Mutagenetix > Incidental Mutation

Incidental Mutation 'R7286:Vwa2'

566064

Institutional Source

Beutler Lab

Gene Symbol

Vwa2

Ensembl Gene

ENSMUSG00000025082

Gene Name

von Willebrand factor A domain containing 2

Synonyms

Amaco

MMRRC Submission

045394-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56874249-56912078 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 56909359 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 699 (M699L)

Ref Sequence

ENSEMBL: ENSMUSP00000026068 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026068] [ENSMUST00000111584] [ENSMUST00000118800] [ENSMUST00000122359]

AlphaFold

Q70UZ7

Predicted Effect

probably benign
Transcript: ENSMUST00000026068
AA Change: M699L

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

SMART Domains

Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
AA Change: M699L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000111584

SMART Domains

Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083

Domain	Start	End	E-Value	Type
Blast:PH	30	153	3e-60	BLAST
low complexity region	160	170	N/A	INTRINSIC
PH	194	291	9.27e-9	SMART
PH	372	467	3.11e-10	SMART
low complexity region	531	543	N/A	INTRINSIC
low complexity region	611	626	N/A	INTRINSIC
coiled coil region	675	772	N/A	INTRINSIC
low complexity region	791	804	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118800

SMART Domains

Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083

Domain	Start	End	E-Value	Type
Blast:PH	12	135	3e-60	BLAST
low complexity region	142	152	N/A	INTRINSIC
PH	176	273	9.27e-9	SMART
PH	354	449	3.11e-10	SMART
low complexity region	513	525	N/A	INTRINSIC
low complexity region	593	608	N/A	INTRINSIC
coiled coil region	657	754	N/A	INTRINSIC
low complexity region	773	786	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122359

SMART Domains

Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083

Domain	Start	End	E-Value	Type
Blast:PH	1	79	3e-32	BLAST
low complexity region	86	96	N/A	INTRINSIC
PH	120	217	9.27e-9	SMART
PH	298	393	3.11e-10	SMART
low complexity region	457	469	N/A	INTRINSIC
low complexity region	537	552	N/A	INTRINSIC
coiled coil region	601	698	N/A	INTRINSIC
low complexity region	717	730	N/A	INTRINSIC

