Mutagenetix > Incidental Mutation

Incidental Mutation 'R7718:Abcc6'

595041

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

Accession Numbers

Essential gene?

Probably essential (E-score: 0.773) question?

Stock #

R7718 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45977392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 1414 (K1414E)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002850
AA Change: K1414E

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: K1414E

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

Meta Mutation Damage Score

0.1111

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (77/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921507P07Rik	G	A	6: 50,589,098		probably null	Het
9530053A07Rik	T	C	7: 28,147,201	F1106S	probably damaging	Het
A430033K04Rik	A	T	5: 138,647,860	H669L	possibly damaging	Het
A930017K11Rik	T	A	17: 25,947,024	R430*	probably null	Het
Abcb1a	A	T	5: 8,715,788	N700I	probably damaging	Het
Adcy5	T	C	16: 35,280,415	V779A	probably benign	Het
Agap2	A	G	10: 127,079,865	S82G	possibly damaging	Het
Aldh1l1	A	G	6: 90,598,323	N864S	probably damaging	Het
Ang2	A	T	14: 51,195,760	V55E	probably benign	Het
Ank2	A	G	3: 126,965,013	M179T	possibly damaging	Het
Atrnl1	T	A	19: 57,740,183	C1090*	probably null	Het
Atxn1l	A	G	8: 109,733,234	L132P	probably damaging	Het
Bptf	A	G	11: 107,081,456	V862A	possibly damaging	Het
Capn11	C	A	17: 45,643,781	K143N	probably damaging	Het
Card6	A	G	15: 5,099,787	V709A	possibly damaging	Het
Cavin4	C	T	4: 48,671,984	A143V	probably benign	Het
Cntn5	A	G	9: 9,984,128	I160T	probably benign	Het
Cyp2c40	T	A	19: 39,767,338	N511Y	probably benign	Het
Dsc2	A	T	18: 20,041,778	I480N	probably damaging	Het
Elf2	G	T	3: 51,265,964		probably benign	Het
Enoph1	T	C	5: 100,062,160	V133A	possibly damaging	Het
Ezh2	A	T	6: 47,554,191	D186E	probably benign	Het
Fam196b	T	C	11: 34,402,539	S194P	probably benign	Het
Gfra1	T	C	19: 58,453,457	D14G	possibly damaging	Het
Gm9573	T	C	17: 35,622,836	T153A	unknown	Het
Gmip	C	T	8: 69,817,733	R698W	probably damaging	Het
Grk4	A	G	5: 34,694,816	N135D	probably benign	Het
Hspb6	A	G	7: 30,554,347	D95G	probably benign	Het
Htatip2	T	G	7: 49,770,884	H159Q	possibly damaging	Het
Igfn1	T	C	1: 135,969,036	E1264G	probably benign	Het
Katnb1	T	A	8: 95,095,208	V223E	possibly damaging	Het
Klra6	AGG	AG	6: 130,013,352		probably null	Het
Masp2	C	T	4: 148,602,747	R29C	probably damaging	Het
Mcm3	A	T	1: 20,817,274	C123*	probably null	Het
Mdn1	T	C	4: 32,718,420	V2225A	probably damaging	Het
Me1	A	G	9: 86,679,900	L44S	probably damaging	Het
Mlxip	A	G	5: 123,445,514	N380S	probably benign	Het
Myh14	C	T	7: 44,661,040	V140I	probably damaging	Het
Myocd	A	T	11: 65,218,626	D106E	probably damaging	Het
Oat	T	C	7: 132,558,259	I411V	probably benign	Het
Olfr1085	A	G	2: 86,658,029	V143A	probably benign	Het
Olfr483	T	C	7: 108,103,648	V113A	probably benign	Het
Olfr715	A	T	7: 107,128,718	V225D	probably damaging	Het
Orc2	A	T	1: 58,480,317	H246Q	possibly damaging	Het
Pank4	A	G	4: 154,974,643	E411G	probably damaging	Het
Patl2	A	T	2: 122,126,774		probably null	Het
Pcdhb15	A	G	18: 37,475,163	N483D	probably damaging	Het
Pcdhb20	A	G	18: 37,505,651	D410G	probably damaging	Het
Pdcl2	A	G	5: 76,317,999	C125R	probably damaging	Het
Peli3	C	G	19: 4,934,556		probably null	Het
Pkd1	A	G	17: 24,586,500	D3313G	probably benign	Het
Plec	A	C	15: 76,177,439	M2766R	probably damaging	Het
Ppargc1a	C	T	5: 51,498,162	V99M	probably damaging	Het
Psg19	G	A	7: 18,792,443	A374V	probably benign	Het
Psmd7	A	T	8: 107,586,629	F54L	possibly damaging	Het
Ptbp2	C	T	3: 119,720,988	G397R	probably null	Het
Ranbp3	A	G	17: 56,696,718	D39G	probably damaging	Het
Rcor3	T	C	1: 192,101,721	T406A	probably benign	Het
Rhbdl2	T	A	4: 123,824,919	I222K	probably damaging	Het
Ripk2	T	C	4: 16,151,968	N197S	possibly damaging	Het
Rpia	A	T	6: 70,766,618	M283K	probably damaging	Het
Rps6kc1	T	C	1: 190,871,825	D200G	probably benign	Het
Sipa1l1	A	T	12: 82,342,497	K499M	probably damaging	Het
Slc5a4b	A	G	10: 76,070,573	L404P	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
St7	A	C	6: 17,854,999	T312P	probably damaging	Het
Strbp	T	C	2: 37,625,282	E244G	probably damaging	Het
Tbc1d8	T	G	1: 39,376,980	T871P	probably benign	Het
Tcp1	T	A	17: 12,922,162	I286N	probably damaging	Het
Tead3	C	A	17: 28,333,517	V327F	probably damaging	Het
Tmem132c	A	T	5: 127,563,440	T892S	probably benign	Het
Trmt2a	T	C	16: 18,250,623	S65P	probably benign	Het
Ubp1	A	G	9: 113,973,529	N479S	possibly damaging	Het
Ubtfl1	A	T	9: 18,409,231	L18F	possibly damaging	Het
Uevld	T	G	7: 46,938,056	M299L	probably benign	Het
Unc13b	T	A	4: 43,173,854	Y1561N	unknown	Het
Ylpm1	A	G	12: 85,029,122	K874E	probably damaging	Het
Zbtb37	G	A	1: 161,032,232	R168W	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
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
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'- ACTTGCACACGTTCCATGTC -3'
(R):5'- GAAGACTTGGGTCCTCATGG -3'

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

Posted On

2019-11-12