Mutagenetix > Incidental Mutation

Incidental Mutation 'R6329:Col6a2'

509408

Institutional Source

Beutler Lab

Gene Symbol

Col6a2

Ensembl Gene

ENSMUSG00000020241

Gene Name

collagen, type VI, alpha 2

Synonyms

Col6a-2

MMRRC Submission

044483-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6329 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76431596-76459464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76435662 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 858 (T858A)

Ref Sequence

ENSEMBL: ENSMUSP00000101053 (fasta)

Gene Model

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

AlphaFold

Q02788

Predicted Effect

probably benign
Transcript: ENSMUST00000001181

SMART Domains

Protein: ENSMUSP00000001181
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	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: T858A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: T858A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	T	C	3: 137,879,457 (GRCm39)	H72R	probably damaging	Het
Abca13	A	T	11: 9,227,937 (GRCm39)	N660I	probably damaging	Het
Actr8	C	T	14: 29,715,041 (GRCm39)	R619*	probably null	Het
Adam18	C	A	8: 25,104,843 (GRCm39)	G657V	probably damaging	Het
Adcyap1	A	G	17: 93,510,227 (GRCm39)	E85G	probably benign	Het
Akr1c14	A	G	13: 4,137,302 (GRCm39)	Y305C	probably damaging	Het
Ankdd1b	T	A	13: 96,591,388 (GRCm39)	H37L	possibly damaging	Het
Ap4e1	T	C	2: 126,903,636 (GRCm39)	L846P	probably benign	Het
Aqp9	A	T	9: 71,039,966 (GRCm39)	Y105*	probably null	Het
Arid1b	C	T	17: 5,387,538 (GRCm39)	Q1664*	probably null	Het
Aup1	A	G	6: 83,031,588 (GRCm39)		probably benign	Het
Bnip1	C	A	17: 27,005,684 (GRCm39)	S64*	probably null	Het
Calcr	T	A	6: 3,687,621 (GRCm39)	Q422L	probably damaging	Het
Ccdc162	T	A	10: 41,539,147 (GRCm39)	D407V	possibly damaging	Het
Ccdc66	G	T	14: 27,208,441 (GRCm39)	S760R	probably benign	Het
Cd22	T	A	7: 30,577,193 (GRCm39)	E38V	probably damaging	Het
Cggbp1	T	C	16: 64,676,383 (GRCm39)	Y150H	probably damaging	Het
Chd3	T	C	11: 69,252,510 (GRCm39)	K263R	possibly damaging	Het
Col4a2	T	A	8: 11,496,238 (GRCm39)	F1620I	probably damaging	Het
Dnah7a	T	A	1: 53,580,273 (GRCm39)	D1554V	probably damaging	Het
Dnajc25	A	T	4: 59,013,678 (GRCm39)	Q132L	probably benign	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Homo
Ehbp1l1	A	C	19: 5,768,795 (GRCm39)	I836S	possibly damaging	Het
Elf1	A	G	14: 79,810,779 (GRCm39)	Q288R	possibly damaging	Het
Fbn1	C	A	2: 125,150,393 (GRCm39)	V2608L	possibly damaging	Het
Frmpd1	T	C	4: 45,268,551 (GRCm39)	I232T	possibly damaging	Het
Fuca1	T	A	4: 135,662,137 (GRCm39)	I355N	probably damaging	Het
Gcnt4	A	G	13: 97,083,781 (GRCm39)	D359G	probably damaging	Het
Gm5134	T	C	10: 75,790,494 (GRCm39)	M30T	possibly damaging	Het
Grk1	T	G	8: 13,455,704 (GRCm39)	L196R	probably damaging	Het
Igkv14-126	A	C	6: 67,873,548 (GRCm39)	D92A	probably damaging	Het
Kmt2c	A	G	5: 25,520,600 (GRCm39)	S1837P	probably benign	Het
Lhx4	T	A	1: 155,578,300 (GRCm39)	T281S	probably benign	Het