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 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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,622,479	C130S	probably benign	Het
4921501E09Rik	T	C	17: 33,065,527	D767G	probably benign	Het
4930550C14Rik	A	T	9: 53,423,017	M187L	possibly damaging	Het
9930012K11Rik	T	C	14: 70,157,237	E156G	possibly damaging	Het
Acad9	C	T	3: 36,075,990	A194V	probably damaging	Het
Agps	T	A	2: 75,852,784	V151E	probably benign	Het
Ak9	A	T	10: 41,407,371	I1273L		Het
Akr1c19	T	A	13: 4,246,819	L288Q	probably damaging	Het
Carmil1	T	G	13: 24,013,394	D1353A	probably damaging	Het
Ccz1	T	A	5: 144,013,079	I43F	probably damaging	Het
Cep70	G	A	9: 99,275,585	C179Y	probably damaging	Het
Comt	A	T	16: 18,410,690	L196H	probably damaging	Het
Cspg5	A	T	9: 110,246,955	D253V	probably damaging	Het
Dars2	A	G	1: 161,046,808	V437A	possibly damaging	Het
Dcaf5	A	G	12: 80,348,390	I335T	probably damaging	Het
Ddn	T	C	15: 98,806,025	K462R	possibly damaging	Het
Dscaml1	T	C	9: 45,742,746		probably null	Het
Ethe1	A	G	7: 24,607,952	Y197C	probably damaging	Het
Evc	A	T	5: 37,322,183	L269*	probably null	Het
Fam161a	T	C	11: 23,020,001	S60P	possibly damaging	Het
Fam20b	A	G	1: 156,681,442	V400A	probably benign	Het
Fam53b	T	A	7: 132,759,661	S213C	possibly damaging	Het
Flot2	A	G	11: 78,054,786	I45V	probably benign	Het
Gemin4	A	C	11: 76,212,753	L394R	probably damaging	Het
Glis2	T	G	16: 4,611,318	S128R	possibly damaging	Het
Gm3696	A	G	14: 7,089,808	Y92H	probably damaging	Het
Gm49333	T	C	16: 20,632,591	S325P	probably benign	Het
Gpbp1l1	T	C	4: 116,590,245	V374A	probably benign	Het
Grm1	T	C	10: 10,689,696	N956S	probably benign	Het
Hbb-bh1	T	C	7: 103,843,031	E27G	probably damaging	Het
Hmcn1	A	T	1: 150,582,337	C5233S	probably damaging	Het
Hmgcr	C	T	13: 96,666,597	C30Y	probably damaging	Het
Hoxb6	A	G	11: 96,292,825		probably benign	Het
Igf2	T	C	7: 142,655,818	Q35R	possibly damaging	Het
Ighv1-4	C	T	12: 114,487,321	V56I	probably benign	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lmtk2	C	T	5: 144,174,360	Q633*	probably null	Het
Mesd	T	C	7: 83,895,749	Y136H	probably damaging	Het
Mga	T	A	2: 119,964,788	S2984R	possibly damaging	Het
Mkrn3	T	C	7: 62,418,927	N372S	probably benign	Het
Mtpap	A	G	18: 4,387,068	I373V	probably benign	Het
Mycbp2	G	A	14: 103,120,591	T4589M	probably damaging	Het
Myh2	A	G	11: 67,188,369	Q921R	probably benign	Het
Myom1	A	G	17: 71,045,549	D324G	possibly damaging	Het
Nat10	T	C	2: 103,754,169	K88E	probably benign	Het
Ncapd3	A	G	9: 27,069,958	R915G	probably damaging	Het
Nek4	T	C	14: 30,957,292	Y190H	probably damaging	Het
Nfasc	A	C	1: 132,602,052	Y797D	probably damaging	Het
Ngp	A	G	9: 110,420,910	D92G	probably benign	Het
Nos2	A	C	11: 78,929,854	H95P	probably damaging	Het
Nr3c1	ACGTC	ACGTCGTC	18: 39,486,460		probably benign	Het
Olfr1129	C	T	2: 87,575,519	T145I	probably benign	Het
Olfr1350	C	A	7: 6,570,716	H242N	probably damaging	Het
Olfr141	A	T	2: 86,806,623	H125Q	possibly damaging	Het
Olfr498	T	C	7: 108,465,435	I37T	possibly damaging	Het
Otogl	T	A	10: 107,770,610	D2154V	probably benign	Het
Pdss1	T	A	2: 22,935,641		probably null	Het
Pex5	A	T	6: 124,398,063	L609*	probably null	Het
Pglyrp4	C	A	3: 90,732,974	A177D	probably damaging	Het
Phactr4	A	G	4: 132,377,178		probably null	Het
Pik3cd	G	C	4: 149,659,714	N193K	probably benign	Het
Prr36	TACCTCTTC	T	8: 4,215,163		probably benign	Het
Prss38	A	T	11: 59,375,558	W25R	probably benign	Het
Prss8	T	A	7: 127,926,884	Q189L	probably damaging	Het
Psd	T	A	19: 46,314,801	D713V	probably damaging	Het
Rad51ap2	C	T	12: 11,457,691	T538I	probably benign	Het
Rarres1	T	C	3: 67,515,184	T78A	probably benign	Het
Rbl2	G	T	8: 91,102,294	G651*	probably null	Het
Rev3l	A	T	10: 39,823,605	Q1366L	probably damaging	Het
Rundc1	T	C	11: 101,429,587	S215P	probably benign	Het
Scarf2	G	A	16: 17,802,973	W168*	probably null	Het
Sh2d7	A	G	9: 54,540,902	D69G	possibly damaging	Het
Slc26a4	A	T	12: 31,529,528	Y578*	probably null	Het
Slc2a9	A	T	5: 38,453,195	L87Q	probably damaging	Het
Slc39a10	A	T	1: 46,810,070	H795Q	probably damaging	Het
Spata13	C	T	14: 60,756,422	R1108W	probably damaging	Het
Sqle	T	C	15: 59,316,052	S70P	probably benign	Het
Syncrip	A	T	9: 88,464,663	F263I	probably damaging	Het
Synj2	T	C	17: 6,037,945	S1424P	possibly damaging	Het
Tax1bp3	A	T	11: 73,181,115	T89S	possibly damaging	Het
Tcaim	G	A	9: 122,819,027		probably null	Het
Tcp10c	T	C	17: 13,362,176	I240T	possibly damaging	Het
Ttll8	G	T	15: 88,917,239	N415K	probably benign	Het
Ugcg	T	C	4: 59,217,111	S212P	possibly damaging	Het
Vmn2r32	T	C	7: 7,479,808	K56E	probably benign	Het
Vmn2r55	T	C	7: 12,652,073	E660G	probably damaging	Het
Vmn2r7	T	C	3: 64,690,880	N752S	probably benign	Het
Vps54	T	A	11: 21,275,005	M167K	probably benign	Het
Wdr59	A	G	8: 111,465,862	V689A		Het
Whamm	T	G	7: 81,586,247	N399K	probably damaging	Het
Zcchc6	T	C	13: 59,821,649	E144G	probably benign	Het
Zfp760	A	G	17: 21,722,779	K312E	probably benign	Het
Zkscan3	C	A	13: 21,394,813	V171L	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
IGL02738:Vwa2	APN	19	56897929	missense	possibly damaging	0.62
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
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

Predicted Primers

PCR Primer
(F):5'- ACAAGGTGATGACGGTCCAG -3'
(R):5'- CATGGTCGGTAACACTGGAG -3'

Sequencing Primer
(F):5'- AAGGCCGTGGTGATGCTC -3'
(R):5'- TCGGTAACACTGGAGAAGTTTG -3'

Posted On

2019-06-26