Incidental Mutation 'R3038:Cavin2'
| ID |
264872 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cavin2
|
| Ensembl Gene |
ENSMUSG00000045954 |
| Gene Name |
caveolae associated 2 |
| Synonyms |
cavin 2, Sdpr |
| MMRRC Submission |
040554-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R3038 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
51328285-51342119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 51340416 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 364
(N364K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051572]
|
| AlphaFold |
Q63918 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051572
AA Change: N364K
PolyPhen 2
Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000055694
Gene: ENSMUSG00000045954
AA Change: N364K
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Bspry |
A |
G |
4: 62,415,220 (GRCm39) |
I468V |
probably benign |
Het |
| Ces1f |
T |
A |
8: 93,983,226 (GRCm39) |
N506I |
probably damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,369,436 (GRCm39) |
Q4353L |
probably damaging |
Het |
| Dsc3 |
T |
C |
18: 20,124,617 (GRCm39) |
T36A |
possibly damaging |
Het |
| Hydin |
A |
G |
8: 111,309,321 (GRCm39) |
T4038A |
probably damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,297,790 (GRCm39) |
I1083V |
probably benign |
Het |
| Lmo2 |
T |
C |
2: 103,811,407 (GRCm39) |
Y147H |
probably damaging |
Het |
| Mrgpra1 |
G |
A |
7: 46,984,744 (GRCm39) |
Q312* |
probably null |
Het |
| Pcdha1 |
T |
A |
18: 37,064,064 (GRCm39) |
F243I |
probably damaging |
Het |
| Ppp1r18 |
T |
C |
17: 36,179,274 (GRCm39) |
L383P |
probably damaging |
Het |
| Tmed9 |
A |
G |
13: 55,744,792 (GRCm39) |
K207E |
probably damaging |
Het |
| Tnfrsf19 |
A |
G |
14: 61,209,512 (GRCm39) |
S253P |
probably benign |
Het |
| Tspear |
T |
A |
10: 77,722,273 (GRCm39) |
Y624* |
probably null |
Het |
| Vmn2r16 |
G |
A |
5: 109,487,199 (GRCm39) |
C140Y |
probably damaging |
Het |
| Vwa7 |
T |
C |
17: 35,241,637 (GRCm39) |
V424A |
probably damaging |
Het |
| Zgpat |
TGGAGGAGGAGGAGGAGGA |
TGGAGGAGGAGGAGGA |
2: 181,007,811 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Cavin2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00926:Cavin2
|
APN |
1 |
51,340,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCTTCTGGGAAAAGCTCC -3'
(R):5'- TGTTCTGGCTGTGCACTCAG -3'
Sequencing Primer
(F):5'- GAAAAGCTCCCCCTTCAAGGTTTC -3'
(R):5'- TCAGGCAGTCTGATCCACATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation