Incidental Mutation 'R5091:Cavin2'
ID387729
Institutional Source Beutler Lab
Gene Symbol Cavin2
Ensembl Gene ENSMUSG00000045954
Gene Namecaveolae associated 2
SynonymsSdpr, cavin 2
MMRRC Submission 042680-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.178) question?
Stock #R5091 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location51289126-51302960 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 51301239 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 358 (N358K)
Ref Sequence ENSEMBL: ENSMUSP00000055694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051572]
Predicted Effect probably benign
Transcript: ENSMUST00000051572
AA Change: N358K

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000055694
Gene: ENSMUSG00000045954
AA Change: N358K

DomainStartEndE-ValueType
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
Meta Mutation Damage Score 0.0667 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 96% (67/70)
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833439L19Rik A G 13: 54,553,244 S174P probably damaging Het
4931414P19Rik T C 14: 54,585,711 E343G probably damaging Het
9530053A07Rik A C 7: 28,156,958 I2057L probably benign Het
Abca14 T C 7: 120,252,274 V825A probably damaging Het
Abca8b G T 11: 109,936,384 T1466K possibly damaging Het
Adcy8 A G 15: 64,806,704 S467P probably damaging Het
Agbl4 T C 4: 111,119,040 V198A possibly damaging Het
Agpat4 A G 17: 12,198,812 K80R probably benign Het
Akap8 T C 17: 32,316,234 T269A probably benign Het
Ankhd1 A T 18: 36,625,027 I925F possibly damaging Het
Aste1 A G 9: 105,405,004 Y57C probably damaging Het
Axdnd1 A G 1: 156,420,410 S7P possibly damaging Het
BC051019 T A 7: 109,720,582 R91S probably null Het
Cd2 T C 3: 101,283,039 N196S probably benign Het
Clca3a1 C T 3: 144,730,722 V867I probably benign Het
Col6a4 T A 9: 106,075,063 K545N probably damaging Het
Cps1 T A 1: 67,229,520 probably null Het
Cyp2c65 A T 19: 39,087,565 probably null Het
Dcaf6 T C 1: 165,330,003 D856G possibly damaging Het
E130309D02Rik C T 5: 143,307,688 E345K possibly damaging Het
Epcam T C 17: 87,642,152 I181T probably damaging Het
Esrp2 A G 8: 106,132,429 S562P probably damaging Het
Ffar4 A G 19: 38,097,179 D18G probably benign Het
Gen1 C T 12: 11,246,346 V337I probably damaging Het
Gimap8 C T 6: 48,656,647 P467S possibly damaging Het
Gnl3 T A 14: 31,016,846 H82L possibly damaging Het
Grid2 T C 6: 64,076,878 S354P probably benign Het
Ighmbp2 T A 19: 3,265,084 T779S possibly damaging Het
Kif19a C A 11: 114,783,097 T348N probably damaging Het
Lrrc15 T A 16: 30,273,354 N389I probably damaging Het
Mrps26 A G 2: 130,563,966 Y63C probably damaging Het
Myd88 C A 9: 119,337,823 V223F possibly damaging Het
Nox4 T A 7: 87,376,242 W526R probably damaging Het
Nrg2 A T 18: 36,052,785 N300K probably damaging Het
Nsmf T C 2: 25,060,452 probably benign Het
Patl2 A C 2: 122,123,802 H429Q probably benign Het
Pcdhb12 A T 18: 37,435,854 K18* probably null Het
Peg10 T A 6: 4,754,511 D97E probably benign Het
Runx1t1 C T 4: 13,846,830 Q205* probably null Het
Selenon T C 4: 134,547,973 K138R probably damaging Het
Slc13a3 T C 2: 165,420,080 E369G probably benign Het
Sorcs1 A G 19: 50,259,752 probably null Het
Sptbn4 A T 7: 27,369,391 M499K probably damaging Het
Sra1 A T 18: 36,669,959 probably benign Het
Stra6 T C 9: 58,141,146 L174P probably damaging Het
Syngr1 T C 15: 80,115,885 Y66H probably damaging Het
Synpo G T 18: 60,602,759 S466* probably null Het
Tenm3 T A 8: 48,342,308 M595L probably benign Het
Tnks T C 8: 34,841,809 T1099A probably benign Het
Tram1l1 G T 3: 124,321,751 V187F possibly damaging Het
Trappc11 T C 8: 47,512,604 E529G probably benign Het
Usp17la T C 7: 104,860,932 V248A probably damaging Het
Virma T C 4: 11,519,392 Y880H probably benign Het
Vmn1r214 C T 13: 23,035,401 T355I possibly damaging Het
Vmn2r7 T C 3: 64,690,784 K784R possibly damaging Het
Wrap53 C T 11: 69,562,447 W389* probably null Het
Zfp748 A G 13: 67,541,519 S541P probably damaging 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
R3038:Cavin2 UTSW 1 51301257 missense possibly damaging 0.95
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
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
(F):5'- AAGCATCTTCTGGGAAAAGCTCC -3'
(R):5'- TGATCCACATGCAGCACAGC -3'

Sequencing Primer
(F):5'- GAAAAGCTCCCCCTTCAAGGTTTC -3'
(R):5'- CAGCTGGCTGGACCTGTTTC -3'
Posted On2016-06-06