Mutagenetix > Incidental Mutation

Incidental Mutation 'R4791:Abcc6'

368575

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

041976-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R4791 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45982160 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 1231 (V1231M)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably benign
Transcript: ENSMUST00000002850
AA Change: V1231M

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: V1231M

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

probably benign
Transcript: ENSMUST00000211220

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	G	T	6: 50,595,837 (GRCm38)	P32Q	probably damaging	Het
Agl	A	G	3: 116,786,528 (GRCm38)		probably null	Het
Ak7	T	C	12: 105,710,145 (GRCm38)	F35L	probably benign	Het
Aldh1a1	A	G	19: 20,619,985 (GRCm38)	N110S	probably damaging	Het
Arhgef5	C	T	6: 43,283,183 (GRCm38)	L1368F	probably damaging	Het
Atp5j2	T	C	5: 145,184,555 (GRCm38)	Y72C	possibly damaging	Het
Atp6v0a2	T	G	5: 124,646,727 (GRCm38)	F317V	probably benign	Het
Bank1	A	T	3: 136,254,929 (GRCm38)	S56T	probably benign	Het
BC080695	A	G	4: 143,570,989 (GRCm38)		probably benign	Het
Cachd1	T	A	4: 100,918,085 (GRCm38)	C166S	probably damaging	Het
Cand1	A	G	10: 119,210,702 (GRCm38)	I961T	probably benign	Het
Ccdc73	G	A	2: 104,981,105 (GRCm38)		probably null	Het
Cct6b	A	T	11: 82,742,004 (GRCm38)		probably null	Het
Chd2	A	C	7: 73,468,577 (GRCm38)	S1098A	probably benign	Het
Col6a4	A	T	9: 106,080,202 (GRCm38)	V141E	possibly damaging	Het
Col6a5	T	C	9: 105,930,784 (GRCm38)	T1022A	unknown	Het
Cr2	A	T	1: 195,155,935 (GRCm38)	C698S	probably damaging	Het
Diexf	G	A	1: 193,128,267 (GRCm38)	H143Y	probably benign	Het
Dnaaf5	C	A	5: 139,184,650 (GRCm38)	Q786K	possibly damaging	Het
Dnah6	T	C	6: 73,095,074 (GRCm38)	D2423G	probably benign	Het
Dnhd1	T	C	7: 105,721,117 (GRCm38)	F4583S	probably damaging	Het
Duoxa2	A	T	2: 122,301,198 (GRCm38)	T123S	probably damaging	Het
Edem1	T	G	6: 108,841,634 (GRCm38)	V201G	probably damaging	Het
Eef1d	C	T	15: 75,903,682 (GRCm38)	A43T	possibly damaging	Het
Elavl3	T	C	9: 22,024,678 (GRCm38)	K249E	probably damaging	Het
Epg5	G	T	18: 77,948,996 (GRCm38)	E303*	probably null	Het
Fam83h	T	C	15: 76,002,368 (GRCm38)	D1040G	probably damaging	Het
Fndc7	A	T	3: 108,876,659 (GRCm38)	F211L	probably benign	Het
Fsip2	A	G	2: 82,982,108 (GRCm38)	T2924A	possibly damaging	Het
Gm5616	T	C	9: 48,450,683 (GRCm38)		noncoding transcript	Het
Gpr135	T	A	12: 72,069,868 (GRCm38)	D375V	probably benign	Het
Hgd	A	G	16: 37,631,825 (GRCm38)	*446W	probably null	Het
Hivep2	C	A	10: 14,128,969 (GRCm38)	T437K	probably benign	Het
Htra2	A	G	6: 83,051,817 (GRCm38)	L379P	probably damaging	Het
Hypk	G	T	2: 121,457,655 (GRCm38)		probably null	Het
Ica1l	A	G	1: 60,010,201 (GRCm38)	F198L	probably damaging	Het
Igsf11	G	A	16: 39,024,864 (GRCm38)	S319N	probably damaging	Het
Il12rb1	T	C	8: 70,813,368 (GRCm38)	S213P	possibly damaging	Het
Katnal1	C	T	5: 148,904,650 (GRCm38)	V135M	probably damaging	Het
Kcnc4	G	A	3: 107,447,543 (GRCm38)	P530S	probably benign	Het
Kcnu1	T	C	8: 25,913,752 (GRCm38)	Y24H	probably damaging	Het
Kdm5b	A	G	1: 134,630,800 (GRCm38)	E1515G	possibly damaging	Het
Kif18a	A	T	2: 109,287,875 (GRCm38)	M12L	probably benign	Het
Klre1	T	C	6: 129,584,155 (GRCm38)	S160P	probably damaging	Het
Lama2	A	T	10: 27,467,271 (GRCm38)	H68Q	probably damaging	Het
