Mutagenetix > Incidental Mutation

Incidental Mutation 'R1901:Vwa5b2'

212259

Institutional Source

Beutler Lab

Gene Symbol

Vwa5b2

Ensembl Gene

ENSMUSG00000046613

Gene Name

von Willebrand factor A domain containing 5B2

Synonyms

EG328644

MMRRC Submission

039921-MU

Accession Numbers

Essential gene?

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

Stock #

R1901 (G1)

Quality Score

211

Status

Not validated

Chromosome

Chromosomal Location

20408221-20424127 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 20423582 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 1165 (S1165I)

Ref Sequence

ENSEMBL: ENSMUSP00000123727 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000096197
AA Change: S1165I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000093911
Gene: ENSMUSG00000046613
AA Change: S1165I

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

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

possibly damaging
Transcript: ENSMUST00000159780
AA Change: S1165I

PolyPhen 2 Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123727
Gene: ENSMUSG00000046613
AA Change: S1165I

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: ENSMUST00000231531

Predicted Effect

probably benign
Transcript: ENSMUST00000231386

Predicted Effect

probably benign
Transcript: ENSMUST00000231387

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231608

Predicted Effect

probably benign
Transcript: ENSMUST00000232458

Predicted Effect

probably benign
Transcript: ENSMUST00000231362

Predicted Effect

probably benign
Transcript: ENSMUST00000231749

Predicted Effect

probably benign
Transcript: ENSMUST00000232451

Predicted Effect

probably benign
Transcript: ENSMUST00000231904

Predicted Effect

probably benign
Transcript: ENSMUST00000232319

Predicted Effect

probably benign
Transcript: ENSMUST00000231471

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.2%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	A	G	7: 119,945,322 (GRCm39)	E466G	probably damaging	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Acta1	A	T	8: 124,619,900 (GRCm39)	S147T	probably benign	Het
Adh1	G	A	3: 137,994,558 (GRCm39)	V293I	probably benign	Het
Aldh3b3	T	C	19: 4,015,130 (GRCm39)	Y170H	probably damaging	Het
Ank3	A	T	10: 69,658,167 (GRCm39)	T198S	probably damaging	Het
Ankrd12	A	T	17: 66,293,698 (GRCm39)	N578K	possibly damaging	Het
Ano2	A	T	6: 125,849,647 (GRCm39)	E126D	probably damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arhgef7	C	A	8: 11,858,713 (GRCm39)		probably null	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Col19a1	A	T	1: 24,576,078 (GRCm39)	I88K	unknown	Het
Col1a1	G	A	11: 94,837,458 (GRCm39)		probably null	Het
Col5a1	A	G	2: 27,850,456 (GRCm39)	T518A	unknown	Het
Cul7	T	C	17: 46,966,666 (GRCm39)	L365P	probably damaging	Het
Dlec1	T	C	9: 118,931,712 (GRCm39)	S44P	probably damaging	Het
Dock9	T	C	14: 121,862,565 (GRCm39)		probably null	Het
Fbxl9	T	C	8: 106,039,707 (GRCm39)	N556S	probably damaging	Het
Flrt2	C	A	12: 95,745,904 (GRCm39)	P81T	probably damaging	Het
Flrt2	C	T	12: 95,745,905 (GRCm39)	P81L	probably damaging	Het
Ginm1	A	G	10: 7,650,980 (GRCm39)		probably null	Het
Glis3	T	C	19: 28,508,985 (GRCm39)	N333S	probably damaging	Het
Glo1	T	G	17: 30,815,382 (GRCm39)	E144D	probably benign	Het
Golga1	A	T	2: 38,937,792 (GRCm39)		probably null	Het
H2-Aa	A	G	17: 34,502,207 (GRCm39)	I155T	possibly damaging	Het
Haus5	A	G	7: 30,356,670 (GRCm39)	S479P	probably damaging	Het
Il10ra	A	T	9: 45,167,654 (GRCm39)	V299D	probably benign	Het
Il17re	T	C	6: 113,446,665 (GRCm39)	V472A	probably damaging	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Il23r	A	C	6: 67,400,718 (GRCm39)	D537E	probably benign	Het
Inppl1	T	C	7: 101,472,584 (GRCm39)	E1237G	possibly damaging	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Klhl35	T	C	7: 99,119,427 (GRCm39)	L304P	probably damaging	Het
Krt78	A	T	15: 101,855,398 (GRCm39)	C804*	probably null	Het
