Mutagenetix > Incidental Mutations

Incidental Mutation 'R1564:Abcc12'

175119

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

039603-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1564 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86482260-86580686 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 86517486 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1013 (T1013S)

Ref Sequence

ENSEMBL: ENSMUSP00000122402 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000080115
AA Change: T1013S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000079014
Gene: ENSMUSG00000036872
AA Change: T1013S

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
AA Change: T1013S

PolyPhen 2 Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000122402
Gene: ENSMUSG00000036872
AA Change: T1013S

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

unknown
Transcript: ENSMUST00000156066
AA Change: T298S

SMART Domains

Protein: ENSMUSP00000120282
Gene: ENSMUSG00000036872
AA Change: T298S

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 91.0%

Validation Efficiency

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530099J19Rik	T	C	13: 19,729,300		noncoding transcript	Het
Abca13	C	T	11: 9,434,316	Q3923*	probably null	Het
Acad9	T	C	3: 36,089,429	I558T	possibly damaging	Het
Agbl4	C	A	4: 110,955,564		probably null	Het
Akr1b3	C	T	6: 34,306,535		probably null	Het
Aktip	A	G	8: 91,131,081	M1T	probably null	Het
Apc	G	T	18: 34,315,149	Q1665H	probably benign	Het
Arfgef3	T	C	10: 18,591,704	D1916G	probably damaging	Het
Arhgef11	T	C	3: 87,702,510	V365A	probably benign	Het
Bank1	C	A	3: 136,213,841	E265*	probably null	Het
Bbs7	A	T	3: 36,575,795	D578E	probably damaging	Het
Bin3	T	C	14: 70,134,769	F172L	probably damaging	Het
Bves	A	G	10: 45,369,281	D350G	probably benign	Het
Cacna1h	A	T	17: 25,377,861	C80*	probably null	Het
Cacna2d4	T	C	6: 119,241,195	F164L	possibly damaging	Het
Cenpj	T	C	14: 56,552,066	D842G	probably benign	Het
Col12a1	C	A	9: 79,613,840	R2781L	probably damaging	Het
Cyp2c68	A	T	19: 39,735,580	C213*	probably null	Het
Defb33	T	A	8: 20,897,581	C45S	possibly damaging	Het
Dolk	A	T	2: 30,285,621	N137K	probably damaging	Het
Fam171b	G	A	2: 83,880,284	E767K	probably damaging	Het
Fbxl20	A	T	11: 98,098,486	D189E	probably damaging	Het
Gm10643	A	T	8: 84,064,482	M1K	probably null	Het
Gm572	T	G	4: 148,651,186	I24S	possibly damaging	Het
Gnpda1	A	G	18: 38,338,089		probably null	Het
Helz2	G	T	2: 181,233,228	N1824K	probably benign	Het
Insl3	G	T	8: 71,690,291	A99S	possibly damaging	Het
Lpin2	G	A	17: 71,225,060	V137I	probably benign	Het
Lrrc9	A	G	12: 72,487,053	E1032G	probably damaging	Het
Macf1	T	C	4: 123,459,357	T1510A	probably benign	Het
Mnd1	T	C	3: 84,116,431	E116G	probably benign	Het
Mycbp2	A	G	14: 103,169,851		probably null	Het
Myoz3	G	A	18: 60,580,842	S23L	probably benign	Het
Napsa	G	T	7: 44,586,649	V371F	probably damaging	Het
Nefh	T	C	11: 4,939,878	T914A	unknown	Het
Neurod2	A	T	11: 98,327,424	C305S	probably damaging	Het
Nmnat3	T	C	9: 98,354,166		probably null	Het
Nuf2	A	G	1: 169,498,793	V463A	unknown	Het
Olfml1	A	T	7: 107,571,139	T78S	possibly damaging	Het
Olfr1199	A	T	2: 88,756,656	N6K	possibly damaging	Het
Olfr1228	G	T	2: 89,249,672	N7K	probably benign	Het
Olfr61	G	A	7: 140,638,054	V118I	probably benign	Het
Olfr800	T	C	10: 129,660,015	F70L	probably benign	Het
Opcml	G	A	9: 28,903,316	C288Y	probably damaging	Het
Oprl1	T	C	2: 181,718,940	I222T	possibly damaging	Het
Pcsk5	A	G	19: 17,654,756	Y349H	probably damaging	Het
Pla2g4d	C	A	2: 120,268,903	R706L	possibly damaging	Het
Pmm1	A	G	15: 81,956,200	Y55H	probably damaging	Het
Polb	A	G	8: 22,630,341		probably null	Het
Pom121l2	T	C	13: 21,983,353	I598T	possibly damaging	Het
Pxmp2	C	T	5: 110,281,196		probably null	Het
Rbm39	G	T	2: 156,154,257	L403I	probably benign	Het
Rec8	T	C	14: 55,622,275		probably null	Het
Reck	T	C	4: 43,912,061	I190T	probably benign	Het
Rer1	A	T	4: 155,075,593	I166N	probably damaging	Het
Rgs17	T	A	10: 5,842,567	K60*	probably null	Het
Ripor2	C	T	13: 24,675,785	T152M	probably damaging	Het
Scgb1b2	A	T	7: 31,291,775		probably benign	Het
Scn3a	C	A	2: 65,514,635	R503M	probably damaging	Het
Scn4a	C	A	11: 106,345,541	D298Y	probably benign	Het
Scn9a	A	G	2: 66,484,304	F1679S	probably damaging	Het
Scyl3	G	T	1: 163,939,984		probably null	Het
Sec23ip	A	G	7: 128,766,281		probably null	Het
She	C	T	3: 89,849,614	A325V	possibly damaging	Het
Skint2	T	G	4: 112,625,998	M200R	probably damaging	Het
Slc17a5	A	T	9: 78,578,699	C35S	probably damaging	Het
Slc25a24	T	A	3: 109,163,503	S393T	probably damaging	Het
Slc6a19	C	T	13: 73,686,124	V320M	probably damaging	Het
Snap91	T	C	9: 86,792,196	D579G	possibly damaging	Het
Spats2l	C	T	1: 57,946,224	R479C	probably damaging	Het
Syngr3	G	C	17: 24,686,668		probably null	Het
Tas2r107	A	C	6: 131,659,822	I88R	probably damaging	Het
Them7	A	T	2: 105,297,914	N80I	probably damaging	Het
Tmprss7	C	T	16: 45,662,153		probably null	Het
Tnrc6b	A	G	15: 80,880,168	N624D	possibly damaging	Het
Trpm2	T	G	10: 77,942,999	I378L	probably benign	Het
Ttn	C	A	2: 76,724,532	W30676L	probably damaging	Het
Ttn	A	G	2: 76,944,040	V2220A	unknown	Het
Uba6	T	C	5: 86,154,407	T134A	probably benign	Het
Vmn2r55	A	G	7: 12,684,751	S81P	probably damaging	Het
Zfp616	T	A	11: 74,084,722	S606T	probably damaging	Het
Zfp653	C	A	9: 22,055,859	A577S	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
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
X0027:Abcc12	UTSW	8	86553291	missense	probably damaging	0.99
Z1088:Abcc12	UTSW	8	86560279	synonymous	probably null

Predicted Primers

PCR Primer
(F):5'- TAACACGGCATAGGCCAAGCTC -3'
(R):5'- ACTTAGCACCCTTGTCAACTGACAC -3'

Sequencing Primer
(F):5'- CCGTTACCTGGATGATGTAAGAC -3'
(R):5'- ATCAAAGATGCCTGTGGCAG -3'

Posted On

2014-04-24