Lgals8	T	C	13: 12,453,322 (GRCm38)	K49R	possibly damaging	Het
Lmf1	G	A	17: 25,654,471 (GRCm38)	V317M	probably damaging	Het
Lsr	T	C	7: 30,958,552 (GRCm38)	T328A	probably damaging	Het
Mark4	C	T	7: 19,451,657 (GRCm38)	E51K	probably benign	Het
Mindy2	T	C	9: 70,634,001 (GRCm38)		probably null	Het
Mkks	G	A	2: 136,876,162 (GRCm38)	T400I	probably benign	Het
Mon2	T	A	10: 123,006,057 (GRCm38)	M1544L	probably benign	Het
Mrc2	G	A	11: 105,348,431 (GRCm38)		probably null	Het
Myo5c	T	G	9: 75,290,916 (GRCm38)	L1341R	probably damaging	Het
Nin	T	C	12: 70,043,807 (GRCm38)	R945G	possibly damaging	Het
Nox4	T	C	7: 87,304,847 (GRCm38)	V120A	probably benign	Het
Olfr1196	C	T	2: 88,700,898 (GRCm38)	V144I	probably benign	Het
Olfr1496	T	A	19: 13,781,342 (GRCm38)	C243*	probably null	Het
Olfr169	G	T	16: 19,566,663 (GRCm38)	H73Q	possibly damaging	Het
Olfr30	A	T	11: 58,455,544 (GRCm38)	V135E	possibly damaging	Het
Olfr847	T	C	9: 19,375,809 (GRCm38)	E24G	probably benign	Het
Plekha2	T	A	8: 25,042,762 (GRCm38)	R398W	probably damaging	Het
Pradc1	A	G	6: 85,447,191 (GRCm38)	W58R	probably damaging	Het
Prrc2b	A	G	2: 32,217,339 (GRCm38)		probably null	Het
Psg19	T	A	7: 18,794,146 (GRCm38)	N224I	probably damaging	Het
Ranbp17	A	C	11: 33,487,746 (GRCm38)	V164G	probably benign	Het
Rasgrp3	A	G	17: 75,500,173 (GRCm38)	S211G	probably benign	Het
Rcc1l	G	A	5: 134,163,776 (GRCm38)	P270S	possibly damaging	Het
Rfx6	T	A	10: 51,719,944 (GRCm38)		probably null	Het
Rnf222	A	T	11: 68,893,019 (GRCm38)	E137D	probably damaging	Het
Selenof	T	G	3: 144,596,823 (GRCm38)	Y120D	probably damaging	Het
Sema3b	G	T	9: 107,603,813 (GRCm38)	D108E	probably damaging	Het
Shank3	T	A	15: 89,500,354 (GRCm38)	L143Q	probably damaging	Het
Shtn1	G	C	19: 59,050,873 (GRCm38)	R45G	probably damaging	Het
Sirt4	T	C	5: 115,480,314 (GRCm38)	T234A	possibly damaging	Het
Slc25a30	C	A	14: 75,763,366 (GRCm38)	W266L	probably benign	Het
Spata20	A	T	11: 94,484,586 (GRCm38)	N127K	probably damaging	Het
St14	C	T	9: 31,095,622 (GRCm38)	G636D	probably benign	Het
Stat5a	G	A	11: 100,865,463 (GRCm38)	E170K	probably damaging	Het
Sugp2	C	T	8: 70,242,790 (GRCm38)	R138C	probably damaging	Het
Sult1e1	C	A	5: 87,586,730 (GRCm38)	W119L	possibly damaging	Het
Sv2a	T	C	3: 96,192,558 (GRCm38)	V608A	possibly damaging	Het
Syne2	T	C	12: 75,909,244 (GRCm38)	Y575H	possibly damaging	Het
Taok2	G	A	7: 126,868,132 (GRCm38)	S167L	possibly damaging	Het
Thoc6	T	C	17: 23,670,067 (GRCm38)	H151R	possibly damaging	Het
Tm9sf2	T	C	14: 122,139,650 (GRCm38)	S197P	probably benign	Het
Tmem260	CAGGGACCGGCATAG	CAG	14: 48,511,994 (GRCm38)		probably benign	Het
Tmx2	G	A	2: 84,677,996 (GRCm38)	P15L	probably damaging	Het
Top1mt	C	T	15: 75,668,625 (GRCm38)		probably null	Het
Trpm6	T	A	19: 18,867,981 (GRCm38)	S1682T	probably benign	Het
Trrap	C	T	5: 144,803,277 (GRCm38)	R1171W	probably damaging	Het
Ugt3a2	A	G	15: 9,361,579 (GRCm38)	D147G	probably damaging	Het
Vnn3	A	G	10: 23,864,621 (GRCm38)	H274R	probably benign	Het
Vwf	C	A	6: 125,643,363 (GRCm38)	T1668K		Het
Zfp568	T	C	7: 30,015,183 (GRCm38)	S162P	probably damaging	Het
Zfp658	T	A	7: 43,574,466 (GRCm38)	C722S	possibly damaging	Het
Zfp808	T	A	13: 62,171,231 (GRCm38)	H91Q	probably damaging	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
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'- TGACATACCCAGCAGAGCTAG -3'
(R):5'- TCTTATTAGCCAAGCCCCAC -3'

Sequencing Primer
(F):5'- GTAAGCAGGGTTTTAACTCTTCAC -3'
(R):5'- GGCCCAGGTCCTCAACTTC -3'

Posted On

2016-02-04