Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Vwa5b2'

562503

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b2

Ensembl Gene

ENSMUSG00000046613

Gene Name

von Willebrand factor A domain containing 5B2

Synonyms

EG328644

MMRRC Submission

045342-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.131) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20408221-20424127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20422878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 984 (T984A)

Ref Sequence

ENSEMBL: ENSMUSP00000093911 (fasta)

Gene Model

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

probably benign
Transcript: ENSMUST00000096197
AA Change: T984A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: T984A

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: 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: ENSMUST00000159780
AA Change: T984A

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: T984A

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: ENSMUST00000231387

Predicted Effect

probably benign
Transcript: ENSMUST00000231471

Predicted Effect

probably benign
Transcript: ENSMUST00000231531

Predicted Effect

probably benign
Transcript: ENSMUST00000231749

Predicted Effect

probably benign
Transcript: ENSMUST00000231904

Predicted Effect

probably benign
Transcript: ENSMUST00000232319

Predicted Effect

probably benign
Transcript: ENSMUST00000232451

Predicted Effect

probably benign
Transcript: ENSMUST00000232458

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (78/80)

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,244,175 (GRCm39)	T2013S	probably benign	Het
Ablim3	A	G	18: 61,938,135 (GRCm39)		probably null	Het
Acvrl1	T	A	15: 101,034,104 (GRCm39)	C206*	probably null	Het
Adamts15	C	A	9: 30,817,454 (GRCm39)	R541S	probably damaging	Het
Add3	A	G	19: 53,221,577 (GRCm39)	I230V	probably benign	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Asxl3	A	G	18: 22,650,597 (GRCm39)	E862G	probably damaging	Het
Asxl3	A	T	18: 22,544,556 (GRCm39)		probably null	Het
Atp2b2	G	A	6: 113,742,693 (GRCm39)	T798M	possibly damaging	Het
Car12	T	C	9: 66,659,599 (GRCm39)	I208T	probably damaging	Het
Cgn	T	A	3: 94,680,502 (GRCm39)	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,539,927 (GRCm39)	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,949,178 (GRCm39)	V496A	probably benign	Het
Cplx4	C	A	18: 66,090,123 (GRCm39)	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,114,963 (GRCm39)	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,466,894 (GRCm39)	L193P	probably damaging	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Depdc5	C	A	5: 33,059,209 (GRCm39)	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,362,840 (GRCm39)	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,890,892 (GRCm39)	E3218V	probably benign	Het
Dnah9	T	C	11: 65,856,473 (GRCm39)	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,447,022 (GRCm39)	G557*	probably null	Het
Eps8l2	A	G	7: 140,940,305 (GRCm39)	N512D	probably damaging	Het
Fam20a	T	C	11: 109,612,201 (GRCm39)	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,090,353 (GRCm39)	S7P	unknown	Het
Fli1	T	C	9: 32,335,484 (GRCm39)	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Haus8	G	A	8: 71,705,781 (GRCm39)	T302I	probably benign	Het
