Mutagenetix > Incidental Mutation

Incidental Mutation 'R1499:Col6a2'

168712

Institutional Source

Beutler Lab

Gene Symbol

Col6a2

Ensembl Gene

ENSMUSG00000020241

Gene Name

collagen, type VI, alpha 2

Synonyms

Col6a-2

MMRRC Submission

039550-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1499 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76431596-76459464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76439544 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 740 (V740E)

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: V740E

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

SMART Domains

Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: V740E

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 damaging
Transcript: ENSMUST00000105413
AA Change: V740E

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: V740E

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

0.8217

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.4%
20x: 93.4%

Validation Efficiency

99% (83/84)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,030,458 (GRCm39)	Y763F	probably benign	Het
Abcb10	C	T	8: 124,688,791 (GRCm39)	G495D	probably damaging	Het
Actl11	A	G	9: 107,808,682 (GRCm39)	T1002A	probably damaging	Het
Ampd1	T	A	3: 102,998,980 (GRCm39)	N378K	probably damaging	Het
Arhgap42	A	G	9: 9,033,587 (GRCm39)		probably benign	Het
Arhgap6	C	A	X: 167,579,499 (GRCm39)	P95T	possibly damaging	Het
Atg14	T	C	14: 47,798,102 (GRCm39)	N87S	probably benign	Het
Atp9b	C	T	18: 80,805,353 (GRCm39)	C735Y	probably damaging	Het
Atp9b	T	A	18: 80,822,122 (GRCm39)	T110S	probably benign	Het
Birc6	T	G	17: 74,919,314 (GRCm39)	L221R	probably damaging	Het
Ces1c	A	G	8: 93,854,233 (GRCm39)	F101L	probably benign	Het
Cfap91	A	G	16: 38,141,762 (GRCm39)	V390A	probably damaging	Het
Chsy1	T	C	7: 65,821,750 (GRCm39)	Y662H	probably damaging	Het
Cldn12	A	T	5: 5,557,900 (GRCm39)	F176I	probably benign	Het
Col5a2	A	G	1: 45,450,626 (GRCm39)	S374P	probably benign	Het
Cpne3	A	T	4: 19,526,336 (GRCm39)	I401K	probably damaging	Het
Cspp1	T	A	1: 10,159,191 (GRCm39)		probably null	Het
Ddn	G	A	15: 98,704,647 (GRCm39)	T215I	possibly damaging	Het
Dync1i1	T	C	6: 5,769,799 (GRCm39)		probably benign	Het
Dync2li1	T	C	17: 84,954,667 (GRCm39)		probably benign	Het
Eif2a	T	A	3: 58,445,005 (GRCm39)	L50*	probably null	Het
Elavl3	G	A	9: 21,929,875 (GRCm39)	A343V	probably damaging	Het
Fastkd1	T	C	2: 69,538,982 (GRCm39)		probably null	Het
Fgf8	C	A	19: 45,730,786 (GRCm39)	V80F	possibly damaging	Het
Fras1	A	T	5: 96,891,046 (GRCm39)	E2858D	probably benign	Het
Fshr	A	T	17: 89,293,529 (GRCm39)	L383Q	probably damaging	Het
Glb1	A	G	9: 114,246,171 (GRCm39)	K74R	probably benign	Het
Gmeb2	T	G	2: 180,897,019 (GRCm39)	M290L	probably benign	Het
Gnptg	A	G	17: 25,454,828 (GRCm39)		probably null	Het
Grik2	A	C	10: 49,008,871 (GRCm39)	S739A	probably damaging	Het
Grk2	T	A	19: 4,337,222 (GRCm39)	Q659L	probably benign	Het
Hdhd5	A	G	6: 120,491,473 (GRCm39)	V210A	probably damaging	Het
Hyal1	C	T	9: 107,455,091 (GRCm39)	L134F	probably damaging	Het
Itgb2	A	T	10: 77,381,987 (GRCm39)	K18N	possibly damaging	Het
Jam3	A	T	9: 27,017,701 (GRCm39)	I29K	possibly damaging	Het
