Mutagenetix > Incidental Mutations

Incidental Mutation 'R1543:Abcc6'

171921

Institutional Source

Beutler Lab

Gene Symbol

Abcc6

Ensembl Gene

ENSMUSG00000030834

Gene Name

ATP-binding cassette, sub-family C (CFTR/MRP), member 6

Synonyms

Mrp6, DCC, Dyscalc1

MMRRC Submission

039582-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.748) question?

Stock #

R1543 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46016504 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 231 (R231G)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002850]

Predicted Effect

probably benign
Transcript: ENSMUST00000002850
AA Change: R231G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: R231G

Domain	Start	End	E-Value	Type
transmembrane domain	44	61	N/A	INTRINSIC
transmembrane domain	81	100	N/A	INTRINSIC
transmembrane domain	110	129	N/A	INTRINSIC
transmembrane domain	142	161	N/A	INTRINSIC
transmembrane domain	171	193	N/A	INTRINSIC
Pfam:ABC_membrane	309	580	3.5e-29	PFAM
AAA	653	828	1.19e-9	SMART
low complexity region	871	885	N/A	INTRINSIC
Pfam:ABC_membrane	942	1211	2.5e-32	PFAM
AAA	1286	1473	1.71e-10	SMART

Meta Mutation Damage Score

0.1632

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.2%

Validation Efficiency

95% (77/81)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MRP subfamily which is involved in multi-drug resistance. The specific function of this protein is unknown; however, a similar rat protein has been identified as the major canalicular bile salt export pump of liver. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice display patchy mineralization which may include the capsule surrounding the sinuses of vibrissae, medium sized arteries, skin, retina, kidney, and interscapular brown fat. Strain differences at this locus may lead to altered susceptibility to cardiac calcinosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810009J06Rik	G	A	6: 40,968,204	V206I	probably damaging	Het
2610507B11Rik	A	G	11: 78,275,174	T1422A	probably benign	Het
4933425L06Rik	A	T	13: 105,112,369	R364*	probably null	Het
Abca8b	A	C	11: 109,974,674	M319R	probably damaging	Het
Acadm	A	G	3: 153,929,572	Y302H	probably damaging	Het
Acox3	C	A	5: 35,603,008	R423S	probably damaging	Het
Adam7	T	A	14: 68,521,922		probably benign	Het
Adgrb3	A	C	1: 25,488,088	M589R	probably benign	Het
Adgrl2	A	C	3: 148,859,273	F224V	probably damaging	Het
Adm2	G	C	15: 89,324,079	G74A	probably damaging	Het
Aen	T	A	7: 78,902,622	V15E	probably damaging	Het
Ankzf1	T	A	1: 75,192,516	V22D	possibly damaging	Het
Arap2	T	A	5: 62,606,155	K1549*	probably null	Het
Arhgef11	G	A	3: 87,713,017	R430H	probably benign	Het
Asb17	T	G	3: 153,844,511	L60W	probably damaging	Het
BC035044	T	C	6: 128,890,985		probably benign	Het
Cacna2d1	A	T	5: 16,266,718	M254L	possibly damaging	Het
Celf6	T	C	9: 59,603,877		probably benign	Het
Coro2b	C	T	9: 62,425,841	V120I	probably benign	Het
Cyp20a1	C	A	1: 60,376,194		probably benign	Het
