Mutagenetix > Incidental Mutation

Incidental Mutation 'R7653:Vwa2'

580522

Institutional Source

Beutler Lab

Gene Symbol

Vwa2

Ensembl Gene

ENSMUSG00000025082

Gene Name

von Willebrand factor A domain containing 2

Synonyms

Amaco

MMRRC Submission

045730-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7653 (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 T at 56897767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 691 (T691S)

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: T691S

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
AA Change: T691S

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: 98.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A730049H05Rik	A	T	6: 92,805,050 (GRCm39)	Q70L	unknown	Het
Adamts12	T	A	15: 11,257,115 (GRCm39)	N489K	probably benign	Het
Alms1	A	G	6: 85,597,577 (GRCm39)	D801G	possibly damaging	Het
Apex1	T	G	14: 51,163,995 (GRCm39)	N173K	probably damaging	Het
Arhgap32	A	T	9: 32,168,441 (GRCm39)	N808I	probably benign	Het
Arhgef28	T	C	13: 98,105,821 (GRCm39)	Y706C	probably benign	Het
Atg2b	A	T	12: 105,602,731 (GRCm39)	F1604Y	possibly damaging	Het
Atm	A	T	9: 53,401,602 (GRCm39)	Y1422*	probably null	Het
Bace2	T	A	16: 97,237,852 (GRCm39)	V38E		Het
Birc6	C	A	17: 74,954,729 (GRCm39)	L3442I	possibly damaging	Het
C6	T	A	15: 4,844,244 (GRCm39)	S889T		Het
Calcrl	A	T	2: 84,175,529 (GRCm39)	L275*	probably null	Het
Casp6	T	C	3: 129,705,872 (GRCm39)	Y180H	probably benign	Het
Cd5	T	C	19: 10,703,910 (GRCm39)	M51V	probably benign	Het
Cdhr1	G	T	14: 36,804,158 (GRCm39)	P500Q	probably benign	Het
Celsr3	G	A	9: 108,712,269 (GRCm39)	W1732*	probably null	Het
Ces2g	T	C	8: 105,689,285 (GRCm39)	V87A	probably damaging	Het
Chil6	T	C	3: 106,301,641 (GRCm39)	N153S	possibly damaging	Het
Chrna5	A	T	9: 54,909,718 (GRCm39)	D113V	probably benign	Het
Cimip2b	T	G	4: 43,427,273 (GRCm39)		probably null	Het
Cox20	A	G	1: 178,150,164 (GRCm39)	T113A	probably benign	Het
Cryl1	T	C	14: 57,541,148 (GRCm39)	I179V	probably benign	Het
Dennd3	A	G	15: 73,434,275 (GRCm39)	T982A	probably damaging	Het
Drosha	G	A	15: 12,859,522 (GRCm39)	V577I	probably benign	Het
Dync2h1	A	G	9: 7,117,570 (GRCm39)	S2240P	probably benign	Het
Eif1ad14	T	A	12: 87,886,248 (GRCm39)	D127V	unknown	Het
Fbxl5	C	T	5: 43,916,116 (GRCm39)	S432N	probably benign	Het
Fez1	T	A	9: 36,772,146 (GRCm39)	S150R	probably benign	Het
Gabrb2	T	G	11: 42,378,039 (GRCm39)	M85R	probably damaging	Het
Lhx4	A	G	1: 155,580,617 (GRCm39)	V203A	probably damaging	Het
Med23	G	A	10: 24,780,282 (GRCm39)	D977N	probably damaging	Het
Mplkip	T	C	13: 17,870,367 (GRCm39)	F100L	probably damaging	Het
Ncoa7	C	T	10: 30,570,239 (GRCm39)	G240E	probably damaging	Het
Nedd4	A	G	9: 72,650,910 (GRCm39)	E827G	probably damaging	Het
Nfatc2	A	G	2: 168,413,065 (GRCm39)	F207L	probably benign	Het
Nr2f1	A	T	13: 78,343,716 (GRCm39)	S183T	probably benign	Het
Ocel1	A	G	8: 71,824,560 (GRCm39)	E81G	probably benign	Het
Or10aa3	T	C	1: 173,878,488 (GRCm39)	V183A	probably benign	Het
Or10g3b	C	A	14: 52,586,889 (GRCm39)	G205*	probably null	Het
Or4n4b	C	T	14: 50,536,604 (GRCm39)	G54E	possibly damaging	Het
Pcdh8	G	A	14: 80,005,086 (GRCm39)	P980S	probably benign	Het
Pex26	A	T	6: 121,170,510 (GRCm39)	Q285L	possibly damaging	Het
Pgap6	T	A	17: 26,339,423 (GRCm39)	M579K	probably damaging	Het
Plce1	A	T	19: 38,737,763 (GRCm39)	N1603I	probably benign	Het
Poli	A	T	18: 70,642,698 (GRCm39)	C501S	probably benign	Het
Ppp4r4	C	T	12: 103,550,404 (GRCm39)	T276I	probably damaging	Het
Rbpj	T	A	5: 53,747,693 (GRCm39)	M1K	probably null	Het
Recql4	T	A	15: 76,587,982 (GRCm39)	M1204L	probably benign	Het
Ribc2	T	C	15: 85,025,876 (GRCm39)	I284T	probably benign	Het
Rreb1	C	A	13: 38,114,362 (GRCm39)	Q574K	probably benign	Het
Scn9a	A	T	2: 66,357,424 (GRCm39)	L959Q	probably damaging	Het
Shank1	C	A	7: 43,969,093 (GRCm39)	H329Q	unknown	Het
Soat2	A	T	15: 102,071,013 (GRCm39)	D469V	probably damaging	Het
Spag7	T	A	11: 70,555,691 (GRCm39)	H82L	probably damaging	Het
Sptb	T	C	12: 76,675,271 (GRCm39)	I248V	probably benign	Het
Tacr3	A	G	3: 134,566,843 (GRCm39)	I239V	probably benign	Het
Tbc1d1	T	C	5: 64,414,133 (GRCm39)	F165L	probably benign	Het
Tchhl1	A	G	3: 93,378,451 (GRCm39)	E385G	probably benign	Het
Tecta	C	T	9: 42,248,532 (GRCm39)	D1957N	probably damaging	Het
Tenm2	T	C	11: 35,938,174 (GRCm39)	I1501V	probably benign	Het
Tet2	G	T	3: 133,192,146 (GRCm39)	Q763K	probably benign	Het
Timd6	A	C	11: 46,475,200 (GRCm39)	S132R	probably benign	Het
Tox3	G	A	8: 90,975,617 (GRCm39)	T338I	probably damaging	Het
Usp30	G	A	5: 114,259,730 (GRCm39)	D479N	probably damaging	Het
Vmn1r27	T	C	6: 58,192,785 (GRCm39)	D73G	possibly damaging	Het
Vmn1r27	A	T	6: 58,192,879 (GRCm39)	S42T	probably benign	Het
Vmn2r120	A	T	17: 57,816,258 (GRCm39)	V699D	possibly damaging	Het
Wdr31	T	A	4: 62,381,666 (GRCm39)	Q55L	probably benign	Het
Xdh	A	G	17: 74,204,040 (GRCm39)	F1107L	probably benign	Het
Zfp184	A	G	13: 22,143,887 (GRCm39)	H531R	probably damaging	Het
Zfp366	T	C	13: 99,365,709 (GRCm39)	L290P	probably damaging	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
R7286:Vwa2	UTSW	19	56,897,791 (GRCm39)	missense	probably benign
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'- AGCACATGGTCGGTAACACTG -3'

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

Posted On

2019-10-07