:Abcc12	UTSW	8	86534998	missense	probably benign	0.00
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
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
R7939:Abcc12	UTSW	8	86548804	missense	probably damaging	1.00
R7989:Abcc12	UTSW	8	86505479	missense	probably benign	0.02
R8290:Abcc12	UTSW	8	86512282	missense	probably damaging	0.99
R8681:Abcc12	UTSW	8	86505279	missense	possibly damaging	0.74
R8795:Abcc12	UTSW	8	86531584	missense	possibly damaging	0.87
R8811:Abcc12	UTSW	8	86553394	missense	probably damaging	1.00
R8939:Abcc12	UTSW	8	86517318	missense	probably damaging	1.00
R8940:Abcc12	UTSW	8	86560811	missense	probably benign	0.45
X0027:Abcc12	UTSW	8	86553291	missense	probably damaging	0.99
Z1088:Abcc12	UTSW	8	86560279	splice site	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'- CCAAGGGACTCATTGGCAATC -3'
(R):5'- CCTTCCAAGCTGTGCACACTAG -3'

Sequencing Primer
(F):5'- CAAGGGACTCATTGGCAATCTTGAC -3'
(R):5'- CCAAGCTGTGCACACTAGGTTTG -3'

Posted On

2015-02-05