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

56862848-56900510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 56897791 bp (GRCm39)

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
4930550C14Rik	A	T	9: 53,334,317 (GRCm39)	M187L	possibly damaging	Het
9930012K11Rik	T	C	14: 70,394,686 (GRCm39)	E156G	possibly damaging	Het
Acad9	C	T	3: 36,130,139 (GRCm39)	A194V	probably damaging	Het
Agps	T	A	2: 75,683,128 (GRCm39)	V151E	probably benign	Het
Ak9	A	T	10: 41,283,367 (GRCm39)	I1273L		Het
Akr1c19	T	A	13: 4,296,818 (GRCm39)	L288Q	probably damaging	Het
Carmil1	T	G	13: 24,197,377 (GRCm39)	D1353A	probably damaging	Het
Ccz1	T	A	5: 143,949,897 (GRCm39)	I43F	probably damaging	Het
Cep70	G	A	9: 99,157,638 (GRCm39)	C179Y	probably damaging	Het
Comt	A	T	16: 18,229,440 (GRCm39)	L196H	probably damaging	Het
Cspg5	A	T	9: 110,076,023 (GRCm39)	D253V	probably damaging	Het
Dars2	A	G	1: 160,874,378 (GRCm39)	V437A	possibly damaging	Het
Dcaf5	A	G	12: 80,395,164 (GRCm39)	I335T	probably damaging	Het
Ddn	T	C	15: 98,703,906 (GRCm39)	K462R	possibly damaging	Het
Dscaml1	T	C	9: 45,654,044 (GRCm39)		probably null	Het
Eef1ece2	T	C	16: 20,451,341 (GRCm39)	S325P	probably benign	Het
Ethe1	A	G	7: 24,307,377 (GRCm39)	Y197C	probably damaging	Het
Evc	A	T	5: 37,479,527 (GRCm39)	L269*	probably null	Het
Fam161a	T	C	11: 22,970,001 (GRCm39)	S60P	possibly damaging	Het
Fam20b	A	G	1: 156,509,012 (GRCm39)	V400A	probably benign	Het
Fam53b	T	A	7: 132,361,390 (GRCm39)	S213C	possibly damaging	Het
Flot2	A	G	11: 77,945,612 (GRCm39)	I45V	probably benign	Het
Gemin4	A	C	11: 76,103,579 (GRCm39)	L394R	probably damaging	Het
Glis2	T	G	16: 4,429,182 (GRCm39)	S128R	possibly damaging	Het
Gm3696	A	G	14: 18,435,009 (GRCm39)	Y92H	probably damaging	Het
Gpbp1l1	T	C	4: 116,447,442 (GRCm39)	V374A	probably benign	Het
Grm1	T	C	10: 10,565,440 (GRCm39)	N956S	probably benign	Het
Hbb-bh1	T	C	7: 103,492,238 (GRCm39)	E27G	probably damaging	Het
Hmcn1	A	T	1: 150,458,088 (GRCm39)	C5233S	probably damaging	Het
Hmgcr	C	T	13: 96,803,105 (GRCm39)	C30Y	probably damaging	Het
Hoxb6	A	G	11: 96,183,651 (GRCm39)		probably benign	Het
Igf2	T	C	7: 142,209,555 (GRCm39)	Q35R	possibly damaging	Het
Ighv1-4	C	T	12: 114,450,941 (GRCm39)	V56I	probably benign	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Lmtk2	C	T	5: 144,111,178 (GRCm39)	Q633*	probably null	Het
Mesd	T	C	7: 83,544,957 (GRCm39)	Y136H	probably damaging	Het
Mga	T	A	2: 119,795,269 (GRCm39)	S2984R	possibly damaging	Het
Mkrn3	T	C	7: 62,068,675 (GRCm39)	N372S	probably benign	Het
Mtpap	A	G	18: 4,387,068 (GRCm39)	I373V	probably benign	Het
Mycbp2	G	A	14: 103,358,027 (GRCm39)	T4589M	probably damaging	Het
Myh2	A	G	11: 67,079,195 (GRCm39)	Q921R	probably benign	Het
Myom1	A	G	17: 71,352,544 (GRCm39)	D324G	possibly damaging	Het
Nat10	T	C	2: 103,584,514 (GRCm39)	K88E	probably benign	Het
Ncapd3	A	G	9: 26,981,254 (GRCm39)	R915G	probably damaging	Het
Nek4	T	C	14: 30,679,249 (GRCm39)	Y190H	probably damaging	Het
Nfasc	A	C	1: 132,529,790 (GRCm39)	Y797D	probably damaging	Het
Ngp	A	G	9: 110,249,978 (GRCm39)	D92G	probably benign	Het
