Mutagenetix > Incidental Mutation

Incidental Mutation 'R3617:Vwc2l'

268455

Institutional Source

Beutler Lab

Gene Symbol

Vwc2l

Ensembl Gene

ENSMUSG00000045648

Gene Name

von Willebrand factor C domain-containing protein 2-like

Synonyms

Brl, A830006F12Rik, brorin-like

MMRRC Submission

040674-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

70764874-70924556 bp(+) (GRCm39)

Type of Mutation

splice site (4 bp from exon)

DNA Base Change (assembly)

A to G at 70768041 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000123819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053922] [ENSMUST00000065425] [ENSMUST00000161937] [ENSMUST00000162182]

AlphaFold

Q505H4

Predicted Effect

probably benign
Transcript: ENSMUST00000053922
AA Change: D35G

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000058142
Gene: ENSMUSG00000045648
AA Change: D35G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
VWC	53	109	4.18e0	SMART
VWC	116	171	2.49e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000065425

SMART Domains

Protein: ENSMUSP00000069821
Gene: ENSMUSG00000053153

Domain	Start	End	E-Value	Type
low complexity region	45	55	N/A	INTRINSIC
coiled coil region	146	190	N/A	INTRINSIC
WD40	349	388	7.8e-2	SMART
WD40	391	430	6.23e-10	SMART
WD40	433	472	1.34e-9	SMART
WD40	475	514	1.92e-10	SMART
WD40	517	556	2.38e-6	SMART
WD40	559	598	1.42e2	SMART
WD40	600	639	4.83e-7	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161310

Predicted Effect

probably benign
Transcript: ENSMUST00000161937
AA Change: D35G

PolyPhen 2 Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000125014
Gene: ENSMUSG00000045648
AA Change: D35G

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:VWC_def	53	109	2e-35	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000162182

SMART Domains

Protein: ENSMUSP00000123819
Gene: ENSMUSG00000045648

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Blast:VWC_def	33	62	4e-12	BLAST
VWC	69	124	2.49e-5	SMART

