Incidental Mutation 'R7041:Cav1'
ID 547049
Institutional Source Beutler Lab
Gene Symbol Cav1
Ensembl Gene ENSMUSG00000007655
Gene Name caveolin 1, caveolae protein
Synonyms Cav-1, caveolin-1
MMRRC Submission 045140-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.489) question?
Stock # R7041 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 17306387-17341323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17339143 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
Ref Sequence ENSEMBL: ENSMUSP00000120252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007799] [ENSMUST00000115453] [ENSMUST00000115454] [ENSMUST00000115455] [ENSMUST00000115456] [ENSMUST00000123439] [ENSMUST00000177234]
AlphaFold P49817
Predicted Effect possibly damaging
Transcript: ENSMUST00000007799
AA Change: E76G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000007799
Gene: ENSMUSG00000007655
AA Change: E76G

DomainStartEndE-ValueType
Pfam:Caveolin 27 177 4.1e-69 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115453
AA Change: E45G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111113
Gene: ENSMUSG00000007655
AA Change: E45G

DomainStartEndE-ValueType
Pfam:Caveolin 1 146 2e-69 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115454
AA Change: E45G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111114
Gene: ENSMUSG00000007655
AA Change: E45G

DomainStartEndE-ValueType
Pfam:Caveolin 1 146 2e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115455
AA Change: E65G

PolyPhen 2 Score 0.192 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000111115
Gene: ENSMUSG00000007655
AA Change: E65G

DomainStartEndE-ValueType
Pfam:Caveolin 16 115 2.4e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115456
AA Change: E76G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000111116
Gene: ENSMUSG00000007655
AA Change: E76G

DomainStartEndE-ValueType
Pfam:Caveolin 42 175 1.1e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000123439
AA Change: E45G

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000177234
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (53/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous targeted mutants displayed vascular system dysfunctions and thickening of lung aveloar septa from hyperproliferation and fibrosis, ultimately causing the mice physical limitations. Mice also display increased incidence of calcium calculi, kidney stones, and decreased adiposity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan G T 7: 78,748,096 (GRCm39) E956* probably null Het
Adam25 A T 8: 41,207,121 (GRCm39) H129L probably benign Het
Adgrl4 A T 3: 151,144,959 (GRCm39) H36L probably benign Het
Ago1 T A 4: 126,357,499 (GRCm39) I59F possibly damaging Het
Anapc1 A T 2: 128,470,576 (GRCm39) V1518E possibly damaging Het
Atxn1 A G 13: 45,720,311 (GRCm39) I528T probably damaging Het
B4galnt4 A G 7: 140,650,593 (GRCm39) H820R probably damaging Het
Cacna1h T C 17: 25,612,977 (GRCm39) E282G probably damaging Het
Camk1 T A 6: 113,316,475 (GRCm39) M95L probably benign Het
Capn7 C T 14: 31,058,642 (GRCm39) probably benign Het
Ccdc183 T G 2: 25,503,682 (GRCm39) E185A probably benign Het
Ccl2 T A 11: 81,926,489 (GRCm39) M1K probably null Het
Cep97 T A 16: 55,726,117 (GRCm39) H590L probably benign Het
Dsg1c A T 18: 20,399,201 (GRCm39) I102F probably damaging Het
Fcho2 A G 13: 98,921,334 (GRCm39) Y184H possibly damaging Het
Gart C T 16: 91,440,031 (GRCm39) probably benign Het
Gask1a A T 9: 121,794,467 (GRCm39) Q207L probably damaging Het
Golga3 G A 5: 110,356,450 (GRCm39) probably null Het
Hint3 G T 10: 30,486,380 (GRCm39) A133E probably damaging Het
Hspe1 T C 1: 55,128,376 (GRCm39) probably null Het
Insr A T 8: 3,308,418 (GRCm39) V206E probably benign Het
Insrr T C 3: 87,722,551 (GRCm39) S1258P probably damaging Het
Itga11 C T 9: 62,659,538 (GRCm39) T430M probably damaging Het
Jmjd1c G A 10: 67,056,388 (GRCm39) V890I possibly damaging Het
Kdm4b T A 17: 56,703,592 (GRCm39) S717R probably damaging Het
Large1 A T 8: 73,843,092 (GRCm39) C144S probably damaging Het
Lrat G T 3: 82,810,755 (GRCm39) Q89K probably benign Het
Lrrc66 A T 5: 73,765,899 (GRCm39) F381L possibly damaging Het
Myo15a A G 11: 60,396,832 (GRCm39) T2634A probably damaging Het
Nup205 T G 6: 35,201,470 (GRCm39) I1182M possibly damaging Het
Or2a51 T A 6: 43,178,837 (GRCm39) D86E probably benign Het
Or5m10 A T 2: 85,717,965 (GRCm39) I274F probably benign Het
Or6c66 T A 10: 129,461,603 (GRCm39) E109V probably damaging Het
Plekha6 T A 1: 133,200,198 (GRCm39) V259D possibly damaging Het
Prdm9 C A 17: 15,765,257 (GRCm39) A508S possibly damaging Het
Prickle2 A G 6: 92,353,286 (GRCm39) F783L probably benign Het
Ptprc T C 1: 138,054,047 (GRCm39) S31G probably benign Het
Rbak A T 5: 143,159,226 (GRCm39) I609N probably damaging Het
Rimklb A T 6: 122,436,176 (GRCm39) L134* probably null Het
Ripor2 A G 13: 24,877,749 (GRCm39) I250V probably benign Het
Sorbs1 G C 19: 40,365,244 (GRCm39) R180G probably benign Het
Spaca6 C T 17: 18,056,358 (GRCm39) L118F probably benign Het
Tmem167 G A 13: 90,246,533 (GRCm39) C19Y probably benign Het
Togaram1 C T 12: 65,067,160 (GRCm39) T1684I possibly damaging Het
Trappc8 T C 18: 21,007,729 (GRCm39) T129A probably benign Het
Ubash3a A G 17: 31,447,184 (GRCm39) S347G probably benign Het
Unc80 T C 1: 66,542,752 (GRCm39) S289P probably benign Het
Vmn2r11 A G 5: 109,202,816 (GRCm39) I87T probably damaging Het
Vmn2r54 A T 7: 12,363,751 (GRCm39) F381I probably damaging Het
Wdsub1 A G 2: 59,683,224 (GRCm39) L450P probably damaging Het
Xylt2 A G 11: 94,558,408 (GRCm39) probably null Het
Zfp429 A T 13: 67,538,830 (GRCm39) C205S probably damaging Het
Zfp60 T C 7: 27,448,451 (GRCm39) I373T probably benign Het
Zfp738 A G 13: 67,818,420 (GRCm39) S524P probably damaging Het
Other mutations in Cav1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02159:Cav1 APN 6 17,307,971 (GRCm39) missense possibly damaging 0.93
shortstop UTSW 6 17,308,034 (GRCm39) missense probably damaging 0.99
R0113:Cav1 UTSW 6 17,308,048 (GRCm39) missense possibly damaging 0.60
R0149:Cav1 UTSW 6 17,339,352 (GRCm39) missense possibly damaging 0.46
R0361:Cav1 UTSW 6 17,339,352 (GRCm39) missense possibly damaging 0.46
R1706:Cav1 UTSW 6 17,339,181 (GRCm39) missense probably damaging 0.96
R1930:Cav1 UTSW 6 17,339,331 (GRCm39) missense probably damaging 1.00
R1931:Cav1 UTSW 6 17,339,331 (GRCm39) missense probably damaging 1.00
R2166:Cav1 UTSW 6 17,339,430 (GRCm39) missense possibly damaging 0.69
R2655:Cav1 UTSW 6 17,339,359 (GRCm39) missense probably damaging 1.00
R4416:Cav1 UTSW 6 17,339,248 (GRCm39) missense probably benign 0.36
R4460:Cav1 UTSW 6 17,306,471 (GRCm39) missense probably damaging 0.99
R5204:Cav1 UTSW 6 17,339,254 (GRCm39) missense probably damaging 1.00
R5956:Cav1 UTSW 6 17,307,918 (GRCm39) missense probably damaging 1.00
R6467:Cav1 UTSW 6 17,308,034 (GRCm39) missense probably damaging 0.99
R8370:Cav1 UTSW 6 17,339,293 (GRCm39) missense possibly damaging 0.88
R8957:Cav1 UTSW 6 17,339,235 (GRCm39) missense probably benign 0.01
R9614:Cav1 UTSW 6 17,339,403 (GRCm39) missense probably benign
X0026:Cav1 UTSW 6 17,339,161 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATATATTCATGTTCCCAGTGAGG -3'
(R):5'- CGGCTGATGCACTGAATCTC -3'

Sequencing Primer
(F):5'- ATTCATGTTCCCAGTGAGGTCCAAG -3'
(R):5'- AAGCTCTTGATGCACGGTAC -3'
Posted On 2019-05-13