Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02738:Vwa2'

305768

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Vwa2

Ensembl Gene

ENSMUSG00000025082

Gene Name

von Willebrand factor A domain containing 2

Synonyms

Amaco

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02738

Quality Score

Status

Chromosome

Chromosomal Location

56874249-56912078 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56897929 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Arginine at position 143 (G143R)

Ref Sequence

ENSEMBL: ENSMUSP00000026068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026068]

AlphaFold

Q70UZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026068
AA Change: G143R

PolyPhen 2 Score 0.624 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
AA Change: G143R

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
VWA	49	222	6.9e-35	SMART
EGF	297	332	2.99e-4	SMART
VWA	340	517	1.26e-28	SMART
VWA	528	705	1.55e-37	SMART
EGF	714	747	5e-6	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the von Willebrand factor A-like domain protein superfamily. The encoded protein is localized to the extracellular matrix and may serve as a structural component in basement membranes or in anchoring structures on scaffolds of collagen VII or fibrillin. This gene has been linked to type 1A diabetes and is a candidate serological marker for colon cancer. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	A	T	2: 150,624,872		probably benign	Het
Akr1c21	A	T	13: 4,580,301	N198Y	probably damaging	Het
Anapc11	A	T	11: 120,599,276	K6I	probably benign	Het
Angel1	G	A	12: 86,705,286	L554F	probably benign	Het
Arhgap11a	A	T	2: 113,832,975	*988K	probably null	Het
Arnt	T	A	3: 95,495,320		probably null	Het
Atp1a3	T	A	7: 24,990,476	D519V	possibly damaging	Het
Bdp1	C	A	13: 100,051,353	A1575S	probably benign	Het
Bglap	G	A	3: 88,384,408	T3I	unknown	Het
Brca2	C	T	5: 150,567,035	P3054L	probably damaging	Het
Btn2a2	C	A	13: 23,478,806	E316*	probably null	Het
C1qtnf9	C	T	14: 60,779,939	T306I	probably benign	Het
Caprin2	T	C	6: 148,842,862	T1022A	probably damaging	Het
Cd109	T	C	9: 78,691,299	Y940H	probably damaging	Het
Cd300ld	A	G	11: 114,984,250	L186S	probably benign	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Chd6	A	T	2: 160,965,698	S1865R	probably benign	Het
Chrna2	T	C	14: 66,149,440	V345A	probably benign	Het
Dnah1	T	G	14: 31,292,640	E1756A	probably benign	Het
Dnah3	C	T	7: 119,965,497	A2637T	probably benign	Het
Ern2	A	G	7: 122,182,899	F80S	probably damaging	Het
Ero1lb	A	G	13: 12,604,433	I439V	possibly damaging	Het
Eva1a	T	G	6: 82,071,230	S30A	probably benign	Het
Fam71d	T	A	12: 78,734,215		probably benign	Het
Fer1l4	A	G	2: 156,045,728	L516P	probably benign	Het
Hexim2	T	C	11: 103,138,277	S52P	probably damaging	Het
Hoxb9	A	T	11: 96,274,728	M208L	possibly damaging	Het
Lbr	A	G	1: 181,832,213	V139A	probably benign	Het
Lcn10	G	A	2: 25,684,020		probably benign	Het
Letm2	A	G	8: 25,586,773	I271T	probably damaging	Het
Lrrc34	T	C	3: 30,631,292	S303G	possibly damaging	Het
Matn2	C	A	15: 34,388,739	A325D	probably benign	Het
Mboat4	T	C	8: 34,115,104	L4P	probably damaging	Het
Mmp1a	T	A	9: 7,464,301		probably benign	Het
Naip2	T	A	13: 100,189,177	R74S	probably benign	Het
Neb	G	T	2: 52,243,850	Q3374K	probably damaging	Het
Nup210l	A	G	3: 90,136,850	E486G	possibly damaging	Het
Olfr1024	A	G	2: 85,904,949	V35A	probably benign	Het
Olfr1301	A	C	2: 111,754,354	Y35S	probably damaging	Het
Olfr142	A	G	2: 90,252,355	I211T	possibly damaging	Het
Olfr816	A	T	10: 129,911,331		probably benign	Het
Pde8a	A	C	7: 81,326,342	N677H	probably damaging	Het
Plag1	G	A	4: 3,903,812	Q460*	probably null	Het
Podnl1	A	G	8: 84,132,195	T550A	probably benign	Het
Ptpn22	A	G	3: 103,874,066		probably benign	Het
Pycrl	A	T	15: 75,918,716	I98N	probably damaging	Het
Rtn4r	A	G	16: 18,151,188	Y160C	probably damaging	Het
Slc27a4	A	G	2: 29,811,226	N343S	probably benign	Het
Slc2a4	A	G	11: 69,946,114	Y43H	probably damaging	Het
Sorbs1	A	T	19: 40,376,904	L145Q	probably damaging	Het
Speer2	A	T	16: 69,861,712	S22T	probably benign	Het
Sugp2	G	T	8: 70,243,799	G474V	probably damaging	Het
Syt3	C	T	7: 44,386,023	S18L	possibly damaging	Het
Tacc1	T	C	8: 25,201,143	E48G	probably damaging	Het
Tdrd6	A	G	17: 43,620,446	V2083A	probably benign	Het
Thra	A	T	11: 98,764,359	H355L	probably benign	Het
Tmem35b	C	T	4: 127,126,188	Q34*	probably null	Het
Unk	G	T	11: 116,056,191	G537V	probably damaging	Het
Usp32	T	A	11: 85,083,806	D92V	probably damaging	Het
Vmn1r209	G	T	13: 22,806,120	Y133*	probably null	Het
Vmn1r42	A	G	6: 89,844,648	V313A	possibly damaging	Het
Vnn1	A	G	10: 23,904,622	I503V	probably benign	Het

