Incidental Mutation 'R7770:Cav3'
ID 598528
Institutional Source Beutler Lab
Gene Symbol Cav3
Ensembl Gene ENSMUSG00000062694
Gene Name caveolin 3
Synonyms M-caveolin, Cav-3
MMRRC Submission 045826-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.244) question?
Stock # R7770 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 112436466-112449833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 112449147 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 55 (D55V)
Ref Sequence ENSEMBL: ENSMUSP00000074922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053306] [ENSMUST00000075477] [ENSMUST00000204027]
AlphaFold P51637
Predicted Effect probably benign
Transcript: ENSMUST00000053306
SMART Domains Protein: ENSMUSP00000051132
Gene: ENSMUSG00000049112

DomainStartEndE-ValueType
Pfam:7tm_4 46 183 2.5e-8 PFAM
Pfam:7TM_GPCR_Srsx 50 339 1.4e-6 PFAM
Pfam:7tm_1 56 328 3.4e-46 PFAM
low complexity region 365 387 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000075477
AA Change: D55V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000074922
Gene: ENSMUSG00000062694
AA Change: D55V

DomainStartEndE-ValueType
Pfam:Caveolin 15 148 9.5e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204027
SMART Domains Protein: ENSMUSP00000145300
Gene: ENSMUSG00000049112

