Incidental Mutation 'IGL02944:Cav2'
ID |
364642 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cav2
|
Ensembl Gene |
ENSMUSG00000000058 |
Gene Name |
caveolin 2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02944
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
17281184-17289114 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 17281456 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 33
(Y33H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000111122
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000000058]
[ENSMUST00000115459]
[ENSMUST00000115462]
|
AlphaFold |
Q9WVC3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000000058
AA Change: Y33H
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000000058 Gene: ENSMUSG00000000058 AA Change: Y33H
Domain | Start | End | E-Value | Type |
Pfam:Caveolin
|
17 |
160 |
7.9e-59 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000115459
AA Change: Y33H
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000111119 Gene: ENSMUSG00000000058 AA Change: Y33H
Domain | Start | End | E-Value | Type |
Pfam:Caveolin
|
15 |
113 |
6.6e-46 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000115462
AA Change: Y33H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131334
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene belongs to the caveolin family whose members encode the major protein components of caveolae, which are invaginations of plasma membrane. This gene is located adjacent to caveolin-1 and the proteins coexpressed by the two genes localize together in caveolae, where they form hetero-oligomers. The encoded protein may be involved in diverse cellular functions including proliferation, differentiation, endocytosis and trafficking. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013] PHENOTYPE: Mice homozygous for a null allele show lung parenchyma hypercellularity, alveolar constriction and septal thickening, impaired exercise endurance, and skeletal muscle defects. Mice homozygous for a different null allele show reduced tumor vascularization and growth of subcutaneously implanted tumors. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
A |
G |
7: 75,258,405 (GRCm39) |
Q343R |
probably benign |
Het |
Antxr1 |
T |
A |
6: 87,165,141 (GRCm39) |
N432I |
possibly damaging |
Het |
Arhgap15 |
T |
C |
2: 44,032,362 (GRCm39) |
|
probably null |
Het |
Atp6v1h |
T |
A |
1: 5,163,578 (GRCm39) |
|
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,164,667 (GRCm39) |
D585V |
probably benign |
Het |
Coro7 |
T |
C |
16: 4,453,276 (GRCm39) |
D271G |
probably benign |
Het |
Cylc1 |
T |
A |
X: 110,167,373 (GRCm39) |
D551E |
possibly damaging |
Het |
Dnah1 |
A |
T |
14: 31,022,828 (GRCm39) |
I1103N |
possibly damaging |
Het |
Gmds |
T |
A |
13: 32,522,435 (GRCm39) |
Y11F |
probably benign |
Het |
Igkv13-54-1 |
C |
T |
6: 69,594,374 (GRCm39) |
|
noncoding transcript |
Het |
Irf8 |
A |
G |
8: 121,481,864 (GRCm39) |
T318A |
probably benign |
Het |
Lrrc40 |
G |
A |
3: 157,747,302 (GRCm39) |
|
probably benign |
Het |
Mageb11 |
A |
G |
X: 89,935,868 (GRCm39) |
K41E |
probably benign |
Het |
Mbd1 |
G |
A |
18: 74,410,481 (GRCm39) |
G428E |
probably damaging |
Het |
Myom2 |
A |
T |
8: 15,154,065 (GRCm39) |
|
probably null |
Het |
Nav2 |
C |
T |
7: 49,070,004 (GRCm39) |
R287W |
probably damaging |
Het |
Nfs1 |
C |
T |
2: 155,969,688 (GRCm39) |
D320N |
probably damaging |
Het |
Nlrp9a |
A |
T |
7: 26,258,076 (GRCm39) |
T565S |
probably benign |
Het |
Nod1 |
A |
T |
6: 54,901,932 (GRCm39) |
I951N |
possibly damaging |
Het |
Or1n1b |
T |
G |
2: 36,780,800 (GRCm39) |
E20A |
possibly damaging |
Het |
Or2ag1b |
A |
G |
7: 106,288,476 (GRCm39) |
L154P |
probably damaging |
Het |
Or52e8b |
A |
G |
7: 104,674,130 (GRCm39) |
L19P |
probably damaging |
Het |
Or8d2 |
A |
T |
9: 38,760,048 (GRCm39) |
I213F |
possibly damaging |
Het |
Pkhd1l1 |
T |
C |
15: 44,364,927 (GRCm39) |
Y689H |
probably damaging |
Het |
Ppp2r5c |
A |
G |
12: 110,534,234 (GRCm39) |
I366V |
probably benign |
Het |
Ppp3cb |
T |
C |
14: 20,578,303 (GRCm39) |
Y149C |
probably damaging |
Het |
Prdm1 |
T |
C |
10: 44,317,807 (GRCm39) |
S354G |
probably benign |
Het |
Ralgapa1 |
T |
A |
12: 55,804,736 (GRCm39) |
Q520L |
probably benign |
Het |
Slc25a54 |
A |
T |
3: 108,987,931 (GRCm39) |
Y24F |
probably benign |
Het |
Slfn3 |
T |
A |
11: 83,103,837 (GRCm39) |
V236E |
probably damaging |
Het |
Syt6 |
A |
G |
3: 103,482,865 (GRCm39) |
|
probably benign |
Het |
Trim30a |
G |
T |
7: 104,084,984 (GRCm39) |
N75K |
probably benign |
Het |
Vmn1r175 |
T |
C |
7: 23,508,591 (GRCm39) |
E12G |
probably damaging |
Het |
Xylt1 |
A |
T |
7: 117,233,984 (GRCm39) |
T504S |
probably benign |
Het |
|
Other mutations in Cav2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
grotto
|
UTSW |
6 |
17,281,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R1689:Cav2
|
UTSW |
6 |
17,281,421 (GRCm39) |
missense |
probably benign |
0.00 |
R3859:Cav2
|
UTSW |
6 |
17,281,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R4657:Cav2
|
UTSW |
6 |
17,281,409 (GRCm39) |
missense |
probably null |
1.00 |
R5187:Cav2
|
UTSW |
6 |
17,286,935 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5359:Cav2
|
UTSW |
6 |
17,287,064 (GRCm39) |
unclassified |
probably benign |
|
R5510:Cav2
|
UTSW |
6 |
17,287,012 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6176:Cav2
|
UTSW |
6 |
17,286,918 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6747:Cav2
|
UTSW |
6 |
17,286,950 (GRCm39) |
missense |
probably damaging |
0.97 |
R6939:Cav2
|
UTSW |
6 |
17,281,410 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7378:Cav2
|
UTSW |
6 |
17,282,059 (GRCm39) |
missense |
probably benign |
0.00 |
R7452:Cav2
|
UTSW |
6 |
17,282,075 (GRCm39) |
missense |
probably damaging |
1.00 |
R7569:Cav2
|
UTSW |
6 |
17,282,078 (GRCm39) |
missense |
probably damaging |
1.00 |
R8123:Cav2
|
UTSW |
6 |
17,286,992 (GRCm39) |
nonsense |
probably null |
|
R8789:Cav2
|
UTSW |
6 |
17,281,996 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Cav2
|
UTSW |
6 |
17,281,432 (GRCm39) |
missense |
probably benign |
0.44 |
|
Posted On |
2015-12-18 |