Meta Mutation Damage Score

0.1067

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

98% (41/42)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,625,015 (GRCm39)	V460A	probably damaging	Het
Aplf	T	C	6: 87,648,865 (GRCm39)	I25V	possibly damaging	Het
Ascc3	A	G	10: 50,494,281 (GRCm39)	T239A	probably benign	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Cbfa2t2	A	T	2: 154,278,904 (GRCm39)		probably benign	Het
Ccdc168	T	C	1: 44,100,114 (GRCm39)	D328G	probably benign	Het
Cdkn1c	C	T	7: 143,013,531 (GRCm39)		probably benign	Het
Cfap46	A	G	7: 139,219,515 (GRCm39)	S1317P	probably benign	Het
Cntln	C	T	4: 84,923,214 (GRCm39)	Q560*	probably null	Het
Cntn2	G	C	1: 132,456,361 (GRCm39)	A161G	probably benign	Het
Crybg1	A	G	10: 43,832,782 (GRCm39)	I1991T	possibly damaging	Het
Cttnbp2	T	C	6: 18,414,189 (GRCm39)	E952G	probably damaging	Het
Dhx36	T	C	3: 62,379,428 (GRCm39)	T887A	possibly damaging	Het
Dhx36	A	G	3: 62,394,481 (GRCm39)	F512L	probably benign	Het
Fthl17f	A	G	X: 8,929,862 (GRCm39)	T153A	probably benign	Het
Gad1-ps	T	A	10: 99,281,260 (GRCm39)		noncoding transcript	Het
Gba2	C	T	4: 43,573,803 (GRCm39)	R163H	probably damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Gm17019	A	T	5: 15,081,081 (GRCm39)	M120K	possibly damaging	Het
Helz2	C	T	2: 180,874,854 (GRCm39)	R1880H	probably damaging	Het
Ifi204	T	C	1: 173,583,283 (GRCm39)	I312V	possibly damaging	Het
Kncn	T	C	4: 115,743,089 (GRCm39)	F55L	probably benign	Het
Kndc1	G	A	7: 139,481,976 (GRCm39)		probably benign	Het
Nat8f3	C	A	6: 85,738,670 (GRCm39)	A31S	probably benign	Het
Ndst4	T	C	3: 125,231,782 (GRCm39)	I117T	probably benign	Het
Ndufa9	G	T	6: 126,826,071 (GRCm39)		probably benign	Het
Nup42	T	C	5: 24,387,325 (GRCm39)	S372P	probably benign	Het
Pde6a	A	G	18: 61,364,575 (GRCm39)		probably benign	Het
Pigw	T	C	11: 84,769,133 (GRCm39)	I65M	probably damaging	Het
Pip	A	G	6: 41,828,871 (GRCm39)	T139A	probably benign	Het
Rel	A	T	11: 23,695,780 (GRCm39)	D202E	probably damaging	Het
Rhot2	A	G	17: 26,059,955 (GRCm39)		probably benign	Het
Sh3rf3	G	A	10: 58,922,685 (GRCm39)	R587Q	possibly damaging	Het
Sim1	T	A	10: 50,785,624 (GRCm39)	M231K	probably damaging	Het
Slc12a9	G	A	5: 137,330,759 (GRCm39)	T47M	probably damaging	Het
Slc4a4	A	G	5: 89,382,663 (GRCm39)	D1036G	probably benign	Het
Tas2r143	A	T	6: 42,377,997 (GRCm39)	I276F	probably benign	Het
Tgfbr3	A	T	5: 107,288,485 (GRCm39)	F392Y	possibly damaging	Het
Tmem266	T	C	9: 55,307,918 (GRCm39)	V148A	probably damaging	Het
Ubiad1	A	G	4: 148,520,817 (GRCm39)	I269T	probably benign	Het
Zbtb49	G	A	5: 38,357,975 (GRCm39)		probably benign	Het

Other mutations in Vwc2l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01066:Vwc2l	APN	1	70,768,070 (GRCm39)	missense	probably damaging	0.96
IGL01328:Vwc2l	APN	1	70,768,163 (GRCm39)	splice site	probably null
IGL01875:Vwc2l	APN	1	70,768,172 (GRCm39)	missense	probably benign	0.02
R0098:Vwc2l	UTSW	1	70,768,290 (GRCm39)	missense	probably damaging	1.00
R4533:Vwc2l	UTSW	1	70,921,298 (GRCm39)	missense	probably damaging	0.97
R5002:Vwc2l	UTSW	1	70,768,205 (GRCm39)	missense	probably damaging	0.97
R5345:Vwc2l	UTSW	1	70,768,077 (GRCm39)	missense	probably damaging	1.00
R5790:Vwc2l	UTSW	1	70,790,142 (GRCm39)	missense	probably damaging	0.98
R6196:Vwc2l	UTSW	1	70,768,180 (GRCm39)	missense	probably damaging	0.99
R7104:Vwc2l	UTSW	1	70,768,252 (GRCm39)	nonsense	probably null
R8863:Vwc2l	UTSW	1	70,768,063 (GRCm39)	missense	possibly damaging	0.63
R9373:Vwc2l	UTSW	1	70,768,218 (GRCm39)	missense	probably damaging	0.97
R9411:Vwc2l	UTSW	1	70,767,980 (GRCm39)	missense	probably benign	0.43
Z1177:Vwc2l	UTSW	1	70,768,126 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCATTCCCATGGAAGGAG -3'
(R):5'- CTTTACATTCGGGACAGCATC -3'

Sequencing Primer
(F):5'- CATTCCCATGGAAGGAGCTGAG -3'
(R):5'- GACAGCATCCATTGTGTTCCAC -3'

Posted On

2015-02-19