Mutagenetix > Incidental Mutation

Incidental Mutation 'R6927:Vwc2'

541167

Institutional Source

Beutler Lab

Gene Symbol

Vwc2

Ensembl Gene

ENSMUSG00000050830

Gene Name

von Willebrand factor C domain containing 2

Synonyms

cradin, A930041G11Rik, Brorin

MMRRC Submission

045044-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6927 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

11064223-11218931 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 11104250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 261 (P261T)

Ref Sequence

ENSEMBL: ENSMUSP00000128761 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056344] [ENSMUST00000109681] [ENSMUST00000129670]

AlphaFold

Q8C8N3

Predicted Effect

probably damaging
Transcript: ENSMUST00000056344
AA Change: P261T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000049692
Gene: ENSMUSG00000050830
AA Change: P261T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	89	107	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	132	143	N/A	INTRINSIC
VWC	154	210	7.52e-2	SMART
VWC	217	272	3.84e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109681
AA Change: P261T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105303
Gene: ENSMUSG00000050830
AA Change: P261T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	89	107	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	132	143	N/A	INTRINSIC
VWC	154	210	7.52e-2	SMART
VWC	217	272	3.84e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000129670
AA Change: P261T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128761
Gene: ENSMUSG00000050830
AA Change: P261T

Domain	Start	End	E-Value	Type
signal peptide	1	27	N/A	INTRINSIC
low complexity region	89	107	N/A	INTRINSIC
low complexity region	118	129	N/A	INTRINSIC
low complexity region	132	143	N/A	INTRINSIC
VWC	154	210	7.52e-2	SMART
VWC	217	272	3.84e-6	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.0%
20x: 96.1%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted bone morphogenic protein antagonist. The encoded protein is possibly involved in neural function and development and may have a role in cell adhesion.[provided by RefSeq, Oct 2009]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	T	17: 46,635,317 (GRCm39)	W229R	probably damaging	Het
Adck2	T	C	6: 39,560,998 (GRCm39)		probably null	Het
Ahi1	A	T	10: 20,930,968 (GRCm39)	N936I	probably damaging	Het
Ass1	T	C	2: 31,404,813 (GRCm39)	S365P	probably damaging	Het
Atp9b	T	C	18: 80,935,072 (GRCm39)	K208E	possibly damaging	Het
Bag6	G	A	17: 35,364,898 (GRCm39)		probably null	Het
Bptf	A	T	11: 106,945,421 (GRCm39)	V2491E	probably damaging	Het
Cd300ld2	T	A	11: 114,904,619 (GRCm39)	R83W	probably damaging	Het
Chrnd	T	C	1: 87,126,434 (GRCm39)	F396L	probably damaging	Het
Cyp3a13	G	A	5: 137,893,546 (GRCm39)	P439S	probably damaging	Het
Dnhd1	C	A	7: 105,364,770 (GRCm39)	H4279N	probably damaging	Het
Fam118a	T	C	15: 84,929,038 (GRCm39)		probably null	Het
Fan1	T	A	7: 64,022,234 (GRCm39)	N340Y	probably damaging	Het
Fasn	T	A	11: 120,699,115 (GRCm39)	D2386V	probably benign	Het
Fat1	G	A	8: 45,477,532 (GRCm39)	V2170I	probably benign	Het
Fdps	T	C	3: 89,000,958 (GRCm39)	R374G	probably benign	Het
Fhl5	T	C	4: 25,213,681 (GRCm39)	D85G	probably benign	Het
Flvcr1	T	C	1: 190,757,861 (GRCm39)	M144V	possibly damaging	Het
Gask1b	T	C	3: 79,848,769 (GRCm39)	I505T	probably damaging	Het
Gpr31b	A	G	17: 13,270,765 (GRCm39)	S135P	probably damaging	Het
Hey2	A	T	10: 30,710,413 (GRCm39)	D113E	probably benign	Het
Hoxc5	T	A	15: 102,923,807 (GRCm39)	I201N	probably damaging	Het
Ighv1-50	A	T	12: 115,083,794 (GRCm39)	W3R	probably damaging	Het
Impa1	A	G	3: 10,380,348 (GRCm39)	I208T	probably benign	Het
Iqcj	T	C	3: 67,954,624 (GRCm39)	L43P	possibly damaging	Het
Itga10	T	C	3: 96,564,030 (GRCm39)	F895L	probably damaging	Het
Kdm4b	T	C	17: 56,706,435 (GRCm39)	C850R	probably damaging	Het
Krt25	A	T	11: 99,208,205 (GRCm39)	I341N	probably damaging	Het
L3mbtl3	T	A	10: 26,168,567 (GRCm39)	R621*	probably null	Het
Lipm	T	C	19: 34,078,563 (GRCm39)		probably benign	Het
Macrod2	A	T	2: 142,098,441 (GRCm39)	D286V	probably damaging	Het
Mad2l2	T	A	4: 148,225,411 (GRCm39)	V27E	possibly damaging	Het
Map4k4	T	A	1: 40,050,842 (GRCm39)	H768Q	probably benign	Het
Mgat4d	A	G	8: 84,081,496 (GRCm39)	N83S	probably benign	Het
Nucb1	C	T	7: 45,148,282 (GRCm39)	R141H	possibly damaging	Het
Or2t46	A	G	11: 58,472,491 (GRCm39)	K274E	possibly damaging	Het
Pcdhga2	A	C	18: 37,803,719 (GRCm39)	D521A	probably damaging	Het
Pcnx1	T	C	12: 81,964,586 (GRCm39)	V251A	probably benign	Het
Pdf	A	T	8: 107,774,833 (GRCm39)	M133K	probably damaging	Het
Piezo2	A	G	18: 63,166,057 (GRCm39)	F2058S	probably damaging	Het
Plekhb2	T	A	1: 34,915,982 (GRCm39)		probably null	Het
Ppp2r3d	G	C	9: 101,052,547 (GRCm39)	H221D	probably damaging	Het
Prl2c5	A	T	13: 13,357,503 (GRCm39)		probably null	Het
Puf60	T	A	15: 75,947,663 (GRCm39)	M49L	probably benign	Het
Rdh16f1	T	C	10: 127,624,561 (GRCm39)	V133A	probably benign	Het
Robo2	T	A	16: 73,778,946 (GRCm39)	D389V	probably damaging	Het
Slc22a23	G	T	13: 34,528,362 (GRCm39)	A140D	probably benign	Het
Slc25a42	A	G	8: 70,641,573 (GRCm39)	L136P	probably damaging	Het
Slc36a3	T	A	11: 55,020,519 (GRCm39)	M284L	probably damaging	Het
Tas2r115	T	A	6: 132,714,895 (GRCm39)	I19F	probably damaging	Het
Tmc2	A	G	2: 130,103,300 (GRCm39)	H812R	probably benign	Het
Vmn2r26	A	G	6: 124,016,057 (GRCm39)	S174G	possibly damaging	Het
Vstm4	T	A	14: 32,585,959 (GRCm39)		probably null	Het
Zfhx3	C	G	8: 109,683,453 (GRCm39)	H3631D	unknown	Het
Zfp335	A	G	2: 164,735,640 (GRCm39)	C1105R	probably damaging	Het
Zfp488	A	G	14: 33,692,755 (GRCm39)	L136P	probably benign	Het
Zzef1	G	A	11: 72,803,983 (GRCm39)	R2575H	probably damaging	Het

