Mutagenetix > Incidental Mutation

Incidental Mutation 'R3522:Vwa5b2'

267572

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b2

Ensembl Gene

ENSMUSG00000046613

Gene Name

von Willebrand factor A domain containing 5B2

Synonyms

EG328644

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

R3522 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20589471-20605377 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20601608 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 756 (S756G)

Ref Sequence

ENSEMBL: ENSMUSP00000123727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045918] [ENSMUST00000096197] [ENSMUST00000100074] [ENSMUST00000123774] [ENSMUST00000147867] [ENSMUST00000149236] [ENSMUST00000159780] [ENSMUST00000231362] [ENSMUST00000231386] [ENSMUST00000231749] [ENSMUST00000232451] [ENSMUST00000231531] [ENSMUST00000231904] [ENSMUST00000232319] [ENSMUST00000231387] [ENSMUST00000231471] [ENSMUST00000232458]

AlphaFold

Q3UR50

Predicted Effect

probably benign
Transcript: ENSMUST00000045918

SMART Domains

Protein: ENSMUSP00000045272
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
Pfam:ALG3	47	406	2.5e-145	PFAM
low complexity region	407	420	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000046188

Predicted Effect

probably damaging
Transcript: ENSMUST00000096197
AA Change: S756G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: S756G

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	7.3e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	684	706	N/A	INTRINSIC
low complexity region	725	733	N/A	INTRINSIC
low complexity region	744	764	N/A	INTRINSIC
low complexity region	780	797	N/A	INTRINSIC
low complexity region	823	833	N/A	INTRINSIC
low complexity region	1032	1046	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100074

SMART Domains

Protein: ENSMUSP00000097652
Gene: ENSMUSG00000046613

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	1.9e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	572	586	N/A	INTRINSIC
low complexity region	587	602	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000117019

Predicted Effect

probably benign
Transcript: ENSMUST00000123774

SMART Domains

Protein: ENSMUSP00000123378
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
transmembrane domain	42	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127454

SMART Domains

Protein: ENSMUSP00000120559
Gene: ENSMUSG00000033809

Domain	Start	End	E-Value	Type
transmembrane domain	25	47	N/A	INTRINSIC
Pfam:ALG3	51	118	2.1e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147867

Predicted Effect

probably benign
Transcript: ENSMUST00000149236

SMART Domains

Protein: ENSMUSP00000124117
Gene: ENSMUSG00000046613

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	7.9e-32	PFAM
Blast:VWA	352	408	2e-26	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000159780
AA Change: S756G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: S756G

Domain	Start	End	E-Value	Type
Pfam:VIT_2	2	79	5.5e-31	PFAM
VWA	352	521	3.16e-1	SMART
low complexity region	684	706	N/A	INTRINSIC
low complexity region	725	733	N/A	INTRINSIC
low complexity region	744	764	N/A	INTRINSIC
low complexity region	780	797	N/A	INTRINSIC
low complexity region	823	833	N/A	INTRINSIC
low complexity region	1032	1046	N/A	INTRINSIC
low complexity region	1127	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231362

