Mutagenetix > Incidental Mutation

Incidental Mutation 'R0331:Vav2'

26029

Institutional Source

Beutler Lab

Gene Symbol

Vav2

Ensembl Gene

ENSMUSG00000009621

Gene Name

vav 2 oncogene

Synonyms

2810040F13Rik

MMRRC Submission

038540-MU

Accession Numbers

Essential gene?

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

Stock #

R0331 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27152116-27317045 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 27186187 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 223 (M223L)

Ref Sequence

ENSEMBL: ENSMUSP00000138964 (fasta)

Gene Model

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

AlphaFold

Q60992

Predicted Effect

probably benign
Transcript: ENSMUST00000056176
AA Change: M257L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000062782
Gene: ENSMUSG00000009621
AA Change: M257L

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 benign
Transcript: ENSMUST00000185188
AA Change: M223L

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000138964
Gene: ENSMUSG00000009621
AA Change: M223L

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: 99.0%
3x: 98.0%
10x: 95.8%
20x: 91.7%

Validation Efficiency

100% (81/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700011L22Rik	T	A	8: 79,956,021 (GRCm39)	T79S	probably benign	Het
Abtb1	T	C	6: 88,817,684 (GRCm39)		probably benign	Het
Acot12	G	A	13: 91,908,183 (GRCm39)		probably null	Het
Adamts4	T	A	1: 171,078,541 (GRCm39)	S54T	probably benign	Het
Adgrl4	T	C	3: 151,203,577 (GRCm39)	S96P	probably benign	Het
Aip	G	T	19: 4,168,247 (GRCm39)	T40K	probably damaging	Het
Anapc4	A	G	5: 53,012,984 (GRCm39)		probably benign	Het
Asz1	A	G	6: 18,103,618 (GRCm39)		probably benign	Het
Atf7ip	A	G	6: 136,538,161 (GRCm39)	T465A	possibly damaging	Het
Atp11a	C	T	8: 12,866,953 (GRCm39)	Q127*	probably null	Het
Axin1	A	G	17: 26,362,081 (GRCm39)	R142G	probably damaging	Het
Bcat1	T	A	6: 144,993,040 (GRCm39)	E86V	probably benign	Het
Brd4	G	A	17: 32,421,489 (GRCm39)	P749L	probably benign	Het
C1ra	G	A	6: 124,496,394 (GRCm39)		probably null	Het
Capza2	A	T	6: 17,665,102 (GRCm39)	N237I	probably benign	Het
Cd2ap	A	T	17: 43,116,192 (GRCm39)	V556E	probably benign	Het
Cfap65	G	A	1: 74,968,460 (GRCm39)	P124L	probably damaging	Het
Cfap65	G	T	1: 74,968,461 (GRCm39)	P124T	probably damaging	Het
Cftr	T	C	6: 18,235,225 (GRCm39)	V488A	possibly damaging	Het
Ckmt1	A	T	2: 121,193,337 (GRCm39)		probably null	Het
Cmya5	T	G	13: 93,280,911 (GRCm39)	E35A	possibly damaging	Het
Col7a1	A	G	9: 108,796,570 (GRCm39)		probably benign	Het
Crmp1	C	T	5: 37,422,657 (GRCm39)	L155F	possibly damaging	Het
Cyp2d10	T	A	15: 82,291,227 (GRCm39)	T33S	probably benign	Het
Dhdh	T	C	7: 45,137,544 (GRCm39)	K48E	probably benign	Het
Dlst	T	C	12: 85,165,586 (GRCm39)	V103A	probably damaging	Het
Dohh	C	T	10: 81,223,646 (GRCm39)	T233I	probably benign	Het
Dvl2	C	A	11: 69,897,043 (GRCm39)		probably benign	Het
Eipr1	C	T	12: 28,914,703 (GRCm39)	Q286*	probably null	Het
Enpp6	C	A	8: 47,535,484 (GRCm39)	T343K	probably damaging	Het
Fbxw11	T	A	11: 32,661,895 (GRCm39)	F112I	probably damaging	Het
Gdpd4	T	A	7: 97,622,215 (GRCm39)	N231K	probably benign	Het
