Mutagenetix > Incidental Mutations

Incidental Mutation 'R3410:Col6a2'

258476

Institutional Source

Beutler Lab

Gene Symbol

Col6a2

Ensembl Gene

ENSMUSG00000020241

Gene Name

collagen, type VI, alpha 2

Synonyms

Col6a-2

MMRRC Submission

040628-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3410 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76595762-76623630 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76603359 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 826 (I826V)

Ref Sequence

ENSEMBL: ENSMUSP00000001181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001181] [ENSMUST00000105413]

Predicted Effect

probably benign
Transcript: ENSMUST00000001181
AA Change: I826V

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: I826V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	59	246	9.55e-29	SMART
Pfam:Collagen	269	329	3.3e-11	PFAM
Pfam:Collagen	317	383	6.2e-10	PFAM
Pfam:Collagen	366	430	2.2e-8	PFAM
Pfam:Collagen	424	483	1.7e-9	PFAM
low complexity region	502	517	N/A	INTRINSIC
Pfam:Collagen	546	605	1.1e-9	PFAM
VWA	628	816	7.51e-36	SMART
VWA	846	1029	3.97e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105413
AA Change: I826V

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: I826V

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
VWA	59	246	9.55e-29	SMART
Pfam:Collagen	269	330	5.2e-12	PFAM
Pfam:Collagen	316	384	6.1e-10	PFAM
Pfam:Collagen	364	431	1.4e-8	PFAM
Pfam:Collagen	424	483	5.3e-10	PFAM
Pfam:Collagen	475	542	3.3e-9	PFAM
Pfam:Collagen	531	605	7.4e-8	PFAM
VWA	628	816	7.51e-36	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137365

Meta Mutation Damage Score

0.0627

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (59/59)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit reduced body weight. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adad2	T	C	8: 119,615,969	V418A	probably benign	Het
Adamts16	T	C	13: 70,753,226	T911A	probably benign	Het
Adgra1	T	C	7: 139,847,703	F62S	possibly damaging	Het
Adgra3	A	G	5: 50,001,930	V326A	probably damaging	Het
Adgrg6	A	G	10: 14,440,370	F569S	probably benign	Het
Alcam	T	C	16: 52,309,898	T30A	probably null	Het
Arnt2	G	A	7: 84,275,447	R391W	probably damaging	Het
Ascc3	T	C	10: 50,700,100	V817A	probably damaging	Het
Atp13a4	G	T	16: 29,413,749	T923K	probably damaging	Het
Atp5o	C	T	16: 91,928,906	R64H	probably damaging	Het
Ccdc185	T	G	1: 182,748,748	Q125H	possibly damaging	Het
Ccdc88a	T	A	11: 29,486,006	C10S	probably damaging	Het
Cct2	T	C	10: 117,062,063	N73S	probably benign	Het
Clock	G	A	5: 76,229,554	Q633*	probably null	Het
Cpsf1	G	T	15: 76,601,781	Y396*	probably null	Het
Dnah1	A	T	14: 31,269,817	M3076K	possibly damaging	Het
Dxo	A	G	17: 34,838,849	N177D	probably damaging	Het
Fbxw28	A	T	9: 109,338,404	V95E	possibly damaging	Het
Galnt6	T	C	15: 100,699,137	N383D	probably damaging	Het
Gpat2	G	A	2: 127,428,291	V75M	probably damaging	Het
Grik5	T	C	7: 25,062,972	D198G	probably benign	Het
Gsdmc4	A	G	15: 63,892,046	S401P	probably benign	Het
Gspt1	A	T	16: 11,229,245	D435E	probably damaging	Het
Hsf2	T	C	10: 57,505,282	S266P	probably damaging	Het
Jade2	T	C	11: 51,817,223	D721G	probably benign	Het
Klhl7	G	T	5: 24,138,321	V212L	probably damaging	Het
Klra17	T	A	6: 129,874,846	N21I	probably damaging	Het
L3mbtl3	T	C	10: 26,339,299	N196S	unknown	Het
Lama3	G	C	18: 12,413,858		probably null	Het
Mcm5	T	C	8: 75,121,644	M507T	possibly damaging	Het
Mycbp2	T	C	14: 103,135,117	R814G	probably damaging	Het
Nlrp4b	A	G	7: 10,715,529	E186G	probably damaging	Het
Nlrp4c	A	G	7: 6,092,570	K816E	possibly damaging	Het
Nod1	G	T	6: 54,944,917	R139S	probably benign	Het
Nudcd1	T	C	15: 44,420,811	M60V	probably benign	Het
Olfr1453	G	C	19: 13,028,047	A94G	probably benign	Het
Olfr487	G	A	7: 108,212,283	P82L	possibly damaging	Het
Olfr494	A	T	7: 108,368,344	I285F	possibly damaging	Het
Olfr945	G	T	9: 39,258,601	Q24K	possibly damaging	Het
Ovol2	A	G	2: 144,317,876	S82P	probably benign	Het
Ppl	T	C	16: 5,107,517	E86G	possibly damaging	Het
Ptch1	T	G	13: 63,524,959	E944A	probably benign	Het
Ripk4	T	C	16: 97,743,957	T497A	probably benign	Het
Scml4	A	G	10: 42,957,671	Y327C	probably damaging	Het
Serpina3n	A	G	12: 104,411,277	E263G	possibly damaging	Het
Six4	A	G	12: 73,112,883	F101S	probably damaging	Het
Sltm	T	G	9: 70,585,958	L728V	probably damaging	Het
Sptb	T	G	12: 76,610,815	K1311Q	possibly damaging	Het
Sycp1	T	C	3: 102,841,041	K812E	possibly damaging	Het
Tenm4	T	C	7: 96,852,530	Y1314H	probably damaging	Het
Tmem67	A	T	4: 12,073,952	M288K	probably benign	Het
Toporsl	T	C	4: 52,610,970	S288P	probably benign	Het
Ttn	A	C	2: 76,942,405	N2415K	possibly damaging	Het
Vmn2r65	T	C	7: 84,946,688	I263V	probably benign	Het
Vmn2r89	A	T	14: 51,456,171	E326V	probably damaging	Het
Wdr81	A	G	11: 75,452,932	I503T	probably damaging	Het

