Mutagenetix > Incidental Mutation

Incidental Mutation 'R1386:Vwc2'

160618

Institutional Source

Beutler Lab

Gene Symbol

Vwc2

Ensembl Gene

ENSMUSG00000050830

Gene Name

von Willebrand factor C domain containing 2

Synonyms

A930041G11Rik, cradin, Brorin

MMRRC Submission

039448-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R1386 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

11114223-11268931 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11154262 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 265 (P265S)

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: P265S

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

SMART Domains

Protein: ENSMUSP00000049692
Gene: ENSMUSG00000050830
AA Change: P265S

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: P265S

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

SMART Domains

Protein: ENSMUSP00000105303
Gene: ENSMUSG00000050830
AA Change: P265S

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: P265S

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

SMART Domains

Protein: ENSMUSP00000128761
Gene: ENSMUSG00000050830
AA Change: P265S

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: 98.8%
3x: 97.8%
10x: 94.5%
20x: 87.0%

Validation Efficiency

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: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,244,255 (GRCm38)	I235V	probably benign	Het
Acsm4	T	C	7: 119,698,578 (GRCm38)	I146T	probably benign	Het
Adgrv1	T	C	13: 81,528,865 (GRCm38)	N1949S	probably benign	Het
Afdn	T	C	17: 13,846,536 (GRCm38)	V630A	probably damaging	Het
Amfr	A	G	8: 93,985,399 (GRCm38)	V301A	possibly damaging	Het
Anapc16	T	C	10: 59,996,457 (GRCm38)	M45V	probably benign	Het
Ankrd12	T	C	17: 65,983,380 (GRCm38)	E1686G	possibly damaging	Het
Ap2m1	T	G	16: 20,541,229 (GRCm38)	H193Q	probably damaging	Het
Aplnr	T	C	2: 85,137,461 (GRCm38)	W277R	possibly damaging	Het
Aspm	C	T	1: 139,478,972 (GRCm38)	H1866Y	possibly damaging	Het
Aspm	A	G	1: 139,457,623 (GRCm38)	E335G	probably benign	Het
Atp8b4	T	A	2: 126,378,744 (GRCm38)	D578V	probably benign	Het
Ccr1	T	A	9: 123,963,962 (GRCm38)	E177V	probably benign	Het
Cecr2	A	G	6: 120,762,131 (GRCm38)	E1245G	probably damaging	Het
Cep162	A	T	9: 87,221,202 (GRCm38)	C638S	probably benign	Het
Ces1b	A	T	8: 93,068,077 (GRCm38)	I298N	probably benign	Het
Chdh	T	A	14: 30,031,434 (GRCm38)	L100Q	probably damaging	Het
Chrnd	T	C	1: 87,192,590 (GRCm38)	I156T	probably damaging	Het
Clpx	G	A	9: 65,326,888 (GRCm38)	R605Q	probably null	Het
Cnga1	T	A	5: 72,612,183 (GRCm38)	K135*	probably null	Het
Col6a4	A	T	9: 106,062,945 (GRCm38)	V1262E	probably benign	Het
Cracr2b	T	C	7: 141,463,568 (GRCm38)	L53P	probably damaging	Het
Crhr1	T	C	11: 104,174,394 (GRCm38)	S372P	possibly damaging	Het
Cyp11b2	T	A	15: 74,851,775 (GRCm38)		probably null	Het
Cyp21a1	T	A	17: 34,802,210 (GRCm38)	D373V	probably damaging	Het
D6Ertd527e	C	G	6: 87,111,524 (GRCm38)	T223S	unknown	Het
Ddah1	A	T	3: 145,889,211 (GRCm38)	Y242F	probably benign	Het
Dlgap3	A	G	4: 127,194,926 (GRCm38)	D105G	possibly damaging	Het
Dtl	A	G	1: 191,569,717 (GRCm38)	V76A	probably damaging	Het
Dzank1	A	G	2: 144,491,831 (GRCm38)	S361P	probably benign	Het
Ehd3	T	A	17: 73,820,543 (GRCm38)	I157N	probably damaging	Het
Elk4	T	C	1: 132,017,830 (GRCm38)	F149L	probably damaging	Het
Eme2	G	A	17: 24,892,918 (GRCm38)	S263F	probably damaging	Het
Fam83a	A	G	15: 57,986,503 (GRCm38)	R148G	probably damaging	Het
Farp2	C	A	1: 93,620,151 (GRCm38)		probably null	Het
Fbxw25	T	A	9: 109,654,641 (GRCm38)	I168F	possibly damaging	Het
Fermt1	T	C	2: 132,916,058 (GRCm38)	D479G	probably damaging	Het
Fgf17	C	A	14: 70,636,770 (GRCm38)	R193L	probably damaging	Het
Foxred2	T	G	15: 77,948,521 (GRCm38)		probably null	Het
Gad1	T	C	2: 70,574,123 (GRCm38)	V119A	possibly damaging	Het