Med15	G	T	16: 17,491,018 (GRCm39)		probably benign	Het
Mettl25	A	G	10: 105,661,948 (GRCm39)	S341P	probably damaging	Het
Mroh1	A	G	15: 76,320,249 (GRCm39)	T1008A	probably benign	Het
Mug1	A	G	6: 121,858,780 (GRCm39)	D1166G	probably benign	Het
Mug2	C	A	6: 122,048,801 (GRCm39)	H856N	probably benign	Het
Naca	T	A	10: 127,879,590 (GRCm39)		probably benign	Het
Nagk	G	T	6: 83,776,336 (GRCm39)	V184F	probably damaging	Het
Nav1	T	G	1: 135,400,148 (GRCm39)	N474T	probably benign	Het
Ncor2	T	A	5: 125,102,489 (GRCm39)	H2089L	probably benign	Het
Nek6	A	G	2: 38,472,458 (GRCm39)	I261V	probably damaging	Het
Neurod2	G	A	11: 98,218,558 (GRCm39)	T202M	probably damaging	Het
Nlgn2	A	G	11: 69,716,726 (GRCm39)	V605A	probably damaging	Het
Nlrp5	A	C	7: 23,123,335 (GRCm39)	E732A	possibly damaging	Het
Nt5dc1	A	T	10: 34,189,667 (GRCm39)	V340D	probably damaging	Het
Ntn4	A	G	10: 93,543,234 (GRCm39)	D320G	possibly damaging	Het
Or10al3	T	A	17: 38,012,312 (GRCm39)	H250Q	probably damaging	Het
Or10x1	A	T	1: 174,196,734 (GRCm39)	I84L	probably benign	Het
Or52l1	A	G	7: 104,830,079 (GRCm39)	I162T	possibly damaging	Het
Or52z15	T	C	7: 103,332,750 (GRCm39)	I265T	probably damaging	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pcdhb12	T	A	18: 37,570,683 (GRCm39)	W610R	possibly damaging	Het
Pias2	T	A	18: 77,185,139 (GRCm39)	C66*	probably null	Het
Plec	T	A	15: 76,059,751 (GRCm39)	E3417D	probably damaging	Het
Plekhm3	CCTGCTGCTGCTGCTGCTGCTGCTGC	CCTGCTGCTGCTGCTGCTGCTGC	1: 64,976,940 (GRCm39)		probably benign	Het
Ppp1r12a	T	A	10: 108,034,752 (GRCm39)	I99N	probably damaging	Het
Prpf8	T	G	11: 75,395,570 (GRCm39)	V1899G	probably damaging	Het
Prr13	C	A	15: 102,369,133 (GRCm39)		probably benign	Het
Ptchd4	A	T	17: 42,814,507 (GRCm39)	I803L	probably benign	Het
R3hdm2	T	C	10: 127,334,337 (GRCm39)	I947T	possibly damaging	Het
Raet1d	A	G	10: 22,247,350 (GRCm39)	D142G	probably damaging	Het
Rbbp8nl	C	T	2: 179,925,106 (GRCm39)	R33Q	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Rptn	A	T	3: 93,304,017 (GRCm39)	H450L	possibly damaging	Het
Scn11a	T	A	9: 119,608,102 (GRCm39)	K1010*	probably null	Het
Slc16a10	G	A	10: 39,932,602 (GRCm39)	Q33*	probably null	Het
Slc31a1	C	T	4: 62,303,842 (GRCm39)		probably benign	Het
Slc34a1	A	T	13: 55,548,963 (GRCm39)	K138*	probably null	Het
Slc6a18	T	A	13: 73,818,162 (GRCm39)	E285V	probably benign	Het
Slco6c1	T	A	1: 97,000,707 (GRCm39)	T515S	probably damaging	Het
Snrnp40	T	A	4: 130,279,768 (GRCm39)	S295T	probably damaging	Het
Snx4	A	T	16: 33,104,808 (GRCm39)	Y252F	possibly damaging	Het
Spata18	T	A	5: 73,828,482 (GRCm39)	F348I	probably damaging	Het
Spef2	G	T	15: 9,607,463 (GRCm39)	R1319S	probably damaging	Het
Tas2r125	T	C	6: 132,887,139 (GRCm39)	F176L	probably benign	Het
Tcp10b	A	G	17: 13,300,513 (GRCm39)	K399E	possibly damaging	Het
Tcstv3	A	G	13: 120,779,260 (GRCm39)	H53R	probably damaging	Het
Tnrc6c	A	G	11: 117,613,831 (GRCm39)	K823R	probably damaging	Het
Trim31	A	G	17: 37,212,692 (GRCm39)	E221G	probably benign	Het
Trim47	T	A	11: 115,998,605 (GRCm39)	Q338L	probably damaging	Het
Tubgcp6	C	A	15: 89,000,444 (GRCm39)	R307L	possibly damaging	Het
Usp9y	A	G	Y: 1,303,371 (GRCm39)		probably null	Het
Utp20	G	T	10: 88,588,888 (GRCm39)	T2427K	probably benign	Het
Vldlr	T	C	19: 27,218,709 (GRCm39)	V147A	probably damaging	Het
Vmn1r115	C	T	7: 20,578,198 (GRCm39)	R238H	probably benign	Het
Vmn1r175	C	A	7: 23,508,218 (GRCm39)	R136S	probably benign	Het
Vmn1r53	A	G	6: 90,201,268 (GRCm39)	S19P	possibly damaging	Het
Zfp362	G	T	4: 128,684,069 (GRCm39)	P13T	probably damaging	Het
Zfp825	A	G	13: 74,629,064 (GRCm39)	C151R	probably damaging	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
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
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'- CTCAGCATCATCTCCTTGGG -3'
(R):5'- CCTTACACATTCGAAGGGCTG -3'

Sequencing Primer
(F):5'- GGCATTTCTGAGCCCTGG -3'
(R):5'- CAGCAAGTGTAGCTGCAGATTCTG -3'

Posted On

2014-06-30