Mutagenetix > Incidental Mutation

Incidental Mutation 'R1019:Abcc6'

96740

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

039123-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R1019 (G1)

Quality Score

135

Status

Not validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46014107 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 378 (R378G)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002850
AA Change: R378G

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: R378G

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.0%

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	C	8: 120,145,470 (GRCm38)	E46Q	probably damaging	Het
9130401M01Rik	A	G	15: 58,022,427 (GRCm38)	I353T	possibly damaging	Het
A830031A19Rik	G	A	11: 24,049,438 (GRCm38)	R53C	unknown	Het
Adam10	A	G	9: 70,761,640 (GRCm38)	N413D	probably benign	Het
Csmd2	T	C	4: 128,522,014 (GRCm38)	V2712A	probably benign	Het
Dnhd1	T	C	7: 105,709,171 (GRCm38)	F3289S	probably damaging	Het
Hectd1	A	G	12: 51,748,657 (GRCm38)	S2330P	probably damaging	Het
Ift74	C	T	4: 94,635,835 (GRCm38)	A196V	probably benign	Het
Kifc1	G	A	17: 33,884,711 (GRCm38)	R195C	probably benign	Het
Lipo2	A	T	19: 33,730,857 (GRCm38)	C252*	probably null	Het
Mrgpra1	C	G	7: 47,335,085 (GRCm38)	C282S	probably benign	Het
Nfatc2	A	T	2: 168,504,879 (GRCm38)	L765Q	probably damaging	Het
Olfr355	A	G	2: 36,927,752 (GRCm38)	F121L	probably benign	Het
Olfr541	C	T	7: 140,704,494 (GRCm38)	P81L	probably damaging	Het
Otof	C	A	5: 30,370,743 (GRCm38)	V1924L	probably damaging	Het
Pdhb	T	C	14: 8,171,442 (GRCm38)	Q62R	probably benign	Het
Plbd1	A	G	6: 136,651,905 (GRCm38)	V55A	probably benign	Het
Poteg	T	A	8: 27,447,824 (GRCm38)	F3I	possibly damaging	Het
Rptor	A	G	11: 119,843,743 (GRCm38)	D46G	probably damaging	Het
Slc18a1	C	T	8: 69,075,033 (GRCm38)		probably null	Het
Slc37a1	A	G	17: 31,315,594 (GRCm38)	N80S	probably benign	Het
Slc6a18	T	A	13: 73,677,879 (GRCm38)	R17S	probably damaging	Het
Spata31d1a	A	G	13: 59,702,368 (GRCm38)	S649P	probably benign	Het
Syngr3	G	T	17: 24,687,560 (GRCm38)	Q94K	possibly damaging	Het
Tgm2	C	A	2: 158,124,154 (GRCm38)	E527*	probably null	Het
Tnc	T	A	4: 63,962,082 (GRCm38)	T1952S	probably damaging	Het
Ubqln3	C	T	7: 104,141,386 (GRCm38)	R499Q	probably benign	Het
Uck1	A	G	2: 32,256,193 (GRCm38)	V230A	possibly damaging	Het
Unc13d	G	A	11: 116,068,074 (GRCm38)	R754C	probably benign	Het
Zfp708	C	T	13: 67,074,098 (GRCm38)	A73T	probably benign	Het

