Incidental Mutation 'IGL01945:Cavin1'
ID 181214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cavin1
Ensembl Gene ENSMUSG00000004044
Gene Name caveolae associated 1
Synonyms 2310075E07Rik, Cavin, cavin-1, Ptrf
Accession Numbers
Essential gene? Not available question?
Stock # IGL01945
Quality Score
Status
Chromosome 11
Chromosomal Location 100847562-100861443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100861246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 16 (F16Y)
Ref Sequence ENSEMBL: ENSMUSP00000058321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060792]
AlphaFold O54724
Predicted Effect probably benign
Transcript: ENSMUST00000060792
AA Change: F16Y

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000058321
Gene: ENSMUSG00000004044
AA Change: F16Y

DomainStartEndE-ValueType
Pfam:PTRF_SDPR 50 322 3.7e-102 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132934
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 protein that enables the dissociation of paused ternary polymerase I transcription complexes from the 3' end of pre-rRNA transcripts. This protein regulates rRNA transcription by promoting the dissociation of transcription complexes and the reinitiation of polymerase I on nascent rRNA transcripts. This protein also localizes to caveolae at the plasma membrane and is thought to play a critical role in the formation of caveolae and the stabilization of caveolins. This protein translocates from caveolae to the cytoplasm after insulin stimulation. Caveolae contain truncated forms of this protein and may be the site of phosphorylation-dependent proteolysis. This protein is also thought to modify lipid metabolism and insulin-regulated gene expression. Mutations in this gene result in a disorder characterized by generalized lipodystrophy and muscular dystrophy. [provided by RefSeq, Nov 2009]
PHENOTYPE: Mice homozygous for a null allele exhibit the absence of calveolae, dyslipidemia, and glucose intolerance, pulmonary arterial hypertension, and urinary bladder abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a A C 11: 109,974,130 (GRCm39) probably benign Het
Acta2 A G 19: 34,229,254 (GRCm39) V45A probably benign Het
Adam11 G A 11: 102,663,736 (GRCm39) V305M probably damaging Het
Adcy1 A G 11: 7,111,891 (GRCm39) K919E probably damaging Het
Afap1l1 T C 18: 61,889,934 (GRCm39) T101A probably benign Het
Apbb2 T A 5: 66,557,594 (GRCm39) D289V probably damaging Het
Appl1 A G 14: 26,650,612 (GRCm39) V520A possibly damaging Het
Atp5mc3 G A 2: 73,741,313 (GRCm39) R9C probably benign Het
Atp8a2 A G 14: 60,263,609 (GRCm39) L375P probably damaging Het
Ccdc185 C A 1: 182,576,441 (GRCm39) V83L probably benign Het
Ccdc80 T A 16: 44,938,608 (GRCm39) S772T probably damaging Het
Cntn4 T A 6: 106,414,865 (GRCm39) V132E probably damaging Het
Coa5 A T 1: 37,468,979 (GRCm39) C24S probably damaging Het
Col6a5 A T 9: 105,805,489 (GRCm39) V1139D unknown Het
Ddx46 C A 13: 55,802,885 (GRCm39) S469* probably null Het
Ep300 A G 15: 81,500,310 (GRCm39) probably benign Het
Fcna A T 2: 25,517,847 (GRCm39) M1K probably null Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gstm3 T C 3: 107,874,973 (GRCm39) E93G probably damaging Het
Gtse1 A G 15: 85,755,748 (GRCm39) T471A probably benign Het
Hepacam2 T A 6: 3,487,117 (GRCm39) Y4F probably benign Het
Hipk1 T C 3: 103,651,320 (GRCm39) I1148V possibly damaging Het
Il1r2 A G 1: 40,141,613 (GRCm39) T9A possibly damaging Het
Kl A T 5: 150,912,402 (GRCm39) D717V probably damaging Het
Krt75 G A 15: 101,478,599 (GRCm39) T345M possibly damaging Het
Myo5a T A 9: 75,047,953 (GRCm39) H260Q probably damaging Het
Nckap1l G A 15: 103,370,069 (GRCm39) G156D probably damaging Het
Nlrp1b T G 11: 71,072,233 (GRCm39) T537P probably damaging Het
Nudt17 A G 3: 96,614,355 (GRCm39) I201T probably damaging Het
Or5k3 T C 16: 58,969,827 (GRCm39) S205P probably benign Het
Or6c8 A T 10: 128,915,172 (GRCm39) I220N probably damaging Het
Or7g27 A T 9: 19,250,628 (GRCm39) S291C probably damaging Het
Padi6 T C 4: 140,469,235 (GRCm39) D35G probably benign Het
Plcb1 A T 2: 135,062,711 (GRCm39) Y107F probably benign Het
Plek2 T A 12: 78,938,922 (GRCm39) H279L probably damaging Het
Plk2 A G 13: 110,535,588 (GRCm39) D470G possibly damaging Het
Ranbp17 T C 11: 33,278,520 (GRCm39) T116A possibly damaging Het
Rbck1 G A 2: 152,160,236 (GRCm39) P481L probably damaging Het
Reps1 A G 10: 17,969,584 (GRCm39) N229S probably benign Het
Rngtt T C 4: 33,339,073 (GRCm39) W293R probably damaging Het
Robo1 A T 16: 72,759,114 (GRCm39) I376F probably damaging Het
Ryr2 T A 13: 11,805,249 (GRCm39) I872F probably damaging Het
Sgip1 T C 4: 102,823,439 (GRCm39) Y707H probably damaging Het
Slc17a5 G T 9: 78,495,214 (GRCm39) D12E probably benign Het
Slco1a5 T A 6: 142,189,715 (GRCm39) probably null Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Strap A G 6: 137,718,333 (GRCm39) I146V probably benign Het
Tcim A T 8: 24,928,892 (GRCm39) H7Q probably benign Het
Tgfbr3 A G 5: 107,269,224 (GRCm39) probably null Het
Thada G T 17: 84,530,194 (GRCm39) T1725N probably benign Het
Trhr T C 15: 44,060,540 (GRCm39) V20A probably damaging Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Wnt5a A G 14: 28,240,519 (GRCm39) N223S probably damaging Het
Other mutations in Cavin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Cavin1 APN 11 100,861,300 (GRCm39) start gained probably benign
R1879:Cavin1 UTSW 11 100,861,036 (GRCm39) missense probably damaging 0.99
R4668:Cavin1 UTSW 11 100,849,622 (GRCm39) missense probably damaging 1.00
R7226:Cavin1 UTSW 11 100,861,284 (GRCm39) missense probably benign 0.07
R7410:Cavin1 UTSW 11 100,849,670 (GRCm39) missense probably damaging 1.00
R7986:Cavin1 UTSW 11 100,861,102 (GRCm39) missense probably damaging 1.00
R8945:Cavin1 UTSW 11 100,849,659 (GRCm39) missense probably damaging 1.00
Z1088:Cavin1 UTSW 11 100,849,484 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07