Other mutations in Col6a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Col6a2	APN	10	76614534	missense	probably damaging	0.96
IGL01995:Col6a2	APN	10	76604842	splice site	probably benign
IGL02005:Col6a2	APN	10	76610173	missense	probably damaging	1.00
IGL02793:Col6a2	APN	10	76596310	missense	possibly damaging	0.96
IGL03144:Col6a2	APN	10	76614425	missense	probably benign
piddling	UTSW	10	76608106	critical splice donor site	probably null
R0137:Col6a2	UTSW	10	76596425	missense	probably damaging	1.00
R0371:Col6a2	UTSW	10	76614473	missense	probably benign	0.25
R0423:Col6a2	UTSW	10	76614917	missense	possibly damaging	0.85
R0554:Col6a2	UTSW	10	76611161	critical splice donor site	probably null
R0781:Col6a2	UTSW	10	76607740	missense	probably benign	0.00
R0831:Col6a2	UTSW	10	76604105	missense	probably damaging	1.00
R1110:Col6a2	UTSW	10	76607740	missense	probably benign	0.00
R1499:Col6a2	UTSW	10	76603710	missense	probably damaging	1.00
R1502:Col6a2	UTSW	10	76614678	missense	probably benign	0.00
R1854:Col6a2	UTSW	10	76614812	missense	probably damaging	0.98
R1878:Col6a2	UTSW	10	76614788	missense	probably benign	0.00
R4110:Col6a2	UTSW	10	76606169	splice site	probably null
R4242:Col6a2	UTSW	10	76608106	critical splice donor site	probably null
R5562:Col6a2	UTSW	10	76599675	nonsense	probably null
R5603:Col6a2	UTSW	10	76596769	missense	probably damaging	1.00
R5641:Col6a2	UTSW	10	76613278	missense	probably damaging	1.00
R5681:Col6a2	UTSW	10	76609251	splice site	probably null
R5707:Col6a2	UTSW	10	76611031	missense	possibly damaging	0.95
R5735:Col6a2	UTSW	10	76599893	missense	probably benign	0.32
R5789:Col6a2	UTSW	10	76604389	missense	probably damaging	1.00
R6134:Col6a2	UTSW	10	76607144	missense	probably damaging	0.97
R6156:Col6a2	UTSW	10	76604170	missense	possibly damaging	0.92
R6208:Col6a2	UTSW	10	76615057	missense	possibly damaging	0.88
R6296:Col6a2	UTSW	10	76611049	missense	probably damaging	1.00
R6328:Col6a2	UTSW	10	76614378	missense	possibly damaging	0.67
R6329:Col6a2	UTSW	10	76599828	missense	probably benign	0.01
R6722:Col6a2	UTSW	10	76614558	missense	probably damaging	0.98
R7012:Col6a2	UTSW	10	76614677	missense	possibly damaging	0.95
R7091:Col6a2	UTSW	10	76615091	missense	unknown
R7422:Col6a2	UTSW	10	76603336	nonsense	probably null
R7655:Col6a2	UTSW	10	76607756	missense	probably benign	0.00
R7656:Col6a2	UTSW	10	76607756	missense	probably benign	0.00
R7802:Col6a2	UTSW	10	76603798	missense	probably damaging	1.00
R7986:Col6a2	UTSW	10	76615138	missense	probably benign
R8156:Col6a2	UTSW	10	76596791	missense	possibly damaging	0.91
R8233:Col6a2	UTSW	10	76608706	critical splice donor site	probably null
R8501:Col6a2	UTSW	10	76603557	missense	probably damaging	0.99
RF020:Col6a2	UTSW	10	76606209	critical splice acceptor site	probably null
Z1177:Col6a2	UTSW	10	76596350	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- GAACCTCTGACTCTACCATGC -3'
(R):5'- ACTCCATTGCCTGTGACAAGC -3'

Sequencing Primer
(F):5'- TACCATGCCAGGGGTGAACTTC -3'
(R):5'- GCAAGTGCGCAACATGAC -3'

Posted On

2015-01-23