Other mutations in Abcc6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Abcc6	APN	7	46,002,672 (GRCm38)	splice site	probably benign
IGL01731:Abcc6	APN	7	46,002,610 (GRCm38)	missense	possibly damaging	0.71
IGL01743:Abcc6	APN	7	45,996,814 (GRCm38)	missense	probably benign	0.02
IGL01757:Abcc6	APN	7	45,990,281 (GRCm38)	splice site	probably benign
IGL01895:Abcc6	APN	7	46,029,058 (GRCm38)	missense	possibly damaging	0.88
IGL01942:Abcc6	APN	7	45,986,573 (GRCm38)	missense	possibly damaging	0.89
IGL02251:Abcc6	APN	7	45,977,416 (GRCm38)	missense	probably damaging	1.00
IGL02277:Abcc6	APN	7	46,001,061 (GRCm38)	missense	probably benign	0.00
IGL02548:Abcc6	APN	7	46,005,262 (GRCm38)	missense	probably damaging	0.98
IGL03063:Abcc6	APN	7	46,016,432 (GRCm38)	missense	probably benign
IGL03092:Abcc6	APN	7	45,986,470 (GRCm38)	missense	probably damaging	1.00
IGL03251:Abcc6	APN	7	45,982,237 (GRCm38)	unclassified	probably benign
R0057:Abcc6	UTSW	7	46,020,143 (GRCm38)	missense	probably benign	0.03
R0944:Abcc6	UTSW	7	46,015,505 (GRCm38)	missense	possibly damaging	0.81
R1183:Abcc6	UTSW	7	45,985,253 (GRCm38)	missense	probably damaging	0.99
R1543:Abcc6	UTSW	7	46,016,504 (GRCm38)	missense	probably benign	0.01
R1550:Abcc6	UTSW	7	46,005,244 (GRCm38)	missense	probably benign	0.25
R1725:Abcc6	UTSW	7	45,992,357 (GRCm38)	missense	possibly damaging	0.76
R1907:Abcc6	UTSW	7	46,014,169 (GRCm38)	missense	probably benign	0.04
R1908:Abcc6	UTSW	7	46,020,134 (GRCm38)	splice site	probably null
R1909:Abcc6	UTSW	7	46,020,134 (GRCm38)	splice site	probably null
R2138:Abcc6	UTSW	7	45,981,051 (GRCm38)	missense	probably damaging	1.00
R2145:Abcc6	UTSW	7	45,998,741 (GRCm38)	missense	probably benign	0.01
R2402:Abcc6	UTSW	7	46,015,575 (GRCm38)	missense	probably benign	0.04
R3983:Abcc6	UTSW	7	45,995,289 (GRCm38)	missense	probably benign
R4013:Abcc6	UTSW	7	46,018,680 (GRCm38)	missense	probably benign	0.01
R4051:Abcc6	UTSW	7	45,986,563 (GRCm38)	missense	probably damaging	1.00
R4052:Abcc6	UTSW	7	45,986,563 (GRCm38)	missense	probably damaging	1.00
R4208:Abcc6	UTSW	7	45,986,563 (GRCm38)	missense	probably damaging	1.00
R4362:Abcc6	UTSW	7	45,998,832 (GRCm38)	splice site	probably benign
R4385:Abcc6	UTSW	7	45,995,328 (GRCm38)	missense	possibly damaging	0.93
R4399:Abcc6	UTSW	7	46,002,607 (GRCm38)	missense	probably benign
R4479:Abcc6	UTSW	7	46,005,239 (GRCm38)	missense	possibly damaging	0.60
R4480:Abcc6	UTSW	7	46,005,239 (GRCm38)	missense	possibly damaging	0.60
R4780:Abcc6	UTSW	7	45,996,691 (GRCm38)	missense	probably benign
R4791:Abcc6	UTSW	7	45,982,160 (GRCm38)	missense	probably benign	0.00
R4895:Abcc6	UTSW	7	45,980,990 (GRCm38)	missense	possibly damaging	0.95
R4898:Abcc6	UTSW	7	45,989,687 (GRCm38)	missense	probably damaging	0.96
