Mutagenetix > Incidental Mutations

Incidental Mutation 'R4299:Abcc12'

323491

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

041087-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

86482260-86580686 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 86531525 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122402 (fasta)

Gene Model

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

AlphaFold

Q80WJ6

Predicted Effect

probably null
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 null
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 null
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

silent
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

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	A	G	5: 31,487,526	R208G	possibly damaging	Het
Akna	A	T	4: 63,398,032	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,313,378	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,283,724	Y47*	probably null	Het
AW551984	T	C	9: 39,592,979	T564A	probably benign	Het
BC048403	C	A	10: 121,745,446	H117Q	probably benign	Het
C4b	T	C	17: 34,731,144	D1384G	possibly damaging	Het
C87499	T	C	4: 88,628,182	K137E	probably damaging	Het
Cbfa2t2	G	A	2: 154,523,928	V353I	probably damaging	Het
Cdh7	T	C	1: 110,061,001	I211T	probably damaging	Het
Cep170b	T	C	12: 112,739,305	S1166P	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	G	A	16: 22,805,411	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,183,928	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,573,677	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,819,925	T3645A	probably damaging	Het
Dolk	A	T	2: 30,285,188	W282R	probably damaging	Het
Dsg2	T	A	18: 20,595,951		probably null	Het
Dysf	A	G	6: 84,068,077	T297A	possibly damaging	Het
Flt1	G	T	5: 147,683,907	D142E	probably benign	Het
Frmd4a	C	A	2: 4,333,071	N29K	probably benign	Het
Fxyd7	A	T	7: 31,044,982	M36K	probably benign	Het
Gabbr1	C	T	17: 37,055,900	R178*	probably null	Het
Gm14139	G	A	2: 150,190,733	D17N	probably damaging	Het
Gnal	C	G	18: 67,088,583	P19R	unknown	Het
Gprc5b	G	A	7: 118,984,214	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 87,300,707	I194N	probably damaging	Het
Klhl24	T	C	16: 20,107,004	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,464,914	I133N	probably damaging	Het
Macf1	A	G	4: 123,399,406	I5381T	probably damaging	Het
Madd	A	G	2: 91,169,803	L197P	probably damaging	Het
Mapkapk3	G	A	9: 107,257,449	T296M	probably damaging	Het
Micall2	T	C	5: 139,709,471		probably benign	Het
Myh9	T	C	15: 77,769,964	T1214A	probably benign	Het
Ncapd3	A	G	9: 27,052,327	N492S	probably benign	Het
Neurl4	A	C	11: 69,909,061	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,250,599		probably null	Het
Olfr1052	A	T	2: 86,298,241	I142F	possibly damaging	Het
Olfr27	T	C	9: 39,144,999	S300P	probably benign	Het
Olfr380	A	T	11: 73,454,001	D70E	probably damaging	Het
Olfr421-ps1	T	A	1: 174,152,312	Y265*	probably null	Het
Olfr53	T	C	7: 140,652,243	V88A	probably benign	Het
Olfr67	T	A	7: 103,787,995	H94L	probably benign	Het
Olfr901	T	G	9: 38,430,812	Y177D	probably damaging	Het
Olfr933	T	A	9: 38,975,759	F28I	probably damaging	Het
Patj	C	A	4: 98,677,321	N1090K	possibly damaging	Het
Pde8a	A	G	7: 81,328,035	D692G	probably benign	Het
Ppa2	G	T	3: 133,367,842	K220N	probably damaging	Het
Rad54b	A	G	4: 11,597,865	H250R	probably damaging	Het
Reln	A	C	5: 21,920,487	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,383,753	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 58,893,523		noncoding transcript	Het
Scn11a	T	G	9: 119,765,506	I1274L	probably damaging	Het
Sco1	A	T	11: 67,055,800	H133L	possibly damaging	Het
Slc4a8	T	C	15: 100,796,640		probably null	Het
Smc2	C	T	4: 52,440,238		probably benign	Het
Spata18	T	C	5: 73,666,902	I156T	probably benign	Het
St3gal2	T	C	8: 110,962,359	M177T	probably benign	Het
Stt3a	A	G	9: 36,763,344	F48L	probably damaging	Het
Syvn1	C	T	19: 6,049,921		probably benign	Het
Szt2	A	G	4: 118,365,406		probably benign	Het
Telo2	A	T	17: 25,115,256	S6T	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,252,095	M369V	probably benign	Het
Tnfrsf13b	C	G	11: 61,140,817		probably null	Het
Vmn1r234	A	T	17: 21,229,021	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,091,964	M244I	probably benign	Het
Wdfy2	T	A	14: 62,925,140	L97*	probably null	Het
Wdr63	C	T	3: 146,068,806	D429N	probably damaging	Het
Xrcc5	T	C	1: 72,394,720	*733Q	probably null	Het
Zadh2	A	T	18: 84,094,501	I101F	possibly damaging	Het
Zfp516	G	A	18: 82,987,497	G842D	possibly damaging	Het
Zwilch	A	G	9: 64,155,162		probably null	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
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
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'- CAGAACCTGGCAGCTTTAATGG -3'
(R):5'- CAAGGACCTTAGCAGTGGAG -3'

Sequencing Primer
(F):5'- CCATTTAAAGGGCTGTATTATCAGAC -3'
(R):5'- CCTTAGCAGTGGAGGGGAGC -3'

Posted On

2015-06-20