Mutagenetix > Incidental Mutation

Incidental Mutation 'R6296:Col6a2'

508773

Institutional Source

Beutler Lab

Gene Symbol

Col6a2

Ensembl Gene

ENSMUSG00000020241

Gene Name

collagen, type VI, alpha 2

Synonyms

Col6a-2

MMRRC Submission

044407-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6296 (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 76446883 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 342 (N342D)

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: N342D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000001181
Gene: ENSMUSG00000020241
AA Change: N342D

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

possibly damaging
Transcript: ENSMUST00000105413
AA Change: N342D

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000101053
Gene: ENSMUSG00000020241
AA Change: N342D

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: 99.6%
20x: 98.6%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	C	11: 72,086,580 (GRCm39)	K277R	probably damaging	Het
Aatf	T	C	11: 84,363,926 (GRCm39)	Y267C	probably benign	Het
Adcy5	A	G	16: 35,124,080 (GRCm39)	Y1253C	probably damaging	Het
Adgra3	G	A	5: 50,118,189 (GRCm39)	P1120S	probably benign	Het
Adm	A	G	7: 110,227,561 (GRCm39)	T26A	probably benign	Het
Ahnak	T	G	19: 8,980,669 (GRCm39)	V651G	probably damaging	Het
Akr7a5	G	A	4: 139,045,532 (GRCm39)	V358I	probably benign	Het
Ankar	T	G	1: 72,682,417 (GRCm39)	T1383P	probably damaging	Het
Bpifb6	G	C	2: 153,748,812 (GRCm39)	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,575,684 (GRCm39)	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,629,675 (GRCm39)	T1249S	probably benign	Het
Cacna1h	G	A	17: 25,602,053 (GRCm39)	R1596C	probably damaging	Het
Cbll1	A	G	12: 31,537,507 (GRCm39)	V415A	probably benign	Het
Cd300lf	C	T	11: 115,015,195 (GRCm39)	V132I	probably benign	Het
Cfap54	T	C	10: 92,902,708 (GRCm39)	Y148C	probably damaging	Het
Coa5	A	G	1: 37,467,428 (GRCm39)	S60P	probably damaging	Het
Cyp2c29	T	G	19: 39,318,705 (GRCm39)	I434S	possibly damaging	Het
Ddx11	G	A	17: 66,457,724 (GRCm39)		probably null	Het
Dgke	C	T	11: 88,931,575 (GRCm39)	V560I	probably benign	Het
Dusp16	C	A	6: 134,697,456 (GRCm39)		probably null	Het
Enpp4	G	T	17: 44,413,371 (GRCm39)	N54K	probably benign	Het
Epn1	G	A	7: 5,093,122 (GRCm39)	A145T	probably damaging	Het
Erc2	A	T	14: 27,802,112 (GRCm39)	K764M	probably damaging	Het
Ercc6	G	T	14: 32,248,360 (GRCm39)	E304*	probably null	Het
Fam117a	T	A	11: 95,254,971 (GRCm39)	C115S	possibly damaging	Het
Galntl5	T	C	5: 25,391,163 (GRCm39)	S21P	probably benign	Het
Gm6358	T	C	16: 88,937,970 (GRCm39)	S70P	unknown	Het
Grip1	C	T	10: 119,911,369 (GRCm39)	Q696*	probably null	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hsfy2	T	A	1: 56,676,351 (GRCm39)	H62L	probably benign	Het
Ighm	T	C	12: 113,385,187 (GRCm39)	I258V	unknown	Het
Igkv13-71-1	G	T	6: 69,212,783 (GRCm39)		noncoding transcript	Het
Inava	C	T	1: 136,148,809 (GRCm39)		probably null	Het
Irx1	A	C	13: 72,107,787 (GRCm39)	S298R	probably damaging	Het
Jarid2	T	A	13: 45,056,539 (GRCm39)	Y443N	possibly damaging	Het
Kcnc1	G	A	7: 46,084,740 (GRCm39)	A555T	probably benign	Het