Hmcn1	T	C	1: 150,514,627 (GRCm39)	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,447,842 (GRCm39)	Q161*	probably null	Het
Hsf4	C	T	8: 105,998,779 (GRCm39)	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,251,636 (GRCm39)	W164R		Het
Isl1	A	G	13: 116,439,826 (GRCm39)	V174A	probably benign	Het
Itih4	A	T	14: 30,618,571 (GRCm39)	I661F	probably benign	Het
Klhl14	A	T	18: 21,785,193 (GRCm39)	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,215,180 (GRCm39)	I177F	unknown	Het
Lingo3	T	A	10: 80,670,938 (GRCm39)	T331S	possibly damaging	Het
Lrrc36	T	C	8: 106,187,689 (GRCm39)	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,342,279 (GRCm39)	S497A	probably benign	Het
Mbip	A	G	12: 56,384,547 (GRCm39)		probably null	Het
Nelfa	C	T	5: 34,056,169 (GRCm39)	G498D	probably damaging	Het
Nherf2	C	T	17: 24,869,078 (GRCm39)	R16H	probably damaging	Het
Nlrc5	T	A	8: 95,248,433 (GRCm39)		probably null	Het
Or2ag2b	A	T	7: 106,417,650 (GRCm39)	Y120F	probably damaging	Het
Or4f59	A	T	2: 111,872,711 (GRCm39)	V222D	probably damaging	Het
Or56a3	T	C	7: 104,734,994 (GRCm39)	S24P	possibly damaging	Het
Or7e171-ps1	T	A	9: 19,852,855 (GRCm39)	T294S	unknown	Het
Pde2a	A	G	7: 101,155,160 (GRCm39)	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,777,891 (GRCm39)	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,700,389 (GRCm39)	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,633,492 (GRCm39)	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,994,986 (GRCm39)	Y572N	probably benign	Het
Prkcq	T	A	2: 11,295,262 (GRCm39)	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062 (GRCm39)	D226V	probably damaging	Het
Rab1b	A	G	19: 5,155,229 (GRCm39)	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,650,976 (GRCm39)	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Samd15	T	A	12: 87,247,818 (GRCm39)	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,597,945 (GRCm39)	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,159,097 (GRCm39)	H141Q	probably benign	Het
Snx21	T	C	2: 164,628,121 (GRCm39)	S46P	probably benign	Het
Strip2	A	G	6: 29,944,486 (GRCm39)	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,708,125 (GRCm39)	P392L	probably damaging	Het
Suclg1	G	A	6: 73,240,954 (GRCm39)	R161H	probably benign	Het
Tas1r3	T	C	4: 155,947,283 (GRCm39)	Y134C	probably damaging	Het
Tgif1	T	A	17: 71,153,168 (GRCm39)	Q114L	probably damaging	Het
Tll2	A	G	19: 41,074,673 (GRCm39)	F964L	probably benign	Het
Tmem181a	T	C	17: 6,348,195 (GRCm39)	S247P	possibly damaging	Het
Trav23	A	T	14: 54,215,025 (GRCm39)	R79S	probably damaging	Het
Trf	C	A	9: 103,102,347 (GRCm39)	C177F	probably damaging	Het
Triml1	T	C	8: 43,589,408 (GRCm39)	Y260C	probably benign	Het
Tulp4	T	C	17: 6,286,510 (GRCm39)	F1513L	probably benign	Het
Umodl1	G	A	17: 31,205,090 (GRCm39)	V562I	probably damaging	Het
Ush2a	A	G	1: 188,491,960 (GRCm39)	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,580,888 (GRCm39)	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,100,637 (GRCm39)	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 9,787,010 (GRCm39)	N32K	probably benign	Het
Vps13d	A	G	4: 144,784,032 (GRCm39)	V3914A		Het
Zc3h3	C	T	15: 75,712,231 (GRCm39)	V77M	probably damaging	Het
Zfp397	A	T	18: 24,093,415 (GRCm39)	H300L	probably damaging	Het
Zfp950	G	A	19: 61,107,650 (GRCm39)	R478C	probably benign	Het