Other mutations in Vwa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Vwa2	APN	19	56901634	missense	probably damaging	0.98
IGL02081:Vwa2	APN	19	56902236	missense	probably benign	0.00
H8786:Vwa2	UTSW	19	56909732	missense	possibly damaging	0.90
R0510:Vwa2	UTSW	19	56898068	splice site	probably benign
R1061:Vwa2	UTSW	19	56908994	missense	probably benign	0.35
R1350:Vwa2	UTSW	19	56909126	missense	probably damaging	1.00
R1403:Vwa2	UTSW	19	56881138	missense	unknown
R1403:Vwa2	UTSW	19	56881138	missense	unknown
R1918:Vwa2	UTSW	19	56908934	missense	probably benign	0.07
R2046:Vwa2	UTSW	19	56905578	missense	probably benign	0.08
R3943:Vwa2	UTSW	19	56909315	missense	probably damaging	1.00
R4278:Vwa2	UTSW	19	56903483	missense	probably benign	0.00
R4745:Vwa2	UTSW	19	56906886	missense	probably benign
R5081:Vwa2	UTSW	19	56909320	missense	probably damaging	1.00
R5750:Vwa2	UTSW	19	56909231	missense	probably benign	0.00
R5959:Vwa2	UTSW	19	56881172	missense	possibly damaging	0.96
R6151:Vwa2	UTSW	19	56903465	critical splice acceptor site	probably null
R6361:Vwa2	UTSW	19	56901526	critical splice acceptor site	probably null
R6861:Vwa2	UTSW	19	56901593	missense	probably benign	0.03
R7286:Vwa2	UTSW	19	56909359	missense	probably benign
R7653:Vwa2	UTSW	19	56909335	missense	probably benign	0.00
R7752:Vwa2	UTSW	19	56909240	missense	probably damaging	1.00
R8038:Vwa2	UTSW	19	56897888	missense	probably benign	0.43
R8501:Vwa2	UTSW	19	56908982	missense	probably benign	0.24
R8674:Vwa2	UTSW	19	56886995	missense	possibly damaging	0.71
R9167:Vwa2	UTSW	19	56910631	missense	probably benign	0.07
R9460:Vwa2	UTSW	19	56897956	missense	probably benign	0.00
R9526:Vwa2	UTSW	19	56906776	missense	probably benign	0.18
X0020:Vwa2	UTSW	19	56909201	missense	probably damaging	1.00
X0066:Vwa2	UTSW	19	56886985	missense	probably damaging	0.96

Posted On

2015-04-16