Mutagenetix > Incidental Mutation

Incidental Mutation 'R9373:Vwc2l'

709415

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

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9373 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70764874-70924556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 70768218 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 94 (H94L)

Ref Sequence

ENSEMBL: ENSMUSP00000058142 (fasta)

Gene Model

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

AlphaFold

Q505H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000053922
AA Change: H94L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000058142
Gene: ENSMUSG00000045648
AA Change: H94L

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

probably damaging
Transcript: ENSMUST00000161937
AA Change: H94L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125014
Gene: ENSMUSG00000045648
AA Change: H94L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000162182
AA Change: H47L

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000123819
Gene: ENSMUSG00000045648
AA Change: H47L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

96% (53/55)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002D01Rik	CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC	7: 28,947,048 (GRCm39)		probably benign	Het
2310003L06Rik	A	C	5: 88,120,668 (GRCm39)	D475A	probably benign	Het
Aatk	T	C	11: 119,906,343 (GRCm39)	M243V	possibly damaging	Het
Acox1	A	T	11: 116,065,173 (GRCm39)	N627K	possibly damaging	Het
Adal	A	G	2: 120,980,703 (GRCm39)	Y142C	probably benign	Het
Agfg2	A	G	5: 137,662,476 (GRCm39)		probably null	Het
Ajap1	C	T	4: 153,516,670 (GRCm39)	A224T	probably benign	Het
Alg1	T	C	16: 5,056,990 (GRCm39)	F234L	probably benign	Het
Arhgap27	G	T	11: 103,251,287 (GRCm39)	A147E	possibly damaging	Het
C9orf72	A	G	4: 35,196,985 (GRCm39)	F360S		Het
Cachd1	T	C	4: 100,832,067 (GRCm39)	V743A	possibly damaging	Het
Cc2d2b	G	A	19: 40,784,167 (GRCm39)	V655I	unknown	Het
Cd72	T	C	4: 43,450,141 (GRCm39)	S256G	possibly damaging	Het
Celf2	G	T	2: 6,551,915 (GRCm39)	N521K	probably benign	Het
Clca4a	T	A	3: 144,672,133 (GRCm39)	N270Y	possibly damaging	Het
Clvs2	A	T	10: 33,404,382 (GRCm39)	V278E	probably benign	Het
Cwf19l2	T	C	9: 3,454,718 (GRCm39)	F677S	probably damaging	Het
Dnaaf4	A	G	9: 72,871,462 (GRCm39)	T241A	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Epdr1	T	C	13: 19,778,707 (GRCm39)	N130D	possibly damaging	Het
Fam184a	G	A	10: 53,566,115 (GRCm39)	R491W	probably benign	Het
Foxp2	A	G	6: 15,377,969 (GRCm39)	Q160R	unknown	Het
Fstl5	T	A	3: 76,555,669 (GRCm39)	Y515*	probably null	Het
Garin5b	T	C	7: 4,760,712 (GRCm39)	M667V		Het
Helz2	G	T	2: 180,882,741 (GRCm39)	N17K	probably benign	Het
Irag1	A	G	7: 110,545,038 (GRCm39)		probably null	Het
Jmjd1c	C	T	10: 66,932,495 (GRCm39)		probably benign	Het
Jup	C	T	11: 100,270,391 (GRCm39)	C372Y	probably damaging	Het
Lrrn1	A	C	6: 107,545,465 (GRCm39)	Q421P	possibly damaging	Het
Mapk1	A	G	16: 16,836,154 (GRCm39)	I101V	probably benign	Het
Me2	T	C	18: 73,918,800 (GRCm39)	E427G	probably damaging	Het
Mrc1	G	A	2: 14,274,999 (GRCm39)	M433I	probably damaging	Het
Nelfb	G	A	2: 25,095,218 (GRCm39)	R324W	probably damaging	Het
Nlrp4b	T	A	7: 10,449,126 (GRCm39)	I443K	probably benign	Het
Nup210l	C	T	3: 90,107,173 (GRCm39)	P1570L	probably benign	Het
Or5b118	A	G	19: 13,449,216 (GRCm39)	E294G	probably damaging	Het
Or8b50	G	A	9: 38,518,142 (GRCm39)	C127Y	possibly damaging	Het
Or8b9	T	A	9: 37,766,750 (GRCm39)	V212D	probably damaging	Het
Or9g3	A	T	2: 85,590,275 (GRCm39)	Y148*	probably null	Het
Parvb	C	T	15: 84,188,100 (GRCm39)	T281I	probably damaging	Het
Prune2	A	G	19: 17,099,502 (GRCm39)	T1669A	probably benign	Het
Runx3	A	G	4: 134,848,456 (GRCm39)	T14A	probably benign	Het
Scn9a	A	G	2: 66,314,261 (GRCm39)	V1819A	probably benign	Het
Senp1	T	C	15: 97,964,435 (GRCm39)	T260A	probably benign	Het
Serpinb10	A	G	1: 107,474,749 (GRCm39)	R304G	possibly damaging	Het
Spem1	C	T	11: 69,712,640 (GRCm39)	C65Y	probably benign	Het
Tdrd6	A	G	17: 43,939,053 (GRCm39)	V665A	possibly damaging	Het
Tenm2	C	T	11: 35,930,713 (GRCm39)	A1772T	probably damaging	Het
Tenm3	C	T	8: 48,752,690 (GRCm39)	V891I	probably damaging	Het
Trank1	A	G	9: 111,194,259 (GRCm39)	D761G	probably benign	Het
Tut7	T	C	13: 59,944,681 (GRCm39)	S1053G	probably damaging	Het
Ubap2l	A	T	3: 89,915,587 (GRCm39)	Y985N	unknown	Het
Wdr27	G	A	17: 15,154,795 (GRCm39)	H41Y	probably benign	Het
Zfp7	AGTGCGGGAAAGGTTTCCACCTG	AG	15: 76,774,798 (GRCm39)		probably benign	Het
Zfp7	TGCGGGAAAGGTTTCCACCTGAGCG	TGCG	15: 76,774,800 (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
R3617:Vwc2l	UTSW	1	70,768,041 (GRCm39)	splice site	probably null
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
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'- ACCAGGCTTCCAGTAATGAC -3'
(R):5'- TTTCTGTCAACCATGGTGCATATC -3'

Sequencing Primer
(F):5'- CAGGCTTCCAGTAATGACAATCTG -3'
(R):5'- CCATGGTGCATATCTACATAAAGGC -3'

Posted On

2022-04-18