Krtap4-6	T	A	11: 99,556,245 (GRCm39)	R161*	probably null	Het
Lipo3	T	C	19: 33,757,737 (GRCm39)	D244G	probably benign	Het
Lmo2	T	G	2: 103,800,946 (GRCm39)	V39G	possibly damaging	Het
Lrch2	C	T	X: 146,263,553 (GRCm39)	A369T	probably damaging	Homo
Macf1	A	T	4: 123,326,668 (GRCm39)	I4943N	probably damaging	Het
Mkx	A	T	18: 7,000,591 (GRCm39)		probably null	Het
Nek1	C	T	8: 61,525,343 (GRCm39)	Q594*	probably null	Het
Nipbl	T	C	15: 8,330,379 (GRCm39)	M2349V	possibly damaging	Het
Nup155	T	A	15: 8,182,639 (GRCm39)	C1201S	probably damaging	Het
Or2y8	C	A	11: 52,035,423 (GRCm39)	R311S	probably benign	Het
Or4a76	G	A	2: 89,460,975 (GRCm39)	T89I	probably damaging	Het
Or5ac25	T	C	16: 59,181,769 (GRCm39)	K271E	probably benign	Het
Osbpl1a	A	G	18: 12,952,560 (GRCm39)		probably null	Het
Pbx1	T	C	1: 168,011,184 (GRCm39)	D372G	possibly damaging	Het
Pikfyve	T	A	1: 65,302,112 (GRCm39)	S1668T	probably damaging	Het
Pitpnc1	T	C	11: 107,117,092 (GRCm39)	H193R	probably damaging	Het
Plag1	G	T	4: 3,904,499 (GRCm39)	H231N	probably damaging	Het
Prmt8	A	G	6: 127,688,767 (GRCm39)	I201T	probably damaging	Het
Ptpn23	A	T	9: 110,222,894 (GRCm39)	N54K	probably damaging	Het
Rab11fip4	T	C	11: 79,581,655 (GRCm39)		probably null	Het
Rassf9	T	A	10: 102,381,614 (GRCm39)	I332N	probably damaging	Het
Rgs9	T	C	11: 109,159,813 (GRCm39)	N173S	probably benign	Het
Rhbdl1	A	G	17: 26,053,943 (GRCm39)	L309P	probably damaging	Het
Rnf214	A	G	9: 45,779,119 (GRCm39)	S389P	probably benign	Het
Rxfp1	A	C	3: 79,575,155 (GRCm39)	L181R	probably damaging	Het
Sfxn1	C	T	13: 54,247,899 (GRCm39)	T208I	probably benign	Het
Sgo2b	C	T	8: 64,380,827 (GRCm39)	M668I	probably benign	Het
Sh3bp4	C	A	1: 89,073,211 (GRCm39)	S686R	probably damaging	Het
Spata31d1d	G	A	13: 59,876,278 (GRCm39)	T419I	possibly damaging	Het
Spata31d1e	T	C	13: 59,890,497 (GRCm39)	D441G	probably benign	Het
Spink5	T	C	18: 44,147,824 (GRCm39)	S857P	probably damaging	Het
Stard13	A	T	5: 150,986,138 (GRCm39)	S339R	probably damaging	Het
Stk35	T	A	2: 129,652,808 (GRCm39)	Y436*	probably null	Het
Supt6	C	T	11: 78,116,885 (GRCm39)	R589Q	possibly damaging	Het
Tinag	T	A	9: 76,904,217 (GRCm39)	E402V	possibly damaging	Het
Tmem183a	T	C	1: 134,289,349 (GRCm39)	D27G	probably damaging	Het
Tnfrsf13c	T	C	15: 82,108,103 (GRCm39)	T56A	probably damaging	Het
Tnrc18	A	C	5: 142,719,331 (GRCm39)	L1985R	unknown	Het
Ttn	G	A	2: 76,579,673 (GRCm39)	T23740M	probably damaging	Het
Ufl1	G	T	4: 25,270,572 (GRCm39)	Q215K	probably benign	Het
Unkl	T	C	17: 25,450,839 (GRCm39)	*232R	probably null	Het
Wnk4	A	T	11: 101,164,824 (GRCm39)	N718Y	probably damaging	Het
Xkr4	T	C	1: 3,286,793 (GRCm39)	T466A	probably benign	Het
Zfp451	T	A	1: 33,808,898 (GRCm39)	K988*	probably null	Het
Zfp503	G	C	14: 22,035,868 (GRCm39)	Y349*	probably null	Het
Zfp990	T	A	4: 145,264,673 (GRCm39)	F557Y	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
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
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'- GAAGGCGAGATGATTCTCCC -3'
(R):5'- TGCTTGGGACCTCAACCAAC -3'

Sequencing Primer
(F):5'- TGGAGACAGAATCCTAGGACC -3'
(R):5'- TTGGGACCTCAACCAACACTTTG -3'

Posted On

2018-04-02