Mutagenetix > Incidental Mutation

Incidental Mutation 'R6532:Abcc6'

522417

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

044658-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R6532 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45977379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1418 (L1418P)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002850
AA Change: L1418P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: L1418P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209985

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210043

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210962

Predicted Effect

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 91.1%

Validation Efficiency

100% (34/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adal	A	G	2: 121,146,123 (GRCm38)		probably null	Het
Akap2	T	C	4: 57,855,174 (GRCm38)	F168L	probably benign	Het
Atr	T	A	9: 95,908,408 (GRCm38)	N1600K	probably benign	Het
Cubn	T	C	2: 13,459,002 (GRCm38)	T631A	probably benign	Het
Dpp9	C	T	17: 56,205,854 (GRCm38)	G118D	possibly damaging	Het
Ear1	C	T	14: 43,819,252 (GRCm38)	R53H	probably benign	Het
Exoc1	T	C	5: 76,537,837 (GRCm38)	V132A	probably damaging	Het
Fam227a	C	T	15: 79,636,720 (GRCm38)	R301Q	probably benign	Het
Garnl3	A	T	2: 33,031,119 (GRCm38)	M298K	possibly damaging	Het
Glb1l3	T	C	9: 26,818,442 (GRCm38)	D619G	probably benign	Het
Haspin	A	T	11: 73,137,551 (GRCm38)	C237*	probably null	Het
Hook1	T	G	4: 96,019,756 (GRCm38)		probably null	Het
Hoxa7	A	G	6: 52,217,315 (GRCm38)	F31L	probably benign	Het
Hoxb7	C	A	11: 96,286,888 (GRCm38)	S54*	probably null	Het
Idh3b	AG	AGCACCACAACTG	2: 130,279,673 (GRCm38)		probably null	Het
Ifi207	A	G	1: 173,729,645 (GRCm38)	V516A	possibly damaging	Het
Inca1	T	C	11: 70,695,907 (GRCm38)	M1V	probably null	Het
Kcnt2	A	G	1: 140,584,106 (GRCm38)	T933A	probably damaging	Het
Lama4	G	A	10: 39,048,077 (GRCm38)	D494N	possibly damaging	Het
Lrp1	A	C	10: 127,541,682 (GRCm38)	H4133Q	probably damaging	Het
Lrp1	A	G	10: 127,549,407 (GRCm38)	F3542L	probably damaging	Het
Myo1f	A	G	17: 33,575,846 (GRCm38)	D20G	probably damaging	Het
Nlk	G	T	11: 78,696,055 (GRCm38)	A71E	probably damaging	Het
Nvl	G	A	1: 181,144,143 (GRCm38)		probably null	Het
Olfr1154	A	T	2: 87,903,202 (GRCm38)	I158N	probably damaging	Het
Pcnx	C	A	12: 81,980,964 (GRCm38)	H1601N	probably damaging	Het
Pnkp	T	A	7: 44,857,405 (GRCm38)	M1K	probably null	Het
Skiv2l	G	A	17: 34,844,743 (GRCm38)	R575C	probably damaging	Het
Slc25a54	A	G	3: 109,112,052 (GRCm38)	Y324C	probably damaging	Het
Tdrd3	A	G	14: 87,505,816 (GRCm38)	E400G	probably damaging	Het
Unc5b	A	G	10: 60,778,828 (GRCm38)	I230T	possibly damaging	Het
Wfdc2	A	G	2: 164,563,376 (GRCm38)	T50A	probably benign	Het
Zfp563	A	G	17: 33,105,698 (GRCm38)	I422M	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
R1019:Abcc6	UTSW	7	46,014,107 (GRCm38)	missense	possibly damaging	0.77
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
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'- ACTTGCACACGTTCCATGTC -3'
(R):5'- GAAGACTTGGGTCCTCATGG -3'

Sequencing Primer
(F):5'- ACACGTTCCATGTCTTCCCATG -3'
(R):5'- CTCATGGTGGGATGGGGAC -3'

Posted On

2018-06-06