Incidental Mutation 'R3038:Cavin2'
Institutional Source Beutler Lab
Gene Symbol Cavin2
Ensembl Gene ENSMUSG00000045954
Gene Namecaveolae associated 2
SynonymsSdpr, cavin 2
MMRRC Submission 040554-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.256) question?
Stock #R3038 (G1)
Quality Score225
Status Not validated
Chromosomal Location51289126-51302960 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 51301257 bp
Amino Acid Change Asparagine to Lysine at position 364 (N364K)
Ref Sequence ENSEMBL: ENSMUSP00000055694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051572]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051572
AA Change: N364K

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000055694
Gene: ENSMUSG00000045954
AA Change: N364K

low complexity region 23 37 N/A INTRINSIC
Pfam:PTRF_SDPR 52 294 3.8e-96 PFAM
low complexity region 370 376 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189867
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal caveolae formation in lung and adipose endothelia and adipocytes with gaps in the lung capillaries. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bspry A G 4: 62,496,983 I468V probably benign Het
Ces1f T A 8: 93,256,598 N506I probably damaging Het
Dnhd1 A T 7: 105,720,229 Q4353L probably damaging Het
Dsc3 T C 18: 19,991,560 T36A possibly damaging Het
Hydin A G 8: 110,582,689 T4038A probably damaging Het
Kcnd3 C T 3: 105,658,766 A421V probably damaging Het
Kif1b T C 4: 149,213,333 I1083V probably benign Het
Lmo2 T C 2: 103,981,062 Y147H probably damaging Het
Mrgpra1 G A 7: 47,334,996 Q312* probably null Het
Pcdha1 T A 18: 36,931,011 F243I probably damaging Het
Ppp1r18 T C 17: 35,868,382 L383P probably damaging Het
Tmed9 A G 13: 55,596,979 K207E probably damaging Het
Tnfrsf19 A G 14: 60,972,063 S253P probably benign Het
Tspear T A 10: 77,886,439 Y624* probably null Het
Vmn2r16 G A 5: 109,339,333 C140Y probably damaging Het
Vwa7 T C 17: 35,022,661 V424A probably damaging Het
Zgpat TGGAGGAGGAGGAGGAGGA TGGAGGAGGAGGAGGA 2: 181,366,018 probably benign Het
Other mutations in Cavin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Cavin2 APN 1 51300877 missense probably damaging 1.00
IGL01951:Cavin2 APN 1 51289411 missense possibly damaging 0.82
R1649:Cavin2 UTSW 1 51300780 missense probably benign 0.09
R1676:Cavin2 UTSW 1 51301171 missense probably benign 0.05
R1966:Cavin2 UTSW 1 51289642 missense probably damaging 1.00
R3440:Cavin2 UTSW 1 51301406 missense probably damaging 1.00
R4128:Cavin2 UTSW 1 51301422 makesense probably null
R4524:Cavin2 UTSW 1 51301070 missense probably benign 0.25
R4660:Cavin2 UTSW 1 51301351 missense probably benign 0.00
R4662:Cavin2 UTSW 1 51301351 missense probably benign 0.00
R5091:Cavin2 UTSW 1 51301239 missense probably benign 0.01
R5296:Cavin2 UTSW 1 51289870 critical splice donor site probably null
R5844:Cavin2 UTSW 1 51289839 missense probably damaging 1.00
R6141:Cavin2 UTSW 1 51300938 missense probably damaging 1.00
R6177:Cavin2 UTSW 1 51289495 missense probably damaging 1.00
R6252:Cavin2 UTSW 1 51289669 missense probably benign 0.30
R7128:Cavin2 UTSW 1 51289420 missense possibly damaging 0.57
R7583:Cavin2 UTSW 1 51289618 missense possibly damaging 0.93
R8051:Cavin2 UTSW 1 51301124 missense probably benign
X0028:Cavin2 UTSW 1 51301102 missense probably benign 0.07
Z1176:Cavin2 UTSW 1 51301156 missense probably damaging 0.96
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-02-05