Mutagenetix > Incidental Mutation

Incidental Mutation 'R5569:Vwa5b2'

435570

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b2

Ensembl Gene

ENSMUSG00000046613

Gene Name

von Willebrand factor A domain containing 5B2

Synonyms

EG328644

MMRRC Submission

043126-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.124) question?

Stock #

R5569 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

20408221-20424127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 20414089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 236 (H236Q)

Ref Sequence

ENSEMBL: ENSMUSP00000123727 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096197] [ENSMUST00000100074] [ENSMUST00000149236] [ENSMUST00000159780] [ENSMUST00000161257] [ENSMUST00000232279] [ENSMUST00000232474]

AlphaFold

Q3UR50

Predicted Effect

probably damaging
Transcript: ENSMUST00000096197
AA Change: H236Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: H236Q

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: H236Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097652
Gene: ENSMUSG00000046613
AA Change: H236Q

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: H236Q

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

SMART Domains

Protein: ENSMUSP00000124117
Gene: ENSMUSG00000046613
AA Change: H236Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159736

Predicted Effect

probably damaging
Transcript: ENSMUST00000159780
AA Change: H236Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: H236Q

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: ENSMUST00000161257

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162919

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161715

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232229

Predicted Effect

probably benign
Transcript: ENSMUST00000232279

Predicted Effect

probably benign
Transcript: ENSMUST00000232474

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,764,143 (GRCm39)	S929P	probably damaging	Het
Ackr3	A	G	1: 90,142,563 (GRCm39)	T341A	probably benign	Het
Acox3	A	G	5: 35,760,377 (GRCm39)	Y431C	probably damaging	Het
Adamtsl2	G	A	2: 26,992,845 (GRCm39)	V653M	probably damaging	Het
Anks6	T	C	4: 47,045,007 (GRCm39)	K300E	probably damaging	Het
Ap5z1	A	T	5: 142,460,206 (GRCm39)	D495V	probably damaging	Het
Atm	A	T	9: 53,427,750 (GRCm39)	Y453*	probably null	Het
Atpaf2	A	T	11: 60,307,706 (GRCm39)	W11R	probably damaging	Het
Bhmt1b	A	C	18: 87,775,392 (GRCm39)	Y305S	probably damaging	Het
Capn1	T	A	19: 6,063,690 (GRCm39)	T129S	probably benign	Het
Catspere2	A	T	1: 177,939,162 (GRCm39)	K678N	possibly damaging	Het
Cdh17	A	G	4: 11,816,990 (GRCm39)	I800M	probably damaging	Het
Cfap206	C	T	4: 34,724,892 (GRCm39)	R69Q	probably damaging	Het
Cp	T	C	3: 20,033,041 (GRCm39)	Y623H	probably damaging	Het
Dcaf5	A	T	12: 80,386,975 (GRCm39)	Y384N	probably damaging	Het
Dhx9	A	T	1: 153,342,838 (GRCm39)	C555S	possibly damaging	Het
Dlg2	A	G	7: 91,617,388 (GRCm39)	T317A	probably benign	Het
Dsp	C	T	13: 38,376,628 (GRCm39)	T1471I	probably benign	Het
Ebf1	A	G	11: 44,883,228 (GRCm39)	M489V	possibly damaging	Het
Enpp3	T	C	10: 24,654,719 (GRCm39)	D230G	probably damaging	Het
Eri3	T	C	4: 117,506,553 (GRCm39)	M294T	possibly damaging	Het
Fat1	T	A	8: 45,492,873 (GRCm39)	V3842E	probably damaging	Het
Fermt1	T	A	2: 132,757,123 (GRCm39)	Y569F	possibly damaging	Het
Fscn1	A	G	5: 142,946,799 (GRCm39)	D199G	probably benign	Het
Glce	A	G	9: 61,977,485 (GRCm39)	V133A	probably benign	Het
