Mutagenetix > Incidental Mutation

Incidental Mutation 'R9015:Vav2'

685884

Institutional Source

Beutler Lab

Gene Symbol

Vav2

Ensembl Gene

ENSMUSG00000009621

Gene Name

vav 2 oncogene

Synonyms

2810040F13Rik

MMRRC Submission

068845-MU

Accession Numbers

Essential gene?

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

Stock #

R9015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

27152116-27317045 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 27160151 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 728 (E728*)

Ref Sequence

ENSEMBL: ENSMUSP00000062782 (fasta)

Gene Model

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

AlphaFold

Q60992

Predicted Effect

probably null
Transcript: ENSMUST00000056176
AA Change: E728*

SMART Domains

Protein: ENSMUSP00000062782
Gene: ENSMUSG00000009621
AA Change: E728*

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 null
Transcript: ENSMUST00000185188
AA Change: E699*

SMART Domains

Protein: ENSMUSP00000138964
Gene: ENSMUSG00000009621
AA Change: E699*

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: 99.7%
20x: 98.9%

Validation Efficiency

100% (93/93)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	T	C	5: 8,136,688 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,150,847 (GRCm39)	D335G	probably damaging	Het
Adcy8	T	C	15: 64,597,206 (GRCm39)		probably benign	Het
Alas1	A	T	9: 106,113,670 (GRCm39)	I525N	probably benign	Het
Aoah	A	T	13: 21,184,197 (GRCm39)		silent	Het
Aox1	G	A	1: 58,382,851 (GRCm39)	V1044M	probably damaging	Het
Apcdd1	A	T	18: 63,083,157 (GRCm39)	Y329F	possibly damaging	Het
Arhgap10	A	C	8: 77,985,687 (GRCm39)	C727G	probably benign	Het
Arid4a	G	A	12: 71,122,168 (GRCm39)	D528N	possibly damaging	Het
Atp8a1	A	G	5: 67,887,250 (GRCm39)	V611A		Het
BC004004	T	C	17: 29,517,637 (GRCm39)	F284L	probably damaging	Het
Bean1	CT	C	8: 104,908,664 (GRCm39)		probably null	Het
Cep295	T	C	9: 15,244,264 (GRCm39)	I1397M	probably benign	Het
Cep63	A	G	9: 102,496,111 (GRCm39)	S99P	probably damaging	Het
Coq3	T	A	4: 21,899,107 (GRCm39)	S147T	probably benign	Het
Crym	A	T	7: 119,801,090 (GRCm39)	S20T	probably benign	Het
Ctr9	T	A	7: 110,643,108 (GRCm39)	N493K	probably benign	Het
Dchs2	A	G	3: 83,188,751 (GRCm39)	I1372V	possibly damaging	Het
Ddi2	G	A	4: 141,412,747 (GRCm39)	T55M	probably benign	Het
Dnah1	T	C	14: 30,986,316 (GRCm39)	M3724V	probably damaging	Het
Dst	A	G	1: 34,326,337 (GRCm39)	I4690V	probably benign	Het
Ect2l	T	C	10: 18,039,148 (GRCm39)	T429A	probably benign	Het
Eif3c	G	T	7: 126,155,538 (GRCm39)	H577N	probably damaging	Het
Erg	A	G	16: 95,162,126 (GRCm39)	S334P	possibly damaging	Het
Faf2	A	G	13: 54,796,139 (GRCm39)	S127G	probably benign	Het
Fbxl3	T	A	14: 103,329,790 (GRCm39)	T141S	possibly damaging	Het
Fbxw4	T	A	19: 45,624,874 (GRCm39)	M122L	probably benign	Het
Fgd4	T	C	16: 16,271,941 (GRCm39)	M476V	probably damaging	Het
Flvcr2	A	T	12: 85,829,779 (GRCm39)	I263F	probably benign	Het
Gadl1	A	T	9: 115,794,705 (GRCm39)	R293S	probably benign	Het
Gm11983	G	T	11: 6,787,033 (GRCm39)	F31L	unknown	Het
Gmnn	A	T	13: 24,940,638 (GRCm39)	N70K	probably benign	Het
Gpr3	A	G	4: 132,938,390 (GRCm39)	V94A	possibly damaging	Het
Greb1l	A	G	18: 10,541,675 (GRCm39)	S1141G	probably benign	Het
Helz2	A	T	2: 180,870,792 (GRCm39)	V2892E	probably damaging	Het
Hivep1	T	A	13: 42,311,849 (GRCm39)	M1363K	probably benign	Het
Hk1	T	A	10: 62,128,118 (GRCm39)	T336S	possibly damaging	Het
Hpgds	A	T	6: 65,115,229 (GRCm39)	I18N	possibly damaging	Het
Insrr	T	A	3: 87,720,910 (GRCm39)	L1056Q	probably damaging	Het
