Mutagenetix > Incidental Mutation

Incidental Mutation 'R5959:Vwa2'

471383

Institutional Source

Beutler Lab

Gene Symbol

Vwa2

Ensembl Gene

ENSMUSG00000025082

Gene Name

von Willebrand factor A domain containing 2

Synonyms

Amaco

MMRRC Submission

044146-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

56862848-56900510 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56869604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 13 (L13P)

Ref Sequence

ENSEMBL: ENSMUSP00000026068 (fasta)

Gene Model

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

AlphaFold

Q70UZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026068
AA Change: L13P

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082
AA Change: L13P

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

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.6%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	T	11: 84,106,792 (GRCm39)	N164Y	probably damaging	Het
Acp6	A	G	3: 97,073,888 (GRCm39)	E164G	probably damaging	Het
Adcy5	A	T	16: 35,118,780 (GRCm39)	I1044F	probably damaging	Het
Ahcyl2	A	G	6: 29,886,173 (GRCm39)	D363G	probably damaging	Het
Ankrd28	T	C	14: 31,451,879 (GRCm39)	T273A	probably benign	Het
Cc2d1a	A	T	8: 84,860,132 (GRCm39)	Y862*	probably null	Het
Cfap221	T	A	1: 119,860,511 (GRCm39)	H705L	probably damaging	Het
Cfap61	C	T	2: 145,789,053 (GRCm39)	T19M	probably benign	Het
Chga	T	C	12: 102,528,114 (GRCm39)	S202P	probably benign	Het
Cnmd	T	C	14: 79,894,109 (GRCm39)	I93V	probably damaging	Het
Cpne1	G	A	2: 155,920,143 (GRCm39)	S188L	probably benign	Het
Dchs2	G	A	3: 83,232,725 (GRCm39)	V2237I	probably benign	Het
Dguok	C	T	6: 83,467,574 (GRCm39)	R91H	probably benign	Het
Eed	A	G	7: 89,618,835 (GRCm39)	I193T	probably damaging	Het
Fasn	C	T	11: 120,699,390 (GRCm39)	E2353K	probably damaging	Het
Fpr-rs7	G	A	17: 20,334,011 (GRCm39)	H160Y	probably benign	Het
Gramd4	T	A	15: 86,011,758 (GRCm39)	M272K	probably damaging	Het
Hfm1	A	G	5: 107,022,783 (GRCm39)	S940P	probably damaging	Het
Ifnlr1	T	A	4: 135,432,652 (GRCm39)	S363T	possibly damaging	Het
Jak3	A	G	8: 72,134,715 (GRCm39)	N481D	probably damaging	Het
Kcnj3	A	G	2: 55,327,330 (GRCm39)	K40E	probably benign	Het
Kif20a	G	A	18: 34,765,468 (GRCm39)	A822T	probably benign	Het
Lpcat4	T	A	2: 112,070,380 (GRCm39)	L31H	possibly damaging	Het
Myo1c	A	G	11: 75,548,345 (GRCm39)	T38A	probably benign	Het
Myt1l	T	C	12: 29,970,039 (GRCm39)		probably null	Het
Nbas	T	C	12: 13,338,802 (GRCm39)	V214A	probably damaging	Het
Neb	C	A	2: 52,046,389 (GRCm39)	R6537L	probably benign	Het
Nwd2	T	A	5: 63,965,413 (GRCm39)	F1666I	probably benign	Het
Or52z1	T	A	7: 103,436,723 (GRCm39)	I254F	probably damaging	Het
Or8b1	A	G	9: 38,400,207 (GRCm39)	N294S	probably damaging	Het
Prmt8	C	A	6: 127,706,381 (GRCm39)	V137L	probably damaging	Het
Ptpn21	A	T	12: 98,675,148 (GRCm39)		probably null	Het
Rab15	A	G	12: 76,869,043 (GRCm39)	S17P	probably damaging	Het
Rbm5	T	G	9: 107,629,339 (GRCm39)	I338L	probably benign	Het
Rragc	G	A	4: 123,817,767 (GRCm39)	S218N	probably damaging	Het
Sacs	T	C	14: 61,449,849 (GRCm39)	M3965T	probably damaging	Het
Sgo2b	T	A	8: 64,380,322 (GRCm39)	I837F	probably benign	Het
Sorcs3	T	G	19: 48,737,835 (GRCm39)	C751G	probably damaging	Het
Sowahc	A	G	10: 59,058,920 (GRCm39)	D352G	probably benign	Het
Sox15	C	T	11: 69,546,556 (GRCm39)	R120C	probably damaging	Het
Spata31f1e	T	A	4: 42,793,492 (GRCm39)	K213N	probably damaging	Het
Srr	A	G	11: 74,801,891 (GRCm39)	V126A	possibly damaging	Het
Tenm3	T	A	8: 49,099,482 (GRCm39)	R108*	probably null	Het
Traf3ip2	A	T	10: 39,517,337 (GRCm39)	M403L	probably benign	Het
Trappc11	T	C	8: 47,954,593 (GRCm39)	D949G	probably damaging	Het
Ttn	A	G	2: 76,544,960 (GRCm39)	I32714T	probably damaging	Het
Ttn	T	A	2: 76,693,849 (GRCm39)	T218S	possibly damaging	Het
Uaca	A	T	9: 60,778,052 (GRCm39)	H811L	probably damaging	Het
Ugt2b1	T	C	5: 87,073,813 (GRCm39)	E182G	probably benign	Het
Vmn1r49	T	C	6: 90,049,786 (GRCm39)	D72G	probably damaging	Het
Vmn2r80	A	T	10: 79,005,313 (GRCm39)	M317L	probably benign	Het
Zc3hav1	G	A	6: 38,284,379 (GRCm39)	T912I	probably benign	Het
Zfp703	C	T	8: 27,469,233 (GRCm39)	P299L	probably damaging	Het
Zfp948	A	G	17: 21,807,776 (GRCm39)	K323E	probably benign	Het
Zfyve27	T	G	19: 42,167,887 (GRCm39)	V143G	unknown	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
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'- CCAGACTGCAGTGATCACAC -3'
(R):5'- AGACTGTAACTCAAGAGACTGC -3'

Sequencing Primer
(F):5'- TGATCACACTGAAGCCTCTGGTG -3'
(R):5'- CTGCAAATTCATATCAGGGCTGG -3'

Posted On

2017-03-31