Mutagenetix > Incidental Mutation

Incidental Mutation 'R8098:Abcc6'

630309

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: 0.739) question?

Stock #

R8098 (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 45996665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 800 (L800P)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably damaging
Transcript: ENSMUST00000002850
AA Change: L800P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: L800P

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: 99.9%
3x: 99.8%
10x: 99.3%
20x: 98.4%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011I03Rik	A	T	18: 57,667,331	I185L	probably benign	Het
3425401B19Rik	A	G	14: 32,662,661	L449P	probably damaging	Het
4931440F15Rik	A	G	11: 29,824,450	S336P	possibly damaging	Het
Abca15	A	G	7: 120,361,396	S694G	probably benign	Het
Adam15	T	A	3: 89,343,886	D504V	probably damaging	Het
Adnp	T	C	2: 168,182,532	T948A	probably benign	Het
Akap11	T	C	14: 78,512,922	D675G		Het
Atp13a3	A	C	16: 30,354,297	V254G	possibly damaging	Het
Atp1a1	A	G	3: 101,582,049	I749T	probably damaging	Het
B3glct	T	A	5: 149,750,500	Y369*	probably null	Het
Bms1	C	T	6: 118,384,258	R1204H	probably damaging	Het
Btla	T	A	16: 45,244,249	L188*	probably null	Het
Btn2a2	A	G	13: 23,481,888	V258A	probably benign	Het
C1ra	G	A	6: 124,517,725	E316K	probably benign	Het
Cacna1g	T	C	11: 94,416,512	H1782R	probably benign	Het
Calcoco1	T	C	15: 102,716,324	D172G	probably benign	Het
Ciart	G	A	3: 95,881,344	P61L	probably damaging	Het
Ckap4	A	G	10: 84,533,635	S78P	probably damaging	Het
Col6a3	A	T	1: 90,803,661	D1623E	probably benign	Het
Col7a1	A	G	9: 108,956,695	T411A	unknown	Het
Cpt1a	A	C	19: 3,370,849	I436L	probably benign	Het
Cyp2c23	T	A	19: 44,015,803	I173F	probably benign	Het
Dcun1d2	T	C	8: 13,261,396	T198A	probably benign	Het
Ddx50	A	C	10: 62,625,143		probably null	Het
Depdc1b	A	G	13: 108,324,059	T68A	probably damaging	Het
Dgkq	G	A	5: 108,652,468	R546W	probably damaging	Het
Dmbt1	G	A	7: 131,108,459	W1493*	probably null	Het
Dnah17	A	G	11: 118,050,367	S3219P	probably damaging	Het
E430018J23Rik	C	T	7: 127,393,324	C38Y	probably null	Het
Egf	T	A	3: 129,690,837	Y986F	probably benign	Het
Ell3	TCTCCTC	TCTC	2: 121,439,456		probably benign	Het
Ep400	A	T	5: 110,693,251	M1805K	unknown	Het
Exoc3	A	G	13: 74,172,152	M730T	probably benign	Het
Fbxl13	T	A	5: 21,620,718	M129L	probably benign	Het
Gins4	T	A	8: 23,237,021	M19L	probably benign	Het
Gm3238	T	C	10: 77,770,640	N229S	unknown	Het
Gpd2	T	A	2: 57,290,008	V89D	possibly damaging	Het
Hectd4	G	A	5: 121,321,398	V777I	possibly damaging	Het
Hgf	T	A	5: 16,561,061	V65E	probably benign	Het
Hnrnpdl	A	G	5: 100,037,920	S169P	probably benign	Het
Igfbp3	T	C	11: 7,210,104	D183G	possibly damaging	Het
Il16	A	G	7: 83,646,559	V1134A	probably damaging	Het
Kcnn4	A	G	7: 24,384,079	D395G	probably damaging	Het
