Incidental Mutation 'IGL00926:Cavin2'
ID |
26645 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cavin2
|
Ensembl Gene |
ENSMUSG00000045954 |
Gene Name |
caveolae associated 2 |
Synonyms |
cavin 2, Sdpr |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.153)
|
Stock # |
IGL00926
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
51328285-51342119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 51340036 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 238
(K238E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055694
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051572]
|
AlphaFold |
Q63918 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000051572
AA Change: K238E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055694 Gene: ENSMUSG00000045954 AA Change: K238E
Domain | Start | End | E-Value | Type |
low complexity region
|
23 |
37 |
N/A |
INTRINSIC |
Pfam:PTRF_SDPR
|
52 |
294 |
3.8e-96 |
PFAM |
low complexity region
|
370 |
376 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189867
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009] PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal caveolae formation in lung and adipose endothelia and adipocytes with gaps in the lung capillaries. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agtr2 |
A |
T |
X: 21,352,524 (GRCm39) |
M53L |
probably benign |
Het |
Apob |
T |
C |
12: 8,065,421 (GRCm39) |
V4097A |
probably benign |
Het |
Brip1 |
T |
C |
11: 86,039,227 (GRCm39) |
K436E |
possibly damaging |
Het |
Cadps |
C |
A |
14: 12,491,795 (GRCm38) |
R785L |
probably damaging |
Het |
Ccdc158 |
G |
A |
5: 92,798,626 (GRCm39) |
T358I |
probably damaging |
Het |
Cds1 |
A |
G |
5: 101,957,767 (GRCm39) |
I246M |
probably damaging |
Het |
Cep19 |
A |
G |
16: 31,925,898 (GRCm39) |
E102G |
probably damaging |
Het |
Clec4a1 |
T |
A |
6: 122,899,014 (GRCm39) |
C28S |
possibly damaging |
Het |
Csmd3 |
T |
A |
15: 47,574,360 (GRCm39) |
Y2082F |
possibly damaging |
Het |
Fbn1 |
T |
A |
2: 125,160,962 (GRCm39) |
T2193S |
possibly damaging |
Het |
Gm24124 |
G |
T |
19: 13,611,421 (GRCm39) |
|
probably benign |
Het |
Gpbp1l1 |
T |
A |
4: 116,444,710 (GRCm39) |
|
probably null |
Het |
Helq |
T |
C |
5: 100,912,948 (GRCm39) |
|
probably benign |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Itga3 |
G |
A |
11: 94,956,712 (GRCm39) |
H122Y |
probably damaging |
Het |
Mettl18 |
T |
A |
1: 163,823,795 (GRCm39) |
S39T |
possibly damaging |
Het |
Ndst4 |
A |
T |
3: 125,355,102 (GRCm39) |
T337S |
probably benign |
Het |
Neb |
A |
G |
2: 52,160,329 (GRCm39) |
|
probably benign |
Het |
Nrbp1 |
T |
C |
5: 31,401,141 (GRCm39) |
S6P |
probably benign |
Het |
Oprk1 |
A |
G |
1: 5,669,128 (GRCm39) |
I191M |
probably damaging |
Het |
Or2a56 |
A |
T |
6: 42,933,370 (GRCm39) |
|
probably benign |
Het |
Or51k2 |
A |
G |
7: 103,596,204 (GRCm39) |
T144A |
probably benign |
Het |
Or52z13 |
A |
G |
7: 103,247,369 (GRCm39) |
N282S |
possibly damaging |
Het |
Psap |
T |
C |
10: 60,128,316 (GRCm39) |
V69A |
probably damaging |
Het |
Scn7a |
C |
T |
2: 66,514,475 (GRCm39) |
E1100K |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,014,155 (GRCm39) |
N423S |
possibly damaging |
Het |
Tpd52 |
A |
T |
3: 9,012,692 (GRCm39) |
|
probably null |
Het |
Trmt13 |
G |
A |
3: 116,383,884 (GRCm39) |
Q58* |
probably null |
Het |
Ttn |
T |
C |
2: 76,589,125 (GRCm39) |
E21346G |
probably damaging |
Het |
|
Other mutations in Cavin2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01951:Cavin2
|
APN |
1 |
51,328,570 (GRCm39) |
missense |
possibly damaging |
0.82 |
R1649:Cavin2
|
UTSW |
1 |
51,339,939 (GRCm39) |
missense |
probably benign |
0.09 |
R1676:Cavin2
|
UTSW |
1 |
51,340,330 (GRCm39) |
missense |
probably benign |
0.05 |
R1966:Cavin2
|
UTSW |
1 |
51,328,801 (GRCm39) |
missense |
probably damaging |
1.00 |
R3038:Cavin2
|
UTSW |
1 |
51,340,416 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3440:Cavin2
|
UTSW |
1 |
51,340,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R4128:Cavin2
|
UTSW |
1 |
51,340,581 (GRCm39) |
makesense |
probably null |
|
R4524:Cavin2
|
UTSW |
1 |
51,340,229 (GRCm39) |
missense |
probably benign |
0.25 |
R4660:Cavin2
|
UTSW |
1 |
51,340,510 (GRCm39) |
missense |
probably benign |
0.00 |
R4662:Cavin2
|
UTSW |
1 |
51,340,510 (GRCm39) |
missense |
probably benign |
0.00 |
R5091:Cavin2
|
UTSW |
1 |
51,340,398 (GRCm39) |
missense |
probably benign |
0.01 |
R5296:Cavin2
|
UTSW |
1 |
51,329,029 (GRCm39) |
critical splice donor site |
probably null |
|
R5844:Cavin2
|
UTSW |
1 |
51,328,998 (GRCm39) |
missense |
probably damaging |
1.00 |
R6141:Cavin2
|
UTSW |
1 |
51,340,097 (GRCm39) |
missense |
probably damaging |
1.00 |
R6177:Cavin2
|
UTSW |
1 |
51,328,654 (GRCm39) |
missense |
probably damaging |
1.00 |
R6252:Cavin2
|
UTSW |
1 |
51,328,828 (GRCm39) |
missense |
probably benign |
0.30 |
R7128:Cavin2
|
UTSW |
1 |
51,328,579 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7583:Cavin2
|
UTSW |
1 |
51,328,777 (GRCm39) |
missense |
possibly damaging |
0.93 |
R8051:Cavin2
|
UTSW |
1 |
51,340,283 (GRCm39) |
missense |
probably benign |
|
R9573:Cavin2
|
UTSW |
1 |
51,328,795 (GRCm39) |
missense |
probably damaging |
0.99 |
X0028:Cavin2
|
UTSW |
1 |
51,340,261 (GRCm39) |
missense |
probably benign |
0.07 |
Z1176:Cavin2
|
UTSW |
1 |
51,340,315 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Posted On |
2013-04-17 |