Cyp2c67	C	A	19: 39,643,264		probably benign	Het
Dclk3	A	G	9: 111,468,054	H222R	probably benign	Het
Deaf1	A	G	7: 141,324,147	S109P	possibly damaging	Het
Dlg5	T	A	14: 24,144,448	D1675V	probably damaging	Het
Dsg2	T	A	18: 20,594,211	V605E	probably benign	Het
Frem2	A	T	3: 53,572,455	I1939N	possibly damaging	Het
Fsip2	A	T	2: 82,981,587	Y2750F	possibly damaging	Het
Gpr39	T	A	1: 125,872,424	I304N	probably damaging	Het
Hdac7	G	A	15: 97,809,529		probably benign	Het
Hipk1	T	C	3: 103,778,164	H45R	probably benign	Het
Hyal2	T	C	9: 107,570,187	L13P	probably damaging	Het
Kdm1b	C	T	13: 47,068,521	R479W	probably damaging	Het
Lilr4b	A	G	10: 51,481,421	T118A	probably damaging	Het
Lin7a	C	A	10: 107,412,069	F78L	possibly damaging	Het
Lpin3	A	G	2: 160,895,390	D119G	possibly damaging	Het
Lrp2	G	A	2: 69,500,730	R1661C	probably damaging	Het
Lrrc45	A	G	11: 120,720,018	K527E	probably benign	Het
Map10	C	T	8: 125,670,872	P335S	probably benign	Het
Mast3	A	G	8: 70,792,311	S2P	possibly damaging	Het
Mbtps1	A	G	8: 119,542,069		probably benign	Het
Mms22l	T	A	4: 24,591,084	N1018K	probably benign	Het
Nckipsd	C	A	9: 108,812,372	A244D	possibly damaging	Het
Olfr1294	A	G	2: 111,537,797	V164A	probably benign	Het
Olfr3	A	T	2: 36,813,057	F12I	probably damaging	Het
Olfr358	C	A	2: 37,005,127	L162F	probably damaging	Het
Olfr592	T	A	7: 103,187,214	F204L	probably benign	Het
Olfr876	T	A	9: 37,803,947	I12N	possibly damaging	Het
Pcx	A	T	19: 4,602,223	D112V	probably damaging	Het
Phf14	G	A	6: 11,987,683		probably null	Het
Pkd1l1	A	G	11: 8,901,200	I744T	probably damaging	Het
Ppip5k2	A	G	1: 97,740,882	L560P	probably damaging	Het
Psmd14	A	T	2: 61,785,530	M248L	probably benign	Het
Ryr1	T	G	7: 29,083,537	E1884A	possibly damaging	Het
Scn4b	T	A	9: 45,150,429	S204R	probably damaging	Het
Slc12a1	A	T	2: 125,184,857	M471L	possibly damaging	Het
Slc17a5	A	G	9: 78,560,800	V236A	probably benign	Het
Sobp	T	C	10: 43,021,724	T622A	probably damaging	Het
Spata31d1a	G	T	13: 59,702,242	R691S	probably benign	Het
Speg	A	G	1: 75,421,951	E2014G	probably damaging	Het
Steap4	A	G	5: 7,975,902		probably benign	Het
Tas2r144	G	A	6: 42,215,603	M92I	probably benign	Het
Tbc1d5	T	C	17: 50,935,532	Q179R	probably benign	Het
Tcf25	T	C	8: 123,388,587	Y188H	probably benign	Het
Tmem2	G	T	19: 21,812,573	A668S	probably benign	Het
Tmem200a	G	A	10: 26,078,620		probably benign	Het
Trappc9	G	A	15: 73,025,967	R377W	probably damaging	Het
Tssk5	T	C	15: 76,372,209	T337A	probably benign	Het
Ttc23	T	C	7: 67,678,995	V228A	probably benign	Het
Tulp1	A	T	17: 28,362,671		probably benign	Het
Uqcc3	A	G	19: 8,880,753	F25L	probably damaging	Het
Vmn2r1	G	A	3: 64,089,573	G217S	probably damaging	Het
Vmn2r120	C	T	17: 57,522,374	E508K	probably benign	Het
Wdfy3	C	A	5: 101,844,081	V3451L	probably benign	Het
Wdr19	G	A	5: 65,224,690	V418I	probably benign	Het
Wdr60	T	C	12: 116,231,784		probably benign	Het
Xirp2	C	T	2: 67,508,039	T208I	probably benign	Het
Xpnpep1	A	G	19: 52,991,676	V639A	probably benign	Het