Predicted Effect

probably benign
Transcript: ENSMUST00000231386

Predicted Effect

probably benign
Transcript: ENSMUST00000231749

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231608

Predicted Effect

probably benign
Transcript: ENSMUST00000232451

Predicted Effect

probably benign
Transcript: ENSMUST00000231531

Predicted Effect

probably benign
Transcript: ENSMUST00000231904

Predicted Effect

probably benign
Transcript: ENSMUST00000232319

Predicted Effect

probably benign
Transcript: ENSMUST00000231387

Predicted Effect

probably benign
Transcript: ENSMUST00000231471

Predicted Effect

probably benign
Transcript: ENSMUST00000232458

Meta Mutation Damage Score

0.1631

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

100% (72/72)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931409K22Rik	A	G	5: 24,549,626		probably null	Het
Ankrd35	A	G	3: 96,685,062	E888G	probably damaging	Het
Arhgef10	T	C	8: 14,954,918	F150S	probably damaging	Het
Atp10d	G	T	5: 72,239,157	R235L	probably benign	Het
Cacna1b	A	G	2: 24,763,043	V2A	possibly damaging	Het
Cand1	A	T	10: 119,239,197	L15Q	probably benign	Het
Cavin3	C	A	7: 105,481,143	G154V	probably benign	Het
Ccdc73	A	T	2: 104,991,485	D593V	probably damaging	Het
Cdk5rap2	T	C	4: 70,250,410	K161E	probably damaging	Het
Chil4	A	T	3: 106,203,740	N279K	probably benign	Het
Chst13	T	G	6: 90,318,263	D56A	probably damaging	Het
Cnn1	C	A	9: 22,099,368	H5N	probably benign	Het
Cpsf4l	T	A	11: 113,702,493	K88N	probably damaging	Het
Ctnnbl1	G	T	2: 157,871,193		probably null	Het
Dnah7a	A	C	1: 53,618,116	F834V	probably damaging	Het
Fbxo41	A	G	6: 85,484,181	S182P	probably benign	Het
Fkbp5	T	C	17: 28,415,996	T180A	probably benign	Het
Flg2	T	A	3: 93,220,027	I2082N	unknown	Het
Gm4968	A	G	6: 127,233,762		noncoding transcript	Het
Gpc5	T	A	14: 116,524,335	H612Q	probably benign	Het
Gsg1	A	T	6: 135,241,253	V212D	probably damaging	Het
Hipk1	A	G	3: 103,744,114	V1111A	probably damaging	Het
Hormad1	A	T	3: 95,576,285	Q136L	probably benign	Het
Ifi35	T	A	11: 101,457,685	S147R	probably benign	Het
Iqgap3	C	T	3: 88,090,782	A282V	probably null	Het
Jmy	T	C	13: 93,454,050	D515G	probably damaging	Het
Kctd10	G	A	5: 114,374,923	R64C	probably damaging	Het
Kidins220	T	C	12: 24,990,758	V121A	probably damaging	Het
Lcn3	G	A	2: 25,766,121	V63M	possibly damaging	Het
Lmx1b	T	A	2: 33,639,531	Y72F	probably benign	Het
Lrp1	T	C	10: 127,553,555	D3164G	probably damaging	Het
Mdh1b	C	T	1: 63,719,768	V222M	probably damaging	Het
Mst1	T	C	9: 108,081,503		probably benign	Het
Myo7b	C	A	18: 32,010,079	V189F	probably damaging	Het
Ndc1	T	C	4: 107,393,158	S533P	probably damaging	Het
Ndrg3	T	C	2: 156,944,027	D164G	probably damaging	Het
Nol11	C	T	11: 107,173,628	C500Y	possibly damaging	Het
Nsd3	A	G	8: 25,706,614	N1208D	probably benign	Het
Nup155	C	T	15: 8,156,678		probably benign	Het
Olfr768	A	G	10: 129,093,842	I44T	possibly damaging	Het
Olfr911-ps1	A	G	9: 38,523,785	T18A	probably damaging	Het
Olfr921	A	T	9: 38,775,720	D155V	possibly damaging	Het
Olfr988	A	T	2: 85,353,003	C308S	probably benign	Het
Phf3	A	G	1: 30,805,603	L1425P	probably damaging	Het
Pla2r1	A	G	2: 60,448,906	Y777H	probably damaging	Het
Pld1	A	G	3: 28,031,247	E184G	probably damaging	Het
Plxna1	T	C	6: 89,337,353		probably null	Het
Ptgfrn	T	C	3: 101,043,402	E865G	probably damaging	Het
Ptpn13	G	T	5: 103,589,854		probably benign	Het
Pygb	G	T	2: 150,828,553	V763F	probably benign	Het
Ros1	A	C	10: 52,090,995	Y1705*	probably null	Het
Sec61a2	A	G	2: 5,893,216	F5L	probably benign	Het
Skint5	A	G	4: 113,756,905		probably null	Het
Sntg2	A	G	12: 30,312,567	V60A	probably damaging	Het
Sppl2a	A	G	2: 126,920,322	C280R	possibly damaging	Het
Srrm4	A	C	5: 116,446,544	M1R	probably null	Het
Sult1c1	T	C	17: 53,972,015	E91G	probably damaging	Het
Themis2	C	G	4: 132,785,595	R440P	probably damaging	Het
Tmem229a	A	G	6: 24,955,059	L232P	probably benign	Het
Trappc1	T	C	11: 69,324,422	F43L	probably damaging	Het
Trappc11	A	T	8: 47,498,673	Y982N	possibly damaging	Het
Trpv6	A	T	6: 41,627,405	M139K	probably damaging	Het
Txnrd3	A	G	6: 89,663,075		probably null	Het
Vmn1r184	T	A	7: 26,267,583	Y251*	probably null	Het
Vmn1r216	A	G	13: 23,099,374	N76D	possibly damaging	Het
Vmn1r71	C	A	7: 10,747,865	V233F	probably benign	Het
Vps13a	A	C	19: 16,766,493		probably benign	Het
Wdr36	T	A	18: 32,861,485		probably null	Het
Wdr86	A	G	5: 24,718,307	V129A	probably benign	Het
Zfyve9	A	G	4: 108,719,743	L47S	probably benign	Het

