Incidental Mutation 'IGL02944:Cav2'
ID364642
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cav2
Ensembl Gene ENSMUSG00000000058
Gene Namecaveolin 2
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.252) question?
Stock #IGL02944
Quality Score
Status
Chromosome6
Chromosomal Location17281185-17289115 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 17281457 bp
ZygosityHeterozygous
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]
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: 75,608,657 Q343R probably benign Het
Antxr1 T A 6: 87,188,159 N432I possibly damaging Het
Arhgap15 T C 2: 44,142,350 probably null Het
Atp6v1h T A 1: 5,093,355 probably benign Het
Ccdc175 T A 12: 72,117,893 D585V probably benign Het
Coro7 T C 16: 4,635,412 D271G probably benign Het
Cylc1 T A X: 111,123,604 D551E possibly damaging Het
Dnah1 A T 14: 31,300,871 I1103N possibly damaging Het
Gm44 A G X: 90,892,262 K41E probably benign Het
Gmds T A 13: 32,338,452 Y11F probably benign Het
Igkv13-54-1 C T 6: 69,617,390 noncoding transcript Het
Irf8 A G 8: 120,755,125 T318A probably benign Het
Lrrc40 G A 3: 158,041,665 probably benign Het
Mbd1 G A 18: 74,277,410 G428E probably damaging Het
Myom2 A T 8: 15,104,065 probably null Het
Nav2 C T 7: 49,420,256 R287W probably damaging Het
Nfs1 C T 2: 156,127,768 D320N probably damaging Het
Nlrp9a A T 7: 26,558,651 T565S probably benign Het
Nod1 A T 6: 54,924,947 I951N possibly damaging Het
Olfr353 T G 2: 36,890,788 E20A possibly damaging Het
Olfr675 A G 7: 105,024,923 L19P probably damaging Het
Olfr694 A G 7: 106,689,269 L154P probably damaging Het
Olfr924 A T 9: 38,848,752 I213F possibly damaging Het
Pkhd1l1 T C 15: 44,501,531 Y689H probably damaging Het
Ppp2r5c A G 12: 110,567,800 I366V probably benign Het
Ppp3cb T C 14: 20,528,235 Y149C probably damaging Het
Prdm1 T C 10: 44,441,811 S354G probably benign Het
Ralgapa1 T A 12: 55,757,951 Q520L probably benign Het
Slc25a54 A T 3: 109,080,615 Y24F probably benign Het
Slfn3 T A 11: 83,213,011 V236E probably damaging Het
Syt6 A G 3: 103,575,549 probably benign Het
Trim30a G T 7: 104,435,777 N75K probably benign Het
Vmn1r175 T C 7: 23,809,166 E12G probably damaging Het
Xylt1 A T 7: 117,634,757 T504S probably benign Het
Other mutations in Cav2
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1689:Cav2 UTSW 6 17281422 missense probably benign 0.00
R3859:Cav2 UTSW 6 17281463 missense probably damaging 1.00
R4657:Cav2 UTSW 6 17281410 missense probably null 1.00
R5187:Cav2 UTSW 6 17286936 missense possibly damaging 0.81
R5359:Cav2 UTSW 6 17287065 unclassified probably benign
R5510:Cav2 UTSW 6 17287013 missense possibly damaging 0.83
R6176:Cav2 UTSW 6 17286919 missense possibly damaging 0.90
R6747:Cav2 UTSW 6 17286951 missense probably damaging 0.97
R6939:Cav2 UTSW 6 17281411 missense possibly damaging 0.66
Posted On2015-12-18