Other mutations in Vwc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02343:Vwc2	APN	11	11,066,532 (GRCm39)	missense	probably damaging	1.00
R1386:Vwc2	UTSW	11	11,104,262 (GRCm39)	missense	probably damaging	1.00
R1874:Vwc2	UTSW	11	11,211,495 (GRCm39)	missense	probably damaging	0.97
R4072:Vwc2	UTSW	11	11,066,446 (GRCm39)	missense	probably damaging	1.00
R4426:Vwc2	UTSW	11	11,104,235 (GRCm39)	missense	probably damaging	0.96
R4427:Vwc2	UTSW	11	11,104,235 (GRCm39)	missense	probably damaging	0.96
R5914:Vwc2	UTSW	11	11,104,244 (GRCm39)	missense	probably damaging	1.00
R6765:Vwc2	UTSW	11	11,104,215 (GRCm39)	missense	probably benign	0.21
R7623:Vwc2	UTSW	11	11,066,415 (GRCm39)	missense	probably damaging	0.99
R7734:Vwc2	UTSW	11	11,065,929 (GRCm39)	missense	possibly damaging	0.91
R9582:Vwc2	UTSW	11	11,066,129 (GRCm39)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- CAAGCATTTAAACACAGGGCTATC -3'
(R):5'- TTGGTACACAGCAAGTCCCAC -3'

Sequencing Primer
(F):5'- TTAAACACAGGGCTATCTTCATCAC -3'
(R):5'- ACCGCTGACTGATAGTCCAATTG -3'

Posted On

2018-11-28