Mutagenetix > Incidental Mutation

Incidental Mutation 'R1878:Col6a2'

211322

Institutional Source

Beutler Lab

Gene Symbol

Col6a2

Ensembl Gene

ENSMUSG00000020241

Gene Name

collagen, type VI, alpha 2

Synonyms

Col6a-2

MMRRC Submission

039899-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1878 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

76431596-76459464 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76450622 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 103 (D103G)

Ref Sequence

ENSEMBL: ENSMUSP00000001181 (fasta)

Gene Model

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

AlphaFold

Q02788

Predicted Effect

probably benign
Transcript: ENSMUST00000001181
AA Change: D103G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: D103G

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: D103G

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

SMART Domains

Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: D103G

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: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,825,564 (GRCm39)		probably null	Het
Abcb9	A	G	5: 124,228,199 (GRCm39)	V14A	probably benign	Het
Adcy4	T	C	14: 56,007,362 (GRCm39)	D950G	probably damaging	Het
Ahctf1	T	C	1: 179,603,074 (GRCm39)	D828G	possibly damaging	Het
Ak2	T	A	4: 128,895,960 (GRCm39)	V79D	probably damaging	Het
Arhgap29	T	C	3: 121,805,020 (GRCm39)	Y870H	probably damaging	Het
Arid4a	A	G	12: 71,134,363 (GRCm39)	K1222E	probably damaging	Het
Armc1	A	T	3: 19,211,708 (GRCm39)	D37E	probably damaging	Het
Cenpm	A	T	15: 82,118,616 (GRCm39)	M166K	probably benign	Het
Cep97	G	T	16: 55,725,589 (GRCm39)	P766Q	probably damaging	Het
Col19a1	G	T	1: 24,356,476 (GRCm39)	D672E	probably benign	Het
Ddi2	T	C	4: 141,411,460 (GRCm39)	E484G	probably benign	Het
Dph1	T	C	11: 75,075,053 (GRCm39)	D100G	probably damaging	Het
Dsp	A	T	13: 38,348,831 (GRCm39)	I100F	possibly damaging	Het
Fam222b	T	C	11: 78,034,042 (GRCm39)		probably null	Het
Folh1	A	T	7: 86,420,950 (GRCm39)	H126Q	probably benign	Het
Gapvd1	A	T	2: 34,615,212 (GRCm39)	D428E	probably benign	Het
Gfus	A	G	15: 75,797,218 (GRCm39)	S306P	probably benign	Het
Gm11564	A	T	11: 99,706,266 (GRCm39)	C55S	unknown	Het
Gne	T	C	4: 44,040,434 (GRCm39)	I577V	probably damaging	Het
Gpr4	A	G	7: 18,957,049 (GRCm39)	T324A	probably damaging	Het
Hhipl1	A	T	12: 108,286,319 (GRCm39)	N542I	possibly damaging	Het
Ice2	T	C	9: 69,335,858 (GRCm39)		probably null	Het
Irgm1	C	T	11: 48,756,897 (GRCm39)	V305I	probably benign	Het
Itgal	C	A	7: 126,909,843 (GRCm39)	Q73K	probably benign	Het
Jcad	C	A	18: 4,673,857 (GRCm39)	H540N	possibly damaging	Het
Jkamp	T	A	12: 72,140,878 (GRCm39)	V141D	possibly damaging	Het
Lrrc9	T	C	12: 72,522,938 (GRCm39)		probably null	Het
Mcc	T	C	18: 44,601,467 (GRCm39)	R621G	possibly damaging	Het
Myd88	T	A	9: 119,167,686 (GRCm39)	Q140L	probably benign	Het
Mylk3	A	T	8: 86,082,028 (GRCm39)	N323K	possibly damaging	Het