Other mutations in Abcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Abcc6	APN	7	46002672	splice site	probably benign
IGL01731:Abcc6	APN	7	46002610	missense	possibly damaging	0.71
IGL01743:Abcc6	APN	7	45996814	missense	probably benign	0.02
IGL01757:Abcc6	APN	7	45990281	splice site	probably benign
IGL01895:Abcc6	APN	7	46029058	missense	possibly damaging	0.88
IGL01942:Abcc6	APN	7	45986573	missense	possibly damaging	0.89
IGL02251:Abcc6	APN	7	45977416	missense	probably damaging	1.00
IGL02277:Abcc6	APN	7	46001061	missense	probably benign	0.00
IGL02548:Abcc6	APN	7	46005262	missense	probably damaging	0.98
IGL03063:Abcc6	APN	7	46016432	missense	probably benign
IGL03092:Abcc6	APN	7	45986470	missense	probably damaging	1.00
IGL03251:Abcc6	APN	7	45982237	unclassified	probably benign
R0057:Abcc6	UTSW	7	46020143	missense	probably benign	0.03
R0944:Abcc6	UTSW	7	46015505	missense	possibly damaging	0.81
R1019:Abcc6	UTSW	7	46014107	missense	possibly damaging	0.77
R1183:Abcc6	UTSW	7	45985253	missense	probably damaging	0.99
R1550:Abcc6	UTSW	7	46005244	missense	probably benign	0.25
R1725:Abcc6	UTSW	7	45992357	missense	possibly damaging	0.76
R1907:Abcc6	UTSW	7	46014169	missense	probably benign	0.04
R1908:Abcc6	UTSW	7	46020134	splice site	probably null
R1909:Abcc6	UTSW	7	46020134	splice site	probably null
R2138:Abcc6	UTSW	7	45981051	missense	probably damaging	1.00
R2145:Abcc6	UTSW	7	45998741	missense	probably benign	0.01
R2402:Abcc6	UTSW	7	46015575	missense	probably benign	0.04
R3983:Abcc6	UTSW	7	45995289	missense	probably benign
R4013:Abcc6	UTSW	7	46018680	missense	probably benign	0.01
R4051:Abcc6	UTSW	7	45986563	missense	probably damaging	1.00
R4052:Abcc6	UTSW	7	45986563	missense	probably damaging	1.00
R4208:Abcc6	UTSW	7	45986563	missense	probably damaging	1.00
R4362:Abcc6	UTSW	7	45998832	splice site	probably benign
R4385:Abcc6	UTSW	7	45995328	missense	possibly damaging	0.93
R4399:Abcc6	UTSW	7	46002607	missense	probably benign
R4479:Abcc6	UTSW	7	46005239	missense	possibly damaging	0.60
R4480:Abcc6	UTSW	7	46005239	missense	possibly damaging	0.60
R4780:Abcc6	UTSW	7	45996691	missense	probably benign
R4791:Abcc6	UTSW	7	45982160	missense	probably benign	0.00
R4895:Abcc6	UTSW	7	45980990	missense	possibly damaging	0.95
R4898:Abcc6	UTSW	7	45989687	missense	probably damaging	0.96
R4905:Abcc6	UTSW	7	45995225	missense	probably benign
R4941:Abcc6	UTSW	7	46012523	missense	probably benign	0.00
R5040:Abcc6	UTSW	7	46020154	missense	probably benign	0.04
R5128:Abcc6	UTSW	7	45989646	missense	probably benign	0.00
R5284:Abcc6	UTSW	7	45981059	missense	probably benign	0.05
R5328:Abcc6	UTSW	7	45992311	missense	probably benign	0.01
R5459:Abcc6	UTSW	7	45982183	missense	probably benign	0.00
R5543:Abcc6	UTSW	7	45989536	critical splice donor site	probably null
R6178:Abcc6	UTSW	7	46029044	missense	probably benign
R6228:Abcc6	UTSW	7	46030256	missense	probably benign	0.02
R6532:Abcc6	UTSW	7	45977379	missense	probably damaging	1.00
R6605:Abcc6	UTSW	7	45981057	missense	probably damaging	1.00
R7000:Abcc6	UTSW	7	46005522	missense	possibly damaging	0.60
R7067:Abcc6	UTSW	7	46018690	missense	probably benign
R7553:Abcc6	UTSW	7	45999121	missense	probably damaging	1.00
R7597:Abcc6	UTSW	7	45995237	missense	probably damaging	1.00
R7718:Abcc6	UTSW	7	45977392	missense	possibly damaging	0.91
R7781:Abcc6	UTSW	7	46005606	missense	probably damaging	1.00
R7798:Abcc6	UTSW	7	45976853	nonsense	probably null
R7896:Abcc6	UTSW	7	45977379	missense	probably damaging	1.00
R8098:Abcc6	UTSW	7	45996665	missense	probably damaging	1.00
R8443:Abcc6	UTSW	7	45980025	missense	probably damaging	1.00
R8773:Abcc6	UTSW	7	45985145	missense	probably benign
R8784:Abcc6	UTSW	7	46002601	missense	probably benign
R8802:Abcc6	UTSW	7	46008859	missense	probably damaging	0.99
R8807:Abcc6	UTSW	7	45999007	missense	possibly damaging	0.67
X0065:Abcc6	UTSW	7	46020197	missense	probably damaging	0.99
Z1176:Abcc6	UTSW	7	45979734	missense	probably damaging	1.00
Z1176:Abcc6	UTSW	7	45992306	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTGCTGCTGAGTGTCCTTTACC -3'
(R):5'- AAGAGCTTCCCCTTCGAGTTGTTG -3'

Sequencing Primer
(F):5'- GAGTGTCCTTTACCAGGATCTC -3'
(R):5'- CTGAACTTCTGACTCCAGAGAG -3'

Posted On

2014-04-13