Other mutations in Vwa5b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Vwa5b2	APN	16	20604270	missense	probably benign
IGL01543:Vwa5b2	APN	16	20595716	missense	probably benign	0.02
IGL01719:Vwa5b2	APN	16	20597433	critical splice donor site	probably null
IGL02006:Vwa5b2	APN	16	20597093	missense	probably damaging	0.97
IGL02150:Vwa5b2	APN	16	20604826	missense	probably benign
IGL02301:Vwa5b2	APN	16	20604790	missense	probably damaging	1.00
IGL02373:Vwa5b2	APN	16	20604844	missense	probably damaging	0.99
IGL02413:Vwa5b2	APN	16	20598101	missense	probably damaging	1.00
IGL02664:Vwa5b2	APN	16	20595313	unclassified	probably benign
R1171:Vwa5b2	UTSW	16	20604984	missense	probably benign
R1405:Vwa5b2	UTSW	16	20604316	missense	probably benign	0.00
R1405:Vwa5b2	UTSW	16	20604316	missense	probably benign	0.00
R1464:Vwa5b2	UTSW	16	20596269	missense	probably benign	0.08
R1464:Vwa5b2	UTSW	16	20596269	missense	probably benign	0.08
R1730:Vwa5b2	UTSW	16	20600925	missense	probably damaging	1.00
R1901:Vwa5b2	UTSW	16	20604832	missense	possibly damaging	0.77
R1902:Vwa5b2	UTSW	16	20604832	missense	possibly damaging	0.77
R1903:Vwa5b2	UTSW	16	20604832	missense	possibly damaging	0.77
R1959:Vwa5b2	UTSW	16	20602191	critical splice donor site	probably null
R1961:Vwa5b2	UTSW	16	20602191	critical splice donor site	probably null
R3687:Vwa5b2	UTSW	16	20591558	unclassified	probably benign
R3746:Vwa5b2	UTSW	16	20598326	intron	probably benign
R3747:Vwa5b2	UTSW	16	20598326	intron	probably benign
R3749:Vwa5b2	UTSW	16	20598326	intron	probably benign
R3952:Vwa5b2	UTSW	16	20598361	makesense	probably null
R4641:Vwa5b2	UTSW	16	20604643	missense	probably damaging	1.00
R4646:Vwa5b2	UTSW	16	20596329	missense	probably damaging	1.00
R4772:Vwa5b2	UTSW	16	20600803	splice site	probably null
R5032:Vwa5b2	UTSW	16	20600709	missense	probably damaging	1.00
R5286:Vwa5b2	UTSW	16	20596308	missense	probably damaging	1.00
R5569:Vwa5b2	UTSW	16	20595339	missense	probably damaging	1.00
R5585:Vwa5b2	UTSW	16	20594678	nonsense	probably null
R5640:Vwa5b2	UTSW	16	20597542	missense	probably damaging	1.00
R6330:Vwa5b2	UTSW	16	20601977	missense	probably damaging	1.00
R6459:Vwa5b2	UTSW	16	20594679	missense	probably damaging	0.98
R6992:Vwa5b2	UTSW	16	20598202	missense	probably damaging	1.00
R7102:Vwa5b2	UTSW	16	20604234	missense	probably benign	0.00
R7231:Vwa5b2	UTSW	16	20604128	missense	probably benign	0.00
R7591:Vwa5b2	UTSW	16	20601567	missense	probably damaging	0.96
R7765:Vwa5b2	UTSW	16	20594611	missense	probably benign
R8269:Vwa5b2	UTSW	16	20604438	missense	probably damaging	1.00
R8311:Vwa5b2	UTSW	16	20591222	missense	probably damaging	1.00
R8707:Vwa5b2	UTSW	16	20594215	missense	probably benign	0.01
R8716:Vwa5b2	UTSW	16	20596276	missense	probably benign	0.00
R8815:Vwa5b2	UTSW	16	20600766	missense	probably damaging	1.00
R8965:Vwa5b2	UTSW	16	20596326	missense	possibly damaging	0.72
R9245:Vwa5b2	UTSW	16	20598140	missense	probably damaging	1.00
R9431:Vwa5b2	UTSW	16	20604296	missense	probably benign	0.00
R9536:Vwa5b2	UTSW	16	20595699	missense	probably damaging	1.00
R9695:Vwa5b2	UTSW	16	20604225	missense	probably benign
R9727:Vwa5b2	UTSW	16	20604727	missense	probably damaging	1.00
Z1176:Vwa5b2	UTSW	16	20591253	missense	probably damaging	0.99
Z1177:Vwa5b2	UTSW	16	20600651	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAGAATGACTGTCAGACGGAG -3'
(R):5'- TTTGGTGTCAGAAAACCAGCG -3'

Sequencing Primer
(F):5'- CAGAATGACTGTCAGACGGAGTTAGG -3'
(R):5'- GTCCCATCCAACCCTTACCTGAATC -3'

Posted On

2015-02-18