Mutagenetix > Incidental Mutation

Incidental Mutation 'R9127:Abcc6'

693324

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

068926-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R9127 (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 45979760 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 1354 (N1354S)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002850
AA Change: N1354S

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

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: N1354S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (82/82)

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1190007I07Rik	A	T	10: 82,622,754	M21K	probably benign	Het
1700014D04Rik	A	G	13: 59,743,014	S331P	probably benign	Het
1700029J07Rik	T	G	8: 45,962,366	D201A	probably benign	Het
Abca13	T	G	11: 9,292,080	D1314E	probably benign	Het
Abcb1a	A	T	5: 8,674,707	R47W	probably benign	Het
Abracl	T	C	10: 18,011,696	Y61C	probably damaging	Het
Adamtsl1	A	G	4: 86,289,790	T633A	probably benign	Het
Agap3	G	A	5: 24,476,441		probably benign	Het
Ago4	A	T	4: 126,507,111	M647K	probably damaging	Het
Akap7	G	T	10: 25,279,778	S72R	unknown	Het
Arhgef12	A	G	9: 42,974,574	L1251S	possibly damaging	Het
Astn2	A	T	4: 66,403,927	V145E	unknown	Het
Atxn2l	A	T	7: 126,498,221	S304R	probably damaging	Het
Cd226	A	T	18: 89,269,031	I318F	probably damaging	Het
Cep250	C	T	2: 155,970,122	A446V	unknown	Het
Cfap65	A	T	1: 74,919,351		probably benign	Het
Chtf8	A	G	8: 106,887,008	V18A	probably benign	Het
Cit	G	T	5: 115,936,837	E683*	probably null	Het
Ckmt2	T	C	13: 91,859,218	R286G	probably damaging	Het
Clec4a2	T	A	6: 123,139,259	W128R	probably damaging	Het
Clec4n	T	G	6: 123,235,488	S88A	probably damaging	Het
Cndp2	G	A	18: 84,680,996	A48V	probably benign	Het
Csmd1	T	C	8: 16,223,272	T849A	probably benign	Het
Cts3	A	T	13: 61,567,421	Y199*	probably null	Het
Dag1	A	T	9: 108,208,535	L469*	probably null	Het
Dclre1c	T	C	2: 3,438,088	V225A		Het
Dedd	A	G	1: 171,338,841	D115G	probably damaging	Het
E330014E10Rik	A	G	5: 95,803,764	Y470C	probably damaging	Het
Eif2ak3	T	A	6: 70,883,720	W427R	probably damaging	Het
Fbln2	T	A	6: 91,233,491	V139D	probably damaging	Het
Fbn1	A	T	2: 125,382,065	M588K	possibly damaging	Het
Gm11639	T	A	11: 104,850,581	V2166D	probably benign	Het
Gm17019	A	T	5: 15,031,099	Y109*	probably null	Het
Gm32742	T	A	9: 51,144,715	N1255Y	probably damaging	Het
Gm5431	T	A	11: 48,888,773	K441*	probably null	Het
Golga2	A	G	2: 32,306,067	D898G		Het
Gramd4	G	A	15: 86,091,324	R39H	probably benign	Het
Gucy1a2	A	G	9: 3,634,553	N199S	probably damaging	Het
Heyl	G	A	4: 123,246,092	R148H	probably damaging	Het
Ifi208	A	T	1: 173,695,834	M557L	probably benign	Het
Igf2r	A	G	17: 12,739,351	V145A	probably damaging	Het
Ighv1-4	A	T	12: 114,487,259	Y76*	probably null	Het
Ikzf4	T	C	10: 128,632,618	D664G	unknown	Het
Il1a	T	A	2: 129,304,795	Y126F	possibly damaging	Het
Lmf2	C	A	15: 89,355,568		probably benign	Het
Lyst	T	C	13: 13,634,242	S166P	probably damaging	Het
Mgat5	A	C	1: 127,366,460	T180P	probably benign	Het
Mical2	A	C	7: 112,271,382	K26T	possibly damaging	Het
Mov10	G	T	3: 104,804,343	Y209*	probably null	Het
Nol8	T	C	13: 49,661,999	Y528H	probably benign	Het
Numa1	T	A	7: 101,992,662	S106T	possibly damaging	Het
Olfr1232	G	A	2: 89,326,130	Q17*	probably null	Het
Olfr1461	A	G	19: 13,165,032	N6S	probably damaging	Het
Olfr396-ps1	A	T	11: 73,928,341	E39V	probably damaging	Het
Olfr845	A	G	9: 19,338,730	H90R	probably benign	Het
Pcdhb14	A	G	18: 37,449,038	N399S	probably damaging	Het
Plcl2	T	A	17: 50,611,004	S944T	probably benign	Het
Pml	A	T	9: 58,220,377	I695N	probably benign	Het
Ppard	G	T	17: 28,286,375	R12L	unknown	Het
Ppip5k1	C	T	2: 121,327,644		probably null	Het
Ppp1r3g	T	C	13: 35,968,638	S14P	probably benign	Het
Prrc2b	C	A	2: 32,213,752	R1081S	probably damaging	Het
Rasgrp2	A	T	19: 6,404,408	E160D	possibly damaging	Het
Rb1cc1	G	A	1: 6,262,849	V1331I	probably damaging	Het
Rnd3	A	T	2: 51,132,401	S210T	probably benign	Het
Scaf11	T	C	15: 96,414,883	T1426A	probably benign	Het
Sin3b	C	T	8: 72,733,406	T207I	possibly damaging	Het
Slc26a7	A	T	4: 14,593,873	Y81N	probably damaging	Het
Slc28a3	C	T	13: 58,576,767	M224I	probably benign	Het
Slc30a1	T	C	1: 191,907,230	I75T	probably damaging	Het
Slc6a21	T	A	7: 45,280,250		probably benign	Het
Slco2a1	T	A	9: 103,068,044	L206Q	probably damaging	Het
Sptbn1	A	G	11: 30,154,356	V116A	probably damaging	Het
Syngap1	G	A	17: 26,962,121	D1008N	probably damaging	Het
Syt11	T	C	3: 88,762,336	D83G	probably benign	Het
Syt14	G	A	1: 192,901,823	T428I	probably damaging	Het
Taf15	T	A	11: 83,504,259	Y338*	probably null	Het
Tfap4	A	T	16: 4,547,319	M253K	possibly damaging	Het
Tnr	T	C	1: 159,886,110	S703P	possibly damaging	Het
Trrap	G	A	5: 144,831,020	D2577N	probably benign	Het
Wdr20	C	T	12: 110,793,163	S161L	possibly damaging	Het
Zfp503	C	A	14: 21,987,350	V62L	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
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
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'- AGTCTAGGCTAGGTTTCGCC -3'
(R):5'- ATCGATGGGGTCCCTATCAC -3'

Sequencing Primer
(F):5'- TTTCGCCATGGGAAAAAGATC -3'
(R):5'- GGTCCCTATCACCCATGTGG -3'

Posted On

2022-01-20