Mutagenetix > Incidental Mutation

Incidental Mutation 'R7267:Vav2'

564970

Institutional Source

Beutler Lab

Gene Symbol

Vav2

Ensembl Gene

ENSMUSG00000009621

Gene Name

vav 2 oncogene

Synonyms

2810040F13Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.346) question?

Stock #

R7267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27152116-27317045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27173334 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 497 (F497L)

Ref Sequence

ENSEMBL: ENSMUSP00000062782 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056176] [ENSMUST00000185188]

AlphaFold

Q60992

Predicted Effect

probably damaging
Transcript: ENSMUST00000056176
AA Change: F497L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062782
Gene: ENSMUSG00000009621
AA Change: F497L

Domain	Start	End	E-Value	Type
CH	3	115	1.87e-24	SMART
low complexity region	165	176	N/A	INTRINSIC
RhoGEF	197	370	2.41e-57	SMART
PH	401	504	2.05e-10	SMART
C1	514	562	1.43e-11	SMART
SH3	579	641	1.26e-13	SMART
SH2	661	743	3.37e-25	SMART
low complexity region	759	777	N/A	INTRINSIC
SH3	809	866	3.27e-21	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000185188
AA Change: F468L

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

SMART Domains

Protein: ENSMUSP00000138964
Gene: ENSMUSG00000009621
AA Change: F468L

Domain	Start	End	E-Value	Type
CH	3	129	3.71e-2	SMART
RhoGEF	163	336	2.41e-57	SMART
PH	367	475	1.78e-10	SMART
C1	485	533	1.43e-11	SMART
SH3	550	612	1.26e-13	SMART
SH2	632	714	1.26e-15	SMART
low complexity region	771	789	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a member of the Vav family of Rho guanine nucleotide exchange factors. Vav family proteins are involved in the development and activation of lymphocytes, and the encoded protein may also be involved in angiogenesis. Disruption of this gene in mice is associated with heart, artery, and kidney defects, as well as tachycardia and hypertension. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Homozygous null mutants have defects in humoral immune response to type II thymus-independent antigens, in primary response to thymus-dependent antigens and inability to switch immunoglobulin class, form germinal centers and generate secondary responses. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	G	12: 118,916,205 (GRCm39)	I37T	probably damaging	Het
Ackr2	A	G	9: 121,737,874 (GRCm39)	Y83C	probably damaging	Het
Adam19	C	T	11: 46,012,403 (GRCm39)	Q300*	probably null	Het
Anxa7	C	T	14: 20,519,474 (GRCm39)	A115T	probably benign	Het
Aoc1l3	AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC	AGGCCCAGCC	6: 48,964,952 (GRCm39)		probably benign	Het
Atad2b	A	T	12: 5,077,105 (GRCm39)	R1109*	probably null	Het
Batf2	A	G	19: 6,221,396 (GRCm39)	T69A	probably benign	Het
Best1	A	G	19: 9,964,177 (GRCm39)	C428R	probably benign	Het
Birc6	A	G	17: 74,892,980 (GRCm39)	T973A	probably benign	Het
Bmp2k	C	T	5: 97,216,293 (GRCm39)	T597I	unknown	Het
Bmpr1a	G	A	14: 34,165,836 (GRCm39)	P57L	possibly damaging	Het
Camk2d	A	T	3: 126,591,379 (GRCm39)	H283L	possibly damaging	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Ces1b	C	A	8: 93,806,132 (GRCm39)	K36N	possibly damaging	Het
Ces2a	T	A	8: 105,465,672 (GRCm39)	M308K	probably benign	Het
Ctnnd2	C	A	15: 30,683,501 (GRCm39)	Q501K	probably benign	Het
Cyb561d1	T	C	3: 108,106,629 (GRCm39)	T197A	probably benign	Het
