Incidental Mutation 'R4162:Vasp'
| ID |
321558 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Vasp
|
| Ensembl Gene |
ENSMUSG00000030403 |
| Gene Name |
vasodilator-stimulated phosphoprotein |
| Synonyms |
|
| MMRRC Submission |
041005-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.579)
|
| Stock # |
R4162 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
18990854-19005742 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 18993397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000032561
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032561]
[ENSMUST00000032561]
[ENSMUST00000161711]
|
| AlphaFold |
P70460 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000032561
|
| SMART Domains |
Protein: ENSMUSP00000032561
Gene: ENSMUSG00000030403
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
110 |
1.14e-46 |
SMART |
|
low complexity region
|
155 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
229 |
N/A |
INTRINSIC |
|
Pfam:VASP_tetra
|
336 |
372 |
6.3e-20 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000032561
|
| SMART Domains |
Protein: ENSMUSP00000032561
Gene: ENSMUSG00000030403
| Domain | Start | End | E-Value | Type |
|---|
|
WH1
|
1 |
110 |
1.14e-46 |
SMART |
|
low complexity region
|
155 |
183 |
N/A |
INTRINSIC |
|
low complexity region
|
185 |
229 |
N/A |
INTRINSIC |
|
Pfam:VASP_tetra
|
336 |
372 |
6.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159981
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161488
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161711
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162717
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206229
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.7%
- 20x: 96.3%
|
| Validation Efficiency |
93% (38/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Vasodilator-stimulated phosphoprotein (VASP) is a member of the Ena-VASP protein family. Ena-VASP family members contain an EHV1 N-terminal domain that binds proteins containing E/DFPPPPXD/E motifs and targets Ena-VASP proteins to focal adhesions. In the mid-region of the protein, family members have a proline-rich domain that binds SH3 and WW domain-containing proteins. Their C-terminal EVH2 domain mediates tetramerization and binds both G and F actin. VASP is associated with filamentous actin formation and likely plays a widespread role in cell adhesion and motility. VASP may also be involved in the intracellular signaling pathways that regulate integrin-extracellular matrix interactions. VASP is regulated by the cyclic nucleotide-dependent kinases PKA and PKG. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants exhibit hyperplasia of megakaryocytes, and mutant platelets activated by thrombin display two-fold higher surface expression of P-selectin and fibrinogen binding. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
T |
A |
10: 83,342,518 (GRCm39) |
I431F |
possibly damaging |
Het |
| Atrn |
A |
G |
2: 130,836,148 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
C |
T |
9: 13,723,929 (GRCm39) |
|
probably null |
Het |
| Cgas |
G |
A |
9: 78,341,686 (GRCm39) |
R364C |
probably damaging |
Het |
| Cybc1 |
T |
C |
11: 121,115,492 (GRCm39) |
D109G |
probably damaging |
Het |
| Defb41 |
C |
T |
1: 18,330,821 (GRCm39) |
C42Y |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,522,061 (GRCm39) |
G4033D |
probably damaging |
Het |
| Flnb |
A |
T |
14: 7,915,374 (GRCm38) |
I1502F |
possibly damaging |
Het |
| Gli3 |
G |
T |
13: 15,899,700 (GRCm39) |
S1029I |
possibly damaging |
