Mutagenetix > Incidental Mutation

Incidental Mutation 'R3847:Abcc12'

277437

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

040895-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R3847 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86482260-86580686 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86553391 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 338 (E338K)

Ref Sequence

ENSEMBL: ENSMUSP00000114582 (fasta)

Gene Model

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

AlphaFold

Q80WJ6

Predicted Effect

probably benign
Transcript: ENSMUST00000080115
AA Change: E338K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: E338K

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: E338K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122577
Gene: ENSMUSG00000036872
AA Change: E338K

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: E338K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: E338K

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: E338K

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000116866
Gene: ENSMUSG00000036872
AA Change: E338K

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: E338K

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000114582
Gene: ENSMUSG00000036872
AA Change: E338K

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
AA Change: E338K

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000123578
Gene: ENSMUSG00000036872
AA Change: E338K

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

0.0788

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.7%
20x: 96.1%

Validation Efficiency

100% (66/66)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,736,324		probably null	Het
Abcc5	A	T	16: 20,372,156	S815T	probably benign	Het
Ankrd16	G	A	2: 11,789,808	E335K	probably benign	Het
Atm	A	G	9: 53,503,075	F905S	possibly damaging	Het
Bckdha	C	T	7: 25,631,652	R281H	probably damaging	Het
Blvra	C	T	2: 127,095,191	T188I	probably damaging	Het
Bmp8b	C	A	4: 123,116,168		probably benign	Het
Cacna2d3	A	G	14: 29,347,120		probably null	Het
Cacng8	T	C	7: 3,394,474	S84P	probably damaging	Het
Cad	T	A	5: 31,061,650	V605E	probably damaging	Het
Ccny	A	G	18: 9,449,641	S11P	probably benign	Het
Col3a1	C	A	1: 45,321,990	P112T	unknown	Het
Corin	T	C	5: 72,422,165	E155G	probably benign	Het
Cul9	T	C	17: 46,525,135	Y1195C	probably damaging	Het
Cyp27a1	A	G	1: 74,737,559	E501G	probably damaging	Het
Dennd3	T	A	15: 73,542,732	N457K	possibly damaging	Het
Dnah7a	T	G	1: 53,501,656	I2520L	probably benign	Het
Dst	C	T	1: 34,212,319	S4165F	probably damaging	Het
Fgf14	A	C	14: 123,980,389	I234R	probably benign	Het
Foxp4	A	G	17: 47,875,528	I442T	unknown	Het
Gad2	T	G	2: 22,684,988	D472E	probably benign	Het
Garnl3	G	T	2: 32,992,228	H832N	probably benign	Het
Gm13941	T	C	2: 111,104,853	M11V	unknown	Het
Gnptab	T	A	10: 88,433,577	L714*	probably null	Het
Golgb1	C	A	16: 36,898,733	Q334K	probably benign	Het
Gp9	A	G	6: 87,779,151	I49M	probably benign	Het
Guf1	A	G	5: 69,561,157	N213S	probably damaging	Het
H2-K1	T	G	17: 33,997,329	H281P	probably damaging	Het
Hhip	T	A	8: 79,997,495	M373L	probably benign	Het
Ifi203	C	T	1: 173,933,796	C229Y	possibly damaging	Het
Ighv13-2	A	G	12: 114,357,798	L88S	probably damaging	Het
Kcna3	T	C	3: 107,036,696	Y92H	possibly damaging	Het
Lmo7	A	G	14: 101,922,095		probably null	Het
Lrguk	A	G	6: 34,073,768	D387G	probably damaging	Het
Mki67	A	C	7: 135,696,130	S2392A	probably benign	Het
Mknk2	C	T	10: 80,667,975	W367*	probably null	Het
Mocos	A	G	18: 24,676,662	K441E	probably damaging	Het
Mpnd	T	C	17: 56,011,692	S150P	probably damaging	Het
Naip2	A	T	13: 100,179,432	L280Q	probably damaging	Het
Naip2	G	C	13: 100,179,433	L280V	probably damaging	Het
Neurod4	C	T	10: 130,270,482	V308I	probably benign	Het
Nxf3	C	T	X: 136,073,983	V474I	probably benign	Het
Olfr1037	A	T	2: 86,085,407	Y123*	probably null	Het
Olfr976	A	T	9: 39,956,581	M118K	probably damaging	Het
Pam	T	A	1: 97,854,756		probably benign	Het
Pde5a	T	C	3: 122,803,160	Y467H	probably damaging	Het
Pibf1	T	A	14: 99,137,121	V332E	possibly damaging	Het
Plxna1	C	A	6: 89,356,519	R376L	probably damaging	Het
Proz	A	G	8: 13,073,533	E268G	probably benign	Het
Rimbp3	A	T	16: 17,210,299	H529L	probably benign	Het
Rnf103	C	G	6: 71,508,875	C163W	probably damaging	Het
Rnf17	T	C	14: 56,512,296	V1433A	probably damaging	Het
Sept11	G	T	5: 93,162,167	M276I	probably damaging	Het
Slc30a4	A	G	2: 122,702,272	V50A	probably damaging	Het
Sorbs1	A	G	19: 40,314,443	V570A	probably damaging	Het
Spout1	T	C	2: 30,177,407		probably null	Het
Syne2	T	C	12: 76,048,622	L5241P	probably damaging	Het
Tas2r110	T	A	6: 132,868,675	I223N	probably damaging	Het
Tead2	T	A	7: 45,232,328		probably null	Het
Thsd1	A	G	8: 22,259,411	H713R	probably damaging	Het
Ttc21b	A	G	2: 66,242,679	L221S	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Vmn2r105	A	G	17: 20,208,690	I708T	possibly damaging	Het
Vmn2r117	G	T	17: 23,460,415	H612N	probably damaging	Het
Wnk1	C	T	6: 119,969,354	G613S	possibly damaging	Het
Zbtb41	T	A	1: 139,423,996	H282Q	probably benign	Het
Zfp335	C	A	2: 164,900,106		probably null	Het
Zmym2	T	A	14: 56,921,499		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
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
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
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
R9711:Abcc12	UTSW	8	86548759	missense	probably damaging	1.00
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'- TGCCAAGGATAGGGTGCAAC -3'
(R):5'- CTCTTGAGCAAGTGTGAAAGTGTG -3'

Sequencing Primer
(F):5'- AACCGTGGCCTGGTTAGAG -3'
(R):5'- CTTCACCAAGTCTATTGAGGCAGG -3'

Posted On

2015-04-06