Dedd2	C	A	7: 24,918,391 (GRCm39)	A55S	probably damaging	Het
Dnah2	C	T	11: 69,391,643 (GRCm39)	R684Q	probably damaging	Het
Elovl3	A	G	19: 46,122,979 (GRCm39)	Y185C	probably damaging	Het
Fgf3	C	T	7: 144,392,569 (GRCm39)	A42V	probably damaging	Het
Gabra5	A	G	7: 57,140,529 (GRCm39)	L56P	probably damaging	Het
Gm19410	T	G	8: 36,281,997 (GRCm39)	V1860G	possibly damaging	Het
Gm21663	G	T	5: 26,143,751 (GRCm39)	N190K	probably damaging	Het
Grm3	T	A	5: 9,639,581 (GRCm39)	I155L	probably benign	Het
Hadha	A	G	5: 30,327,755 (GRCm39)	I495T	probably damaging	Het
Herc4	C	T	10: 63,109,365 (GRCm39)	A200V	possibly damaging	Het
Itga3	C	A	11: 94,967,188 (GRCm39)		probably benign	Het
Krt6a	C	T	15: 101,602,289 (GRCm39)	S132N	probably benign	Het
Lpar1	T	C	4: 58,486,857 (GRCm39)	N138S	possibly damaging	Het
Lrrc42	T	A	4: 107,096,983 (GRCm39)	T247S	probably damaging	Het
Man2b1	T	A	8: 85,813,804 (GRCm39)	V256E	probably damaging	Het
Map3k4	G	T	17: 12,490,536 (GRCm39)	Y298*	probably null	Het
Mars1	A	G	10: 127,144,455 (GRCm39)	V195A	probably benign	Het
Mdm4	A	T	1: 132,922,311 (GRCm39)	V278E	probably benign	Het
Mdp1	A	G	14: 55,897,544 (GRCm39)	V37A	probably damaging	Het
Med13	A	G	11: 86,199,652 (GRCm39)	I685T	probably benign	Het
Mobp	A	G	9: 119,996,914 (GRCm39)	N15S	probably damaging	Het
Nbn	T	A	4: 15,979,320 (GRCm39)	M435K	probably benign	Het
Nfs1	A	G	2: 155,965,703 (GRCm39)	V126A	probably benign	Het
Npepl1	T	A	2: 173,963,909 (GRCm39)	V480E	probably damaging	Het
Nr2e3	G	A	9: 59,855,972 (GRCm39)	S155F	possibly damaging	Het
Oplah	T	C	15: 76,189,209 (GRCm39)	D278G	probably benign	Het
Or4c124	A	T	2: 89,156,157 (GRCm39)	Y122*	probably null	Het
Or51q1c	A	G	7: 103,653,046 (GRCm39)	H188R	probably benign	Het
Pard3	T	C	8: 128,098,056 (GRCm39)	Y366H	probably damaging	Het
Pcdhb11	A	G	18: 37,555,006 (GRCm39)	N112S	possibly damaging	Het
Pde11a	A	G	2: 76,168,189 (GRCm39)	S255P	probably damaging	Het
Piezo1	T	C	8: 123,224,268 (GRCm39)	H745R		Het
Pkn2	A	T	3: 142,517,776 (GRCm39)	S441T	possibly damaging	Het
Pld1	A	C	3: 28,130,550 (GRCm39)	H450P	probably damaging	Het
Plekhs1	T	A	19: 56,459,209 (GRCm39)	H22Q	probably damaging	Het
Prss44	A	C	9: 110,645,611 (GRCm39)	Y285S	probably damaging	Het
Qpctl	T	C	7: 18,878,852 (GRCm39)	E249G	probably benign	Het
Rcsd1	A	T	1: 165,491,185 (GRCm39)	S50T	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Scube1	T	A	15: 83,505,266 (GRCm39)	N496Y	probably damaging	Het
Skic3	A	G	13: 76,328,196 (GRCm39)	M1415V	probably benign	Het
Slc16a8	AGGCC	A	15: 79,136,125 (GRCm39)		probably null	Het
Slc38a4	T	A	15: 96,903,781 (GRCm39)	T407S	probably benign	Het
Slc51a	T	G	16: 32,298,590 (GRCm39)	I56L	probably benign	Het
Slc6a18	T	G	13: 73,819,755 (GRCm39)	I272L	probably damaging	Het
Sorl1	A	G	9: 42,035,375 (GRCm39)	L12P	possibly damaging	Het
Sycp2l	A	T	13: 41,300,070 (GRCm39)	D428V	possibly damaging	Het
Syne1	C	T	10: 5,178,218 (GRCm39)	R4752Q	probably damaging	Het
Tbc1d9	C	A	8: 83,997,957 (GRCm39)	H1171Q	probably damaging	Het
Thsd1	G	A	8: 22,733,597 (GRCm39)	V215I	probably benign	Het
Tmem143	T	A	7: 45,557,598 (GRCm39)	M208K	probably benign	Het
Tmem63b	C	T	17: 45,977,048 (GRCm39)	V440I	probably benign	Het
Tnik	A	T	3: 28,700,776 (GRCm39)	S918C	probably damaging	Het
Ttn	A	G	2: 76,733,751 (GRCm39)	I4508T	unknown	Het
Zc3h14	G	A	12: 98,751,988 (GRCm39)	R730Q	probably damaging	Het
Zfp560	G	A	9: 20,259,384 (GRCm39)	H493Y	probably damaging	Het

