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) question?
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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