Mutagenetix > Incidental Mutation

Incidental Mutation 'R7597:Abcc6'

587785

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

045672-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R7597 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45995237 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 838 (L838P)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002850
AA Change: L838P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: L838P

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,471,429	V351A	possibly damaging	Het
Adgrl4	T	A	3: 151,543,258	F728I	probably damaging	Het
Asap1	A	G	15: 64,312,455	V7A	probably benign	Het
B230104I21Rik	A	G	4: 154,349,593		probably benign	Het
C4b	A	T	17: 34,739,675	S562T	probably benign	Het
Carmil2	A	G	8: 105,695,489	Y1130C	probably damaging	Het
Cit	A	T	5: 115,886,681	K328*	probably null	Het
Col18a1	T	C	10: 77,113,303	D125G	unknown	Het
Cxadr	T	C	16: 78,329,108	V122A	probably damaging	Het
Cyp2d22	G	A	15: 82,375,852	P44S	probably damaging	Het
Gabrr1	A	G	4: 33,148,964	T74A	probably benign	Het
Gfm2	C	A	13: 97,172,578	A597E	probably benign	Het
Gm5346	T	G	8: 43,625,244	N648H	probably damaging	Het
H2-T22	T	C	17: 36,040,516	Y274C	probably damaging	Het
Has2	C	A	15: 56,668,421	W299C	probably damaging	Het
Hsd17b6	A	G	10: 127,991,358	S282P	probably benign	Het
Itga1	T	C	13: 114,974,140	I972V	probably benign	Het
Itih5	T	A	2: 10,249,376	Y813N	probably damaging	Het
Kctd16	A	G	18: 40,530,795	T326A	possibly damaging	Het
Klhdc1	T	C	12: 69,269,868	S342P	probably damaging	Het
Kmt2a	T	C	9: 44,831,353	I1682M	unknown	Het
Lamc1	T	C	1: 153,240,454	K994E	possibly damaging	Het
Lig1	T	G	7: 13,296,344	S416A	probably benign	Het
Lims1	A	G	10: 58,412,441	E240G	probably damaging	Het
Lnpk	T	C	2: 74,568,972	M76V	probably benign	Het
Lrrtm4	T	A	6: 80,022,445	L280*	probably null	Het
Mfap3l	A	T	8: 60,671,281	I186F	possibly damaging	Het
Mta3	T	C	17: 83,775,582	F234L	probably benign	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Mybpc2	C	T	7: 44,509,799	G609D	probably damaging	Het
Naga	A	T	15: 82,334,834	D237E	probably benign	Het
Naip6	C	T	13: 100,300,600	A472T	probably benign	Het
Nbn	G	A	4: 15,963,911	S104N	probably damaging	Het
Nipsnap2	T	C	5: 129,739,573	L60P	probably damaging	Het
Olfr1317	T	A	2: 112,142,580	F212I	probably benign	Het
Olfr904	G	A	9: 38,464,506	G155D	probably benign	Het
Pclo	C	T	5: 14,677,587	T2153I	unknown	Het
Pclo	A	C	5: 14,858,855	K5059T	unknown	Het
Pdlim2	C	A	14: 70,166,196	A256S	possibly damaging	Het
Pira2	T	C	7: 3,842,461	D308G	probably damaging	Het
Proc	G	T	18: 32,123,636	A326E	probably damaging	Het
Rab40b	T	C	11: 121,357,883	D182G	probably benign	Het
Rai14	A	G	15: 10,574,851	S703P	possibly damaging	Het
Rdx	C	T	9: 52,060,896	P2L	possibly damaging	Het
Recql5	T	C	11: 115,928,381	K120E	probably benign	Het
Rev3l	C	T	10: 39,822,884	R1126C	probably damaging	Het
Slc2a6	G	T	2: 27,027,183	D70E	possibly damaging	Het
Slc6a17	A	T	3: 107,471,352	D671E	possibly damaging	Het
Slc7a8	G	A	14: 54,781,400		probably benign	Het
Srpk2	A	G	5: 23,548,519	Y79H	possibly damaging	Het
Traf3ip1	T	A	1: 91,511,445	I361K	probably damaging	Het
Trpm8	A	G	1: 88,328,196	Y191C	probably damaging	Het
Ubr3	T	C	2: 69,973,468	V1135A	possibly damaging	Het
Usp12	C	A	5: 146,754,369		probably null	Het
Vmn1r44	C	A	6: 89,893,836	P188Q	probably benign	Het
Xirp2	T	A	2: 67,525,755	V3620D	possibly damaging	Het
Zcchc14	A	T	8: 121,608,500	S294T	unknown	Het
Zfp800	T	C	6: 28,260,765	D5G	probably damaging	Het
Zfp87	C	T	13: 67,517,293	R350Q	probably benign	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
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'- TGGGTATGGTTAAGTACTGCAC -3'
(R):5'- AGCCCACATCTTCTAAATTTGC -3'

Sequencing Primer
(F):5'- GTACTGCACTCACATCAGTGG -3'
(R):5'- TATAGTAGTCTCCAGAAGAAGTGC -3'

Posted On

2019-10-24