Mutagenetix > Incidental Mutation

Incidental Mutation 'R7896:Abcc6'

609680

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?

Possibly essential (E-score: 0.672) question?

Stock #

R7896 (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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (82/83)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 80,004,958	T894A	probably damaging	Het
Abcc10	T	A	17: 46,324,309	H256L	probably benign	Het
Actn2	G	A	13: 12,294,317	A290V	possibly damaging	Het
Actrt2	A	T	4: 154,667,195	D161E	probably benign	Het
Adam19	T	A	11: 46,137,543	C668S	probably damaging	Het
Alg8	T	C	7: 97,390,916	L435S	probably damaging	Het
Amz2	G	A	11: 109,436,587	E322K	possibly damaging	Het
Ankrd12	T	A	17: 65,985,685	R918*	probably null	Het
Atp5f1	A	G	3: 105,955,943	I59T	probably damaging	Het
Bach1	T	A	16: 87,719,005	C145S	possibly damaging	Het
Bcl6b	G	T	11: 70,227,022	S309*	probably null	Het
Birc6	G	T	17: 74,622,082	R2323L	probably damaging	Het
Catspere2	A	T	1: 178,111,174	M538L	probably benign	Het
Ccdc154	A	T	17: 25,171,826	M647L	probably benign	Het
Cdc14a	T	C	3: 116,294,833	T447A	probably benign	Het
Chst9	C	T	18: 15,452,789	R239H	probably damaging	Het
Cs	C	T	10: 128,353,135	A171V	probably damaging	Het
D3Ertd751e	T	A	3: 41,756,073	F107I	probably benign	Het
D430041D05Rik	T	C	2: 104,258,040	D197G	probably benign	Het
Dcdc2c	G	A	12: 28,470,620	Q486*	probably null	Het
Dolk	A	T	2: 30,285,949	V28E	possibly damaging	Het
Dpf2	C	T	19: 5,904,305	S191N	probably benign	Het
Eml3	T	A	19: 8,933,807	F267I	possibly damaging	Het
Fam184a	C	A	10: 53,633,706	E126*	probably null	Het
Fam189a1	T	C	7: 64,776,809	H232R	probably damaging	Het
Foxo3	T	C	10: 42,197,736	S262G	possibly damaging	Het
Gm1527	T	G	3: 28,921,593		probably null	Het
Gm49380	G	A	9: 44,112,799	L51F	probably damaging	Het
Gm9195	A	T	14: 72,455,738	H1582Q	unknown	Het
Gm9573	G	A	17: 35,620,025	P1090S	unknown	Het
Grip1	A	G	10: 119,978,545	Q327R	possibly damaging	Het
Gstt1	A	G	10: 75,784,142	F207S	probably damaging	Het
Itsn1	G	A	16: 91,818,558	R397H	unknown	Het
Kif16b	A	G	2: 142,834,075		probably null	Het
Kif5a	A	G	10: 127,242,004	V407A	probably benign	Het
Lrrc57	C	A	2: 120,607,891	D134Y	probably damaging	Het
Map1a	A	G	2: 121,305,176	T2158A	probably benign	Het
Mink1	A	G	11: 70,612,282	N1068S	possibly damaging	Het
Mmp8	A	T	9: 7,564,977	I295F	probably damaging	Het
Mup18	G	T	4: 61,672,688		probably null	Het
Myo1h	G	T	5: 114,336,311		probably null	Het
Nap1l5	C	T	6: 58,906,520	G52S	probably damaging	Het
Npr3	A	G	15: 11,883,362	F327S	probably damaging	Het
Nrxn2	C	A	19: 6,532,053	Q1673K	possibly damaging	Het
Olfr457	T	A	6: 42,472,166	D4V	probably benign	Het
Olfr53	G	T	7: 140,652,901	L307F	probably benign	Het
Paf1	T	C	7: 28,396,647	Y260H	probably damaging	Het
Pcmtd2	T	C	2: 181,854,983	I251T	probably damaging	Het
Pde9a	C	T	17: 31,459,967	Q261*	probably null	Het
Ppip5k1	T	C	2: 121,347,330	D332G	probably damaging	Het
Ppl	C	T	16: 5,088,861	R1190H	probably damaging	Het
Ppp1r36	A	G	12: 76,428,149		probably null	Het
Pprc1	T	C	19: 46,061,449	L67P	unknown	Het
Prkdc	T	G	16: 15,708,903	L1346R	probably damaging	Het
Prl7c1	A	T	13: 27,778,087	M79K	possibly damaging	Het
Ptprb	C	T	10: 116,369,457		probably null	Het
R3hdm1	T	A	1: 128,168,966		probably null	Het
Ralgapa1	A	G	12: 55,697,878	V1276A	probably benign	Het
Rapsn	T	C	2: 91,044,955	L361P	probably benign	Het
Rbm22	G	T	18: 60,569,433	A275S	probably benign	Het
Rsph3a	A	G	17: 7,946,108	Y100C	probably damaging	Het
Rsrp1	A	T	4: 134,923,963	M13L	unknown	Het
Rtn4	T	G	11: 29,705,536	D169E	probably damaging	Het
Setd7	C	A	3: 51,536,656		probably null	Het
Slc38a2	A	G	15: 96,693,585	I206T	probably damaging	Het
Slc9a8	T	C	2: 167,465,358	F321L	probably benign	Het
Sppl2c	A	G	11: 104,187,130	D252G	possibly damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,853,553		probably benign	Het
Syne2	A	G	12: 76,035,623	T117A	probably damaging	Het
Szt2	A	T	4: 118,402,913	F79I	possibly damaging	Het
Tlr3	T	A	8: 45,397,053	K860*	probably null	Het
Ttn	T	C	2: 76,794,674	S15187G	probably benign	Het
Ubr5	A	G	15: 38,041,573	V204A	probably benign	Het
Unc5c	A	T	3: 141,771,161	T363S	possibly damaging	Het
Usp40	G	A	1: 87,978,479	T678I	possibly damaging	Het
Vmn1r62	A	T	7: 5,675,610	T97S	probably damaging	Het
Vmn1r85	T	A	7: 13,084,521	H232L	probably benign	Het
Vmn2r67	A	G	7: 85,136,712	I695T	probably damaging	Het
Zfp383	C	A	7: 29,912,201	D35E	probably damaging	Het
Zfp65	A	T	13: 67,729,055		probably null	Het
Zfp692	A	G	11: 58,314,236	K437R	probably damaging	Het
Zfp831	A	T	2: 174,647,128	T1199S	possibly damaging	Het
Zfr	T	A	15: 12,146,377	I338N	probably 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
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
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'- AGGACACTTGCACACGTTC -3'
(R):5'- AGACTTGGGTCCTCATGGTG -3'

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

Posted On

2019-12-20