Mutagenetix > Incidental Mutation

Incidental Mutation 'R6196:Vwc2l'

502901

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

044336-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6196 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70764874-70924556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 70768180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 34 (D34E)

Ref Sequence

ENSEMBL: ENSMUSP00000123819 (fasta)

Gene Model

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

AlphaFold

Q505H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000053922
AA Change: D81E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058142
Gene: ENSMUSG00000045648
AA Change: D81E

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 damaging
Transcript: ENSMUST00000161937
AA Change: D81E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125014
Gene: ENSMUSG00000045648
AA Change: D81E

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: D34E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123819
Gene: ENSMUSG00000045648
AA Change: D34E

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

0.1053

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	T	8: 106,436,554 (GRCm39)	H241L	possibly damaging	Het
Acap1	T	C	11: 69,777,893 (GRCm39)	D115G	probably damaging	Het
Acvr2b	T	C	9: 119,262,469 (GRCm39)	V510A	possibly damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Agr2	A	T	12: 36,045,591 (GRCm39)	K26*	probably null	Het
Aox4	T	A	1: 58,256,685 (GRCm39)	I69N	probably damaging	Het
Asb4	G	A	6: 5,390,699 (GRCm39)	G31R	probably benign	Het
Atp6v1c2	C	A	12: 17,351,187 (GRCm39)	E105*	probably null	Het
Bend6	A	G	1: 33,917,509 (GRCm39)	Y44H	probably damaging	Het
Bltp3b	T	G	10: 89,641,195 (GRCm39)	S789A	probably benign	Het
Btn2a2	C	T	13: 23,672,015 (GRCm39)	V25M	possibly damaging	Het
Cab39l	T	A	14: 59,737,039 (GRCm39)	L53Q	probably damaging	Het
Cc2d1b	C	T	4: 108,490,422 (GRCm39)	R825W	probably damaging	Het
Cdc14b	C	T	13: 64,353,338 (GRCm39)		probably benign	Het
Cenpu	A	G	8: 47,015,615 (GRCm39)	R177G	probably benign	Het
Chit1	C	A	1: 134,074,381 (GRCm39)	Y229*	probably null	Het
Crybg2	C	A	4: 133,808,450 (GRCm39)	S1350R	probably damaging	Het
Ctdspl2	A	G	2: 121,809,373 (GRCm39)		probably null	Het
Ctsr	A	T	13: 61,308,345 (GRCm39)	H266Q	probably benign	Het
Dynlt5	A	G	4: 102,849,766 (GRCm39)	E63G	possibly damaging	Het
Efcab3	T	G	11: 104,746,386 (GRCm39)	I2279S	probably benign	Het
Extl3	T	A	14: 65,313,584 (GRCm39)	M533L	probably benign	Het
Fam162b	C	A	10: 51,463,506 (GRCm39)		probably null	Het
Fbxo28	T	C	1: 182,157,454 (GRCm39)	K121R	probably damaging	Het
Fsip2	A	C	2: 82,820,227 (GRCm39)	E5320A	possibly damaging	Het
Galc	A	T	12: 98,225,421 (GRCm39)	D56E	probably damaging	Het
Gm5468	A	G	15: 25,414,481 (GRCm39)		probably benign	Het
Hk1	T	A	10: 62,135,038 (GRCm39)	H24L	probably damaging	Het
Igkv5-43	A	G	6: 69,752,965 (GRCm39)	V39A	possibly damaging	Het
Lemd2	G	A	17: 27,411,976 (GRCm39)	Q439*	probably null	Het
Lgi1	A	G	19: 38,294,257 (GRCm39)	N295S	probably benign	Het
Macc1	T	G	12: 119,409,785 (GRCm39)	S184R	probably damaging	Het
Msmo1	A	G	8: 65,180,918 (GRCm39)		probably benign	Het
Muc5b	C	A	7: 141,405,333 (GRCm39)	R914S	unknown	Het
Or10d1	G	A	9: 39,483,776 (GRCm39)	P260S	possibly damaging	Het
Or1e16	G	A	11: 73,286,299 (GRCm39)	A183V	probably benign	Het
Or1e17	G	A	11: 73,831,635 (GRCm39)	A188T	possibly damaging	Het
Or4k2	C	A	14: 50,424,135 (GRCm39)	D180Y	probably damaging	Het
Or5b110-ps1	A	G	19: 13,260,290 (GRCm39)	I44T	probably benign	Het
Plekha5	T	C	6: 140,525,179 (GRCm39)	S14P	probably benign	Het
Pus10	A	G	11: 23,622,638 (GRCm39)	K86R	probably benign	Het
Rab37	T	C	11: 115,051,132 (GRCm39)	V147A	probably benign	Het
Sin3a	T	A	9: 57,011,213 (GRCm39)	I490N	probably damaging	Het
Slc27a4	A	G	2: 29,695,762 (GRCm39)	D99G	probably benign	Het
Slc43a2	C	T	11: 75,459,206 (GRCm39)	R413*	probably null	Het
Syna	G	T	5: 134,588,466 (GRCm39)	T161N	probably benign	Het
T	A	G	17: 8,655,996 (GRCm39)	D86G	possibly damaging	Het
Tanc1	G	A	2: 59,674,366 (GRCm39)	E1817K	possibly damaging	Het
Tap2	C	A	17: 34,433,384 (GRCm39)	Q516K	possibly damaging	Het
Tcaf1	A	T	6: 42,653,741 (GRCm39)	D717E	probably damaging	Het
Tcf20	G	T	15: 82,736,187 (GRCm39)	Q1755K	possibly damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trpm7	G	A	2: 126,667,559 (GRCm39)	P811S	possibly damaging	Het
Vmn2r59	A	G	7: 41,661,679 (GRCm39)	V712A	probably benign	Het
Wdr35	A	G	12: 9,077,632 (GRCm39)	K1091E	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
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'- GTCACGAAGACTATCCTGCTG -3'
(R):5'- TGTCAACCATGGTGCATATCTAC -3'

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

Posted On

2018-02-27