Mutagenetix > Incidental Mutation

Incidental Mutation 'R4646:Vwa5b2'

500699

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b2

Ensembl Gene

ENSMUSG00000046613

Gene Name

von Willebrand factor A domain containing 5B2

Synonyms

EG328644

MMRRC Submission

041907-MU

Accession Numbers

Essential gene?

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

Stock #

R4646 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

20408221-20424127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20415079 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 367 (K367R)

Ref Sequence

ENSEMBL: ENSMUSP00000123727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096197] [ENSMUST00000100074] [ENSMUST00000149236] [ENSMUST00000159780] [ENSMUST00000232279] [ENSMUST00000232474]

AlphaFold

Q3UR50

Predicted Effect

probably damaging
Transcript: ENSMUST00000096197
AA Change: K367R

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

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: K367R

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 damaging
Transcript: ENSMUST00000100074
AA Change: K367R

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

SMART Domains

Protein: ENSMUSP00000097652
Gene: ENSMUSG00000046613
AA Change: K367R

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: ENSMUST00000145483

Predicted Effect

probably damaging
Transcript: ENSMUST00000149236
AA Change: K367R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000124117
Gene: ENSMUSG00000046613
AA Change: K367R

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: K367R

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

SMART Domains

Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: K367R

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: ENSMUST00000232279

Predicted Effect

probably benign
Transcript: ENSMUST00000232474

Coding Region Coverage

1x: 99.0%
3x: 98.6%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 102 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700031F05Rik	G	T	X: 101,904,515 (GRCm39)	N132K	possibly damaging	Het
2010315B03Rik	T	A	9: 124,056,228 (GRCm39)	Y232F	probably benign	Het
Acadl	A	T	1: 66,870,602 (GRCm39)	S428R	probably benign	Het
Adamts10	A	G	17: 33,764,529 (GRCm39)	D683G	probably damaging	Het
Angptl4	G	A	17: 34,000,273 (GRCm39)	P32S	probably benign	Het
Apob	A	G	12: 8,062,759 (GRCm39)	N134S	probably benign	Het
Atr	G	A	9: 95,753,250 (GRCm39)		probably null	Het
B4galnt1	G	A	10: 127,003,705 (GRCm39)	V223M	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
C1galt1c1	A	T	X: 37,720,349 (GRCm39)	S216T	probably benign	Het
C2cd3	A	C	7: 100,021,657 (GRCm39)		probably benign	Het
Clca4b	A	C	3: 144,634,286 (GRCm39)	H102Q	probably benign	Het
Cntrl	T	C	2: 35,039,473 (GRCm39)	I557T	probably damaging	Het
