Mutagenetix > Incidental Mutation

Incidental Mutation 'R0137:Col6a2'

22051

Institutional Source

Beutler Lab

Gene Symbol

Col6a2

Ensembl Gene

ENSMUSG00000020241

Gene Name

collagen, type VI, alpha 2

Synonyms

Col6a-2

MMRRC Submission

038422-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0137 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

76431596-76459464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76432259 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 965 (G965C)

Ref Sequence

ENSEMBL: ENSMUSP00000001181 (fasta)

Gene Model

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

AlphaFold

Q02788

Predicted Effect

probably damaging
Transcript: ENSMUST00000001181
AA Change: G965C

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

SMART Domains

Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: G965C

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

SMART Domains

Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241

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

0.8071

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.1%
20x: 91.8%

Validation Efficiency

95% (94/99)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	A	T	8: 120,878,115 (GRCm39)	H190L	possibly damaging	Het
Adap1	A	G	5: 139,278,976 (GRCm39)		probably benign	Het
Adgra3	C	T	5: 50,121,182 (GRCm39)		probably benign	Het
Adgre5	A	T	8: 84,451,527 (GRCm39)	V527E	probably damaging	Het
Anapc5	A	T	5: 122,938,695 (GRCm39)	Y360N	probably damaging	Het
Angptl6	C	A	9: 20,789,683 (GRCm39)	A70S	probably benign	Het
Ankdd1a	C	A	9: 65,417,610 (GRCm39)	K137N	probably null	Het
Ccdc170	T	C	10: 4,496,950 (GRCm39)		probably benign	Het
Ccdc51	A	G	9: 108,920,698 (GRCm39)	E195G	probably damaging	Het
Cdc37	A	T	9: 21,053,426 (GRCm39)	C204S	possibly damaging	Het
Cfap36	T	C	11: 29,172,431 (GRCm39)		probably benign	Het
Csn1s2a	G	A	5: 87,926,826 (GRCm39)	S53N	possibly damaging	Het
Dab2ip	T	C	2: 35,582,388 (GRCm39)		probably null	Het
Dhx58	A	G	11: 100,587,823 (GRCm39)	V578A	probably damaging	Het
Diaph1	G	T	18: 38,024,902 (GRCm39)	Q520K	unknown	Het
Eefsec	C	A	6: 88,274,631 (GRCm39)	K444N	probably benign	Het
Eftud2	A	T	11: 102,759,443 (GRCm39)	H153Q	possibly damaging	Het
Eif5b	T	G	1: 38,058,324 (GRCm39)	S209A	probably benign	Het
Exosc2	T	A	2: 31,562,497 (GRCm39)	Y46N	probably damaging	Het
F2	C	T	2: 91,456,075 (GRCm39)	G562D	probably damaging	Het
Fgf23	G	A	6: 127,057,128 (GRCm39)	G148D	probably damaging	Het
Fmnl3	G	C	15: 99,220,619 (GRCm39)		probably benign	Het
Fstl5	G	A	3: 76,614,786 (GRCm39)	G179R	probably damaging	Het
Garre1	A	T	7: 33,938,644 (GRCm39)	W246R	probably damaging	Het
Gart	T	A	16: 91,422,282 (GRCm39)	Q745L	probably benign	Het
Gmeb1	T	A	4: 131,959,419 (GRCm39)	M212L	probably benign	Het
Gpaa1	T	C	15: 76,218,981 (GRCm39)	Y548H	probably damaging	Het
Gpatch1	T	C	7: 34,986,667 (GRCm39)	E763G	probably damaging	Het
Grm8	T	A	6: 27,762,389 (GRCm39)	I279F	probably damaging	Het
Hcls1	T	A	16: 36,771,536 (GRCm39)	H147Q	probably damaging	Het
Hpcal1	A	C	12: 17,836,389 (GRCm39)	D73A	probably damaging	Het
Il22ra1	T	C	4: 135,478,317 (GRCm39)	S463P	probably benign	Het
Itgbl1	G	A	14: 124,078,098 (GRCm39)		probably null	Het
Izumo3	G	T	4: 92,035,437 (GRCm39)		probably benign	Het
Kcna5	A	T	6: 126,510,346 (GRCm39)	L594Q	probably damaging	Het
Kif13a	A	T	13: 46,918,079 (GRCm39)	D409E	probably benign	Het
