Incidental Mutation 'R7986:Cavin1'
ID 651496
Institutional Source Beutler Lab
Gene Symbol Cavin1
Ensembl Gene ENSMUSG00000004044
Gene Name caveolae associated 1
Synonyms 2310075E07Rik, Cavin, cavin-1, Ptrf
MMRRC Submission 046027-MU
Accession Numbers
Essential gene? Not available question?
Stock # R7986 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100847562-100861443 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100861102 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 64 (I64T)
Ref Sequence ENSEMBL: ENSMUSP00000058321 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060792]
AlphaFold O54724
Predicted Effect probably damaging
Transcript: ENSMUST00000060792
AA Change: I64T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058321
Gene: ENSMUSG00000004044
AA Change: I64T

DomainStartEndE-ValueType
Pfam:PTRF_SDPR 50 322 3.7e-102 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts1 G T 16: 85,596,435 (GRCm39) A401D probably damaging Het
Akap10 C T 11: 61,820,890 (GRCm39) G5R probably damaging Het
Arhgap21 A C 2: 20,867,967 (GRCm39) L1023W probably damaging Het
Bpifb4 A G 2: 153,799,650 (GRCm39) N339S probably benign Het
Btbd17 A G 11: 114,683,341 (GRCm39) Y124H probably damaging Het
Cacna1a C G 8: 85,365,408 (GRCm39) R2184G probably benign Het
Cby3 A G 11: 50,250,106 (GRCm39) H9R possibly damaging Het
Ccdc141 A G 2: 76,845,461 (GRCm39) L1202P probably benign Het
Cd109 A G 9: 78,596,048 (GRCm39) I794V possibly damaging Het
Col12a1 C T 9: 79,511,674 (GRCm39) probably null Het
Col6a2 A G 10: 76,450,972 (GRCm39) L23P probably benign Het
Csf1r A G 18: 61,247,904 (GRCm39) H324R probably benign Het
D430041D05Rik A G 2: 104,087,096 (GRCm39) S627P probably damaging Het
Dffb G A 4: 154,054,504 (GRCm39) S195F probably damaging Het
Fstl5 T A 3: 76,337,097 (GRCm39) Y219N probably damaging Het
Gm29106 A T 1: 118,128,000 (GRCm39) H564L possibly damaging Het
Gpt2 T A 8: 86,235,839 (GRCm39) C158* probably null Het
Grin1 G T 2: 25,185,841 (GRCm39) A872D probably damaging Het
Hoxa1 T C 6: 52,135,018 (GRCm39) S62G probably benign Het
Krt28 T C 11: 99,257,651 (GRCm39) N397D probably benign Het
Ldlrad4 G T 18: 68,368,740 (GRCm39) A66S possibly damaging Het
Llgl1 G T 11: 60,602,221 (GRCm39) A755S probably benign Het
Lmod2 A G 6: 24,603,448 (GRCm39) E141G possibly damaging Het
Loxhd1 A T 18: 77,462,890 (GRCm39) T910S possibly damaging Het
Masp2 A G 4: 148,687,283 (GRCm39) Y55C probably damaging Het
Nek10 A C 14: 15,001,020 (GRCm38) S1067R probably benign Het
Nemp2 C T 1: 52,669,981 (GRCm39) A22V probably benign Het
Npy2r T A 3: 82,448,803 (GRCm39) probably null Het
Nr1h4 A T 10: 89,290,634 (GRCm39) S469T possibly damaging Het
Nr4a3 T C 4: 48,055,954 (GRCm39) Y327H probably damaging Het
Or10ag52 A G 2: 87,043,922 (GRCm39) I229V probably benign Het
Or5an1b C T 19: 12,300,102 (GRCm39) V30I probably benign Het
Pramel26 A T 4: 143,538,590 (GRCm39) L127* probably null Het
Prss1l T C 6: 41,373,058 (GRCm39) I110T probably damaging Het
Ptpdc1 G A 13: 48,746,046 (GRCm39) A118V probably damaging Het
Raph1 T C 1: 60,535,445 (GRCm39) Y73C Het
Rtl1 A G 12: 109,558,492 (GRCm39) S1116P possibly damaging Het
Secisbp2 T C 13: 51,819,395 (GRCm39) I325T probably damaging Het
Setd5 T C 6: 113,105,418 (GRCm39) S817P probably benign Het
Sirt6 A G 10: 81,458,344 (GRCm39) L303P probably benign Het
Slc46a2 G T 4: 59,911,858 (GRCm39) F451L probably benign Het
Sorbs1 T A 19: 40,353,449 (GRCm39) I219F probably damaging Het
Tmem178 A G 17: 81,308,273 (GRCm39) I223V possibly damaging Het
Trps1 T G 15: 50,525,132 (GRCm39) T933P probably damaging Het
Trps1 A G 15: 50,753,019 (GRCm39) F16S probably benign Het
Virma T A 4: 11,540,023 (GRCm39) S1447R probably benign Het
Vmn1r230 T C 17: 21,067,119 (GRCm39) Y103H probably damaging Het
Wdfy4 G A 14: 32,826,072 (GRCm39) P1193L Het
Ybx3 T A 6: 131,356,362 (GRCm39) R170* probably null Het
Zfp423 T C 8: 88,506,978 (GRCm39) D1122G probably benign Het
Other mutations in Cavin1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01110:Cavin1 APN 11 100,861,300 (GRCm39) start gained probably benign
IGL01945:Cavin1 APN 11 100,861,246 (GRCm39) missense 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
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
Predicted Primers PCR Primer
(F):5'- AGTTTCTTTATCTGGCCGGC -3'
(R):5'- AAGCCATGGAGGATGTCACG -3'

Sequencing Primer
(F):5'- ACGGTCTTCACGTTGACG -3'
(R):5'- ATGGAGGATGTCACGCTCCATATC -3'
Posted On 2020-09-15