Kcnh3	C	A	15: 99,137,796 (GRCm39)	D830E	probably benign	Het
Kcnmb4	T	C	10: 116,309,203 (GRCm39)	D75G	possibly damaging	Het
Kdm4b	A	G	17: 56,707,025 (GRCm39)	Y981C	probably damaging	Het
Klk1b26	C	A	7: 43,665,810 (GRCm39)	D207E	probably benign	Het
Kmt2a	G	T	9: 44,759,563 (GRCm39)	T762N	probably benign	Het
Kmt2d	A	G	15: 98,742,819 (GRCm39)		probably benign	Het
Lama4	T	C	10: 38,964,876 (GRCm39)	S1414P	possibly damaging	Het
Lce1f	C	G	3: 92,626,276 (GRCm39)	C127S	unknown	Het
Map7d1	A	G	4: 126,128,558 (GRCm39)		probably null	Het
Ninl	T	C	2: 150,822,096 (GRCm39)	D2G	possibly damaging	Het
Or2w1b	T	A	13: 21,300,303 (GRCm39)	M147K	probably benign	Het
Or5k3	A	G	16: 58,969,287 (GRCm39)	T25A	probably benign	Het
Or5m11b	C	T	2: 85,806,372 (GRCm39)	P262S	possibly damaging	Het
Or6n1	T	A	1: 173,916,813 (GRCm39)	L69*	probably null	Het
Or8g18	G	C	9: 39,149,547 (GRCm39)	P58A	probably benign	Het
Pax8	A	G	2: 24,319,608 (GRCm39)	Y381H	possibly damaging	Het
Pde7a	T	C	3: 19,314,408 (GRCm39)	I63V	possibly damaging	Het
Pgm3	A	T	9: 86,452,340 (GRCm39)	F40Y	probably benign	Het
Phrf1	G	T	7: 140,836,564 (GRCm39)	D78Y	probably damaging	Het
Plekhg1	C	T	10: 3,890,538 (GRCm39)		probably benign	Het
Prss59	A	T	6: 40,898,652 (GRCm39)	S199T	probably benign	Het
Pum1	T	C	4: 130,446,567 (GRCm39)	S209P	probably damaging	Het
Qtrt2	A	T	16: 43,689,337 (GRCm39)	F220L	probably benign	Het
Rgs9	A	G	11: 109,159,747 (GRCm39)		probably null	Het
Rin3	A	G	12: 102,335,018 (GRCm39)	T230A	unknown	Het
Ros1	A	T	10: 51,974,773 (GRCm39)	V1604E	possibly damaging	Het
Rpp14	A	G	14: 8,090,528 (GRCm38)	M151V	probably benign	Het
Sacs	T	A	14: 61,451,153 (GRCm39)	F4400I	possibly damaging	Het
Scamp1	C	T	13: 94,361,437 (GRCm39)	V148I	probably benign	Het
Slc13a5	A	G	11: 72,141,557 (GRCm39)	C428R	probably damaging	Het
Slc43a2	T	G	11: 75,453,733 (GRCm39)		probably null	Het
Smarcc2	T	A	10: 128,299,741 (GRCm39)	N135K	probably damaging	Het
Snx15	G	C	19: 6,172,094 (GRCm39)	S116R	probably damaging	Het
Stag1	A	G	9: 100,737,885 (GRCm39)	E414G	possibly damaging	Het
Stag1	A	T	9: 100,769,426 (GRCm39)		probably benign	Het
Tmem106a	T	A	11: 101,481,263 (GRCm39)	L257Q	possibly damaging	Het
Tnc	C	T	4: 63,882,991 (GRCm39)	D1968N	probably benign	Het
Trim42	A	G	9: 97,248,138 (GRCm39)	L186P	possibly damaging	Het
Tshb	T	A	3: 102,685,624 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,584,484 (GRCm39)	D13881V	probably damaging	Het
Uqcrc2	T	C	7: 120,239,506 (GRCm39)	V56A	probably benign	Het
Uty	G	A	Y: 1,197,228 (GRCm39)	T113I	probably damaging	Het
Vps13c	A	G	9: 67,864,787 (GRCm39)	E3032G	probably benign	Het
Wfdc9	T	G	2: 164,493,729 (GRCm39)		probably benign	Het
Zc3h7a	G	A	16: 10,980,520 (GRCm39)	T31I	probably damaging	Het
Zfp462	T	C	4: 55,060,046 (GRCm39)	S1191P	probably damaging	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
R0137:Col6a2	UTSW	10	76,432,259 (GRCm39)	missense	probably damaging	1.00
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
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'- GTCACAGGCAATGGAGTAGAGGTTC -3'
(R):5'- ACACACCCCGTGATTCATTCCAGG -3'

Sequencing Primer
(F):5'- AACATGTCACCGATGCCA -3'
(R):5'- ATTCATTCCAGGTGGCCCAG -3'

Posted On

2014-04-13