Gas2l3	A	G	10: 89,414,353 (GRCm38)	V301A	possibly damaging	Het
Gimap8	G	A	6: 48,656,653 (GRCm38)	V469I	probably benign	Het
Gja1	A	T	10: 56,387,969 (GRCm38)	E141D	probably benign	Het
Glod4	C	T	11: 76,222,003 (GRCm38)	W268*	probably null	Het
Gm7173	C	T	X: 79,509,901 (GRCm38)	V323I	possibly damaging	Het
Guf1	C	T	5: 69,563,162 (GRCm38)	H309Y	probably benign	Het
Hax1	A	G	3: 89,995,849 (GRCm38)	V215A	probably damaging	Het
Heatr9	T	C	11: 83,518,825 (GRCm38)	D107G	probably benign	Het
Hephl1	T	A	9: 15,076,754 (GRCm38)	Y686F	probably benign	Het
Hk3	T	C	13: 55,007,030 (GRCm38)		probably null	Het
Ikbkb	G	T	8: 22,665,617 (GRCm38)	Q620K	possibly damaging	Het
Il18rap	C	T	1: 40,531,522 (GRCm38)	A208V	probably benign	Het
Kif26b	T	C	1: 178,915,644 (GRCm38)	S1102P	probably benign	Het
Kif5b	A	T	18: 6,226,383 (GRCm38)	D147E	probably damaging	Het
Klhl3	T	C	13: 58,030,433 (GRCm38)	T348A	probably damaging	Het
Krt10	T	C	11: 99,385,920 (GRCm38)		probably benign	Het
Lama3	A	T	18: 12,477,370 (GRCm38)	H1124L	probably benign	Het
Lin7a	A	T	10: 107,412,122 (GRCm38)	Q96L	unknown	Het
Ly6c2	T	G	15: 75,110,589 (GRCm38)	I37L	probably benign	Het
Mov10l1	A	G	15: 89,011,386 (GRCm38)	Y585C	possibly damaging	Het
Msr1	G	A	8: 39,589,293 (GRCm38)	Q414*	probably null	Het
Myh13	T	C	11: 67,370,950 (GRCm38)	C1900R	possibly damaging	Het
Obscn	T	A	11: 59,133,853 (GRCm38)	N454Y	probably damaging	Het
Olfml2b	T	G	1: 170,681,162 (GRCm38)	Y530D	probably damaging	Het
Olfr1057	A	G	2: 86,374,921 (GRCm38)	F164L	probably damaging	Het
Olfr1206	T	A	2: 88,865,353 (GRCm38)	F249L	probably benign	Het
Olfr1377	T	C	11: 50,985,367 (GRCm38)	F222S	probably damaging	Het
Olfr1449	A	T	19: 12,935,139 (GRCm38)	T134S	probably benign	Het
Olfr591	T	A	7: 103,173,367 (GRCm38)	H90L	probably benign	Het
Olfr868	T	A	9: 20,101,582 (GRCm38)	N274K	probably benign	Het
Pde10a	T	G	17: 8,953,742 (GRCm38)	V648G	probably damaging	Het
Pde7b	T	A	10: 20,418,801 (GRCm38)	H258L	probably damaging	Het
Pik3cb	A	G	9: 99,064,027 (GRCm38)	V582A	possibly damaging	Het
Plxnb1	T	C	9: 109,101,023 (GRCm38)	S316P	probably benign	Het
Pmpca	C	T	2: 26,392,518 (GRCm38)	T246I	probably damaging	Het
Reep3	A	T	10: 67,063,009 (GRCm38)	V32D	possibly damaging	Het
Rfx4	A	G	10: 84,863,285 (GRCm38)	M252V	probably damaging	Het
Rnf168	C	A	16: 32,298,963 (GRCm38)	D447E	probably damaging	Het
Rnf31	T	C	14: 55,596,764 (GRCm38)	V518A	probably damaging	Het
Rnpc3	A	T	3: 113,613,784 (GRCm38)	L340*	probably null	Het
Scn2a	A	G	2: 65,688,741 (GRCm38)	E437G	probably damaging	Het
Scnn1b	C	A	7: 121,902,488 (GRCm38)	N175K	possibly damaging	Het
Slc39a11	T	A	11: 113,247,724 (GRCm38)	I344F	probably benign	Het
Slc9a2	T	A	1: 40,719,018 (GRCm38)	L239Q	probably damaging	Het
Smg5	T	C	3: 88,355,671 (GRCm38)	F794L	probably damaging	Het
Smim13	C	T	13: 41,272,692 (GRCm38)	S68L	possibly damaging	Het
Sos2	A	T	12: 69,614,658 (GRCm38)	Y680N	probably damaging	Het
Spag6	T	A	2: 18,734,246 (GRCm38)	M329K	possibly damaging	Het
Spire2	G	A	8: 123,361,366 (GRCm38)		probably null	Het
Tdrd9	T	A	12: 112,044,804 (GRCm38)	V1149D	probably benign	Het
Tns3	T	A	11: 8,518,261 (GRCm38)	Y321F	probably benign	Het
Top3b	T	C	16: 16,880,629 (GRCm38)	V112A	probably benign	Het
Trafd1	G	A	5: 121,379,652 (GRCm38)	T26I	probably damaging	Het
Ttc28	G	A	5: 111,225,677 (GRCm38)	S962N	probably damaging	Het
Vmn2r78	T	C	7: 86,915,407 (GRCm38)	L20S	unknown	Het
Vmn2r82	A	T	10: 79,378,711 (GRCm38)	D176V	probably damaging	Het
Vps13b	T	C	15: 35,923,312 (GRCm38)	F3778L	probably damaging	Het
Vwa3b	T	C	1: 37,051,881 (GRCm38)		probably null	Het
Zbtb9	T	A	17: 26,974,638 (GRCm38)	I339N	probably damaging	Het
Zfp335	T	C	2: 164,898,241 (GRCm38)	T764A	probably benign	Het
Zfp366	T	A	13: 99,246,555 (GRCm38)	V742D	probably damaging	Het
Zfp709	A	T	8: 71,890,662 (GRCm38)	Y645F	probably damaging	Het
Zmym2	T	A	14: 56,913,091 (GRCm38)	C424S	probably damaging	Het

