Mutagenetix > Incidental Mutation

Incidental Mutation 'R3983:Abcc6'

350684

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

040944-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.874) question?

Stock #

R3983 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45967555-46030302 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45995289 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 821 (I821V)

Ref Sequence

ENSEMBL: ENSMUSP00000002850 (fasta)

Gene Model

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

AlphaFold

Q9R1S7

Predicted Effect

probably benign
Transcript: ENSMUST00000002850
AA Change: I821V

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

SMART Domains

Protein: ENSMUSP00000002850
Gene: ENSMUSG00000030834
AA Change: I821V

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

noncoding transcript
Transcript: ENSMUST00000211780

Meta Mutation Damage Score

0.2153

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (65/65)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	T	A	11: 23,517,220	N138Y	possibly damaging	Het
4921504E06Rik	A	G	2: 19,542,369		probably null	Het
Adam34	G	A	8: 43,650,769	T613I	probably benign	Het
AF067061	G	T	13: 120,264,279	A160S	possibly damaging	Het
Ap2b1	C	T	11: 83,390,716	T816M	probably damaging	Het
BC005561	T	C	5: 104,521,023	V1137A	probably benign	Het
Cct2	G	A	10: 117,054,135	P10L	probably damaging	Het
Cdc23	C	A	18: 34,637,486		probably benign	Het
Chrna2	G	T	14: 66,149,457	V351L	probably benign	Het
Clca3a1	T	A	3: 144,755,309	T194S	probably benign	Het
Col18a1	C	A	10: 77,088,887	D23Y	probably damaging	Het
Cyp2c50	A	C	19: 40,113,518	K400T	possibly damaging	Het
Cyp2c54	G	T	19: 40,046,255	Q324K	possibly damaging	Het
Dcpp2	T	A	17: 23,900,573	Y120*	probably null	Het
Ddx11	C	T	17: 66,134,130	R242W	probably damaging	Het
Dnah7b	T	A	1: 46,233,711	V2333E	possibly damaging	Het
Eno3	T	A	11: 70,661,411	F296L	probably damaging	Het
Flnc	G	A	6: 29,442,941	V492M	probably damaging	Het
Gdap1	T	G	1: 17,159,907		probably benign	Het
Gm1587	C	T	14: 77,794,843	E118K	unknown	Het
Gm4981	T	A	10: 58,235,801	N197I	possibly damaging	Het
Gprin3	T	C	6: 59,354,560	E254G	possibly damaging	Het
Hcrt	G	A	11: 100,761,853	R112C	probably damaging	Het
Hoxa4	A	T	6: 52,190,677	Y175N	probably benign	Het
Hydin	G	A	8: 110,392,325	G504R	probably damaging	Het
Il1rl1	A	G	1: 40,446,663	R325G	possibly damaging	Het
Kcp	A	T	6: 29,484,637	L1314Q	probably damaging	Het
Kdm5b	C	T	1: 134,631,304	P1522L	possibly damaging	Het
Kmt2d	T	G	15: 98,846,046		probably benign	Het
Map3k20	C	T	2: 72,438,227	T526I	probably damaging	Het
Mfap2	A	G	4: 141,014,243	Q71R	possibly damaging	Het
Mme	T	A	3: 63,328,064	Y178N	probably damaging	Het
Msr1	A	G	8: 39,620,018	V164A	possibly damaging	Het
Mybbp1a	T	C	11: 72,447,170	V646A	probably damaging	Het
Mybpc3	A	T	2: 91,135,369	K1175N	probably benign	Het
Myo1c	T	A	11: 75,661,499	L366Q	probably benign	Het
Olfr105-ps	T	C	17: 37,383,398	V277A	possibly damaging	Het
Olfr308	A	G	7: 86,321,734	Y73H	probably damaging	Het
Olfr381	A	G	11: 73,486,135	S230P	possibly damaging	Het
Palmd	T	C	3: 116,923,823	T342A	probably benign	Het
Pde4d	A	G	13: 109,740,406	T29A	probably benign	Het
Rapgef5	A	G	12: 117,728,670	E563G	possibly damaging	Het
Rdh19	A	G	10: 127,850,148	N43S	probably benign	Het
Rnf44	A	C	13: 54,683,148	S98R	probably damaging	Het
Samhd1	C	A	2: 157,123,449	V149L	possibly damaging	Het
Scn4a	G	T	11: 106,347,818	N214K	probably damaging	Het
Sh3bp4	A	G	1: 89,145,869	N813S	probably benign	Het
Sirt3	A	T	7: 140,878,112	C41*	probably null	Het
Speg	C	A	1: 75,422,547	P2213T	probably benign	Het
Srcin1	T	G	11: 97,525,553	E951A	probably damaging	Het
Syn2	C	G	6: 115,237,298	T161S	probably benign	Het
Tbc1d4	T	C	14: 101,507,213	T326A	probably benign	Het
Tes	T	A	6: 17,099,701		probably null	Het
Tln1	T	C	4: 43,553,030	T354A	probably damaging	Het
Ttn	G	T	2: 76,802,361	S12370R	possibly damaging	Het
Twsg1	T	C	17: 65,929,763	T91A	probably benign	Het
Vmn1r181	C	T	7: 23,984,809	T233I	probably benign	Het
Wee2	A	T	6: 40,455,241	N248I	possibly damaging	Het
Zfp740	G	T	15: 102,208,243	C56F	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
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
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'- TGCAGCCTTCTCCTAAAGGG -3'
(R):5'- AGAAGCTCTCAAAGGTTGGCC -3'

Sequencing Primer
(F):5'- TCCTAAAGGGAGCCAGGCAC -3'
(R):5'- AAGCCCACATCTTCTAAATTTGC -3'

Posted On

2015-10-08