Lrrc55	G	T	2: 85,026,653 (GRCm39)	H124N	probably benign	Het
Marchf8	T	A	6: 116,383,277 (GRCm39)	I566N	possibly damaging	Het
Mycbp2	G	A	14: 103,393,288 (GRCm39)	A3091V	probably benign	Het
Nlrp4b	A	G	7: 10,458,847 (GRCm39)	N355S	probably benign	Het
Nmur2	A	G	11: 55,920,411 (GRCm39)	V278A	probably benign	Het
Nod1	T	C	6: 54,921,689 (GRCm39)	M210V	probably benign	Het
Nt5c1b	T	A	12: 10,422,138 (GRCm39)	C63*	probably null	Het
Or1e1f	A	G	11: 73,855,568 (GRCm39)	I45V	possibly damaging	Het
Or1j17	A	T	2: 36,578,694 (GRCm39)	K227*	probably null	Het
Or4g7	C	T	2: 111,309,573 (GRCm39)	A148V	possibly damaging	Het
Or5d37	G	A	2: 87,924,008 (GRCm39)	P91S	probably damaging	Het
Or7g21	A	C	9: 19,032,253 (GRCm39)	M1L	probably benign	Het
Or8b37	T	C	9: 37,959,121 (GRCm39)	V201A	probably benign	Het
Or8g24	C	T	9: 38,989,199 (GRCm39)	V281I	probably benign	Het
Osbp2	T	A	11: 3,665,153 (GRCm39)	S517C	probably damaging	Het
Pcdha1	C	T	18: 37,065,301 (GRCm39)	P655L	probably damaging	Het
Pdcd6	A	G	13: 74,452,098 (GRCm39)	Y181H	probably damaging	Het
Perp	G	A	10: 18,731,502 (GRCm39)	G154S	probably damaging	Het
Perp	G	T	10: 18,731,503 (GRCm39)	G154V	probably damaging	Het
Pira13	T	C	7: 3,825,850 (GRCm39)	T340A	probably damaging	Het
Prokr1	T	G	6: 87,558,774 (GRCm39)	T204P	possibly damaging	Het
Prpf3	A	T	3: 95,739,890 (GRCm39)	C630S	probably damaging	Het
Pter	C	A	2: 12,985,359 (GRCm39)	H230N	probably damaging	Het
Ptprs	A	T	17: 56,724,427 (GRCm39)	Y1167*	probably null	Het
Rad54l2	T	C	9: 106,595,121 (GRCm39)	I279V	possibly damaging	Het
Rora	T	A	9: 69,280,468 (GRCm39)	L347Q	probably damaging	Het
Runx1t1	T	G	4: 13,785,136 (GRCm39)	M1R	probably null	Het
Sdcbp	A	G	4: 6,381,064 (GRCm39)	S70G	probably benign	Het
Serpinb12	A	G	1: 106,881,493 (GRCm39)	Y210C	probably damaging	Het
Sipa1	T	C	19: 5,701,517 (GRCm39)	E1015G	probably damaging	Het
Slc15a2	A	C	16: 36,572,144 (GRCm39)	L740R	possibly damaging	Het
Specc1	A	G	11: 62,047,379 (GRCm39)	E916G	probably damaging	Het
Spta1	T	C	1: 174,041,743 (GRCm39)	I1371T	possibly damaging	Het
Tagln3	T	C	16: 45,533,365 (GRCm39)	M130V	probably benign	Het
Tchh	A	T	3: 93,353,752 (GRCm39)	E1064V	unknown	Het
Tdp1	A	T	12: 99,880,330 (GRCm39)	S464C	probably damaging	Het
Tdp1	G	C	12: 99,880,331 (GRCm39)	S464T	probably benign	Het
Tenm3	T	C	8: 48,729,884 (GRCm39)	Y1374C	probably damaging	Het
Tmprss3	A	T	17: 31,402,833 (GRCm39)	Y455*	probably null	Het
Ttc5	A	G	14: 51,003,385 (GRCm39)	V433A	possibly damaging	Het
Wnt5a	A	T	14: 28,240,449 (GRCm39)	R180*	probably null	Het
Zfp53	A	G	17: 21,728,372 (GRCm39)	D135G	probably benign	Het
Zfp619	T	A	7: 39,186,969 (GRCm39)	C1000S	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	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
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
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'- TGTCAATGAACAGCTGCATCC -3'
(R):5'- AGCTTCCTGCCTATACCAGAC -3'

Sequencing Primer
(F):5'- TGAACAGCTGCATCCAGTCCTG -3'
(R):5'- TTCCTGCCTATACCAGACACCAC -3'

Posted On

2018-04-02