Myrip	C	T	9: 120,253,721 (GRCm39)	R265W	probably damaging	Het
N4bp1	A	T	8: 87,588,169 (GRCm39)	S256R	probably damaging	Het
Nhsl1	T	G	10: 18,400,027 (GRCm39)	S418A	probably damaging	Het
Nlrp9b	A	G	7: 19,762,489 (GRCm39)	T269A	probably benign	Het
Nmt1	A	G	11: 102,943,077 (GRCm39)	N144S	probably benign	Het
Npvf	G	A	6: 50,631,303 (GRCm39)	T24I	probably benign	Het
Obscn	T	G	11: 58,886,379 (GRCm39)	Y2347S	probably damaging	Het
Or10d5	T	A	9: 39,862,053 (GRCm39)	T5S	probably benign	Het
Or14j1	T	C	17: 38,146,253 (GRCm39)	V121A	probably benign	Het
Or1j16	G	T	2: 36,530,201 (GRCm39)	R50M	possibly damaging	Het
Or2aj5	G	T	16: 19,424,501 (GRCm39)	Q306K	probably benign	Het
Or2n1c	T	C	17: 38,519,265 (GRCm39)	I43T	probably benign	Het
Or4c105	A	G	2: 88,647,805 (GRCm39)	T97A	probably benign	Het
Or51v8	A	C	7: 103,319,389 (GRCm39)	M283R	probably damaging	Het
Or7a42	T	A	10: 78,791,639 (GRCm39)	M200K	possibly damaging	Het
Osgin2	A	T	4: 16,005,493 (GRCm39)	V131D	probably damaging	Het
Pcdhac2	A	T	18: 37,278,215 (GRCm39)	K398N	possibly damaging	Het
Pcnp	A	T	16: 55,838,850 (GRCm39)	M143K	probably damaging	Het
Ppp3ca	A	G	3: 136,503,639 (GRCm39)	I71V	probably benign	Het
Ppp4c	G	T	7: 126,386,779 (GRCm39)	R103S	probably damaging	Het
Prl2c2	T	A	13: 13,179,911 (GRCm39)	M1L	probably damaging	Het
Recql5	A	T	11: 115,785,927 (GRCm39)	D615E	probably benign	Het
Robo3	T	C	9: 37,333,461 (GRCm39)	E728G	probably damaging	Het
Rps27l	T	A	9: 66,854,911 (GRCm39)		probably null	Het
Scube3	T	A	17: 28,371,387 (GRCm39)	V34E	probably benign	Het
Sez6l	A	G	5: 112,623,089 (GRCm39)	I154T	probably damaging	Het
Sgsm1	G	A	5: 113,411,381 (GRCm39)	L782F	probably damaging	Het
Slc35c1	A	G	2: 92,289,398 (GRCm39)	V36A	probably benign	Het
Snapc4	A	G	2: 26,266,165 (GRCm39)		probably null	Het
Sohlh2	C	A	3: 55,115,064 (GRCm39)	R350S	probably damaging	Het
Spag1	G	A	15: 36,181,916 (GRCm39)	E25K	probably damaging	Het
Sspo	G	A	6: 48,436,300 (GRCm39)	A1217T	possibly damaging	Het
Stil	T	C	4: 114,898,423 (GRCm39)	S1018P	probably damaging	Het
Strn	T	C	17: 78,984,755 (GRCm39)	E117G	possibly damaging	Het
Syt17	A	T	7: 118,033,468 (GRCm39)	M180K	probably benign	Het
Trem1	T	C	17: 48,548,516 (GRCm39)	S18P	possibly damaging	Het
Umad1	T	A	6: 8,427,181 (GRCm39)	F145I	probably damaging	Het
Unc80	A	C	1: 66,548,561 (GRCm39)	H611P	probably damaging	Het
Zfp1004	T	A	2: 150,034,989 (GRCm39)	C437S	probably damaging	Het
Zfp709	A	G	8: 72,643,891 (GRCm39)	E440G	probably damaging	Het
Zfp764	C	A	7: 127,004,214 (GRCm39)	A306S	probably benign	Het
Zfp949	T	A	9: 88,451,356 (GRCm39)	S309T	probably damaging	Het
Zswim4	T	C	8: 84,939,405 (GRCm39)	N826D	possibly 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
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'- TCTGCTGCGTCATGTTAGC -3'
(R):5'- TACTCATAGGGTAAGGGTGGGC -3'

Sequencing Primer
(F):5'- GTCATGTTAGCCAATGCACAGTCAG -3'
(R):5'- GGCATACCCTGATGGATCCAATG -3'

Posted On

2014-06-30