Mutagenetix > Incidental Mutation

Incidental Mutation 'R7067:Abcc6'

548631

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 #

R7067 (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 46018690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 165 (N165D)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably benign
Transcript: ENSMUST00000002850
AA Change: N165D

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: N165D

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: 99.1%

Validation Efficiency

98% (62/63)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 91,056,033	S72C	probably damaging	Het
9330182L06Rik	G	T	5: 9,266,295	A9S	possibly damaging	Het
Abca13	A	G	11: 9,291,845	D1236G	probably benign	Het
Aebp1	A	G	11: 5,866,431		probably null	Het
Anapc4	A	G	5: 52,862,235	T580A	probably benign	Het
Apob	T	C	12: 8,009,423	I2602T	probably damaging	Het
Arap2	A	G	5: 62,654,044		probably null	Het
Asap3	T	A	4: 136,241,362		probably null	Het
Bend4	A	G	5: 67,400,268	Y402H	probably damaging	Het
Crtc2	A	G	3: 90,260,182	N271S	probably benign	Het
Csf2rb2	A	T	15: 78,292,494	W233R	probably damaging	Het
Ctgf	A	G	10: 24,596,975	Y261C	probably benign	Het
Cyp2u1	G	A	3: 131,293,553	L460F	probably damaging	Het
Dnm3	A	G	1: 162,320,971	L277P	probably damaging	Het
Efemp1	A	T	11: 28,867,926	N135I	probably damaging	Het
Fsip2	T	A	2: 82,980,734	S2466T	possibly damaging	Het
Gal3st2	C	T	1: 93,874,725	A276V	possibly damaging	Het
Gm47985	A	T	1: 151,183,490	D294V	unknown	Het
Golga1	A	T	2: 39,047,719	D104E	probably benign	Het
Hnrnpr	C	T	4: 136,327,393	A219V	probably damaging	Het
Hsd3b7	T	C	7: 127,800,716		probably null	Het
Hspa8	T	C	9: 40,804,625	I562T	probably damaging	Het
Htra4	C	T	8: 25,033,701	V283M	probably damaging	Het
Il1f5	C	T	2: 24,277,529	R11*	probably null	Het
Iqcd	A	G	5: 120,605,147	T325A	probably damaging	Het
Kif23	A	T	9: 61,924,989	M624K	probably benign	Het
Krt25	G	T	11: 99,317,383	Q340K	probably benign	Het
Lamp3	T	A	16: 19,699,663	N275Y	probably damaging	Het
Lpin2	A	C	17: 71,244,858	K789T	possibly damaging	Het
Mroh2b	T	C	15: 4,900,504	I24T	probably benign	Het
Muc16	T	A	9: 18,658,251	I991F	unknown	Het
Ntf5	T	A	7: 45,415,624	L60Q	probably damaging	Het
Nuak1	A	G	10: 84,440,294	S22P	possibly damaging	Het
Obox8	T	C	7: 14,333,054	T22A	possibly damaging	Het
Olfr1053	T	A	2: 86,314,567	T240S	probably damaging	Het
Pde8a	T	C	7: 81,317,326	V405A	probably benign	Het
Phc2	T	C	4: 128,747,141	S147P	probably benign	Het
Pole	G	T	5: 110,334,218	G142V	probably damaging	Het
Poli	G	A	18: 70,509,417	Q508*	probably null	Het
Repin1	T	A	6: 48,597,916	L537*	probably null	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Samd7	G	C	3: 30,751,123	K18N	probably benign	Het
Slc30a2	T	A	4: 134,344,218		probably null	Het
Slit3	A	G	11: 35,508,230	S141G	probably benign	Het
Spata5	C	T	3: 37,431,698	Q190*	probably null	Het
Spon2	A	G	5: 33,214,614	S283P	probably damaging	Het
Srgap3	A	T	6: 112,757,305		probably benign	Het
Syde2	A	G	3: 145,988,264	D89G	probably benign	Het
Syne1	A	G	10: 5,234,586	I4099T	probably damaging	Het
Syt5	T	C	7: 4,543,076	D105G	probably benign	Het
Tlx3	C	T	11: 33,203,204	G86S	probably damaging	Het
Trim24	A	T	6: 37,957,840		probably null	Het
Umodl1	G	A	17: 30,982,272	V392I	probably damaging	Het
Unc80	C	A	1: 66,646,572	T2285K	possibly damaging	Het
Vars	G	A	17: 35,011,479	V513I	probably damaging	Het
Vmn1r87	T	A	7: 13,131,922	Q146L	probably benign	Het
Vmn2r62	T	C	7: 42,764,878	I714V	probably benign	Het
Xbp1	T	A	11: 5,524,275	S159T	probably damaging	Het
Xrn1	T	A	9: 95,969,512	H194Q	probably damaging	Het
Zc3h4	A	T	7: 16,429,051	K459*	probably null	Het
Zdhhc6	G	A	19: 55,304,439	R292*	probably null	Het
Zfp383	T	A	7: 29,908,646	M1K	probably null	Het
Zfp703	A	G	8: 26,979,016	D236G	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
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
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'- CACTTGTGCTCTAGGCCAAC -3'
(R):5'- GTAACATGCCATGAGCCAGG -3'

Sequencing Primer
(F):5'- GTGCTCTAGGCCAACACACATTG -3'
(R):5'- CATGCCATGAGCCAGGATGAC -3'

Posted On

2019-05-13