Kif9	A	T	9: 110,314,106 (GRCm39)	I39F	probably damaging	Het
Klri2	C	T	6: 129,709,171 (GRCm39)	R227H	possibly damaging	Het
Lamc3	G	A	2: 31,798,628 (GRCm39)	G445S	probably damaging	Het
Lctl	A	G	9: 64,024,980 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,325,327 (GRCm39)	L1384P	probably damaging	Het
Mcm9	G	A	10: 53,439,526 (GRCm39)	S549L	possibly damaging	Het
Ms4a15	G	A	19: 10,956,697 (GRCm39)		probably benign	Het
Mtor	T	C	4: 148,555,081 (GRCm39)	V901A	possibly damaging	Het
Nckap1l	A	T	15: 103,390,391 (GRCm39)	I721F	probably benign	Het
Nemp2	T	C	1: 52,684,588 (GRCm39)	V298A	probably benign	Het
Npc1l1	T	A	11: 6,178,148 (GRCm39)	K421*	probably null	Het
Npr1	C	T	3: 90,363,244 (GRCm39)	V879M	probably damaging	Het
Odad4	A	G	11: 100,454,394 (GRCm39)	E393G	probably damaging	Het
Or2ad1	A	G	13: 21,326,336 (GRCm39)	V297A	possibly damaging	Het
Or51q1c	A	G	7: 103,652,709 (GRCm39)	T82A	probably benign	Het
Osgin1	A	T	8: 120,169,219 (GRCm39)	I39F	possibly damaging	Het
Phip	G	C	9: 82,809,244 (GRCm39)		probably null	Het
Pkdrej	G	T	15: 85,705,768 (GRCm39)	P56Q	possibly damaging	Het
Plcxd2	A	G	16: 45,800,889 (GRCm39)	Y112H	probably damaging	Het
Plekha1	C	T	7: 130,499,176 (GRCm39)	T155M	probably damaging	Het
Prkdc	T	C	16: 15,558,196 (GRCm39)		probably null	Het
Prss1	A	G	6: 41,439,495 (GRCm39)	H76R	probably damaging	Het
Psg23	T	C	7: 18,348,558 (GRCm39)	D83G	probably benign	Het
Ptprd	T	A	4: 76,055,140 (GRCm39)	Q196L	probably benign	Het
Ranbp3l	A	T	15: 9,063,067 (GRCm39)	H292L	probably damaging	Het
Ranbp6	T	C	19: 29,787,097 (GRCm39)	E1085G	probably benign	Het
Rccd1	A	G	7: 79,970,326 (GRCm39)	V97A	possibly damaging	Het
Rchy1	T	C	5: 92,105,458 (GRCm39)	S48G	probably benign	Het
Rnmt	G	A	18: 68,446,771 (GRCm39)	M265I	probably benign	Het
Robo3	A	T	9: 37,336,640 (GRCm39)	M376K	probably benign	Het
Rrp12	T	C	19: 41,862,289 (GRCm39)	D898G	probably benign	Het
Scg3	A	T	9: 75,570,462 (GRCm39)		probably benign	Het
Sec31b	A	T	19: 44,522,821 (GRCm39)	M57K	probably damaging	Het
Slc17a6	A	C	7: 51,315,892 (GRCm39)	I387L	probably benign	Het
Speer4a1	T	A	5: 26,240,982 (GRCm39)	Q170L	possibly damaging	Het
Srsf9	A	G	5: 115,470,260 (GRCm39)	D146G	possibly damaging	Het
Ss18	A	G	18: 14,788,200 (GRCm39)	M90T	probably damaging	Het
Syna	A	T	5: 134,588,314 (GRCm39)	F212I	possibly damaging	Het
Tex54	A	G	19: 8,718,221 (GRCm39)		probably benign	Het
Thsd1	A	G	8: 22,733,055 (GRCm39)	H34R	probably damaging	Het
Tmem143	T	C	7: 45,547,086 (GRCm39)	I84T	probably benign	Het
Trim50	T	C	5: 135,395,487 (GRCm39)	V281A	probably damaging	Het
Trp53i11	C	A	2: 93,029,696 (GRCm39)		probably benign	Het
Ttll4	C	T	1: 74,718,851 (GRCm39)	T234I	possibly damaging	Het
Ttyh1	A	T	7: 4,127,719 (GRCm39)	I136F	possibly damaging	Het
Ube2f	T	C	1: 91,189,976 (GRCm39)		probably benign	Het
Vcl	T	A	14: 21,037,083 (GRCm39)	L227*	probably null	Het
Vmn1r222	A	C	13: 23,416,974 (GRCm39)	C80G	probably damaging	Het
Vps13b	G	T	15: 35,926,365 (GRCm39)	A3889S	probably benign	Het
Vps8	T	C	16: 21,323,136 (GRCm39)		probably benign	Het
Zbtb44	A	G	9: 30,978,006 (GRCm39)	Y422C	probably damaging	Het
Zfp180	A	G	7: 23,805,158 (GRCm39)	S526G	possibly damaging	Het
Zfp518a	A	C	19: 40,904,310 (GRCm39)	E1413A	probably damaging	Het
Zfp629	T	A	7: 127,210,858 (GRCm39)	Y317F	probably damaging	Het
Zfp804b	T	C	5: 6,820,534 (GRCm39)	E843G	probably benign	Het