Other mutations in Vwc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02343:Vwc2	APN	11	11,116,532 (GRCm38)	missense	probably damaging	1.00
R1874:Vwc2	UTSW	11	11,261,495 (GRCm38)	missense	probably damaging	0.97
R4072:Vwc2	UTSW	11	11,116,446 (GRCm38)	missense	probably damaging	1.00
R4426:Vwc2	UTSW	11	11,154,235 (GRCm38)	missense	probably damaging	0.96
R4427:Vwc2	UTSW	11	11,154,235 (GRCm38)	missense	probably damaging	0.96
R5914:Vwc2	UTSW	11	11,154,244 (GRCm38)	missense	probably damaging	1.00
R6765:Vwc2	UTSW	11	11,154,215 (GRCm38)	missense	probably benign	0.21
R6927:Vwc2	UTSW	11	11,154,250 (GRCm38)	missense	probably damaging	1.00
R7623:Vwc2	UTSW	11	11,116,415 (GRCm38)	missense	probably damaging	0.99
R7734:Vwc2	UTSW	11	11,115,929 (GRCm38)	missense	possibly damaging	0.91
R9582:Vwc2	UTSW	11	11,116,129 (GRCm38)	missense	probably benign	0.45

Predicted Primers

PCR Primer
(F):5'- ACATCAGAGTTTCCCAGCTCCAGG -3'
(R):5'- AATTGACAGGGCGAGGACACATCC -3'

Sequencing Primer
(F):5'- GTTCCAAGCATTTAAACACAGGG -3'
(R):5'- CATGGAAACCCATACATGCCTAC -3'

Posted On

2014-03-14