Het |
| Gm10722 |
A |
C |
9: 3,001,041 (GRCm39) |
Y39S |
probably benign |
Het |
| Gm5592 |
A |
G |
7: 40,867,202 (GRCm39) |
|
probably benign |
Het |
| Grin2d |
T |
C |
7: 45,507,042 (GRCm39) |
K478E |
probably damaging |
Het |
| Il18 |
T |
C |
9: 50,490,712 (GRCm39) |
S116P |
probably damaging |
Het |
| Itsn1 |
C |
A |
16: 91,649,790 (GRCm39) |
P155T |
probably benign |
Het |
| Kdm5b |
C |
T |
1: 134,552,899 (GRCm39) |
P1292S |
probably benign |
Het |
| Mef2b |
T |
C |
8: 70,618,961 (GRCm39) |
F181S |
probably damaging |
Het |
| Mfn1 |
T |
C |
3: 32,617,147 (GRCm39) |
|
probably benign |
Het |
| Mfsd12 |
A |
G |
10: 81,196,931 (GRCm39) |
|
probably null |
Het |
| Myo10 |
T |
A |
15: 25,726,501 (GRCm39) |
|
probably null |
Het |
| Nrxn2 |
G |
A |
19: 6,582,173 (GRCm39) |
V660I |
probably damaging |
Het |
| Nsun4 |
G |
T |
4: 115,891,391 (GRCm39) |
Y329* |
probably null |
Het |
| Pank4 |
T |
C |
4: 155,064,051 (GRCm39) |
|
probably null |
Het |
| Plcb2 |
T |
A |
2: 118,540,068 (GRCm39) |
E1075V |
probably damaging |
Het |
| Prep |
G |
T |
10: 44,943,458 (GRCm39) |
R11L |
possibly damaging |
Het |
| Prkcd |
A |
G |
14: 30,323,154 (GRCm39) |
F461L |
probably damaging |
Het |
| Saxo5 |
C |
T |
8: 3,529,067 (GRCm39) |
P214L |
probably damaging |
Het |
| Snx21 |
T |
C |
2: 164,628,770 (GRCm39) |
Y138H |
probably damaging |
Het |
| Spout1 |
C |
T |
2: 30,067,589 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
T |
C |
8: 34,071,586 (GRCm39) |
S2378P |
probably damaging |
Het |
| Thap12 |
C |
T |
7: 98,359,285 (GRCm39) |
|
probably benign |
Het |
| Trav3-1 |
T |
C |
14: 52,818,496 (GRCm39) |
Y57H |
probably damaging |
Het |
| Ttc39c |
A |
G |
18: 12,857,994 (GRCm39) |
|
probably null |
Het |
| Tubgcp3 |
C |
T |
8: 12,689,547 (GRCm39) |
R573Q |
possibly damaging |
Het |
| Ush2a |
A |
C |
1: 188,475,877 (GRCm39) |
K2938T |
probably benign |
Het |
| Zfhx3 |
C |
A |
8: 109,683,619 (GRCm39) |
T3686K |
unknown |
Het |
|
| Other mutations in Vasp |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02121:Vasp
|
APN |
7 |
18,991,637 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02496:Vasp
|
APN |
7 |
18,992,748 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02542:Vasp
|
APN |
7 |
18,998,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Vasp
|
UTSW |
7 |
18,992,958 (GRCm39) |
unclassified |
probably benign |
|
|
R1646:Vasp
|
UTSW |
7 |
18,994,903 (GRCm39) |
unclassified |
probably benign |
|
|
R4670:Vasp
|
UTSW |
7 |
18,998,350 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4938:Vasp
|
UTSW |
7 |
18,991,642 (GRCm39) |
makesense |
probably null |
|
|
R5122:Vasp
|
UTSW |
7 |
18,998,697 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5175:Vasp
|
UTSW |
7 |
18,998,594 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5206:Vasp
|
UTSW |
7 |
18,992,780 (GRCm39) |
unclassified |
probably benign |
|
|
R5595:Vasp
|
UTSW |
7 |
18,991,816 (GRCm39) |
unclassified |
probably benign |
|
|
R7042:Vasp
|
UTSW |
7 |
18,995,946 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8797:Vasp
|
UTSW |
7 |
18,994,563 (GRCm39) |
missense |
unknown |
|
|
R9066:Vasp
|
UTSW |
7 |
18,998,433 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9264:Vasp
|
UTSW |
7 |
18,993,376 (GRCm39) |
missense |
unknown |
|
|
Z1176:Vasp
|
UTSW |
7 |
18,998,413 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- TACCCTTTCTATGCCAATATTCAGG -3'
(R):5'- ATGAGTGTGCCCATGACTC -3'
Sequencing Primer
(F):5'- TCTATGCCAATATTCAGGTCCAAAGC -3'
(R):5'- TAAGCTGCAGGACTCAGTTC -3'
|
| Posted On |
2015-06-12 |
Incidental Mutation