Mutagenetix > Incidental Mutation

Incidental Mutation 'R0140:Vav2'

22233

Institutional Source

Beutler Lab

Gene Symbol

Vav2

Ensembl Gene

ENSMUSG00000009621

Gene Name

vav 2 oncogene

Synonyms

2810040F13Rik

MMRRC Submission

038425-MU

Accession Numbers

Essential gene?

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

Stock #

R0140 (G1)

Quality Score

223

Status

Validated

Chromosome

Chromosomal Location

27152116-27317045 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 27163688 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000138964 (fasta)

Gene Model

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

AlphaFold

Q60992

Predicted Effect

probably benign
Transcript: ENSMUST00000056176

SMART Domains

Protein: ENSMUSP00000062782
Gene: ENSMUSG00000009621

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: ENSMUST00000135584

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146843

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149758

Predicted Effect

probably benign
Transcript: ENSMUST00000185188

SMART Domains

Protein: ENSMUSP00000138964
Gene: ENSMUSG00000009621

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

98% (79/81)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	T	C	9: 124,057,789 (GRCm39)		probably benign	Het
9330161L09Rik	T	C	12: 103,373,587 (GRCm39)		probably benign	Het
Abca2	T	G	2: 25,328,097 (GRCm39)		probably null	Het
Adgrf3	T	C	5: 30,401,379 (GRCm39)	K13R	probably benign	Het
Arhgap15	C	A	2: 44,212,779 (GRCm39)	F416L	probably damaging	Het
Arhgef26	C	G	3: 62,355,666 (GRCm39)	T746R	probably benign	Het
Aspm	C	T	1: 139,408,379 (GRCm39)	T2422I	probably benign	Het
Atp4a	C	G	7: 30,419,526 (GRCm39)	R659G	probably benign	Het
AY358078	T	A	14: 52,063,399 (GRCm39)	D348E	probably benign	Het
Blnk	A	T	19: 40,928,668 (GRCm39)	S285T	probably damaging	Het
Calr3	C	T	8: 73,188,732 (GRCm39)		probably benign	Het
Camsap2	A	T	1: 136,208,120 (GRCm39)	V1124D	probably benign	Het
Ccdc40	G	A	11: 119,155,125 (GRCm39)	G1122S	probably benign	Het
Ccdc69	C	A	11: 54,941,325 (GRCm39)	C196F	possibly damaging	Het
Cdhr3	T	G	12: 33,130,412 (GRCm39)	N141T	probably benign	Het
Cdk4	T	C	10: 126,900,214 (GRCm39)	V37A	probably damaging	Het
Celsr2	C	T	3: 108,305,249 (GRCm39)	R2110K	probably benign	Het
Clcn7	A	G	17: 25,372,728 (GRCm39)	Y437C	probably damaging	Het
Col6a6	A	G	9: 105,579,474 (GRCm39)	F1917S	probably damaging	Het
Cps1	T	G	1: 67,219,275 (GRCm39)	S872A	probably benign	Het
Crebbp	G	T	16: 3,935,363 (GRCm39)	T842N	probably damaging	Het
Dennd2d	G	A	3: 106,399,799 (GRCm39)	V234I	probably benign	Het
Fam227b	T	C	2: 125,966,523 (GRCm39)	M130V	possibly damaging	Het
Fbxw24	G	T	9: 109,434,482 (GRCm39)	L373I	possibly damaging	Het
Fubp3	T	C	2: 31,498,196 (GRCm39)	Y359H	probably damaging	Het
Gm19684	T	C	17: 36,438,319 (GRCm39)		probably benign	Het
Hrnr	C	T	3: 93,238,800 (GRCm39)	Q3013*	probably null	Het
Il12rb1	T	C	8: 71,272,415 (GRCm39)		probably benign	Het
