Mutagenetix > Incidental Mutation

Incidental Mutation 'R1403:Vwa2'

188635

Institutional Source

Beutler Lab

Gene Symbol

Vwa2

Ensembl Gene

ENSMUSG00000025082

Gene Name

von Willebrand factor A domain containing 2

Synonyms

Amaco

MMRRC Submission

039465-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1403 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

56862848-56900510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 56869570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 2 (P2S)

Ref Sequence

ENSEMBL: ENSMUSP00000026068 (fasta)

Gene Model

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

AlphaFold

Q70UZ7

Predicted Effect

unknown
Transcript: ENSMUST00000026068
AA Change: P2S

SMART Domains

Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
AA Change: P2S

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

Meta Mutation Damage Score

0.0664

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.5%

Validation Efficiency

94% (51/54)

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,059,253 (GRCm39)		probably benign	Het
AC238840.3	T	G	7: 38,567,345 (GRCm39)	I28L	probably benign	Het
Acsf2	G	T	11: 94,453,700 (GRCm39)	N420K	probably benign	Het
Adam26a	A	T	8: 44,022,229 (GRCm39)	C420*	probably null	Het
Afap1l1	T	C	18: 61,874,909 (GRCm39)	Y424C	probably damaging	Het
Agl	A	G	3: 116,576,246 (GRCm39)	V553A	probably benign	Het
Akr7a5	T	A	4: 139,045,434 (GRCm39)	M325K	probably damaging	Het
Akt3	C	T	1: 176,958,676 (GRCm39)		probably benign	Het
Aldh7a1	C	A	18: 56,692,341 (GRCm39)	E87*	probably null	Het
Arhgap29	A	G	3: 121,767,578 (GRCm39)	K7E	probably damaging	Het
Brca2	T	A	5: 150,466,114 (GRCm39)	D1959E	probably benign	Het
Cdc42se2	A	G	11: 54,611,192 (GRCm39)		probably benign	Het
Cdh20	G	A	1: 109,988,862 (GRCm39)	V255I	probably benign	Het
Chil5	G	T	3: 105,925,409 (GRCm39)	Q171K	probably benign	Het
Cul9	C	G	17: 46,833,101 (GRCm39)	A1326P	probably damaging	Het
Dhrs7c	A	T	11: 67,702,476 (GRCm39)	I155F	probably damaging	Het
Dip2c	A	G	13: 9,603,300 (GRCm39)		probably null	Het
Ell	T	A	8: 71,044,138 (GRCm39)		probably benign	Het
Fam124b	T	C	1: 80,191,056 (GRCm39)	Y109C	possibly damaging	Het
Gak	T	A	5: 108,739,011 (GRCm39)	K156M	probably damaging	Het
Gm9797	C	A	10: 11,485,294 (GRCm39)		noncoding transcript	Het
Got1l1	C	G	8: 27,690,745 (GRCm39)		probably null	Het
Grm1	T	C	10: 10,955,879 (GRCm39)	D135G	probably benign	Het
Hrh3	T	G	2: 179,744,547 (GRCm39)	D131A	probably damaging	Het
Itpr1	A	T	6: 108,366,514 (GRCm39)	Q979L	probably null	Het
Kdm7a	C	A	6: 39,128,187 (GRCm39)		probably benign	Het
Klb	G	C	5: 65,506,089 (GRCm39)	R112P	possibly damaging	Het
Lingo2	A	T	4: 35,709,420 (GRCm39)	C187S	possibly damaging	Het
Lrp1	T	A	10: 127,417,760 (GRCm39)		probably null	Het
Ltbp4	T	C	7: 27,028,464 (GRCm39)	N266S	unknown	Het
Mgam	G	A	6: 40,643,815 (GRCm39)	S581N	possibly damaging	Het
Mrgpra9	T	A	7: 46,885,386 (GRCm39)	I94L	probably benign	Het
Msantd4	A	T	9: 4,384,023 (GRCm39)	I115F	probably benign	Het
Mterf3	A	G	13: 67,077,944 (GRCm39)		probably benign	Het
Neurl1a	C	A	19: 47,242,150 (GRCm39)	N414K	probably damaging	Het
Nfkbiz	A	G	16: 55,636,833 (GRCm39)		probably benign	Het
Nrxn1	A	C	17: 90,950,481 (GRCm39)	L566R	probably benign	Het
Nsmce1	A	G	7: 125,067,027 (GRCm39)		probably benign	Het
Or5p59	T	A	7: 107,702,822 (GRCm39)	I102N	probably benign	Het
Prl7d1	A	T	13: 27,893,180 (GRCm39)	F243I	possibly damaging	Het
Rbm27	T	C	18: 42,450,746 (GRCm39)	S509P	probably damaging	Het
Rnf126	C	T	10: 79,596,702 (GRCm39)	A239T	probably benign	Het
Rnf44	C	T	13: 54,829,821 (GRCm39)	E306K	probably damaging	Het
Rp1	T	C	1: 4,416,520 (GRCm39)	R1531G	possibly damaging	Het
Sf3b4	A	G	3: 96,080,953 (GRCm39)		probably null	Het
Stk4	C	T	2: 163,942,448 (GRCm39)	T360M	probably benign	Het
Syt15	C	A	14: 33,943,159 (GRCm39)		probably benign	Het
Vcan	T	A	13: 89,836,603 (GRCm39)	E2980D	probably benign	Het
Vps13b	A	G	15: 35,709,268 (GRCm39)		probably benign	Het
Wdr77	G	A	3: 105,874,573 (GRCm39)	V322I	possibly damaging	Het
Zfp12	C	A	5: 143,230,535 (GRCm39)	Y287*	probably null	Het
Zfp937	T	A	2: 150,080,868 (GRCm39)	Y299*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGGAGACCTTTGGGGCAGGAAATC -3'
(R):5'- GAGCACATGCTTCGTCTACTCCAC -3'

Sequencing Primer
(F):5'- CTGGAACTATGTCCGATAGCAG -3'
(R):5'- CACACACAAAAGATGATGTTAAAGC -3'

Posted On

2014-05-09