Kctd17	CAGCTGGAGGAGC	CAGC	15: 78,436,913		probably benign	Het
Kif13a	T	C	13: 46,815,304	N354S	probably damaging	Het
Lrp1	C	T	10: 127,574,455	R1474Q	possibly damaging	Het
Map3k9	T	C	12: 81,734,114	Q424R	probably damaging	Het
Mkx	A	C	18: 6,992,784	S167A	possibly damaging	Het
Ms4a14	A	G	19: 11,304,615	F193S	possibly damaging	Het
Myo18a	A	T	11: 77,845,401	D1508V	probably damaging	Het
Nek4	T	A	14: 30,963,951	N273K	probably benign	Het
Nipal3	A	T	4: 135,452,398	V403D	possibly damaging	Het
Nlrp6	G	A	7: 140,923,255	V425M	probably damaging	Het
Olfr1228	T	A	2: 89,249,308	M117L	possibly damaging	Het
Olfr127	A	G	17: 37,904,359	D271G	probably damaging	Het
Olfr1342	A	T	4: 118,690,209	V81E	possibly damaging	Het
Olfr825	T	C	10: 130,163,047	K93R	probably benign	Het
Otub1	A	T	19: 7,204,429	D27E	probably damaging	Het
Pcnx2	T	C	8: 125,768,301	D1607G	probably damaging	Het
Pde2a	A	G	7: 101,421,971	Y16C	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Prph2	A	T	17: 46,919,966	M262L	probably benign	Het
Pxdn	C	T	12: 30,006,602	L1271F	probably damaging	Het
Rnf10	A	C	5: 115,251,379	I243S	probably damaging	Het
Samd9l	T	C	6: 3,375,549	I571V	probably damaging	Het
Scube1	C	T	15: 83,659,088	G183D	probably damaging	Het
Sidt2	A	G	9: 45,945,730	V426A	probably benign	Het
Slc20a1	T	C	2: 129,209,121	L566P	probably damaging	Het
Slc22a3	A	G	17: 12,423,732		probably null	Het
Snx11	G	T	11: 96,770,674	S168R	probably benign	Het
Snx5	T	C	2: 144,255,562	N218D	probably benign	Het
Snx7	A	T	3: 117,838,934	D169E	probably benign	Het
Soat1	A	G	1: 156,446,610	L77P	probably damaging	Het
Sucnr1	T	A	3: 60,086,741	V230E	probably damaging	Het
Supv3l1	T	C	10: 62,429,503	K753E	probably benign	Het
Tango6	T	G	8: 106,742,358	L829V	possibly damaging	Het
Tek	T	C	4: 94,827,670	V443A	probably benign	Het
Tet1	A	T	10: 62,879,080	L312Q	probably damaging	Het
Tgm1	A	T	14: 55,710,534	N269K	probably damaging	Het
Thrb	A	T	14: 18,008,645	D168V	probably damaging	Het
Tk2	C	T	8: 104,231,172	V181I	probably benign	Het
Tm6sf2	T	C	8: 70,074,322	L47P	probably damaging	Het
Tmcc3	T	A	10: 94,579,216	M291K	probably benign	Het
Tnfrsf21	A	G	17: 43,039,899	E318G	probably benign	Het
Ttc7	T	C	17: 87,334,328	V451A	probably benign	Het
Ugt2b36	A	T	5: 87,092,393	D44E	probably benign	Het
Usp17la	G	T	7: 104,860,931	V248L	probably damaging	Het
Utp20	A	C	10: 88,752,948	I2453S	probably benign	Het
Wdr91	A	T	6: 34,886,882	I566N	possibly damaging	Het
Zfp282	A	G	6: 47,890,718	D276G	probably benign	Het
Zfp866	T	C	8: 69,765,978	K331E	probably benign	Het
Zkscan17	A	T	11: 59,503,584	W64R	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
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
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'- AGTTTAACTACACATTTCCTGAGAAA -3'
(R):5'- GTCATTCTGATGTCCCCAGC -3'

Sequencing Primer
(F):5'- TCCTGAGAAAAATATAAGTGCAAGCC -3'
(R):5'- TGATGTCCCCAGCAGATGTG -3'

Posted On

2020-06-30