Incidental Mutation 'IGL02944:Cav2'
ID 364642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cav2
Ensembl Gene ENSMUSG00000000058
Gene Name caveolin 2
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02944
Quality Score
Status
Chromosome 6
Chromosomal Location 17281184-17289114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 17281456 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 33 (Y33H)
Ref Sequence ENSEMBL: ENSMUSP00000111122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000058] [ENSMUST00000115459] [ENSMUST00000115462]
AlphaFold Q9WVC3
Predicted Effect probably benign
Transcript: ENSMUST00000000058
AA Change: Y33H

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000000058
Gene: ENSMUSG00000000058
AA Change: Y33H

DomainStartEndE-ValueType
Pfam:Caveolin 17 160 7.9e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115459
AA Change: Y33H

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000111119
Gene: ENSMUSG00000000058
AA Change: Y33H

DomainStartEndE-ValueType
Pfam:Caveolin 15 113 6.6e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115462
AA Change: Y33H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131334
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap13 A G 7: 75,258,405 (GRCm39) Q343R probably benign Het
Antxr1 T A 6: 87,165,141 (GRCm39) N432I possibly damaging Het
Arhgap15 T C 2: 44,032,362 (GRCm39) probably null Het
Atp6v1h T A 1: 5,163,578 (GRCm39) probably benign Het
Ccdc175 T A 12: 72,164,667 (GRCm39) D585V probably benign Het
Coro7 T C 16: 4,453,276 (GRCm39) D271G probably benign Het
Cylc1 T A X: 110,167,373 (GRCm39) D551E possibly damaging Het
Dnah1 A T 14: 31,022,828 (GRCm39) I1103N possibly damaging Het
Gmds T A 13: 32,522,435 (GRCm39) Y11F probably benign Het
Igkv13-54-1 C T 6: 69,594,374 (GRCm39) noncoding transcript Het
Irf8 A G 8: 121,481,864 (GRCm39) T318A probably benign Het
Lrrc40 G A 3: 157,747,302 (GRCm39) probably benign Het
Mageb11 A G X: 89,935,868 (GRCm39) K41E probably benign Het
Mbd1 G A 18: 74,410,481 (GRCm39) G428E probably damaging Het
Myom2 A T 8: 15,154,065 (GRCm39) probably null Het
Nav2 C T 7: 49,070,004 (GRCm39) R287W probably damaging Het
Nfs1 C T 2: 155,969,688 (GRCm39) D320N probably damaging Het
Nlrp9a A T 7: 26,258,076 (GRCm39) T565S probably benign Het
Nod1 A T 6: 54,901,932 (GRCm39) I951N possibly damaging Het
Or1n1b T G 2: 36,780,800 (GRCm39) E20A possibly damaging Het
Or2ag1b A G 7: 106,288,476 (GRCm39) L154P probably damaging Het
Or52e8b A G 7: 104,674,130 (GRCm39) L19P probably damaging Het
Or8d2 A T 9: 38,760,048 (GRCm39) I213F possibly damaging Het
Pkhd1l1 T C 15: 44,364,927 (GRCm39) Y689H probably damaging Het
Ppp2r5c A G 12: 110,534,234 (GRCm39) I366V probably benign Het
Ppp3cb T C 14: 20,578,303 (GRCm39) Y149C probably damaging Het
Prdm1 T C 10: 44,317,807 (GRCm39) S354G probably benign Het
Ralgapa1 T A 12: 55,804,736 (GRCm39) Q520L probably benign Het
Slc25a54 A T 3: 108,987,931 (GRCm39) Y24F probably benign Het
Slfn3 T A 11: 83,103,837 (GRCm39) V236E probably damaging Het
Syt6 A G 3: 103,482,865 (GRCm39) probably benign Het
Trim30a G T 7: 104,084,984 (GRCm39) N75K probably benign Het
Vmn1r175 T C 7: 23,508,591 (GRCm39) E12G probably damaging Het
Xylt1 A T 7: 117,233,984 (GRCm39) T504S probably benign Het
Other mutations in Cav2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R5359:Cav2 UTSW 6 17,287,064 (GRCm39) unclassified probably benign
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
Posted On 2015-12-18