Gm6370	A	T	5: 146,430,576 (GRCm39)	T254S	probably benign	Het
Hapln4	G	T	8: 70,537,159 (GRCm39)	Q31H	probably damaging	Het
Hic1	T	A	11: 75,056,316 (GRCm39)	T858S	possibly damaging	Het
Isg20l2	T	C	3: 87,839,092 (GRCm39)	L101P	probably damaging	Het
Itga10	T	C	3: 96,559,799 (GRCm39)	Y485H	probably damaging	Het
Itgal	T	A	7: 126,905,853 (GRCm39)		probably null	Het
Itln1	T	C	1: 171,359,117 (GRCm39)	N62S	probably damaging	Het
Kdm4b	T	C	17: 56,693,289 (GRCm39)		probably benign	Het
Lct	T	C	1: 128,226,479 (GRCm39)		probably benign	Het
Lman2	A	T	13: 55,500,829 (GRCm39)	H123Q	probably damaging	Het
Lztr1	T	A	16: 17,342,101 (GRCm39)		probably benign	Het
Myo3b	G	T	2: 69,925,605 (GRCm39)	G24V	probably damaging	Het
Nacad	T	A	11: 6,549,441 (GRCm39)	Q1250L	possibly damaging	Het
Ncor2	A	T	5: 125,161,981 (GRCm39)	M431K	unknown	Het
Nek9	T	A	12: 85,374,149 (GRCm39)		probably benign	Het
Neu1	C	A	17: 35,153,146 (GRCm39)	N255K	possibly damaging	Het
Nf2	T	A	11: 4,744,914 (GRCm39)	T75S	probably benign	Het
Nipal4	T	A	11: 46,041,040 (GRCm39)	D385V	probably damaging	Het
Olah	T	A	2: 3,343,511 (GRCm39)	N245I	probably damaging	Het
Or5p54	G	T	7: 107,554,077 (GRCm39)	L76F	probably benign	Het
Pag1	T	A	3: 9,767,030 (GRCm39)	T90S	probably benign	Het
Pald1	A	G	10: 61,176,708 (GRCm39)		probably null	Het
Parva	A	G	7: 112,144,005 (GRCm39)	M98V	probably benign	Het
Paxbp1	T	A	16: 90,834,255 (GRCm39)	D177V	possibly damaging	Het
Paxip1	A	G	5: 27,970,230 (GRCm39)	I587T	probably damaging	Het
Pclo	T	C	5: 14,730,390 (GRCm39)		probably benign	Het
Pdgfra	T	A	5: 75,355,713 (GRCm39)	D1074E	probably damaging	Het
Pef1	A	T	4: 130,021,241 (GRCm39)	D265V	probably damaging	Het
Plekhh2	G	A	17: 84,893,794 (GRCm39)	E870K	possibly damaging	Het
Plscr4	G	A	9: 92,364,695 (GRCm39)	G40D	probably damaging	Het
Psg18	A	G	7: 18,087,233 (GRCm39)	Y142H	probably benign	Het
Ptchd3	A	T	11: 121,733,017 (GRCm39)	M636L	probably benign	Het
Rab2a	A	G	4: 8,572,559 (GRCm39)	D51G	probably benign	Het
Rnf139	T	A	15: 58,771,755 (GRCm39)	D593E	probably benign	Het
Septin7	A	G	9: 25,217,552 (GRCm39)	N422S	probably benign	Het
Shprh	T	C	10: 11,069,914 (GRCm39)		probably benign	Het
Slc7a6os	A	G	8: 106,937,199 (GRCm39)	I87T	probably damaging	Het
Slc7a7	A	G	14: 54,615,381 (GRCm39)		probably benign	Het
Spc24	G	T	9: 21,668,609 (GRCm39)	N129K	possibly damaging	Het
Strip2	C	T	6: 29,926,559 (GRCm39)	T148I	probably benign	Het
Tmem150c	A	C	5: 100,234,132 (GRCm39)		probably null	Het
Trav13-5	A	G	14: 54,033,205 (GRCm39)	N38S	probably benign	Het
Ttn	G	T	2: 76,641,364 (GRCm39)	Y11801*	probably null	Het
Usp37	A	T	1: 74,493,223 (GRCm39)	L688*	probably null	Het
Usp38	T	C	8: 81,722,469 (GRCm39)	I351V	probably benign	Het
Wdr36	A	G	18: 32,985,968 (GRCm39)	I557M	possibly damaging	Het
Wwc2	A	T	8: 48,333,239 (GRCm39)	M259K	probably benign	Het
Znfx1	G	A	2: 166,888,898 (GRCm39)	S770L	probably benign	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
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'- AGTGACCAAGCATTAGCCACCAGG -3'
(R):5'- CTTTACAGGCTTAGGTGAGCACCC -3'

Sequencing Primer
(F):5'- CCCTACTATCAAAGTGAGGCTTGG -3'
(R):5'- GCTGGGCACTGACCATACTT -3'

Posted On

2013-04-16