Nos2	A	C	11: 78,820,680 (GRCm39)	H95P	probably damaging	Het
Nr3c1	ACGTC	ACGTCGTC	18: 39,619,513 (GRCm39)		probably benign	Het
Or10ag59	C	T	2: 87,405,863 (GRCm39)	T145I	probably benign	Het
Or5bw2	C	A	7: 6,573,715 (GRCm39)	H242N	probably damaging	Het
Or5p73	T	C	7: 108,064,642 (GRCm39)	I37T	possibly damaging	Het
Or5t18	A	T	2: 86,636,967 (GRCm39)	H125Q	possibly damaging	Het
Otogl	T	A	10: 107,606,471 (GRCm39)	D2154V	probably benign	Het
Pdss1	T	A	2: 22,825,653 (GRCm39)		probably null	Het
Pex5	A	T	6: 124,375,022 (GRCm39)	L609*	probably null	Het
Pglyrp4	C	A	3: 90,640,281 (GRCm39)	A177D	probably damaging	Het
Phactr4	A	G	4: 132,104,489 (GRCm39)		probably null	Het
Phf8-ps	T	C	17: 33,284,501 (GRCm39)	D767G	probably benign	Het
Pik3cd	G	C	4: 149,744,171 (GRCm39)	N193K	probably benign	Het
Prr36	TACCTCTTC	T	8: 4,265,163 (GRCm39)		probably benign	Het
Prss38	A	T	11: 59,266,384 (GRCm39)	W25R	probably benign	Het
Prss8	T	A	7: 127,526,056 (GRCm39)	Q189L	probably damaging	Het
Psd	T	A	19: 46,303,240 (GRCm39)	D713V	probably damaging	Het
Rad51ap2	C	T	12: 11,507,692 (GRCm39)	T538I	probably benign	Het
Rarres1	T	C	3: 67,422,517 (GRCm39)	T78A	probably benign	Het
Rbl2	G	T	8: 91,828,922 (GRCm39)	G651*	probably null	Het
Rev3l	A	T	10: 39,699,601 (GRCm39)	Q1366L	probably damaging	Het
Rundc1	T	C	11: 101,320,413 (GRCm39)	S215P	probably benign	Het
Sanbr	A	T	11: 23,572,479 (GRCm39)	C130S	probably benign	Het
Scarf2	G	A	16: 17,620,837 (GRCm39)	W168*	probably null	Het
Sh2d7	A	G	9: 54,448,186 (GRCm39)	D69G	possibly damaging	Het
Slc26a4	A	T	12: 31,579,527 (GRCm39)	Y578*	probably null	Het
Slc2a9	A	T	5: 38,610,538 (GRCm39)	L87Q	probably damaging	Het
Slc39a10	A	T	1: 46,849,230 (GRCm39)	H795Q	probably damaging	Het
Spata13	C	T	14: 60,993,871 (GRCm39)	R1108W	probably damaging	Het
Sqle	T	C	15: 59,187,901 (GRCm39)	S70P	probably benign	Het
Syncrip	A	T	9: 88,346,716 (GRCm39)	F263I	probably damaging	Het
Synj2	T	C	17: 6,088,220 (GRCm39)	S1424P	possibly damaging	Het
Tax1bp3	A	T	11: 73,071,941 (GRCm39)	T89S	possibly damaging	Het
Tcaim	G	A	9: 122,648,092 (GRCm39)		probably null	Het
Tcp10c	T	C	17: 13,582,438 (GRCm39)	I240T	possibly damaging	Het
Ttll8	G	T	15: 88,801,442 (GRCm39)	N415K	probably benign	Het
Tut7	T	C	13: 59,969,463 (GRCm39)	E144G	probably benign	Het
Ugcg	T	C	4: 59,217,111 (GRCm39)	S212P	possibly damaging	Het
Vmn2r32	T	C	7: 7,482,807 (GRCm39)	K56E	probably benign	Het
Vmn2r55	T	C	7: 12,386,000 (GRCm39)	E660G	probably damaging	Het
Vmn2r7	T	C	3: 64,598,301 (GRCm39)	N752S	probably benign	Het
Vps54	T	A	11: 21,225,005 (GRCm39)	M167K	probably benign	Het
Wdr59	A	G	8: 112,192,494 (GRCm39)	V689A		Het
Whamm	T	G	7: 81,235,995 (GRCm39)	N399K	probably damaging	Het
Zfp760	A	G	17: 21,941,760 (GRCm39)	K312E	probably benign	Het
Zkscan3	C	A	13: 21,578,983 (GRCm39)	V171L	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
IGL02738:Vwa2	APN	19	56,886,361 (GRCm39)	missense	possibly damaging	0.62
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
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

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