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

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02738

Quality Score

Status

Chromosome

Chromosomal Location

56862848-56900510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56886361 bp (GRCm39)

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: 150,466,792 (GRCm39)		probably benign	Het
Akr1c21	A	T	13: 4,630,300 (GRCm39)	N198Y	probably damaging	Het
Anapc11	A	T	11: 120,490,102 (GRCm39)	K6I	probably benign	Het
Angel1	G	A	12: 86,752,060 (GRCm39)	L554F	probably benign	Het
Arhgap11a	A	T	2: 113,663,320 (GRCm39)	*988K	probably null	Het
Arnt	T	A	3: 95,402,631 (GRCm39)		probably null	Het
Atp1a3	T	A	7: 24,689,901 (GRCm39)	D519V	possibly damaging	Het
Bdp1	C	A	13: 100,187,861 (GRCm39)	A1575S	probably benign	Het
Bglap	G	A	3: 88,291,715 (GRCm39)	T3I	unknown	Het
Brca2	C	T	5: 150,490,500 (GRCm39)	P3054L	probably damaging	Het
Btn2a2	C	A	13: 23,662,976 (GRCm39)	E316*	probably null	Het
C1qtnf9	C	T	14: 61,017,388 (GRCm39)	T306I	probably benign	Het
Caprin2	T	C	6: 148,744,360 (GRCm39)	T1022A	probably damaging	Het
Cd109	T	C	9: 78,598,581 (GRCm39)	Y940H	probably damaging	Het
Cd300ld	A	G	11: 114,875,076 (GRCm39)	L186S	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Chd6	A	T	2: 160,807,618 (GRCm39)	S1865R	probably benign	Het
Chrna2	T	C	14: 66,386,889 (GRCm39)	V345A	probably benign	Het
Dnah1	T	G	14: 31,014,597 (GRCm39)	E1756A	probably benign	Het
Dnah3	C	T	7: 119,564,720 (GRCm39)	A2637T	probably benign	Het
Ern2	A	G	7: 121,782,122 (GRCm39)	F80S	probably damaging	Het
Ero1b	A	G	13: 12,619,322 (GRCm39)	I439V	possibly damaging	Het
Eva1a	T	G	6: 82,048,211 (GRCm39)	S30A	probably benign	Het
Fer1l4	A	G	2: 155,887,648 (GRCm39)	L516P	probably benign	Het
Garin2	T	A	12: 78,780,989 (GRCm39)		probably benign	Het
Hexim2	T	C	11: 103,029,103 (GRCm39)	S52P	probably damaging	Het
Hoxb9	A	T	11: 96,165,554 (GRCm39)	M208L	possibly damaging	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lcn10	G	A	2: 25,574,032 (GRCm39)		probably benign	Het
Letm2	A	G	8: 26,076,789 (GRCm39)	I271T	probably damaging	Het
Lrrc34	T	C	3: 30,685,441 (GRCm39)	S303G	possibly damaging	Het
Matn2	C	A	15: 34,388,885 (GRCm39)	A325D	probably benign	Het
Mboat4	T	C	8: 34,582,258 (GRCm39)	L4P	probably damaging	Het
Mmp1a	T	A	9: 7,464,301 (GRCm39)		probably benign	Het
Naip2	T	A	13: 100,325,685 (GRCm39)	R74S	probably benign	Het
Neb	G	T	2: 52,133,862 (GRCm39)	Q3374K	probably damaging	Het
Nup210l	A	G	3: 90,044,157 (GRCm39)	E486G	possibly damaging	Het
Or4b13	A	G	2: 90,082,699 (GRCm39)	I211T	possibly damaging	Het
Or4k51	A	C	2: 111,584,699 (GRCm39)	Y35S	probably damaging	Het
Or5m12	A	G	2: 85,735,293 (GRCm39)	V35A	probably benign	Het
Or6c69	A	T	10: 129,747,200 (GRCm39)		probably benign	Het
Pde8a	A	C	7: 80,976,090 (GRCm39)	N677H	probably damaging	Het
Plag1	G	A	4: 3,903,812 (GRCm39)	Q460*	probably null	Het
Podnl1	A	G	8: 84,858,824 (GRCm39)	T550A	probably benign	Het
Ptpn22	A	G	3: 103,781,382 (GRCm39)		probably benign	Het
Pycr3	A	T	15: 75,790,565 (GRCm39)	I98N	probably damaging	Het
Rtn4r	A	G	16: 17,969,052 (GRCm39)	Y160C	probably damaging	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc2a4	A	G	11: 69,836,940 (GRCm39)	Y43H	probably damaging	Het
Sorbs1	A	T	19: 40,365,348 (GRCm39)	L145Q	probably damaging	Het
Speer2	A	T	16: 69,658,600 (GRCm39)	S22T	probably benign	Het
Sugp2	G	T	8: 70,696,449 (GRCm39)	G474V	probably damaging	Het
Syt3	C	T	7: 44,035,447 (GRCm39)	S18L	possibly damaging	Het
Tacc1	T	C	8: 25,691,159 (GRCm39)	E48G	probably damaging	Het
Tdrd6	A	G	17: 43,931,337 (GRCm39)	V2083A	probably benign	Het
Thra	A	T	11: 98,655,185 (GRCm39)	H355L	probably benign	Het
Tmem35b	C	T	4: 127,019,981 (GRCm39)	Q34*	probably null	Het
Unk	G	T	11: 115,947,017 (GRCm39)	G537V	probably damaging	Het
Usp32	T	A	11: 84,974,632 (GRCm39)	D92V	probably damaging	Het
Vmn1r209	G	T	13: 22,990,290 (GRCm39)	Y133*	probably null	Het
Vmn1r42	A	G	6: 89,821,630 (GRCm39)	V313A	possibly damaging	Het
Vnn1	A	G	10: 23,780,520 (GRCm39)	I503V	probably benign	Het

