Mutagenetix > Incidental Mutation

Incidental Mutation 'R4072:Vwc2'

316351

Institutional Source

Beutler Lab

Gene Symbol

Vwc2

Ensembl Gene

ENSMUSG00000050830

Gene Name

von Willebrand factor C domain containing 2

Synonyms

A930041G11Rik, cradin, Brorin

MMRRC Submission

040854-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R4072 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11114223-11268931 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 11116446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 178 (L178Q)

Ref Sequence

ENSEMBL: ENSMUSP00000128761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056344] [ENSMUST00000109681] [ENSMUST00000129670]

AlphaFold

Q8C8N3

Predicted Effect

probably damaging
Transcript: ENSMUST00000056344
AA Change: L178Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000049692
Gene: ENSMUSG00000050830
AA Change: L178Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	89	107	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	132	143	N/A	INTRINSIC
VWC	154	210	7.52e-2	SMART
VWC	217	272	3.84e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109681
AA Change: L178Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105303
Gene: ENSMUSG00000050830
AA Change: L178Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	89	107	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	132	143	N/A	INTRINSIC
VWC	154	210	7.52e-2	SMART
VWC	217	272	3.84e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000129670
AA Change: L178Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000128761
Gene: ENSMUSG00000050830
AA Change: L178Q

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	89	107	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	132	143	N/A	INTRINSIC
VWC	154	210	7.52e-2	SMART
VWC	217	272	3.84e-6	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154155

Meta Mutation Damage Score

0.2253

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

98% (52/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,945,361		probably null	Het
Abcc5	A	G	16: 20,333,695	I1367T	probably damaging	Het
Acsm4	T	A	7: 119,698,758	L206H	probably benign	Het
Acss3	C	T	10: 107,123,585		probably benign	Het
Ankar	G	T	1: 72,688,592	D169E	probably damaging	Het
Arfgap3	C	T	15: 83,303,129	A510T	probably damaging	Het
Atp4a	T	C	7: 30,715,332	I182T	probably benign	Het
Axl	A	G	7: 25,763,911		probably benign	Het
Baz1a	A	G	12: 54,941,560	I268T	probably benign	Het
Baz2b	A	T	2: 59,912,573		probably null	Het
C2cd4d	C	A	3: 94,363,878	C150*	probably null	Het
Crtac1	T	C	19: 42,304,707	Y321C	probably damaging	Het
Dnah11	T	C	12: 118,106,492	H1526R	probably damaging	Het
Dnah5	A	T	15: 28,340,298	R2284*	probably null	Het
Dnah9	T	C	11: 66,084,904	T1440A	probably benign	Het
Eps15l1	A	G	8: 72,380,284	I482T	probably damaging	Het
Eqtn	A	G	4: 94,919,962	I201T	possibly damaging	Het
Ercc4	G	A	16: 13,130,685	V499I	probably damaging	Het
Eva1c	T	A	16: 90,904,131	F331Y	probably damaging	Het
Fcho1	T	C	8: 71,710,369	H672R	probably damaging	Het
Galntl5	A	T	5: 25,198,480	K150*	probably null	Het
Gm16427	A	T	5: 93,485,198	M50K	probably damaging	Het
Gm19965	A	G	1: 116,821,071	T161A	probably benign	Het
Gm5346	A	T	8: 43,626,350	F279Y	probably damaging	Het
Hydin	G	A	8: 110,505,256	E1617K	possibly damaging	Het
Krtap31-1	T	C	11: 99,908,232	I87T	possibly damaging	Het
Lamp3	A	G	16: 19,700,716	L239P	possibly damaging	Het
Nlrp4c	A	G	7: 6,072,710	K667E	probably benign	Het
Obox3	G	T	7: 15,625,799	T315N	possibly damaging	Het
Obscn	A	G	11: 58,997,183	I7652T	unknown	Het
Olfr1469	G	A	19: 13,410,935	R122H	possibly damaging	Het
Olfr52	T	A	2: 86,181,647	M155L	probably benign	Het
Olfr670	A	T	7: 104,960,716	N5K	probably damaging	Het
Pde7a	G	A	3: 19,256,853	R70C	probably damaging	Het
Pidd1	A	G	7: 141,440,826	F453L	probably damaging	Het
Pms2	T	C	5: 143,929,001	I742T	probably damaging	Het
Pot1a	T	C	6: 25,752,357		probably null	Het
Rp1l1	A	T	14: 64,028,132	E389V	probably damaging	Het
Scnn1a	A	G	6: 125,338,907	N407S	probably damaging	Het
Slc30a7	T	C	3: 115,946,680	D374G	probably damaging	Het
Slco2a1	T	A	9: 103,068,002	I192N	probably damaging	Het
Srp72	C	A	5: 76,998,251	T633K	probably benign	Het
Tm2d3	T	A	7: 65,697,750	L49*	probably null	Het
Tmprss11e	T	C	5: 86,715,643	T188A	possibly damaging	Het
Tox	T	C	4: 6,842,396	T45A	probably damaging	Het
Usp31	A	G	7: 121,667,782		probably null	Het
Zbbx	C	T	3: 75,105,671	G151E	probably damaging	Het
Zbtb11	C	T	16: 55,998,064	T617I	possibly damaging	Het

Other mutations in Vwc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02343:Vwc2	APN	11	11116532	missense	probably damaging	1.00
R1386:Vwc2	UTSW	11	11154262	missense	probably damaging	1.00
R1874:Vwc2	UTSW	11	11261495	missense	probably damaging	0.97
R4426:Vwc2	UTSW	11	11154235	missense	probably damaging	0.96
R4427:Vwc2	UTSW	11	11154235	missense	probably damaging	0.96
R5914:Vwc2	UTSW	11	11154244	missense	probably damaging	1.00
R6765:Vwc2	UTSW	11	11154215	missense	probably benign	0.21
R6927:Vwc2	UTSW	11	11154250	missense	probably damaging	1.00
R7623:Vwc2	UTSW	11	11116415	missense	probably damaging	0.99
R7734:Vwc2	UTSW	11	11115929	missense	possibly damaging	0.91
R9582:Vwc2	UTSW	11	11116129	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- TCTGTGCAGTCCGAGCATC -3'
(R):5'- TCAGAAGGTGCCAAGTCGC -3'

Sequencing Primer
(F):5'- AGAAGCTGGCCCAAGCTC -3'
(R):5'- TGCCAAGTCGCCAGCAG -3'

Posted On

2015-05-15