Ints10	A	G	8: 69,260,139 (GRCm39)	M288V	probably benign	Het
Itgb6	T	C	2: 60,485,032 (GRCm39)	D237G	probably damaging	Het
Kcnf1	A	G	12: 17,225,303 (GRCm39)	I306T	probably damaging	Het
Kdm3b	G	A	18: 34,963,212 (GRCm39)	G1556D	probably damaging	Het
Kif5b	A	G	18: 6,216,892 (GRCm39)	L477P	probably damaging	Het
Klf5	T	G	14: 99,540,919 (GRCm39)	*310G	probably null	Het
Lnx1	A	G	5: 74,780,783 (GRCm39)	V246A	probably benign	Het
Ly75	C	T	2: 60,146,442 (GRCm39)	E1279K	probably benign	Het
Lztr1	T	A	16: 17,337,305 (GRCm39)	C233S	probably benign	Het
Mfsd6l	T	G	11: 68,447,536 (GRCm39)	I129S	probably benign	Het
Mrgprx2	T	A	7: 48,148,938 (GRCm39)		probably benign	Het
Ncapd2	A	T	6: 125,145,285 (GRCm39)		probably benign	Het
Or10ag53	T	A	2: 87,082,546 (GRCm39)	Y88*	probably null	Het
Or12e9	T	A	2: 87,202,485 (GRCm39)	M203K	possibly damaging	Het
Or2a25	G	T	6: 42,888,825 (GRCm39)	V123L	possibly damaging	Het
Or8g30	A	C	9: 39,230,019 (GRCm39)	V297G	probably damaging	Het
Pde6a	A	G	18: 61,397,047 (GRCm39)	H631R	probably damaging	Het
Pfkl	C	T	10: 77,824,794 (GRCm39)	G665D	probably damaging	Het
Pik3ap1	T	A	19: 41,270,430 (GRCm39)	E753V	probably damaging	Het
Pik3cd	G	T	4: 149,740,055 (GRCm39)	R502S	probably benign	Het
Piwil2	T	A	14: 70,627,984 (GRCm39)	I762L	probably benign	Het
Pkd1	T	A	17: 24,784,636 (GRCm39)	L394*	probably null	Het
Plekhb2	A	G	1: 34,916,046 (GRCm39)	D195G	probably benign	Het
Plppr5	T	C	3: 117,456,103 (GRCm39)	M208T	probably damaging	Het
Polr2i	G	A	7: 29,932,513 (GRCm39)	V115I	unknown	Het
Prkacb	T	C	3: 146,456,239 (GRCm39)	S187G	probably null	Het
Prkag3	G	T	1: 74,780,353 (GRCm39)	H437Q	probably benign	Het
Prlr	T	A	15: 10,319,352 (GRCm39)	Y94N	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Psd4	A	G	2: 24,287,492 (GRCm39)	R475G		Het
Rad51b	G	A	12: 79,347,417 (GRCm39)	C27Y	probably damaging	Het
Scfd2	A	G	5: 74,691,625 (GRCm39)	L219P	probably damaging	Het
Scn5a	G	A	9: 119,381,142 (GRCm39)		probably benign	Het
Sec24d	T	C	3: 123,121,287 (GRCm39)	V391A	probably benign	Het
Selenbp2	T	A	3: 94,607,332 (GRCm39)	L251Q	probably damaging	Het
Sh3rf1	T	C	8: 61,827,202 (GRCm39)	V652A	probably benign	Het
Slc11a2	A	G	15: 100,301,186 (GRCm39)	V289A	probably benign	Het
Smim29	T	C	17: 27,783,223 (GRCm39)	D48G	probably benign	Het
Sox8	T	A	17: 25,789,135 (GRCm39)	Y121F	probably damaging	Het
Taar7a	A	T	10: 23,868,733 (GRCm39)	I216N	probably damaging	Het
Tanc1	T	A	2: 59,622,224 (GRCm39)	S448T	probably benign	Het
Tas2r119	G	A	15: 32,178,226 (GRCm39)	G264D	probably damaging	Het
Trav7-6	A	G	14: 53,954,604 (GRCm39)	K65E	probably benign	Het
Trim17	A	G	11: 58,856,057 (GRCm39)	E38G	probably damaging	Het
Trub2	A	T	2: 29,668,276 (GRCm39)		probably benign	Het
Ttn	T	A	2: 76,571,964 (GRCm39)	M26310L	probably damaging	Het
Unc13c	T	G	9: 73,453,322 (GRCm39)	I1823L	probably benign	Het
Virma	A	G	4: 11,540,494 (GRCm39)	D1465G	probably benign	Het
Vmn2r72	T	G	7: 85,398,388 (GRCm39)	M531L	probably benign	Het
Vwa3b	G	A	1: 37,203,597 (GRCm39)	V59I	possibly damaging	Het
Xrcc1	G	A	7: 24,271,642 (GRCm39)	E542K	probably benign	Het
Zdhhc6	T	G	19: 55,287,318 (GRCm39)	T381P	probably benign	Het
Zdhhc8	T	C	16: 18,041,141 (GRCm39)	S740G	probably damaging	Het
Zfp106	T	C	2: 120,364,019 (GRCm39)	K819R	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
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
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'- ACATGACTCCAACTGTTCCC -3'
(R):5'- TGGAAGATCTGCTCAAATGGAG -3'

Sequencing Primer
(F):5'- CAGGAATCCTGTCAAGTGTCTCTAG -3'
(R):5'- ATCTGCTCAAATGGAGTGGGCC -3'

Posted On

2021-10-11