Mutagenetix > Incidental Mutation

Incidental Mutation 'R9731:Abcc6'

731391

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?

Probably essential (E-score: 0.874) question?

Stock #

R9731 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 46020236 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 132 (R132*)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably null
Transcript: ENSMUST00000002850
AA Change: R132*

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: R132*

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: 99.5%
20x: 99.0%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522H14Rik	T	G	4: 109,505,721	S134R	probably damaging	Het
A930033H14Rik	T	A	10: 69,212,849	R53W	unknown	Het
Abca9	G	T	11: 110,134,198	D1006E	probably benign	Het
Ankrd40	C	T	11: 94,338,424	T283I	probably damaging	Het
Atr	A	G	9: 95,865,039	K125E	possibly damaging	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cep290	A	T	10: 100,510,542	L527F	probably damaging	Het
Cep295	T	C	9: 15,333,966	N1065D	possibly damaging	Het
Clip2	C	T	5: 134,504,762	R487Q	probably benign	Het
Ddx54	C	T	5: 120,620,742	A350V	probably benign	Het
Defb23	C	T	2: 152,459,413	V80I	probably benign	Het
Dennd5b	G	A	6: 149,068,640	T127I	probably damaging	Het
Dnah6	G	T	6: 73,191,606	Q445K	probably benign	Het
Dync2h1	T	C	9: 7,141,166	H1287R	probably benign	Het
Enpp7	G	A	11: 118,988,325	G37R	probably damaging	Het
Exoc2	T	C	13: 30,877,250	T554A	probably benign	Het
Fgf8	T	C	19: 45,742,407	N60D	probably benign	Het
Gdi2	A	G	13: 3,538,299	M1V	probably null	Het
Glra3	G	T	8: 56,089,023	R267L	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,089,825		probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817		probably benign	Het
Greb1	C	T	12: 16,688,597	R1455H	probably damaging	Het
Grk6	C	A	13: 55,459,827	P575T	possibly damaging	Het
Hpgd	A	T	8: 56,298,356	D73V	probably benign	Het
Hpse	G	A	5: 100,694,156	H288Y	probably damaging	Het
Hpse2	G	A	19: 42,806,387	R506*	probably null	Het
Ing1	C	A	8: 11,561,649	T123N	probably benign	Het
Kdm2b	T	C	5: 122,987,760	D27G	probably benign	Het
Kmt2c	A	T	5: 25,372,958	D773E	probably benign	Het
Lrrc7	T	C	3: 158,175,251	D516G	probably benign	Het
Lrsam1	A	G	2: 32,945,440		probably null	Het
Mcm5	C	T	8: 75,117,540	S313F	probably benign	Het
Ndufaf3	T	C	9: 108,565,959	*186W	probably null	Het
Ndufaf5	C	T	2: 140,170,887	A59V	possibly damaging	Het
Nphp3	T	C	9: 104,009,170	L281S	probably damaging	Het
Olfr1259	T	A	2: 89,943,972	I48F	possibly damaging	Het
Olfr17	T	G	7: 107,097,579	V38G	probably benign	Het
Olfr884	A	T	9: 38,047,596	I125F	probably damaging	Het
Otogl	G	T	10: 107,899,467	T152K	probably damaging	Het
Oxgr1	C	T	14: 120,022,682	V38I	probably benign	Het
Polr2a	G	A	11: 69,747,217	T142M	possibly damaging	Het
Pou6f1	C	T	15: 100,578,325	R560Q	possibly damaging	Het
Rbm33	A	G	5: 28,339,244	E166G	probably damaging	Het
Rgs14	T	A	13: 55,380,971	Y308*	probably null	Het
Rpl10a	T	C	17: 28,328,620		probably benign	Het
Rras2	A	C	7: 114,060,358	I57S	probably damaging	Het
Scn1b	C	T	7: 31,125,171	V31M	probably damaging	Het
Sema6d	G	A	2: 124,664,197	A642T	probably damaging	Het
Sis	T	A	3: 72,928,210	T940S	probably benign	Het
Slc14a1	C	A	18: 78,109,592	A367S	probably damaging	Het
Slc22a27	G	A	19: 7,926,761	Q4*	probably null	Het
Slc44a2	T	A	9: 21,352,474	I646N	possibly damaging	Het
Sprtn	C	A	8: 124,902,965	Y332*	probably null	Het
Srpk1	A	G	17: 28,606,323	I125T	probably damaging	Het
Sv2b	G	A	7: 75,136,320	H451Y	probably benign	Het
Tec	G	A	5: 72,782,096	T192M	probably benign	Het
Tldc1	C	A	8: 119,771,271	A165S	probably benign	Het
Tlr3	G	A	8: 45,397,907	T127M	probably damaging	Het
Trim25	C	A	11: 89,015,565	P405T	probably benign	Het
Trpm4	T	C	7: 45,308,630	D952G	probably damaging	Het
Tsc1	A	G	2: 28,676,474	D635G	probably benign	Het
Ttc7b	T	C	12: 100,495,424	E98G	possibly damaging	Het
Ubr2	A	G	17: 46,963,145		probably null	Het
Usp19	T	A	9: 108,499,686	S1153T	probably damaging	Het
Vmn2r63	A	T	7: 42,903,937	L632M	probably benign	Het
Vps13c	C	T	9: 67,919,244	T1389I	probably benign	Het
Wasf1	T	A	10: 40,930,735	Y125N	probably damaging	Het
Zadh2	T	G	18: 84,095,003	V268G	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
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
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'- CAAAGTATGTGGGATTGGCG -3'
(R):5'- AGCCTGGCTTGCTCCAATAG -3'

Sequencing Primer
(F):5'- TACTGATGGGGGAGGGC -3'
(R):5'- CAATAGCTGCTTTCCTGTAGC -3'

Posted On

2022-11-14