Other mutations in Vwa2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01147:Vwa2	APN	19	56,890,066 (GRCm39)	missense	probably damaging	0.98
IGL02081:Vwa2	APN	19	56,890,668 (GRCm39)	missense	probably benign	0.00
H8786:Vwa2	UTSW	19	56,898,164 (GRCm39)	missense	possibly damaging	0.90
R0510:Vwa2	UTSW	19	56,886,500 (GRCm39)	splice site	probably benign
R1061:Vwa2	UTSW	19	56,897,426 (GRCm39)	missense	probably benign	0.35
R1350:Vwa2	UTSW	19	56,897,558 (GRCm39)	missense	probably damaging	1.00
R1403:Vwa2	UTSW	19	56,869,570 (GRCm39)	missense	unknown
R1403:Vwa2	UTSW	19	56,869,570 (GRCm39)	missense	unknown
R1918:Vwa2	UTSW	19	56,897,366 (GRCm39)	missense	probably benign	0.07
R2046:Vwa2	UTSW	19	56,894,010 (GRCm39)	missense	probably benign	0.08
R3943:Vwa2	UTSW	19	56,897,747 (GRCm39)	missense	probably damaging	1.00
R4278:Vwa2	UTSW	19	56,891,915 (GRCm39)	missense	probably benign	0.00
R4745:Vwa2	UTSW	19	56,895,318 (GRCm39)	missense	probably benign
R5081:Vwa2	UTSW	19	56,897,752 (GRCm39)	missense	probably damaging	1.00
R5750:Vwa2	UTSW	19	56,897,663 (GRCm39)	missense	probably benign	0.00
R5959:Vwa2	UTSW	19	56,869,604 (GRCm39)	missense	possibly damaging	0.96
R6151:Vwa2	UTSW	19	56,891,897 (GRCm39)	critical splice acceptor site	probably null
R6361:Vwa2	UTSW	19	56,889,958 (GRCm39)	critical splice acceptor site	probably null
R6861:Vwa2	UTSW	19	56,890,025 (GRCm39)	missense	probably benign	0.03
R7286:Vwa2	UTSW	19	56,897,791 (GRCm39)	missense	probably benign
R7653:Vwa2	UTSW	19	56,897,767 (GRCm39)	missense	probably benign	0.00
R7752:Vwa2	UTSW	19	56,897,672 (GRCm39)	missense	probably damaging	1.00
R8038:Vwa2	UTSW	19	56,886,320 (GRCm39)	missense	probably benign	0.43
R8501:Vwa2	UTSW	19	56,897,414 (GRCm39)	missense	probably benign	0.24
R8674:Vwa2	UTSW	19	56,875,427 (GRCm39)	missense	possibly damaging	0.71
R9167:Vwa2	UTSW	19	56,899,063 (GRCm39)	missense	probably benign	0.07
R9460:Vwa2	UTSW	19	56,886,388 (GRCm39)	missense	probably benign	0.00
R9526:Vwa2	UTSW	19	56,895,208 (GRCm39)	missense	probably benign	0.18
X0020:Vwa2	UTSW	19	56,897,633 (GRCm39)	missense	probably damaging	1.00
X0066:Vwa2	UTSW	19	56,875,417 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16