Incidental Mutation 'R3441:Cav3'
ID 267377
Institutional Source Beutler Lab
Gene Symbol Cav3
Ensembl Gene ENSMUSG00000062694
Gene Name caveolin 3
Synonyms M-caveolin, Cav-3
MMRRC Submission 040659-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R3441 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 112436466-112449833 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 112449402 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 140 (C140Y)
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 possibly damaging
Transcript: ENSMUST00000075477
AA Change: C140Y

PolyPhen 2 Score 0.500 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000074922
Gene: ENSMUSG00000062694
AA Change: C140Y

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
Meta Mutation Damage Score 0.4275 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 97% (34/35)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,170,759 (GRCm39) probably benign Het
Ap5b1 A G 19: 5,620,011 (GRCm39) H477R probably benign Het
Asz1 A C 6: 18,108,405 (GRCm39) S68A probably benign Het
Atp4a G A 7: 30,419,650 (GRCm39) R671Q probably benign Het
Btnl6 T C 17: 34,727,292 (GRCm39) K413E probably benign Het
Cdh15 G A 8: 123,588,763 (GRCm39) R279Q probably damaging Het
Cfap91 T C 16: 38,154,168 (GRCm39) M126V probably benign Het
Clrn3 A C 7: 135,115,854 (GRCm39) Y165* probably null Het
Cp A T 3: 20,029,121 (GRCm39) M533L probably benign Het
Cyba C T 8: 123,151,803 (GRCm39) W103* probably null Het
Epha4 G T 1: 77,403,333 (GRCm39) N95K possibly damaging Het
Fsip2 A G 2: 82,817,071 (GRCm39) N4268S probably benign Het
Glb1l2 C T 9: 26,692,038 (GRCm39) A74T probably damaging Het
Gtf3c6 T A 10: 40,127,169 (GRCm39) E123V probably null Het
Htr3b T C 9: 48,856,815 (GRCm39) D221G probably benign Het
Hyal6 C T 6: 24,734,592 (GRCm39) A175V probably benign Het
Kif1a C T 1: 92,964,575 (GRCm39) D1334N possibly damaging Het
Krtap24-1 T C 16: 88,408,713 (GRCm39) T138A probably damaging Het
Mrc2 A T 11: 105,238,542 (GRCm39) T1230S possibly damaging Het
Mx1 T A 16: 97,257,431 (GRCm39) I109F probably damaging Het
Nav3 A G 10: 109,540,789 (GRCm39) F1947S probably benign Het
Or12e1 A G 2: 87,022,162 (GRCm39) I44V probably benign Het
Or6k2 A T 1: 173,986,746 (GRCm39) M136L probably benign Het
Plxnc1 G A 10: 94,706,872 (GRCm39) T555I probably benign Het
Rab21 CCCGCCGCCGCCGCCGCC CCCGCCGCCGCCGCC 10: 115,151,214 (GRCm39) probably benign Het
Rag2 T A 2: 101,460,645 (GRCm39) F318L probably damaging Het
Scgb2b24 G T 7: 33,438,025 (GRCm39) F27L probably damaging Het
Tchh A T 3: 93,352,414 (GRCm39) D618V unknown Het
Teddm1b A G 1: 153,751,007 (GRCm39) E272G probably benign Het
Tenm4 A T 7: 96,202,723 (GRCm39) M88L probably benign Het
Tfpi2 A T 6: 3,965,504 (GRCm39) Y103N probably benign Het
Tmem98 A G 11: 80,705,125 (GRCm39) N71S probably damaging Het
Vmn1r181 A G 7: 23,684,308 (GRCm39) I258V probably benign 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
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
R7770:Cav3 UTSW 6 112,449,147 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCGTCTCCAAGTACTGGTG -3'
(R):5'- CAAGTTTTCCCATCTTGAGGTGG -3'

Sequencing Primer
(F):5'- TCCAAGTACTGGTGCTACCG -3'
(R):5'- CCCATCTTGAGGTGGAATTGAGAG -3'
Posted On 2015-02-18