Col26a1	G	A	5: 136,876,404 (GRCm39)	S72F	probably damaging	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Csmd1	T	C	8: 15,982,511 (GRCm39)	I2719V	possibly damaging	Het
Cul9	C	T	17: 46,849,943 (GRCm39)	W502*	probably null	Het
Dazl	A	T	17: 50,595,183 (GRCm39)	F84I	probably damaging	Het
Dcaf1	G	T	9: 106,724,006 (GRCm39)	R478L	probably benign	Het
Dock5	T	G	14: 68,080,228 (GRCm39)	I198L	probably benign	Het
Dock9	A	T	14: 121,823,658 (GRCm39)	L1428H	probably damaging	Het
Dync1li1	T	A	9: 114,538,237 (GRCm39)	V198E	probably damaging	Het
Egf	A	T	3: 129,513,925 (GRCm39)	C429S	probably damaging	Het
Ehmt1	T	C	2: 24,781,696 (GRCm39)	E7G	probably null	Het
Ercc4	G	T	16: 12,965,438 (GRCm39)	R690L	probably damaging	Het
Erich5	T	C	15: 34,471,112 (GRCm39)	C114R	possibly damaging	Het
Etv1	T	C	12: 38,915,685 (GRCm39)	S428P	possibly damaging	Het
Fbxo31	G	T	8: 122,286,755 (GRCm39)	F174L	probably benign	Het
Fbxo33	T	A	12: 59,251,217 (GRCm39)	I433L	probably benign	Het
Fez2	A	T	17: 78,720,357 (GRCm39)	V99E	probably damaging	Het
Gabarapl2	A	C	8: 112,669,185 (GRCm39)	K48Q	probably damaging	Het
Gfi1b	T	A	2: 28,500,149 (GRCm39)	H294L	probably damaging	Het
Gk2	A	G	5: 97,604,056 (GRCm39)	S261P	probably damaging	Het
Gpr158	T	C	2: 21,831,864 (GRCm39)	I988T	probably benign	Het
Grk3	G	C	5: 113,077,586 (GRCm39)	H394D	probably benign	Het
Grm6	A	G	11: 50,748,033 (GRCm39)	E381G	probably benign	Het
Gtf3c1	A	T	7: 125,258,266 (GRCm39)	M1268K	possibly damaging	Het
Hikeshi	A	T	7: 89,572,854 (GRCm39)	I113N	probably damaging	Het
Hmg20b	T	A	10: 81,184,416 (GRCm39)	Q129L	probably damaging	Het
Hunk	C	A	16: 90,272,791 (GRCm39)	T365K	probably damaging	Het
Ints15	A	T	5: 143,293,740 (GRCm39)	W246R	probably damaging	Het
Kdm5a	T	G	6: 120,351,938 (GRCm39)	V176G	possibly damaging	Het
Kif2a	T	A	13: 107,098,693 (GRCm39)	E691V	probably damaging	Het
Ly6e	T	C	15: 74,830,510 (GRCm39)		probably null	Het
Map1b	G	T	13: 99,568,977 (GRCm39)	P1248Q	unknown	Het
Mettl25	A	G	10: 105,662,416 (GRCm39)	S185P	probably damaging	Het
Mfap3l	T	A	8: 61,124,184 (GRCm39)	V142D	probably damaging	Het
Mip	T	A	10: 128,062,922 (GRCm39)	H122Q	probably benign	Het
Mkx	G	A	18: 6,992,040 (GRCm39)	T280I	probably benign	Het
Msi1	A	T	5: 115,589,514 (GRCm39)		probably null	Het
Mtcl2	T	C	2: 156,862,426 (GRCm39)	E1501G	probably damaging	Het
Muc5b	A	G	7: 141,416,377 (GRCm39)	M3108V	probably benign	Het
Mybl1	A	G	1: 9,742,511 (GRCm39)	S625P	probably damaging	Het
Myo7b	C	A	18: 32,127,422 (GRCm39)	V627F	probably benign	Het
Ndst3	A	T	3: 123,465,684 (GRCm39)	I96N	probably damaging	Het
Nrp1	A	T	8: 129,184,425 (GRCm39)	T357S	probably benign	Het
Obscn	G	T	11: 59,015,396 (GRCm39)	Y1050*	probably null	Het
Or2ak7	A	G	11: 58,575,556 (GRCm39)	N286D	probably damaging	Het
Or2d4	A	T	7: 106,543,547 (GRCm39)	N220K	probably benign	Het
Or2y1c	A	C	11: 49,361,451 (GRCm39)	I158L	probably benign	Het
Or4c107	T	A	2: 88,789,556 (GRCm39)	F249I	probably damaging	Het