Other mutations in Vwa5b2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Vwa5b2	APN	16	20,423,020 (GRCm39)	missense	probably benign
IGL01543:Vwa5b2	APN	16	20,414,466 (GRCm39)	missense	probably benign	0.02
IGL01719:Vwa5b2	APN	16	20,416,183 (GRCm39)	critical splice donor site	probably null
IGL02006:Vwa5b2	APN	16	20,415,843 (GRCm39)	missense	probably damaging	0.97
IGL02150:Vwa5b2	APN	16	20,423,576 (GRCm39)	missense	probably benign
IGL02301:Vwa5b2	APN	16	20,423,540 (GRCm39)	missense	probably damaging	1.00
IGL02373:Vwa5b2	APN	16	20,423,594 (GRCm39)	missense	probably damaging	0.99
IGL02413:Vwa5b2	APN	16	20,416,851 (GRCm39)	missense	probably damaging	1.00
IGL02664:Vwa5b2	APN	16	20,414,063 (GRCm39)	unclassified	probably benign
R1171:Vwa5b2	UTSW	16	20,423,734 (GRCm39)	missense	probably benign
R1405:Vwa5b2	UTSW	16	20,423,066 (GRCm39)	missense	probably benign	0.00
R1405:Vwa5b2	UTSW	16	20,423,066 (GRCm39)	missense	probably benign	0.00
R1464:Vwa5b2	UTSW	16	20,415,019 (GRCm39)	missense	probably benign	0.08
R1464:Vwa5b2	UTSW	16	20,415,019 (GRCm39)	missense	probably benign	0.08
R1730:Vwa5b2	UTSW	16	20,419,675 (GRCm39)	missense	probably damaging	1.00
R1901:Vwa5b2	UTSW	16	20,423,582 (GRCm39)	missense	possibly damaging	0.77
R1902:Vwa5b2	UTSW	16	20,423,582 (GRCm39)	missense	possibly damaging	0.77
R1903:Vwa5b2	UTSW	16	20,423,582 (GRCm39)	missense	possibly damaging	0.77
R1959:Vwa5b2	UTSW	16	20,420,941 (GRCm39)	critical splice donor site	probably null
R1961:Vwa5b2	UTSW	16	20,420,941 (GRCm39)	critical splice donor site	probably null
R3522:Vwa5b2	UTSW	16	20,420,358 (GRCm39)	missense	probably damaging	0.99
R3687:Vwa5b2	UTSW	16	20,410,308 (GRCm39)	unclassified	probably benign
R3746:Vwa5b2	UTSW	16	20,417,076 (GRCm39)	intron	probably benign
R3747:Vwa5b2	UTSW	16	20,417,076 (GRCm39)	intron	probably benign
R3749:Vwa5b2	UTSW	16	20,417,076 (GRCm39)	intron	probably benign
R3952:Vwa5b2	UTSW	16	20,417,111 (GRCm39)	makesense	probably null
R4641:Vwa5b2	UTSW	16	20,423,393 (GRCm39)	missense	probably damaging	1.00
R4646:Vwa5b2	UTSW	16	20,415,079 (GRCm39)	missense	probably damaging	1.00
R4772:Vwa5b2	UTSW	16	20,419,553 (GRCm39)	splice site	probably null
R5032:Vwa5b2	UTSW	16	20,419,459 (GRCm39)	missense	probably damaging	1.00
R5286:Vwa5b2	UTSW	16	20,415,058 (GRCm39)	missense	probably damaging	1.00
R5569:Vwa5b2	UTSW	16	20,414,089 (GRCm39)	missense	probably damaging	1.00
R5585:Vwa5b2	UTSW	16	20,413,428 (GRCm39)	nonsense	probably null
R5640:Vwa5b2	UTSW	16	20,416,292 (GRCm39)	missense	probably damaging	1.00
R6330:Vwa5b2	UTSW	16	20,420,727 (GRCm39)	missense	probably damaging	1.00
R6459:Vwa5b2	UTSW	16	20,413,429 (GRCm39)	missense	probably damaging	0.98
R6992:Vwa5b2	UTSW	16	20,416,952 (GRCm39)	missense	probably damaging	1.00
R7102:Vwa5b2	UTSW	16	20,422,984 (GRCm39)	missense	probably benign	0.00
R7591:Vwa5b2	UTSW	16	20,420,317 (GRCm39)	missense	probably damaging	0.96
R7765:Vwa5b2	UTSW	16	20,413,361 (GRCm39)	missense	probably benign
R8269:Vwa5b2	UTSW	16	20,423,188 (GRCm39)	missense	probably damaging	1.00
R8311:Vwa5b2	UTSW	16	20,409,972 (GRCm39)	missense	probably damaging	1.00
R8707:Vwa5b2	UTSW	16	20,412,965 (GRCm39)	missense	probably benign	0.01
R8716:Vwa5b2	UTSW	16	20,415,026 (GRCm39)	missense	probably benign	0.00
R8815:Vwa5b2	UTSW	16	20,419,516 (GRCm39)	missense	probably damaging	1.00
R8965:Vwa5b2	UTSW	16	20,415,076 (GRCm39)	missense	possibly damaging	0.72
R9245:Vwa5b2	UTSW	16	20,416,890 (GRCm39)	missense	probably damaging	1.00
R9431:Vwa5b2	UTSW	16	20,423,046 (GRCm39)	missense	probably benign	0.00
R9536:Vwa5b2	UTSW	16	20,414,449 (GRCm39)	missense	probably damaging	1.00
R9695:Vwa5b2	UTSW	16	20,422,975 (GRCm39)	missense	probably benign
R9727:Vwa5b2	UTSW	16	20,423,477 (GRCm39)	missense	probably damaging	1.00
Z1176:Vwa5b2	UTSW	16	20,410,003 (GRCm39)	missense	probably damaging	0.99
Z1177:Vwa5b2	UTSW	16	20,419,401 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTTGCTGTAGATGCTACCAC -3'
(R):5'- AGCCATGATGATCTCCAGTAGG -3'

Sequencing Primer
(F):5'- TACCACTAGGGAGGTATTGCC -3'
(R):5'- TCCAGTAGGAGATATGGGCTC -3'

Posted On

2019-06-26