R4905:Abcc6	UTSW	7	45,995,225 (GRCm38)	missense	probably benign
R4941:Abcc6	UTSW	7	46,012,523 (GRCm38)	missense	probably benign	0.00
R5040:Abcc6	UTSW	7	46,020,154 (GRCm38)	missense	probably benign	0.04
R5128:Abcc6	UTSW	7	45,989,646 (GRCm38)	missense	probably benign	0.00
R5284:Abcc6	UTSW	7	45,981,059 (GRCm38)	missense	probably benign	0.05
R5328:Abcc6	UTSW	7	45,992,311 (GRCm38)	missense	probably benign	0.01
R5459:Abcc6	UTSW	7	45,982,183 (GRCm38)	missense	probably benign	0.00
R5543:Abcc6	UTSW	7	45,989,536 (GRCm38)	critical splice donor site	probably null
R6178:Abcc6	UTSW	7	46,029,044 (GRCm38)	missense	probably benign
R6228:Abcc6	UTSW	7	46,030,256 (GRCm38)	missense	probably benign	0.02
R6532:Abcc6	UTSW	7	45,977,379 (GRCm38)	missense	probably damaging	1.00
R6605:Abcc6	UTSW	7	45,981,057 (GRCm38)	missense	probably damaging	1.00
R7000:Abcc6	UTSW	7	46,005,522 (GRCm38)	missense	possibly damaging	0.60
R7067:Abcc6	UTSW	7	46,018,690 (GRCm38)	missense	probably benign
R7553:Abcc6	UTSW	7	45,999,121 (GRCm38)	missense	probably damaging	1.00
R7597:Abcc6	UTSW	7	45,995,237 (GRCm38)	missense	probably damaging	1.00
R7718:Abcc6	UTSW	7	45,977,392 (GRCm38)	missense	possibly damaging	0.91
R7781:Abcc6	UTSW	7	46,005,606 (GRCm38)	missense	probably damaging	1.00
R7798:Abcc6	UTSW	7	45,976,853 (GRCm38)	nonsense	probably null
R7896:Abcc6	UTSW	7	45,977,379 (GRCm38)	missense	probably damaging	1.00
R8098:Abcc6	UTSW	7	45,996,665 (GRCm38)	missense	probably damaging	1.00
R8443:Abcc6	UTSW	7	45,980,025 (GRCm38)	missense	probably damaging	1.00
R8773:Abcc6	UTSW	7	45,985,145 (GRCm38)	missense	probably benign
R8784:Abcc6	UTSW	7	46,002,601 (GRCm38)	missense	probably benign
R8802:Abcc6	UTSW	7	46,008,859 (GRCm38)	missense	probably damaging	0.99
R8807:Abcc6	UTSW	7	45,999,007 (GRCm38)	missense	possibly damaging	0.67
R9006:Abcc6	UTSW	7	46,016,396 (GRCm38)	missense	probably benign	0.00
R9127:Abcc6	UTSW	7	45,979,760 (GRCm38)	missense	probably damaging	1.00
R9475:Abcc6	UTSW	7	46,016,468 (GRCm38)	missense	probably damaging	1.00
R9480:Abcc6	UTSW	7	45,979,773 (GRCm38)	missense	probably damaging	1.00
R9535:Abcc6	UTSW	7	45,977,263 (GRCm38)	missense	probably damaging	1.00
R9642:Abcc6	UTSW	7	45,990,341 (GRCm38)	missense	probably benign	0.07
R9715:Abcc6	UTSW	7	45,979,935 (GRCm38)	missense	probably damaging	1.00
R9731:Abcc6	UTSW	7	46,020,236 (GRCm38)	nonsense	probably null
X0065:Abcc6	UTSW	7	46,020,197 (GRCm38)	missense	probably damaging	0.99
Z1176:Abcc6	UTSW	7	45,992,306 (GRCm38)	critical splice donor site	probably null
Z1176:Abcc6	UTSW	7	45,979,734 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGAAGTCACTGTCCCTTGCTTG -3'
(R):5'- TGAGTCCTAGCCCCAACTAGAGCC -3'

Sequencing Primer
(F):5'- ACAGAGCGTTAACCAAGGAG -3'
(R):5'- gacctccatccccaccc -3'

Posted On

2014-01-05