Other mutations in Col6a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Col6a2	APN	10	76,450,368 (GRCm39)	missense	probably damaging	0.96
IGL01995:Col6a2	APN	10	76,440,676 (GRCm39)	splice site	probably benign
IGL02005:Col6a2	APN	10	76,446,007 (GRCm39)	missense	probably damaging	1.00
IGL02793:Col6a2	APN	10	76,432,144 (GRCm39)	missense	possibly damaging	0.96
IGL03144:Col6a2	APN	10	76,450,259 (GRCm39)	missense	probably benign
piddling	UTSW	10	76,443,940 (GRCm39)	critical splice donor site	probably null
R0371:Col6a2	UTSW	10	76,450,307 (GRCm39)	missense	probably benign	0.25
R0423:Col6a2	UTSW	10	76,450,751 (GRCm39)	missense	possibly damaging	0.85
R0554:Col6a2	UTSW	10	76,446,995 (GRCm39)	critical splice donor site	probably null
R0781:Col6a2	UTSW	10	76,443,574 (GRCm39)	missense	probably benign	0.00
R0831:Col6a2	UTSW	10	76,439,939 (GRCm39)	missense	probably damaging	1.00
R1110:Col6a2	UTSW	10	76,443,574 (GRCm39)	missense	probably benign	0.00
R1499:Col6a2	UTSW	10	76,439,544 (GRCm39)	missense	probably damaging	1.00
R1502:Col6a2	UTSW	10	76,450,512 (GRCm39)	missense	probably benign	0.00
R1854:Col6a2	UTSW	10	76,450,646 (GRCm39)	missense	probably damaging	0.98
R1878:Col6a2	UTSW	10	76,450,622 (GRCm39)	missense	probably benign	0.00
R3410:Col6a2	UTSW	10	76,439,193 (GRCm39)	missense	probably benign	0.17
R4110:Col6a2	UTSW	10	76,442,003 (GRCm39)	splice site	probably null
R4242:Col6a2	UTSW	10	76,443,940 (GRCm39)	critical splice donor site	probably null
R5562:Col6a2	UTSW	10	76,435,509 (GRCm39)	nonsense	probably null
R5603:Col6a2	UTSW	10	76,432,603 (GRCm39)	missense	probably damaging	1.00
R5641:Col6a2	UTSW	10	76,449,112 (GRCm39)	missense	probably damaging	1.00
R5681:Col6a2	UTSW	10	76,445,085 (GRCm39)	splice site	probably null
R5707:Col6a2	UTSW	10	76,446,865 (GRCm39)	missense	possibly damaging	0.95
R5735:Col6a2	UTSW	10	76,435,727 (GRCm39)	missense	probably benign	0.32
R5789:Col6a2	UTSW	10	76,440,223 (GRCm39)	missense	probably damaging	1.00
R6134:Col6a2	UTSW	10	76,442,978 (GRCm39)	missense	probably damaging	0.97
R6156:Col6a2	UTSW	10	76,440,004 (GRCm39)	missense	possibly damaging	0.92
R6208:Col6a2	UTSW	10	76,450,891 (GRCm39)	missense	possibly damaging	0.88
R6296:Col6a2	UTSW	10	76,446,883 (GRCm39)	missense	probably damaging	1.00
R6328:Col6a2	UTSW	10	76,450,212 (GRCm39)	missense	possibly damaging	0.67
R6329:Col6a2	UTSW	10	76,435,662 (GRCm39)	missense	probably benign	0.01
R6722:Col6a2	UTSW	10	76,450,392 (GRCm39)	missense	probably damaging	0.98
R7012:Col6a2	UTSW	10	76,450,511 (GRCm39)	missense	possibly damaging	0.95
R7091:Col6a2	UTSW	10	76,450,925 (GRCm39)	missense	unknown
R7422:Col6a2	UTSW	10	76,439,170 (GRCm39)	nonsense	probably null
R7655:Col6a2	UTSW	10	76,443,590 (GRCm39)	missense	probably benign	0.00
R7656:Col6a2	UTSW	10	76,443,590 (GRCm39)	missense	probably benign	0.00
R7802:Col6a2	UTSW	10	76,439,632 (GRCm39)	missense	probably damaging	1.00
R7986:Col6a2	UTSW	10	76,450,972 (GRCm39)	missense	probably benign
R8156:Col6a2	UTSW	10	76,432,625 (GRCm39)	missense	possibly damaging	0.91
R8233:Col6a2	UTSW	10	76,444,540 (GRCm39)	critical splice donor site	probably null
R8501:Col6a2	UTSW	10	76,439,391 (GRCm39)	missense	probably damaging	0.99
R8826:Col6a2	UTSW	10	76,439,433 (GRCm39)	missense	probably damaging	0.99
R8885:Col6a2	UTSW	10	76,450,741 (GRCm39)	nonsense	probably null
R8948:Col6a2	UTSW	10	76,446,527 (GRCm39)	missense	probably damaging	1.00
R8989:Col6a2	UTSW	10	76,440,015 (GRCm39)	missense	probably damaging	1.00
R9783:Col6a2	UTSW	10	76,440,720 (GRCm39)	critical splice acceptor site	probably null
RF020:Col6a2	UTSW	10	76,442,043 (GRCm39)	critical splice acceptor site	probably null
Z1177:Col6a2	UTSW	10	76,432,184 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TGCTAACAGATCCAGCGGATGAAC -3'
(R):5'- TGGCAGCCAGAATCAGCAACAG -3'

Sequencing Primer
(F):5'- ATCCAGCGGATGAACCTGTC -3'
(R):5'- ATCAGCAACAGGTGGCCTTC -3'

Posted On

2013-04-12