Mutagenetix > Incidental Mutation

Incidental Mutation 'R4895:Vav2'

377538

Institutional Source

Beutler Lab

Gene Symbol

Vav2

Ensembl Gene

ENSMUSG00000009621

Gene Name

vav 2 oncogene

Synonyms

2810040F13Rik

MMRRC Submission

042499-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.338) question?

Stock #

R4895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27152116-27317045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 27208973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 100 (D100G)

Ref Sequence

ENSEMBL: ENSMUSP00000138964 (fasta)

Gene Model

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

AlphaFold

Q60992

Predicted Effect

possibly damaging
Transcript: ENSMUST00000056176
AA Change: D139G

PolyPhen 2 Score 0.956 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000062782
Gene: ENSMUSG00000009621
AA Change: D139G

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

noncoding transcript
Transcript: ENSMUST00000132642

Predicted Effect

probably damaging
Transcript: ENSMUST00000185188
AA Change: D100G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000138964
Gene: ENSMUSG00000009621
AA Change: D100G

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

Meta Mutation Damage Score

0.3905

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,454,990 (GRCm39)		probably benign	Het
Abat	G	A	16: 8,433,826 (GRCm39)	A392T	probably benign	Het
Abca14	G	A	7: 119,846,572 (GRCm39)		probably null	Het
Abcc6	A	T	7: 45,630,414 (GRCm39)	L1282Q	possibly damaging	Het
Acss2	A	G	2: 155,392,401 (GRCm39)		probably benign	Het
Adgrf1	G	T	17: 43,621,511 (GRCm39)	V583L	probably benign	Het
Aftph	T	C	11: 20,646,801 (GRCm39)	D825G	probably damaging	Het
Ahnak	T	C	19: 8,994,805 (GRCm39)	V5363A	probably benign	Het
Apba3	G	A	10: 81,107,117 (GRCm39)		probably null	Het
Asb13	T	C	13: 3,693,589 (GRCm39)	Y116H	probably damaging	Het
Asb4	C	A	6: 5,398,266 (GRCm39)	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,256,289 (GRCm39)	H223Q	probably benign	Het
Best1	A	G	19: 9,970,135 (GRCm39)	L159P	probably benign	Het
Cacna1h	A	T	17: 25,608,396 (GRCm39)	M731K	probably damaging	Het
Catspere1	T	A	1: 177,687,427 (GRCm39)		noncoding transcript	Het
Cenpv	A	T	11: 62,418,346 (GRCm39)	Y202*	probably null	Het
Cep57	A	T	9: 13,727,449 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,084 (GRCm39)	D363V	possibly damaging	Het
Cluh	A	G	11: 74,558,231 (GRCm39)	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,551,347 (GRCm39)		probably null	Het
Dnajc11	T	C	4: 152,064,390 (GRCm39)	F514L	probably damaging	Het
Efcab3	C	T	11: 104,611,112 (GRCm39)	T318I	probably benign	Het
Efcab3	T	A	11: 105,008,227 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,640,496 (GRCm39)	D1026G	probably damaging	Het
Eif2b4	T	G	5: 31,350,298 (GRCm39)	Q8P	probably benign	Het
Epha6	A	T	16: 59,486,918 (GRCm39)	V1043E	probably benign	Het
Gm11562	G	T	11: 99,511,141 (GRCm39)	Q20K	unknown	Het
Gm14415	A	T	2: 176,796,114 (GRCm39)		noncoding transcript	Het
Gm5431	A	G	11: 48,779,855 (GRCm39)	S634P	probably damaging	Het
Gpld1	C	A	13: 25,163,711 (GRCm39)	N501K	probably damaging	Het
Gsn	C	T	2: 35,192,590 (GRCm39)	R513C	probably damaging	Het
Gulp1	T	C	1: 44,827,757 (GRCm39)	F300L	probably benign	Het
H2aj	T	C	6: 136,785,660 (GRCm39)	V108A	possibly damaging	Het
