Incidental Mutation 'R5359:Cav2'
ID 424233
Institutional Source Beutler Lab
Gene Symbol Cav2
Ensembl Gene ENSMUSG00000000058
Gene Name caveolin 2
Synonyms
MMRRC Submission 042938-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5359 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 17281184-17289114 bp(+) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 17287064 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000111119 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000058] [ENSMUST00000115459] [ENSMUST00000115462]
AlphaFold Q9WVC3
Predicted Effect probably benign
Transcript: ENSMUST00000000058
SMART Domains Protein: ENSMUSP00000000058
Gene: ENSMUSG00000000058

DomainStartEndE-ValueType
Pfam:Caveolin 17 160 7.9e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115459
SMART Domains Protein: ENSMUSP00000111119
Gene: ENSMUSG00000000058

DomainStartEndE-ValueType
Pfam:Caveolin 15 113 6.6e-46 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000115462
AA Change: R107W
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131334
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.1%
Validation Efficiency
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. This gene is located adjacent to caveolin-1 and the proteins coexpressed by the two genes localize together in caveolae, where they form hetero-oligomers. The encoded protein may be involved in diverse cellular functions including proliferation, differentiation, endocytosis and trafficking. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a null allele show lung parenchyma hypercellularity, alveolar constriction and septal thickening, impaired exercise endurance, and skeletal muscle defects. Mice homozygous for a different null allele show reduced tumor vascularization and growth of subcutaneously implanted tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap5b1 T A 19: 5,619,126 (GRCm39) I182N possibly damaging Het
Arap2 A T 5: 62,840,762 (GRCm39) C701* probably null Het
Bcr T A 10: 75,001,917 (GRCm39) F940L probably damaging Het
Cdk2 T C 10: 128,539,857 (GRCm39) probably benign Het
Clic4 G A 4: 134,944,446 (GRCm39) A243V probably benign Het
Dap3 A T 3: 88,838,296 (GRCm39) V99D probably damaging Het
Dennd5a T C 7: 109,497,169 (GRCm39) E1110G probably damaging Het
Dhx30 T C 9: 109,922,203 (GRCm39) N160D probably damaging Het
Dnai7 T G 6: 145,142,618 (GRCm39) T120P probably damaging Het
Dock9 A G 14: 121,890,472 (GRCm39) M268T possibly damaging Het
Dspp T A 5: 104,323,752 (GRCm39) D298E probably damaging Het
Elane A G 10: 79,722,870 (GRCm39) E92G probably damaging Het
Erp44 A T 4: 48,211,704 (GRCm39) D197E probably benign Het
Fkbpl G A 17: 34,864,303 (GRCm39) A24T probably benign Het
Gbf1 T C 19: 46,272,164 (GRCm39) probably null Het
Gm1968 A T 16: 29,777,617 (GRCm39) noncoding transcript Het
Hydin T A 8: 111,265,004 (GRCm39) V2729E probably benign Het
Insyn2b G A 11: 34,352,788 (GRCm39) E277K probably damaging Het
Iqgap1 T C 7: 80,416,707 (GRCm39) T106A probably benign Het
Kcnj6 G C 16: 94,633,312 (GRCm39) Y248* probably null Het
Mllt3 A G 4: 87,759,164 (GRCm39) S295P probably benign Het
Or2w1b A C 13: 21,300,437 (GRCm39) T192P probably damaging Het
Pex11b G A 3: 96,551,229 (GRCm39) C224Y probably damaging Het
Pik3c2g A G 6: 139,599,121 (GRCm39) Y79C probably damaging Het
Plcz1 T C 6: 139,974,178 (GRCm39) Y88C probably damaging Het
Pole A G 5: 110,480,354 (GRCm39) N99S probably benign Het
Pyroxd1 T G 6: 142,307,717 (GRCm39) Y496D probably damaging Het
Rasef A G 4: 73,689,565 (GRCm39) L68P probably damaging Het
Rgs13 T A 1: 144,015,322 (GRCm39) M132L probably damaging Het
RP24-187P11.4 T G 9: 109,349,944 (GRCm39) noncoding transcript Het
Rsph4a A G 10: 33,784,232 (GRCm39) T285A probably benign Het
Ryr3 A T 2: 112,606,186 (GRCm39) probably null Het
Slc30a1 T A 1: 191,641,865 (GRCm39) *504R probably null Het
Spcs1 T C 14: 30,722,074 (GRCm39) R156G probably damaging Het
Supv3l1 A G 10: 62,268,178 (GRCm39) F556L probably damaging Het
Thumpd2 C T 17: 81,334,206 (GRCm39) V461M probably benign Het
Timm50 A G 7: 28,007,592 (GRCm39) L158P probably damaging Het
Tnrc6c T C 11: 117,649,731 (GRCm39) silent Het
Ttn G A 2: 76,726,147 (GRCm39) Q1807* probably null Het
Zdhhc14 A G 17: 5,543,821 (GRCm39) I34V probably benign Het
Zgrf1 T A 3: 127,394,814 (GRCm39) M506K possibly damaging Het
Other mutations in Cav2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02944:Cav2 APN 6 17,281,456 (GRCm39) missense probably damaging 0.99
grotto UTSW 6 17,281,996 (GRCm39) missense probably damaging 1.00
R1689:Cav2 UTSW 6 17,281,421 (GRCm39) missense probably benign 0.00
R3859:Cav2 UTSW 6 17,281,462 (GRCm39) missense probably damaging 1.00
R4657:Cav2 UTSW 6 17,281,409 (GRCm39) missense probably null 1.00
R5187:Cav2 UTSW 6 17,286,935 (GRCm39) missense possibly damaging 0.81
R5510:Cav2 UTSW 6 17,287,012 (GRCm39) missense possibly damaging 0.83
R6176:Cav2 UTSW 6 17,286,918 (GRCm39) missense possibly damaging 0.90
R6747:Cav2 UTSW 6 17,286,950 (GRCm39) missense probably damaging 0.97
R6939:Cav2 UTSW 6 17,281,410 (GRCm39) missense possibly damaging 0.66
R7378:Cav2 UTSW 6 17,282,059 (GRCm39) missense probably benign 0.00
R7452:Cav2 UTSW 6 17,282,075 (GRCm39) missense probably damaging 1.00
R7569:Cav2 UTSW 6 17,282,078 (GRCm39) missense probably damaging 1.00
R8123:Cav2 UTSW 6 17,286,992 (GRCm39) nonsense probably null
R8789:Cav2 UTSW 6 17,281,996 (GRCm39) missense probably damaging 1.00
Z1176:Cav2 UTSW 6 17,281,432 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- CAGGATCCTGATGCCTTTTGTG -3'
(R):5'- TGACCATTATCAAGTCATCACTGC -3'

Sequencing Primer
(F):5'- GAAGACCTGCCTAATGGTCTTGC -3'
(R):5'- ACATTGGGTGTTGCCAATTC -3'
Posted On 2016-08-04