Mutagenetix > Incidental Mutation

Incidental Mutation 'R1961:Vwa5b2'

317976

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b2

Ensembl Gene

ENSMUSG00000046613

Gene Name

von Willebrand factor A domain containing 5B2

Synonyms

EG328644

MMRRC Submission

039975-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

20589471-20605377 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 20602191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093911 (fasta)

Gene Model

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

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 null
Transcript: ENSMUST00000096197

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613

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 null
Transcript: ENSMUST00000096197

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613

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

silent
Transcript: ENSMUST00000159780

SMART Domains

Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613

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

noncoding transcript
Transcript: ENSMUST00000231608

Predicted Effect

probably benign
Transcript: ENSMUST00000232458

Predicted Effect

probably benign
Transcript: ENSMUST00000231387

Predicted Effect

probably benign
Transcript: ENSMUST00000231749

Predicted Effect

probably benign
Transcript: ENSMUST00000232319

Predicted Effect

probably benign
Transcript: ENSMUST00000232451

Predicted Effect

probably benign
Transcript: ENSMUST00000231904

Predicted Effect

probably benign
Transcript: ENSMUST00000231471

Predicted Effect

probably benign
Transcript: ENSMUST00000231531

Meta Mutation Damage Score

0.9492

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (93/94)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,269	S265P	possibly damaging	Het
3110001I22Rik	T	A	16: 13,677,728	H230Q	probably benign	Het
Abcc1	T	C	16: 14,396,393	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,611,456	G495C	probably damaging	Het
Abcc4	C	A	14: 118,611,459	V494L	possibly damaging	Het
Acsm4	T	C	7: 119,708,740	Y367H	probably benign	Het
Adam21	A	T	12: 81,559,508	Y493*	probably null	Het
Add2	T	C	6: 86,096,756	F209S	probably damaging	Het
Adgre4	T	C	17: 55,791,497	S136P	probably benign	Het
Aff4	T	G	11: 53,372,999	L282R	probably damaging	Het
Akt3	A	G	1: 177,096,995	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,041,015	Y174C	probably damaging	Het
Atl1	A	G	12: 69,953,500	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,644,525		probably null	Het
Btrc	T	G	19: 45,527,343	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,630,322	I1366N	probably benign	Het
Ccdc113	T	A	8: 95,540,831	N141K	probably benign	Het
Ccdc167	T	C	17: 29,704,431	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,313,646		probably benign	Het
Cenpe	A	G	3: 135,242,493	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,350,481	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,687,377	F230I	probably damaging	Het
Exog	A	G	9: 119,452,266	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,590,334	W30R	probably benign	Het
Fam172a	C	A	13: 77,902,720	H50N	probably benign	Het
Fndc3b	G	A	3: 27,456,451	Q841*	probably null	Het
Frzb	T	A	2: 80,424,601	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gabrb1	G	A	5: 71,700,336	R43Q	probably benign	Het
Gm21060	A	T	19: 61,297,007	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,511,044		noncoding transcript	Het
Gm5581	A	C	6: 131,168,162		noncoding transcript	Het
Gm9894	T	C	13: 67,763,915		noncoding transcript	Het
Gpr15	T	A	16: 58,718,007	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546		probably benign	Het
Grid2	T	C	6: 63,908,893	L91S	probably damaging	Het
Igsf5	A	C	16: 96,378,351	T215P	probably damaging	Het
Kif13a	G	A	13: 46,864,838		probably benign	Het
Kif21a	G	A	15: 90,970,848	A703V	probably damaging	Het
Kif27	T	G	13: 58,293,123	R1159S	probably benign	Het
Kifc2	T	A	15: 76,662,825	L226H	probably damaging	Het
Klf10	T	C	15: 38,295,996	H435R	probably damaging	Het
Masp1	T	C	16: 23,452,932	Y623C	probably damaging	Het
Megf10	T	A	18: 57,212,354	C118S	probably damaging	Het
Mical3	A	G	6: 120,982,607	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,398,475		probably null	Het
Mpeg1	G	A	19: 12,462,911	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,327,738	E553G	probably damaging	Het
Nmi	A	T	2: 51,948,620	S301T	probably benign	Het
Nr2f2	G	T	7: 70,358,155	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,197,098	N404S	probably damaging	Het
Olfr54	T	G	11: 51,027,475	S158A	probably benign	Het
Olfr594	T	C	7: 103,219,997	V93A	probably benign	Het
Oplah	G	A	15: 76,297,464	T1119I	probably damaging	Het
Otoa	T	A	7: 121,118,569	D336E	probably benign	Het
Pde4b	A	G	4: 102,597,460	E108G	probably damaging	Het
Pdgfrb	G	A	18: 61,061,505	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Pla2g3	C	T	11: 3,490,983	T316I	probably benign	Het
Plekhg4	A	G	8: 105,381,464	E982G	probably damaging	Het
Pmfbp1	T	G	8: 109,530,144		probably benign	Het
Pot1b	A	T	17: 55,662,531	Y546N	probably damaging	Het
Rab11fip5	C	A	6: 85,348,991	Q144H	possibly damaging	Het
Reep3	A	T	10: 67,039,499		probably null	Het
Rgl2	T	C	17: 33,933,615	L400P	probably damaging	Het
Rnf122	A	G	8: 31,124,846		probably benign	Het
Scgb1b21	G	T	7: 33,527,378		noncoding transcript	Het
Sec63	A	T	10: 42,823,886	K647N	probably damaging	Het
Sema4a	C	T	3: 88,438,176		probably benign	Het
Serpinf1	C	T	11: 75,416,419	V31I	probably benign	Het
Sez6l	C	T	5: 112,424,615		probably benign	Het
Shank3	T	C	15: 89,557,964	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,022,798	T166M	probably benign	Het
Slc22a29	C	A	19: 8,169,193	R415M	probably benign	Het
Slc38a11	A	T	2: 65,330,339	F304I	possibly damaging	Het
Slitrk1	T	A	14: 108,912,190	N363I	probably damaging	Het
Slx4ip	A	G	2: 137,067,681	T129A	probably benign	Het
Spop	T	C	11: 95,491,711	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,358,880	D147E	probably benign	Het
Tnpo1	T	C	13: 98,852,932	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,480,224	F45V	probably damaging	Het
Ttc27	T	A	17: 74,780,856	M472K	probably damaging	Het
Ttll7	A	G	3: 146,915,795		probably benign	Het
Ttn	A	T	2: 76,721,760	C22851S	probably benign	Het
Ttn	T	A	2: 76,798,212	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,640,262	T54A	probably benign	Het
Usp33	T	C	3: 152,380,628	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,481,071	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,798,095	M549L	probably benign	Het
Wnk1	T	C	6: 119,969,247	I648M	probably damaging	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
R3522:Vwa5b2	UTSW	16	20601608	missense	probably damaging	0.99
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'- TGGGCTGGAAGAACTCTGG -3'
(R):5'- GCACATGTGACTGTTTTCTTTTC -3'

Sequencing Primer
(F):5'- TGGAAGAACTCTGGGGTCC -3'
(R):5'- TTGAACCTGGGTCCTCTAGAACAG -3'

Posted On

2015-05-19