Lepr	A	T	4: 101,625,264 (GRCm39)	D473V	probably damaging	Het
Myof	A	T	19: 37,940,004 (GRCm39)	Y820*	probably null	Het
Nfil3	G	A	13: 53,121,681 (GRCm39)	Q408*	probably null	Het
Nolc1	G	A	19: 46,069,817 (GRCm39)		probably benign	Het
Npbwr1	A	C	1: 5,986,840 (GRCm39)	Y225D	probably damaging	Het
Nrip3	T	C	7: 109,361,022 (GRCm39)		probably benign	Het
Ntrk1	A	C	3: 87,685,875 (GRCm39)	L749R	probably damaging	Het
Or10ag53	A	G	2: 87,082,969 (GRCm39)	I229M	probably damaging	Het
Or2b11	A	G	11: 59,461,804 (GRCm39)	L254P	probably damaging	Het
Or4c126	T	A	2: 89,824,463 (GRCm39)	V242D	probably damaging	Het
Or52a24	A	G	7: 103,381,349 (GRCm39)	D72G	probably damaging	Het
Or6c211	G	T	10: 129,505,557 (GRCm39)	T277N	probably damaging	Het
Paox	A	T	7: 139,713,971 (GRCm39)	T244S	probably damaging	Het
Pcdhb9	T	A	18: 37,536,014 (GRCm39)	D669E	possibly damaging	Het
Pggt1b	A	G	18: 46,391,150 (GRCm39)		probably null	Het
Phkg1	T	A	5: 129,893,449 (GRCm39)	I334F	probably benign	Het
Phtf1	A	T	3: 103,894,876 (GRCm39)	R208W	probably null	Het
Pnliprp2	A	T	19: 58,754,795 (GRCm39)	I280F	probably benign	Het
Pnma8a	A	G	7: 16,694,147 (GRCm39)	M1V	probably null	Het
Prcp	A	G	7: 92,577,819 (GRCm39)	T328A	probably damaging	Het
Pxdn	A	G	12: 30,032,753 (GRCm39)	E179G	probably benign	Het
Racgap1	A	T	15: 99,521,532 (GRCm39)	N541K	probably benign	Het
Rnf103	T	A	6: 71,486,315 (GRCm39)	F315L	possibly damaging	Het
Septin2	A	G	1: 93,429,361 (GRCm39)	R237G	probably damaging	Het
Setd6	T	A	8: 96,442,737 (GRCm39)	L58Q	probably damaging	Het
Sipa1l1	G	A	12: 82,442,974 (GRCm39)	V755I	probably damaging	Het
Slc16a12	G	T	19: 34,650,104 (GRCm39)		probably benign	Het
Slk	G	A	19: 47,610,774 (GRCm39)	D815N	probably damaging	Het
Stx1a	T	C	5: 135,074,439 (GRCm39)		probably benign	Het
Tbc1d15	T	A	10: 115,056,124 (GRCm39)	I283F	probably damaging	Het
Tenm4	T	C	7: 96,545,259 (GRCm39)	I2425T	possibly damaging	Het
Tle1	G	A	4: 72,038,422 (GRCm39)	H702Y	probably damaging	Het
Tmc6	A	G	11: 117,657,077 (GRCm39)		probably benign	Het
Tmem268	G	A	4: 63,496,096 (GRCm39)	R179H	possibly damaging	Het
Tmem9	A	G	1: 135,961,900 (GRCm39)	K165R	probably damaging	Het
Trpm6	A	G	19: 18,796,558 (GRCm39)		probably null	Het
Tufm	C	T	7: 126,089,003 (GRCm39)	P88S	probably damaging	Het
Ubqln1	A	G	13: 58,341,103 (GRCm39)	I216T	probably damaging	Het
Urad	T	G	5: 147,259,141 (GRCm39)	M1L	probably benign	Het
Utp6	A	G	11: 79,847,551 (GRCm39)		probably benign	Het
Vmn2r55	G	T	7: 12,402,104 (GRCm39)	Q395K	possibly damaging	Het
Wwox	T	G	8: 115,433,027 (GRCm39)	V231G	probably damaging	Het
Zfp646	T	A	7: 127,482,678 (GRCm39)	N1618K	probably benign	Het
Zzef1	G	A	11: 72,790,377 (GRCm39)	M2110I	possibly 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
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
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'- GCCTCTTCTCACCAAAGGCATGAC -3'
(R):5'- CCACATGACGTTCTGGCCCATATAG -3'

Sequencing Primer
(F):5'- GCTTCCATGAAGCTCAATGAAGTC -3'
(R):5'- GGCCCATATAGATGGCTGG -3'

Posted On

2013-04-16