Incidental Mutation 'R7786:Vav2'
| ID |
599520 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vav2
|
| Ensembl Gene |
ENSMUSG00000009621 |
| Gene Name |
vav 2 oncogene |
| Synonyms |
2810040F13Rik |
| MMRRC Submission |
045842-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.338)
|
| Stock # |
R7786 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
27152116-27317045 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27276613 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 70
(L70F)
|
| 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: L70F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000062782
Gene: ENSMUSG00000009621
AA Change: L70F
| 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
|
| 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 |
0.6329 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
95% (42/44) |
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa2 |
T |
C |
18: 74,925,518 (GRCm39) |
S94P |
probably damaging |
Het |
| Adam18 |
C |
T |
8: 25,101,134 (GRCm39) |
R676H |
probably benign |
Het |
| Akna |
A |
G |
4: 63,313,199 (GRCm39) |
L308P |
probably benign |
Het |
| Ambra1 |
G |
C |
2: 91,598,141 (GRCm39) |
V101L |
possibly damaging |
Het |
| Arnt |
A |
G |
3: 95,392,267 (GRCm39) |
D377G |
probably damaging |
Het |
| Card6 |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG |
15: 5,128,173 (GRCm39) |
|
probably benign |
Het |
| Cdr1 |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC |
X: 60,228,130 (GRCm39) |
|
probably benign |
Het |
| Cfap210 |
A |
T |
2: 69,612,092 (GRCm39) |
W179R |
probably damaging |
Het |
| Cit |
C |
A |
5: 116,001,077 (GRCm39) |
Q159K |
probably benign |
Het |
| Dnah1 |
A |
T |
14: 30,984,478 (GRCm39) |
H3935Q |
probably damaging |
Het |
| Emc8 |
T |
C |
8: 121,394,656 (GRCm39) |
Y21C |
probably damaging |
Het |
| Fcrla |
G |
T |
1: 170,748,426 (GRCm39) |
P265Q |
possibly damaging |
Het |
| Gabbr1 |
A |
T |
17: 37,380,955 (GRCm39) |
N766I |
probably damaging |
Het |
| Galnt14 |
T |
A |
17: 74,016,976 (GRCm39) |
T27S |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,766,403 (GRCm39) |
S391T |
probably benign |
Het |
| Gatad2b |
T |
C |
3: 90,262,986 (GRCm39) |
I476T |
probably damaging |
Het |
| Gstcd |
C |
T |
3: 132,787,868 (GRCm39) |
V277M |
probably damaging |
Het |
| Gtf2ird1 |
C |
A |
5: 134,419,753 (GRCm39) |
G71* |
probably null |
Het |
| Hdac11 |
T |
A |
6: 91,150,158 (GRCm39) |
L319* |
probably null |
Het |
| Hsd11b2 |
T |
A |
8: 106,245,506 (GRCm39) |
W4R |
probably damaging |
Het |
| Katnip |
A |
G |
7: 125,464,466 (GRCm39) |
I1278V |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,798,965 (GRCm39) |
E240V |
probably damaging |
Het |
| Man2b1 |
C |
T |
8: 85,812,085 (GRCm39) |
Q180* |
probably null |
Het |
| Megf8 |
T |
C |
7: 25,017,120 (GRCm39) |
|
probably null |
Het |
| Mlh3 |
T |
C |
12: 85,313,511 (GRCm39) |
T892A |
probably benign |
Het |
| Mmp21 |
C |
T |
7: 133,276,764 (GRCm39) |
S413N |
probably benign |
Het |
| Nav1 |
T |
C |
1: 135,397,733 (GRCm39) |
D812G |
probably damaging |
Het |
| Nox4 |
T |
A |
7: 86,945,050 (GRCm39) |
I71N |
probably damaging |
Het |
| Oplah |
T |
A |
15: 76,193,916 (GRCm39) |
I14F |
possibly damaging |
Het |
| Or51i2 |
G |
A |
7: 103,689,930 (GRCm39) |
R309H |
unknown |
Het |
| Or52p1 |
T |
A |
7: 104,266,925 (GRCm39) |
I13N |
probably benign |
Het |
| Or5w16 |
A |
T |
2: 87,576,645 (GRCm39) |
Y35F |
probably damaging |
Het |
| Pik3ap1 |
A |
G |
19: 41,310,024 (GRCm39) |
M432T |
probably damaging |
Het |
| Plin3 |
G |
A |
17: 56,586,757 (GRCm39) |
T430I |
probably benign |
Het |
| Poc5 |
C |
A |
13: 96,541,027 (GRCm39) |
Q399K |
possibly damaging |
Het |
| Ptprz1 |
G |
A |
6: 23,036,992 (GRCm39) |
G2013R |
probably damaging |
Het |
| Rgs7bp |
T |
C |
13: 105,190,568 (GRCm39) |
D52G |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,901,276 (GRCm39) |
F2488V |
probably damaging |
Het |
| Tnfaip8 |
G |
C |
18: 50,180,178 (GRCm39) |
A110P |
unknown |
Het |
| Tnfaip8 |
C |
T |
18: 50,180,179 (GRCm39) |
A110V |
unknown |
Het |
| Top3a |
C |
T |
11: 60,667,792 (GRCm39) |
A46T |
probably damaging |
Het |
| Try10 |
T |
A |
6: 41,332,463 (GRCm39) |
S40T |
possibly damaging |
Het |
| Xylt1 |
C |
A |
7: 117,242,702 (GRCm39) |
|
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 |
|
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 |
|
|
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'- ATGTTCCCATCTGTGACACC -3'
(R):5'- GGAACATTCTTTCCCCTGGG -3'
Sequencing Primer
(F):5'- TCTCGGACATCAAAGAGG -3'
(R):5'- GAGGTTCTGAGCTCCAGC -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation