Mutagenetix > Incidental Mutation

Incidental Mutation 'R8807:Abcc6'

672135

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

068643-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.841) question?

Stock #

R8807 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45999007 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 687 (I687N)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000002850
AA Change: I687N

PolyPhen 2 Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: I687N

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

Meta Mutation Damage Score

0.3280

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (74/75)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,244,778	I644F	probably damaging	Het
5730480H06Rik	T	C	5: 48,377,152	I118T	probably damaging	Het
Abca8a	A	T	11: 110,083,426	F227L	probably benign	Het
Akain1	T	C	17: 69,487,345	*70Q	probably null	Het
Allc	C	T	12: 28,565,490	G89S	probably damaging	Het
Artn	A	T	4: 117,926,718	S184T	possibly damaging	Het
Bcl2a1c	A	T	9: 114,330,180	I9F	probably damaging	Het
Cacna2d1	T	A	5: 16,267,454	D286E	probably damaging	Het
Cdc25a	G	A	9: 109,879,235	E98K	probably benign	Het
Cdr2l	A	T	11: 115,393,915	Q359L	probably damaging	Het
Cmip	C	T	8: 117,411,355	T103M	probably benign	Het
Dcaf1	A	G	9: 106,865,069	T1358A	probably benign	Het
Dedd2	C	T	7: 25,211,280	R157Q	probably benign	Het
Dhrs1	A	G	14: 55,745,042	V9A	probably damaging	Het
Dopey2	T	A	16: 93,762,085	V573E	probably benign	Het
Eef2k	A	T	7: 120,891,707	I517F	possibly damaging	Het
En1	T	C	1: 120,603,361	F110S	possibly damaging	Het
Evpl	T	A	11: 116,221,027	I1946F	probably damaging	Het
Gaa	A	T	11: 119,277,567	M502L	probably benign	Het
Gfer	C	T	17: 24,695,872	A66T	possibly damaging	Het
Gm13271	A	G	4: 88,754,976	T37A	probably benign	Het
Gm34653	A	T	2: 34,838,806	I206F	probably damaging	Het
Grm3	C	T	5: 9,511,499	A784T	probably damaging	Het
Helz	C	G	11: 107,603,009	S277C	probably damaging	Het
Henmt1	T	G	3: 108,960,336	*396G	probably null	Het
Hfe	C	T	13: 23,705,684	V327I	probably benign	Het
Hist1h3g	A	G	13: 23,535,458	K5E	probably benign	Het
Hoxd8	A	T	2: 74,705,969	Q141L	probably damaging	Het
Hspa12b	T	G	2: 131,145,183	S675A	probably benign	Het
Ifi214	G	A	1: 173,526,567	T179I	possibly damaging	Het
Ighv5-9	T	A	12: 113,661,784	Y113F	possibly damaging	Het
Lca5l	T	A	16: 96,178,608	R112S	probably benign	Het
Lmbrd1	C	T	1: 24,731,762	P257S	probably benign	Het
Loxhd1	C	T	18: 77,356,772	T608I	possibly damaging	Het
Lpl	C	A	8: 68,892,628	L95I	probably damaging	Het
Lrp2bp	A	T	8: 46,020,695	Q196L	probably damaging	Het
Ly6h	A	G	15: 75,566,207	Y19H	probably benign	Het
Mfsd6	T	C	1: 52,658,547		probably benign	Het
Mpo	T	C	11: 87,796,339	I237T	probably benign	Het
Mrpl41	A	G	2: 24,974,866	W6R	unknown	Het
Muc16	T	A	9: 18,656,057	H1722L	unknown	Het
Mug1	A	C	6: 121,874,475	D777A	probably benign	Het
Myh1	A	T	11: 67,220,528	I1598F	probably benign	Het
Myo1f	C	T	17: 33,575,905	R40C	probably damaging	Het
Myo6	G	A	9: 80,300,667		probably null	Het
Nbeal2	G	T	9: 110,629,639	N2071K	probably damaging	Het
Nectin4	T	A	1: 171,383,714	C269S	probably damaging	Het
Nhlrc1	A	T	13: 47,014,514	L89Q	probably damaging	Het
Nup205	T	C	6: 35,183,969	F103S	probably damaging	Het
Obscn	C	A	11: 59,079,644	V2379F	probably damaging	Het
Olfr1031	A	T	2: 85,992,828	*337L	probably null	Het
Olfr486	A	T	7: 108,172,645	I33N	possibly damaging	Het
Plppr2	TCGCC	TC	9: 21,944,431		probably benign	Het
Ptbp3	A	G	4: 59,517,584	V101A	probably benign	Het
Rps6kb2	C	T	19: 4,163,230	D6N	probably damaging	Het
Rsph1	T	A	17: 31,265,854	H154L	probably damaging	Het
Sdk1	G	A	5: 142,085,627	V1191M	probably damaging	Het
Selenos	T	A	7: 66,079,719	D2E	probably benign	Het
Sema5a	G	A	15: 32,562,722	G293D	possibly damaging	Het
Sgcg	A	G	14: 61,232,481	S144P	probably damaging	Het
Sh3d19	T	C	3: 86,085,352	V229A	probably benign	Het
Sin3b	C	T	8: 72,750,080	A714V	probably benign	Het
Slitrk6	T	A	14: 110,750,691	Q528L	possibly damaging	Het
Sprr2b	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC	3: 92,317,519		probably benign	Het
Stard9	T	A	2: 120,705,451	L4063H	probably damaging	Het
Stard9	A	C	2: 120,705,462	K4067Q	probably damaging	Het
Svs1	T	C	6: 48,988,254	F399L	probably benign	Het
Terb1	A	G	8: 104,469,109		probably null	Het
Tex2	T	A	11: 106,544,368	H744L	unknown	Het
Tex2	T	C	11: 106,567,588	S339G	unknown	Het
Tmem135	G	C	7: 89,147,978	L357V	probably benign	Het
Trhr	A	T	15: 44,197,816	N244I	probably benign	Het
Ttn	G	A	2: 76,752,065	A22828V	probably damaging	Het
Uchl1	C	T	5: 66,676,258		probably benign	Het
Uroc1	A	T	6: 90,351,128	I529F	probably damaging	Het
Vps13c	G	T	9: 67,858,840	V80F	probably damaging	Het
Wnt1	T	A	15: 98,792,764	C325S	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
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
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'- AACCCTGAAACACTTCTTACTGTTG -3'
(R):5'- AAGGTCTGAGTAGCCGGATG -3'

Sequencing Primer
(F):5'- GAAACACTTCTTACTGTTGGTAGTTC -3'
(R):5'- GGAATTGCCTGCTTCTGTACACAC -3'

Posted On

2021-04-30