Other mutations in Vav2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00565:Vav2	APN	2	27,167,250 (GRCm39)	missense	probably benign	0.35
IGL02394:Vav2	APN	2	27,187,671 (GRCm39)	splice site	probably benign
IGL03088:Vav2	APN	2	27,157,262 (GRCm39)	missense	possibly damaging	0.74
IGL03256:Vav2	APN	2	27,161,912 (GRCm39)	splice site	probably null
IGL03295:Vav2	APN	2	27,165,041 (GRCm39)	missense	possibly damaging	0.90
Assent	UTSW	2	27,186,231 (GRCm39)	missense	probably damaging	1.00
R0097:Vav2	UTSW	2	27,189,374 (GRCm39)	splice site	probably benign
R0097:Vav2	UTSW	2	27,189,374 (GRCm39)	splice site	probably benign
R0140:Vav2	UTSW	2	27,163,688 (GRCm39)	splice site	probably benign
R0331:Vav2	UTSW	2	27,186,187 (GRCm39)	missense	probably benign	0.09
R0619:Vav2	UTSW	2	27,186,133 (GRCm39)	critical splice donor site	probably null
R1191:Vav2	UTSW	2	27,182,792 (GRCm39)	splice site	probably null
R1723:Vav2	UTSW	2	27,208,976 (GRCm39)	missense	possibly damaging	0.94
R2107:Vav2	UTSW	2	27,157,315 (GRCm39)	missense	probably damaging	1.00
R2131:Vav2	UTSW	2	27,189,408 (GRCm39)	missense	possibly damaging	0.71
R2164:Vav2	UTSW	2	27,163,718 (GRCm39)	missense	probably damaging	0.96
R2268:Vav2	UTSW	2	27,182,667 (GRCm39)	splice site	probably null
R2927:Vav2	UTSW	2	27,316,403 (GRCm39)	missense	probably damaging	1.00
R3802:Vav2	UTSW	2	27,157,235 (GRCm39)	splice site	probably benign
R4050:Vav2	UTSW	2	27,181,415 (GRCm39)	missense	probably damaging	1.00
R4050:Vav2	UTSW	2	27,178,691 (GRCm39)	missense	probably benign	0.01
R4626:Vav2	UTSW	2	27,160,172 (GRCm39)	missense	possibly damaging	0.62
R4895:Vav2	UTSW	2	27,208,973 (GRCm39)	missense	probably damaging	0.99
R5441:Vav2	UTSW	2	27,160,122 (GRCm39)	intron	probably benign
R6009:Vav2	UTSW	2	27,161,912 (GRCm39)	splice site	probably null
R6501:Vav2	UTSW	2	27,186,231 (GRCm39)	missense	probably damaging	1.00
R6564:Vav2	UTSW	2	27,169,197 (GRCm39)	splice site	probably null
R7206:Vav2	UTSW	2	27,226,731 (GRCm39)	missense	probably benign	0.17
R7541:Vav2	UTSW	2	27,165,014 (GRCm39)	missense	probably damaging	0.99
R7691:Vav2	UTSW	2	27,187,750 (GRCm39)	critical splice acceptor site	probably null
R7786:Vav2	UTSW	2	27,276,613 (GRCm39)	missense	probably damaging	1.00
R7822:Vav2	UTSW	2	27,172,299 (GRCm39)	critical splice donor site	probably null
R8434:Vav2	UTSW	2	27,159,050 (GRCm39)	intron	probably benign
R8535:Vav2	UTSW	2	27,161,841 (GRCm39)	missense	probably damaging	1.00
R9015:Vav2	UTSW	2	27,160,151 (GRCm39)	nonsense	probably null
R9088:Vav2	UTSW	2	27,187,708 (GRCm39)	missense	possibly damaging	0.84
R9097:Vav2	UTSW	2	27,181,850 (GRCm39)	missense	probably damaging	1.00
R9180:Vav2	UTSW	2	27,182,701 (GRCm39)	missense	probably damaging	1.00
R9192:Vav2	UTSW	2	27,172,394 (GRCm39)	missense	probably damaging	1.00
R9493:Vav2	UTSW	2	27,157,276 (GRCm39)	missense	probably damaging	1.00
R9545:Vav2	UTSW	2	27,173,351 (GRCm39)	missense	probably damaging	1.00
R9711:Vav2	UTSW	2	27,159,027 (GRCm39)	missense	probably damaging	1.00
R9790:Vav2	UTSW	2	27,181,825 (GRCm39)	missense	probably damaging	1.00
R9791:Vav2	UTSW	2	27,181,825 (GRCm39)	missense	probably damaging	1.00
X0064:Vav2	UTSW	2	27,172,363 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGGCACTTCCTAGACTTC -3'
(R):5'- GTCACACAAGACGTAGGCAC -3'

Sequencing Primer
(F):5'- GGCACTTCCTAGACTTCCAAGC -3'
(R):5'- GAACTTGTGTGCACCTGATAGCATC -3'

Posted On

2019-06-26