DomainStartEndE-ValueType
SCOP:d1l9ha_ 2 56 2e-6 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (55/56)
MGI Phenotype FUNCTION: This gene belongs to the caveolin family whose members encode the major protein components of caveolae, which are invaginations of plasma membrane. The encoded protein is muscle-specific and forms homooligomers in muscle cells. The protein binds and regulates phosphofructokinase M and neuronal nitric oxide synthase. It also associates with dystrophin in muscle cells. Mutations in this gene are associated with muscular dystrophy. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous targeted mutant animals display mild myopathic changes in muscle. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik A T 9: 57,165,894 (GRCm39) V160E probably damaging Het
Abhd8 C T 8: 71,910,894 (GRCm39) G305S probably benign Het
Adamts20 A G 15: 94,231,579 (GRCm39) V870A probably benign Het
Agl A G 3: 116,551,886 (GRCm39) probably null Het
Ccser2 T A 14: 36,648,831 (GRCm39) D556V probably damaging Het
Cdc20b T C 13: 113,215,193 (GRCm39) Y254H probably benign Het
Commd8 A G 5: 72,317,223 (GRCm39) L182S probably damaging Het
Cyp1b1 G A 17: 80,020,728 (GRCm39) A338V probably damaging Het
Def8 C A 8: 124,186,798 (GRCm39) D459E unknown Het
Dennd5b T C 6: 148,943,214 (GRCm39) Y554C probably damaging Het
Dnah7c A T 1: 46,665,460 (GRCm39) probably null Het
Dnajc5b T A 3: 19,633,181 (GRCm39) C135S probably benign Het
Dnpep G A 1: 75,293,890 (GRCm39) probably benign Het
Drc1 C T 5: 30,507,856 (GRCm39) Q293* probably null Het
Glmp A G 3: 88,233,077 (GRCm39) S72G probably benign Het
Gm5431 A T 11: 48,779,285 (GRCm39) S546T probably benign Het
Gnptab T A 10: 88,247,782 (GRCm39) C70S probably benign Het
Gpr83 G A 9: 14,778,170 (GRCm39) R180Q probably damaging Het
Gucy1a1 A T 3: 82,016,112 (GRCm39) L292Q possibly damaging Het
Gzmd T C 14: 56,368,720 (GRCm39) D58G probably damaging Het
Hoxa10 A G 6: 52,211,245 (GRCm39) S224P possibly damaging Het
Hoxa13 G A 6: 52,237,247 (GRCm39) probably benign Het
Igsf6 A G 7: 120,667,548 (GRCm39) V156A probably benign Het
Il6st A T 13: 112,639,338 (GRCm39) I649F probably damaging Het
Kcnh3 G A 15: 99,131,147 (GRCm39) V507M probably damaging Het
Lgr5 A G 10: 115,307,899 (GRCm39) I253T probably damaging Het
Met T A 6: 17,491,406 (GRCm39) V56D possibly damaging Het
Mettl22 A T 16: 8,303,764 (GRCm39) I277F possibly damaging Het
Nadsyn1 G A 7: 143,359,740 (GRCm39) R411W probably damaging Het
Nrros T G 16: 31,962,346 (GRCm39) E557A probably benign Het
Or10ak14 A T 4: 118,611,254 (GRCm39) H162Q probably benign Het
Or5w1 T C 2: 87,486,813 (GRCm39) I151V not run Het
Or8j3b C T 2: 86,205,604 (GRCm39) V51M possibly damaging Het
Pih1d2 G A 9: 50,533,101 (GRCm39) R243Q not run Het
Polr1b C A 2: 128,967,464 (GRCm39) F952L probably damaging Het
Ppp1r3a A G 6: 14,754,977 (GRCm39) V90A probably benign Het
Prmt9 T A 8: 78,285,814 (GRCm39) probably null Het
Rapgef4 T A 2: 72,028,739 (GRCm39) N385K possibly damaging Het
Rbm28 G A 6: 29,164,627 (GRCm39) probably benign Het
Rhobtb3 A T 13: 76,065,934 (GRCm39) S150T probably damaging Het
Serpinb6b T C 13: 33,161,512 (GRCm39) V195A probably benign Het
Sesn1 T A 10: 41,770,054 (GRCm39) I99N probably damaging Het
Setd1b G A 5: 123,296,815 (GRCm39) probably benign Het
Slc22a19 T A 19: 7,681,360 (GRCm39) probably null Het
Slc9a4 T C 1: 40,640,123 (GRCm39) I305T probably damaging Het
Smg6 T A 11: 74,884,687 (GRCm39) N3K unknown Het
Spta1 C A 1: 174,023,547 (GRCm39) Y651* probably null Het
Tatdn3 G A 1: 190,791,053 (GRCm39) P74S probably benign Het
Tet2 C T 3: 133,186,056 (GRCm39) R1127Q possibly damaging Het
Tgfbi T A 13: 56,780,657 (GRCm39) probably null Het
Tmprss9 A G 10: 80,733,903 (GRCm39) probably null Het
Tox4 T C 14: 52,517,299 (GRCm39) Y10H probably damaging Het
Trappc10 A T 10: 78,046,679 (GRCm39) S407T probably damaging Het
Vmn2r59 A G 7: 41,708,336 (GRCm39) C24R probably damaging Het
Wdr24 C A 17: 26,046,070 (GRCm39) A465D probably benign Het
Wfdc8 A G 2: 164,439,594 (GRCm39) S263P unknown Het
Zc3h15 T A 2: 83,488,476 (GRCm39) I138N possibly damaging Het
Other mutations in Cav3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01333:Cav3 APN 6 112,436,888 (GRCm39) critical splice donor site probably null
R1125:Cav3 UTSW 6 112,449,257 (GRCm39) missense probably damaging 1.00
R1649:Cav3 UTSW 6 112,449,207 (GRCm39) missense probably damaging 1.00
R2126:Cav3 UTSW 6 112,449,344 (GRCm39) missense probably benign 0.19
R3441:Cav3 UTSW 6 112,449,402 (GRCm39) missense possibly damaging 0.50
R3442:Cav3 UTSW 6 112,449,402 (GRCm39) missense possibly damaging 0.50
R3710:Cav3 UTSW 6 112,436,774 (GRCm39) start codon destroyed probably null 0.51
R5004:Cav3 UTSW 6 112,436,885 (GRCm39) missense probably damaging 0.99
R6950:Cav3 UTSW 6 112,449,171 (GRCm39) missense probably damaging 1.00
R7567:Cav3 UTSW 6 112,449,428 (GRCm39) missense probably benign 0.21
Predicted Primers PCR Primer
(F):5'- AGTCATCACCTTCGCTGAGG -3'
(R):5'- TCAGGTAGCTCTTAATGCAGGG -3'

Sequencing Primer
(F):5'- ATGCAGCATAGCCTTGGGATC -3'
(R):5'- GCACCACGGCCCAGATG -3'
Posted On 2019-11-26