Gtf2h3	C	T	5: 124,722,360 (GRCm39)	T121I	probably benign	Het
Hk1	A	G	10: 62,122,220 (GRCm39)	S520P	probably benign	Het
Ighv12-3	A	G	12: 114,330,555 (GRCm39)	V7A	probably benign	Het
Ighv6-7	C	A	12: 114,419,476 (GRCm39)	A43S	probably damaging	Het
Inf2	A	G	12: 112,568,113 (GRCm39)	I222V	possibly damaging	Het
Kmo	T	A	1: 175,482,688 (GRCm39)	N337K	probably benign	Het
Mcf2l	C	T	8: 13,055,481 (GRCm39)	R611W	probably damaging	Het
Mipep	A	T	14: 61,040,383 (GRCm39)	H301L	probably damaging	Het
Mprip	A	T	11: 59,651,789 (GRCm39)	E1831V	probably damaging	Het
Mrgpra3	T	C	7: 47,239,759 (GRCm39)	T56A	probably benign	Het
Mtmr14	G	A	6: 113,217,246 (GRCm39)	V53I	probably damaging	Het
Mycbp2	A	T	14: 103,372,679 (GRCm39)	W4056R	probably damaging	Het
Myl2	A	T	5: 122,244,783 (GRCm39)	D151V	possibly damaging	Het
Myo5c	A	T	9: 75,180,792 (GRCm39)	D727V	probably damaging	Het
Or10s1	A	G	9: 39,985,593 (GRCm39)	M1V	probably null	Het
Or1e22	A	T	11: 73,377,518 (GRCm39)	I44N	probably damaging	Het
Or2ag12	A	T	7: 106,277,690 (GRCm39)	M1K	probably null	Het
Or56b1b	T	A	7: 108,164,772 (GRCm39)	M77L	probably benign	Het
Or9s18	A	G	13: 65,300,793 (GRCm39)	T252A	possibly damaging	Het
Pabpc1l	C	T	2: 163,885,474 (GRCm39)	T409I	probably benign	Het
Pcgf1	C	T	6: 83,056,686 (GRCm39)	R81*	probably null	Het
Pcgf2	A	G	11: 97,583,193 (GRCm39)		probably null	Het
Phf14	T	A	6: 11,934,015 (GRCm39)	N292K	probably damaging	Het
Plin4	T	C	17: 56,409,147 (GRCm39)	T1358A	probably benign	Het
Pomgnt1	T	C	4: 116,013,164 (GRCm39)	S423P	probably damaging	Het
Prep	G	A	10: 44,973,533 (GRCm39)	V214I	probably benign	Het
Ptger1	T	C	8: 84,394,961 (GRCm39)		probably null	Het
Pus7	C	T	5: 23,953,832 (GRCm39)	G415D	probably benign	Het
Rbm44	C	T	1: 91,096,460 (GRCm39)	P940S	probably damaging	Het
Ripor1	A	T	8: 106,344,147 (GRCm39)	D427V	probably damaging	Het
Rp1	A	G	1: 4,415,460 (GRCm39)	I1884T	probably damaging	Het
Rpl15-ps6	T	C	15: 52,341,624 (GRCm39)		noncoding transcript	Het
Serinc2	T	C	4: 130,172,272 (GRCm39)	R7G	probably benign	Het
Serpina6	A	C	12: 103,620,719 (GRCm39)	F10C	possibly damaging	Het
Skint5	T	A	4: 113,545,903 (GRCm39)		probably null	Het
Slc66a3	T	A	12: 17,045,629 (GRCm39)	I114F	possibly damaging	Het
Slc6a4	A	T	11: 76,914,081 (GRCm39)	I544F	possibly damaging	Het
Spdye4b	T	C	5: 143,188,176 (GRCm39)	M223T	probably benign	Het
Tbc1d17	A	T	7: 44,497,755 (GRCm39)	V39D	probably damaging	Het
Thbs3	T	A	3: 89,126,770 (GRCm39)	Y295N	probably damaging	Het
Themis	G	A	10: 28,657,887 (GRCm39)	E152K	possibly damaging	Het
Tmem131	A	T	1: 36,838,419 (GRCm39)	I1502N	probably benign	Het
Tmem43	T	A	6: 91,454,336 (GRCm39)	M41K	probably benign	Het
Tmprss6	A	C	15: 78,324,503 (GRCm39)	W771G	probably damaging	Het
Trp53tg5	T	C	2: 164,313,256 (GRCm39)	T140A	probably benign	Het
Uchl1	A	G	5: 66,844,216 (GRCm39)	E206G	probably damaging	Het
Vash2	A	G	1: 190,692,488 (GRCm39)	V229A	possibly damaging	Het
Vmn1r192	C	A	13: 22,371,384 (GRCm39)	A279S	possibly damaging	Het
Vmn1r32	T	C	6: 66,530,156 (GRCm39)	R207G	probably damaging	Het
Vmn2r14	T	A	5: 109,368,261 (GRCm39)	M244L	probably benign	Het
Zfp652	C	T	11: 95,640,116 (GRCm39)	P14S	probably benign	Het
Zfp668	G	A	7: 127,466,995 (GRCm39)	R194*	probably null	Het
Zgrf1	G	T	3: 127,354,674 (GRCm39)	V98L	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
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'- GTCCTTCCTTGTCTGGATAAGC -3'
(R):5'- CATTGAAAACTGCTTCCACGC -3'

Sequencing Primer
(F):5'- GTCTGGATAAGCCTGTATAAGCC -3'
(R):5'- ATCAGAACTAGCCTACTGTGTGC -3'

Posted On

2016-10-24