Haus3	T	C	5: 34,325,414 (GRCm39)	R82G	probably benign	Het
Herc2	G	A	7: 55,872,734 (GRCm39)	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,553,130 (GRCm39)	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,171,014 (GRCm39)	I53V	probably benign	Het
Inpp5e	C	T	2: 26,287,924 (GRCm39)	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367 (GRCm39)	C491*	probably null	Het
Itpkb	C	A	1: 180,241,460 (GRCm39)	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,905,784 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,742,368 (GRCm39)		probably benign	Het
Lamb3	C	T	1: 193,014,622 (GRCm39)	R594*	probably null	Het
Map3k20	A	G	2: 72,232,700 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,624,472 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,231,752 (GRCm39)	T651A	probably benign	Het
Nbeal1	A	G	1: 60,332,062 (GRCm39)	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,397,618 (GRCm39)	Y61H	probably damaging	Het
Npat	T	A	9: 53,481,789 (GRCm39)	L1166M	probably damaging	Het
Or12e1	A	C	2: 87,022,192 (GRCm39)	I54L	probably benign	Het
Or4c108	A	T	2: 88,804,055 (GRCm39)	F60Y	probably benign	Het
Or5ak20	A	T	2: 85,183,341 (GRCm39)	*310K	probably null	Het
Or5b97	C	T	19: 12,878,251 (GRCm39)	V298M	probably damaging	Het
Or5h22	C	T	16: 58,895,020 (GRCm39)	C141Y	probably benign	Het
Or5p66	A	C	7: 107,885,802 (GRCm39)	I177S	probably damaging	Het
Pcdhb3	T	C	18: 37,434,759 (GRCm39)	F242L	probably damaging	Het
Phip	A	G	9: 82,841,648 (GRCm39)	V57A	probably benign	Het
Plekha7	A	T	7: 115,788,626 (GRCm39)		probably null	Het
Pot1a	A	C	6: 25,753,205 (GRCm39)	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,831,126 (GRCm39)	P217L	probably damaging	Het
Prepl	A	G	17: 85,388,494 (GRCm39)	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,759,513 (GRCm39)	I175V	probably benign	Het
Ranbp6	A	T	19: 29,787,175 (GRCm39)	I1059N	possibly damaging	Het
Rhag	A	G	17: 41,122,242 (GRCm39)	Q59R	probably benign	Het
Sema4c	A	C	1: 36,592,651 (GRCm39)		probably null	Het
Sf3b3	T	C	8: 111,542,656 (GRCm39)	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,019,220 (GRCm39)		probably null	Het
Tbrg1	A	T	9: 37,566,375 (GRCm39)	I54N	probably damaging	Het
Tchh	A	T	3: 93,352,993 (GRCm39)	E811V	unknown	Het
Tenm3	T	A	8: 48,754,006 (GRCm39)	D799V	probably damaging	Het
Tlr5	T	C	1: 182,801,764 (GRCm39)	L342P	probably damaging	Het
Tppp	C	T	13: 74,178,996 (GRCm39)	R146*	probably null	Het
Trpm4	A	T	7: 44,967,482 (GRCm39)	M574K	probably damaging	Het
Uggt1	A	T	1: 36,195,345 (GRCm39)	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,256,298 (GRCm39)	K1124N	probably damaging	Het
Usf3	A	C	16: 44,041,459 (GRCm39)	S1980R	possibly damaging	Het
Vmn2r3	G	T	3: 64,167,182 (GRCm39)	H650N	probably benign	Het
Vmn2r59	T	A	7: 41,695,218 (GRCm39)	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,187,396 (GRCm39)	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,910,892 (GRCm39)	R235*	probably null	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
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
R7267:Vav2	UTSW	2	27,173,334 (GRCm39)	missense	probably damaging	0.99
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'- CCTGTAACTCAGCCATGCAG -3'
(R):5'- TTGAGGCTTGGAGACCTAGG -3'

Sequencing Primer
(F):5'- TGCAGAAATCCCAGCTTCTG -3'
(R):5'- TAAGGGCTGACTTACCCATGG -3'

Posted On

2016-03-17