Incidental Mutation 'R4128:Cavin2'
| ID |
315460 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Cavin2
|
| Ensembl Gene |
ENSMUSG00000045954 |
| Gene Name |
caveolae associated 2 |
| Synonyms |
cavin 2, Sdpr |
| MMRRC Submission |
041635-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.153)
|
| Stock # |
R4128 (G1)
|
| Quality Score |
199 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
51328285-51342119 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 51340581 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 419
(*419W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000055694
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051572]
|
| AlphaFold |
Q63918 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000051572
AA Change: *419W
|
| SMART Domains |
Protein: ENSMUSP00000055694
Gene: ENSMUSG00000045954
AA Change: *419W
| 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: 99.4%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.5%
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
T |
3: 95,588,982 (GRCm39) |
R483Q |
probably benign |
Het |
| Bbox1 |
A |
G |
2: 110,100,525 (GRCm39) |
V224A |
probably benign |
Het |
| Cdk19 |
A |
G |
10: 40,270,391 (GRCm39) |
I67V |
probably benign |
Het |
| Cds2 |
A |
G |
2: 132,139,191 (GRCm39) |
T145A |
probably benign |
Het |
| Chn2 |
G |
T |
6: 54,249,963 (GRCm39) |
R24M |
probably damaging |
Het |
| Csl |
T |
C |
10: 99,594,462 (GRCm39) |
D201G |
probably benign |
Het |
| Erap1 |
T |
C |
13: 74,814,315 (GRCm39) |
I33T |
probably damaging |
Het |
| Ermap |
T |
C |
4: 119,044,308 (GRCm39) |
T163A |
possibly damaging |
Het |
| Gnas |
A |
G |
2: 174,141,958 (GRCm39) |
N709S |
possibly damaging |
Het |
| Hsd17b14 |
G |
A |
7: 45,212,432 (GRCm39) |
V155M |
probably damaging |
Het |
| Igf2bp2 |
C |
T |
16: 21,897,371 (GRCm39) |
V281I |
probably benign |
Het |
| Ighj4 |
T |
C |
12: 113,392,176 (GRCm39) |
|
probably benign |
Het |
| Ireb2 |
T |
A |
9: 54,788,716 (GRCm39) |
D63E |
probably benign |
Het |
| Jarid2 |
T |
C |
13: 45,055,732 (GRCm39) |
S313P |
probably damaging |
Het |
| Kcnj11 |
A |
G |
7: 45,749,143 (GRCm39) |
F60S |
probably damaging |
Het |
| Lyplal1 |
A |
G |
1: 185,821,736 (GRCm39) |
C129R |
possibly damaging |
Het |
| Mertk |
C |
T |
2: 128,619,358 (GRCm39) |
Q539* |
probably null |
Het |
| Myrip |
C |
A |
9: 120,293,764 (GRCm39) |
S753* |
probably null |
Het |
| Narf |
G |
A |
11: 121,141,261 (GRCm39) |
|
probably null |
Het |
| Neb |
C |
A |
2: 52,182,712 (GRCm39) |
L1051F |
probably damaging |
Het |
| Nid1 |
T |
C |
13: 13,650,957 (GRCm39) |
V498A |
probably damaging |
Het |
| Or10ab5 |
T |
C |
7: 108,245,633 (GRCm39) |
N50S |
probably benign |
Het |
| Or14j8 |
A |
G |
17: 38,263,681 (GRCm39) |
I78T |
probably benign |
Het |
| Pam |
A |
G |
1: 97,762,193 (GRCm39) |
Y691H |
probably damaging |
Het |
| Poln |
A |
G |
5: 34,261,295 (GRCm39) |
S561P |
probably benign |
Het |
| Rab39 |
T |
A |
9: 53,597,804 (GRCm39) |
I154L |
probably benign |
Het |
| Rnf187 |
A |
T |
11: 58,824,883 (GRCm39) |
S220T |
probably benign |
Het |
| Stac |
C |
A |
9: 111,433,126 (GRCm39) |
|
probably null |
Het |
| Stxbp3 |
T |
C |
3: 108,702,147 (GRCm39) |
Q553R |
probably benign |
Het |
| Tmem179 |
A |
T |
12: 112,477,461 (GRCm39) |
F8I |
possibly damaging |
Het |
| Trip11 |
G |
A |
12: 101,861,957 (GRCm39) |
Q203* |
probably null |
Het |
| Ubash3a |
T |
C |
17: 31,456,249 (GRCm39) |
Y506H |
probably damaging |
Het |
| Unc13c |
C |
A |
9: 73,641,819 (GRCm39) |
A1225S |
probably damaging |
Het |
| Zranb1 |
C |
A |
7: 132,568,281 (GRCm39) |
S313* |
probably null |
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 |
|
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 |
|
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'- GTAATGCGGATCTGACCATTGAG -3'
(R):5'- CTGACTAAGCCAAAGAGATAGTTG -3'
Sequencing Primer
(F):5'- CGGATCTGACCATTGAGGAAGATG -3'
(R):5'- TTTGCAATCTTGGAGAAACTCTAC -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation