Incidental Mutation 'R0113:Cav1'
ID 20577
Institutional Source Beutler Lab
Gene Symbol Cav1
Ensembl Gene ENSMUSG00000007655
Gene Name caveolin 1, caveolae protein
Synonyms Cav-1, caveolin-1
MMRRC Submission 038399-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.404) question?
Stock # R0113 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 17306387-17341323 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 17308048 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 67 (S67C)
Ref Sequence ENSEMBL: ENSMUSP00000135374 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000007799] [ENSMUST00000115453] [ENSMUST00000115454] [ENSMUST00000115455] [ENSMUST00000115456] [ENSMUST00000123439] [ENSMUST00000150901] [ENSMUST00000177234]
AlphaFold P49817
Predicted Effect probably benign
Transcript: ENSMUST00000007799
SMART Domains Protein: ENSMUSP00000007799
Gene: ENSMUSG00000007655

DomainStartEndE-ValueType
Pfam:Caveolin 27 177 4.1e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115453
SMART Domains Protein: ENSMUSP00000111113
Gene: ENSMUSG00000007655

DomainStartEndE-ValueType
Pfam:Caveolin 1 146 2e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115454
SMART Domains Protein: ENSMUSP00000111114
Gene: ENSMUSG00000007655

DomainStartEndE-ValueType
Pfam:Caveolin 1 146 2e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115455
SMART Domains Protein: ENSMUSP00000111115
Gene: ENSMUSG00000007655

DomainStartEndE-ValueType
Pfam:Caveolin 16 115 2.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115456
SMART Domains Protein: ENSMUSP00000111116
Gene: ENSMUSG00000007655

DomainStartEndE-ValueType
Pfam:Caveolin 42 175 1.1e-62 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123439
Predicted Effect possibly damaging
Transcript: ENSMUST00000150901
AA Change: S67C

PolyPhen 2 Score 0.598 (Sensitivity: 0.87; Specificity: 0.91)
Predicted Effect probably benign
Transcript: ENSMUST00000177234
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131334
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.1%
  • 10x: 95.2%
  • 20x: 87.5%
Validation Efficiency 99% (70/71)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3930402G23Rik A G 8: 10,976,126 (GRCm39) noncoding transcript Het
Abca13 A T 11: 9,242,114 (GRCm39) I1326F possibly damaging Het
Arnt2 G A 7: 83,996,738 (GRCm39) R63C probably damaging Het
Aspscr1 C G 11: 120,579,751 (GRCm39) Q97E probably damaging Het
Atad2 A G 15: 57,984,330 (GRCm39) probably benign Het
Atcay A T 10: 81,050,554 (GRCm39) probably null Het
Brme1 C T 8: 84,893,871 (GRCm39) T311I probably damaging Het
C4b T A 17: 34,960,214 (GRCm39) Y279F probably damaging Het
Ceacam23 G A 7: 17,642,873 (GRCm39) noncoding transcript Het
Celf2 A C 2: 6,629,525 (GRCm39) H113Q probably damaging Het
Cep170 A C 1: 176,586,021 (GRCm39) N590K probably damaging Het
Ces1f A T 8: 94,006,327 (GRCm39) M1K probably null Het
Chrna1 C A 2: 73,397,180 (GRCm39) D370Y possibly damaging Het
Csmd1 C A 8: 16,034,849 (GRCm39) G2441C probably damaging Het
D630003M21Rik C T 2: 158,038,495 (GRCm39) D984N possibly damaging Het
Dhrs1 T C 14: 55,977,396 (GRCm39) T241A probably benign Het
Edar A C 10: 58,465,271 (GRCm39) C31G probably damaging Het
Eps8 A G 6: 137,514,682 (GRCm39) S24P possibly damaging Het
Fam149a T C 8: 45,794,061 (GRCm39) E669G probably damaging Het
Fcrla A T 1: 170,749,868 (GRCm39) M1K probably null Het
G3bp1 T A 11: 55,386,252 (GRCm39) V237E probably benign Het
Galnt5 A G 2: 57,888,889 (GRCm39) E163G probably benign Het
Gpr87 T C 3: 59,086,932 (GRCm39) D192G possibly damaging Het
Ino80 G A 2: 119,213,441 (GRCm39) R1249C probably damaging Het
Ints1 T C 5: 139,750,968 (GRCm39) T810A Het
Kalrn A G 16: 33,870,306 (GRCm39) probably benign Het
Kcnk6 T C 7: 28,931,634 (GRCm39) D92G probably damaging Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mfsd6 A T 1: 52,748,348 (GRCm39) N172K probably damaging Het
Mtcl1 G T 17: 66,661,237 (GRCm39) Q1225K possibly damaging Het
Nav2 C T 7: 49,185,701 (GRCm39) T948M probably damaging Het
Nfic T C 10: 81,256,419 (GRCm39) K104E probably damaging Het
Nup58 G A 14: 60,488,740 (GRCm39) probably benign Het
Nwd2 A T 5: 63,965,241 (GRCm39) K1608N probably damaging Het
Or10n1 T A 9: 39,525,298 (GRCm39) I145K probably benign Het
Or1j21 G A 2: 36,684,006 (GRCm39) G253R probably damaging Het
Or1j21 G T 2: 36,684,007 (GRCm39) G253V probably damaging Het
Phf21b T C 15: 84,688,968 (GRCm39) D186G probably damaging Het
Poli C T 18: 70,661,829 (GRCm39) C57Y probably damaging Het
Ppp1r16a C T 15: 76,574,999 (GRCm39) probably benign Het
Psg23 T C 7: 18,345,927 (GRCm39) Y256C probably benign Het
Satb1 C A 17: 52,089,726 (GRCm39) E374* probably null Het
Scn4a C T 11: 106,236,262 (GRCm39) E333K probably benign Het
Sec14l2 C T 11: 4,053,661 (GRCm39) probably benign Het
Slain1 T C 14: 103,923,261 (GRCm39) probably benign Het
Snapc1 C T 12: 74,021,806 (GRCm39) R81C probably damaging Het
Syne2 T C 12: 75,977,352 (GRCm39) S1266P probably damaging Het
Syne2 A G 12: 76,080,496 (GRCm39) E4810G probably damaging Het
Tbck T C 3: 132,448,841 (GRCm39) I618T probably damaging Het
Tmem132d A T 5: 127,861,657 (GRCm39) N821K probably benign Het
Trim28 T A 7: 12,762,628 (GRCm39) V381E probably damaging Het
Ttc1 T C 11: 43,636,115 (GRCm39) S43G probably benign Het
Ube2u A G 4: 100,338,852 (GRCm39) E39G possibly damaging Het
Urb2 T C 8: 124,757,665 (GRCm39) V1124A probably benign Het
Usp13 A G 3: 32,872,025 (GRCm39) probably benign Het
Vmn1r216 A T 13: 23,283,631 (GRCm39) S105C probably damaging Het
Yipf2 T C 9: 21,501,412 (GRCm39) T23A probably damaging Het
Zfp521 G A 18: 13,978,148 (GRCm39) T755M probably damaging Het
Zfp619 T A 7: 39,187,183 (GRCm39) M1071K probably benign Het
Zfp942 A T 17: 22,148,066 (GRCm39) C188S probably benign 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
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
R7041:Cav1 UTSW 6 17,339,143 (GRCm39) missense possibly damaging 0.70
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'- ATCCGGGAACAGGGCAACATCTAC -3'
(R):5'- TGGACTTTTAACCTGCCAATGGACC -3'

Sequencing Primer
(F):5'- GGCAACATCTACAAGCCCAAC -3'
(R):5'- GCACTCGTGGCTAAGGTTC -3'
Posted On 2013-04-11