Or5d47	A	T	2: 87,804,142 (GRCm39)	I289K	probably benign	Het
Or5i1	T	C	2: 87,613,565 (GRCm39)	V227A	possibly damaging	Het
Otof	T	C	5: 30,540,914 (GRCm39)	E875G	possibly damaging	Het
Pick1	A	T	15: 79,133,137 (GRCm39)	D399V	probably benign	Het
Pik3c2g	T	A	6: 139,665,744 (GRCm39)	S22T	probably benign	Het
Pnpla2	A	G	7: 141,038,574 (GRCm39)	E276G	possibly damaging	Het
Pomk	A	T	8: 26,473,633 (GRCm39)	S107T	probably damaging	Het
Rbm46	A	T	3: 82,771,765 (GRCm39)	D283E	probably benign	Het
Rimbp3	A	G	16: 17,030,962 (GRCm39)	D1462G	probably damaging	Het
Rnf112	T	A	11: 61,342,936 (GRCm39)	E230V	probably damaging	Het
Rock1	T	C	18: 10,112,391 (GRCm39)	T455A	probably benign	Het
Rtp4	A	T	16: 23,428,790 (GRCm39)	M18L	probably benign	Het
Scaf11	A	T	15: 96,317,981 (GRCm39)		probably null	Het
Schip1	T	C	3: 67,972,297 (GRCm39)	V8A	probably benign	Het
Sec31b	T	C	19: 44,515,060 (GRCm39)	H351R	probably benign	Het
Sh3bp5l	A	G	11: 58,237,177 (GRCm39)	D378G	probably benign	Het
Sowahb	T	C	5: 93,190,715 (GRCm39)	D668G	probably damaging	Het
Spam1	A	G	6: 24,800,586 (GRCm39)	T442A	probably benign	Het
Syt14	T	A	1: 192,615,633 (GRCm39)	Y451F	probably damaging	Het
Tafa5	T	G	15: 87,604,783 (GRCm39)	S115A	probably damaging	Het
Tdh	A	G	14: 63,731,205 (GRCm39)	L323P	possibly damaging	Het
Tet2	A	T	3: 133,193,843 (GRCm39)	M197K	probably benign	Het
Thbs1	G	A	2: 117,948,810 (GRCm39)	A489T	probably benign	Het
Tnfaip1	C	T	11: 78,420,008 (GRCm39)	R88Q	probably damaging	Het
Tnn	T	C	1: 159,973,612 (GRCm39)	M252V	probably benign	Het
Trdn	G	T	10: 33,071,977 (GRCm39)	E215*	probably null	Het
Trim55	T	C	3: 19,725,286 (GRCm39)	F268L	probably benign	Het
Trmt112	T	A	19: 6,887,816 (GRCm39)	V55E	possibly damaging	Het
Tube1	A	G	10: 39,018,363 (GRCm39)	M147V	possibly damaging	Het
Ubn1	A	G	16: 4,895,851 (GRCm39)	T966A	probably damaging	Het
Unc80	A	G	1: 66,708,394 (GRCm39)	I2651V	probably benign	Het
Vmn1r172	G	A	7: 23,359,919 (GRCm39)	R268H	probably benign	Het
Vmn1r231	T	A	17: 21,110,571 (GRCm39)	I115F	probably damaging	Het
Vmn1r237	A	G	17: 21,534,400 (GRCm39)	K41R	probably benign	Het
Vmn2r58	A	T	7: 41,509,935 (GRCm39)	N547K	probably damaging	Het
Vmn2r74	T	C	7: 85,606,782 (GRCm39)	D188G	probably benign	Het
Washc4	T	A	10: 83,410,407 (GRCm39)	M665K	possibly damaging	Het
Wbp11	T	A	6: 136,798,189 (GRCm39)	Y236F	probably benign	Het
Wbp4	T	A	14: 79,709,801 (GRCm39)	I145F	possibly damaging	Het
Wwc2	C	A	8: 48,373,636 (GRCm39)	D77Y	probably damaging	Het
Zpld2	G	A	4: 133,929,459 (GRCm39)	A282V	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
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
R7231:Vwa5b2	UTSW	16	20,422,878 (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'- GGTAGACAACACCCATGCTG -3'
(R):5'- GCTCTTGGAGTCTGGGAAAG -3'

Sequencing Primer
(F):5'- GCCCCCTCTAAGTGAATCGGATAG -3'
(R):5'- AACAAGGTAACTCCTGGC -3'

Posted On

2017-12-01