Mutagenetix > Incidental Mutation

Incidental Mutation 'R4052:Abcc6'

314200

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R4052 ()

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45986563 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Arginine at position 1020 (L1020R)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002850
AA Change: L1020R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: L1020R

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

0.9464

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.5%

Validation Efficiency

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110070M22Rik	T	G	13: 119,488,202		probably benign	Het
Abca8b	G	A	11: 109,981,725	Q17*	probably null	Het
Ace2	A	G	X: 164,169,585	I110V	probably benign	Het
Adam29	T	C	8: 55,872,282	Y379C	probably damaging	Het
Apol10a	A	T	15: 77,488,985	I274L	probably benign	Het
BC005537	T	A	13: 24,809,898	F119I	possibly damaging	Het
Crygs	C	T	16: 22,805,551	G102D	possibly damaging	Het
Cts3	T	A	13: 61,568,721	I34L	probably benign	Het
Cyp4a30b	A	G	4: 115,454,342	D69G	probably benign	Het
Dclk2	A	G	3: 86,830,822		probably null	Het
Dhx30	A	G	9: 110,100,821	V69A	possibly damaging	Het
Dis3	T	G	14: 99,095,316	I227L	probably benign	Het
Dock3	A	G	9: 106,973,796	S836P	probably damaging	Het
Efhc2	T	C	X: 17,230,550	N186S	possibly damaging	Het
Erap1	A	G	13: 74,675,340	N831S	probably benign	Het
Gimap3	T	A	6: 48,766,513	T3S	possibly damaging	Het
Gpr82	C	T	X: 13,665,659	P149S	probably damaging	Het
H3f3a	C	T	1: 180,803,138	R117H	probably benign	Het
Hcn2	A	C	10: 79,733,687		probably null	Het
Helz2	A	G	2: 181,240,475	L175P	probably damaging	Het
Il1f8	T	C	2: 24,159,832	F152L	probably damaging	Het
Ino80b	G	C	6: 83,122,333	P178R	probably damaging	Het
Ldlrad3	C	T	2: 101,953,162	D240N	probably damaging	Het
Lef1	A	G	3: 131,194,689	N236D	probably damaging	Het
Macf1	A	G	4: 123,472,017	S1419P	probably benign	Het
Me2	T	C	18: 73,791,085	K352R	probably benign	Het
Ncapd3	T	A	9: 27,089,383		probably null	Het
Olfr665	A	G	7: 104,881,603	T299A	probably damaging	Het
P2rx7	T	C	5: 122,666,277	F293S	probably damaging	Het
Pabpc1l	T	C	2: 164,043,613	W429R	probably benign	Het
Parp14	T	C	16: 35,858,401	E399G	probably benign	Het
Pde6h	A	G	6: 136,959,268	D3G	unknown	Het
Pfkfb1	A	T	X: 150,622,188	D208V	possibly damaging	Het
Rasgrp3	T	C	17: 75,496,968	F89L	probably damaging	Het
Rif1	A	T	2: 52,098,471	K741*	probably null	Het
Rnase4	A	G	14: 51,105,005	K62R	probably benign	Het
Rnf207	C	A	4: 152,311,437	Q533H	probably benign	Het
Slc24a2	A	G	4: 87,227,205	V204A	probably damaging	Het
Spry2	A	T	14: 105,893,201	C184S	probably damaging	Het
Sulf2	T	C	2: 166,094,590	Y152C	probably damaging	Het
Thrap3	G	A	4: 126,176,219	A625V	probably damaging	Het
Tmem39a	T	A	16: 38,586,288	V329D	probably damaging	Het
Trav7-3	A	G	14: 53,443,746	T82A	probably benign	Het
Trim30b	T	A	7: 104,357,478	Q57L	possibly damaging	Het
Uggt1	A	G	1: 36,164,489	V1020A	probably damaging	Het
Zfp941	T	G	7: 140,812,427	K340Q	possibly damaging	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
R1543:Abcc6	UTSW	7	46016504	missense	probably benign	0.01
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
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
R9006:Abcc6	UTSW	7	46016396	missense	probably benign	0.00
R9127:Abcc6	UTSW	7	45979760	missense	probably damaging	1.00
R9475:Abcc6	UTSW	7	46016468	missense	probably damaging	1.00
R9480:Abcc6	UTSW	7	45979773	missense	probably damaging	1.00
R9535:Abcc6	UTSW	7	45977263	missense	probably damaging	1.00
R9642:Abcc6	UTSW	7	45990341	missense	probably benign	0.07
R9715:Abcc6	UTSW	7	45979935	missense	probably damaging	1.00
R9731:Abcc6	UTSW	7	46020236	nonsense	probably null
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'- CCTGAAACCCAGCATAGAGG -3'
(R):5'- CGGCAGTGCATCTATCACATCAC -3'

Sequencing Primer
(F):5'- CCCAGCATAGAGGACCATGAG -3'
(R):5'- ATCACATCACGGTCATCTGGGTG -3'

Posted On

2015-04-30