Incidental Mutation 'R6177:Cavin2'
ID 487798
Institutional Source Beutler Lab
Gene Symbol Cavin2
Ensembl Gene ENSMUSG00000045954
Gene Name caveolae associated 2
Synonyms cavin 2, Sdpr
MMRRC Submission 044319-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R6177 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 51328285-51342119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 51328654 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Isoleucine at position 37 (S37I)
Ref Sequence ENSEMBL: ENSMUSP00000055694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051572]
AlphaFold Q63918
Predicted Effect probably damaging
Transcript: ENSMUST00000051572
AA Change: S37I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055694
Gene: ENSMUSG00000045954
AA Change: S37I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.7%
Validation Efficiency 100% (65/65)
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd2 T C 15: 91,074,896 (GRCm39) I306V probably damaging Het
Actrt3 A T 3: 30,652,316 (GRCm39) Y259* probably null Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Ano1 T A 7: 144,232,478 (GRCm39) M25L possibly damaging Het
Apol10b A T 15: 77,469,987 (GRCm39) D63E possibly damaging Het
Atp6v1c1 C A 15: 38,674,172 (GRCm39) S55* probably null Het
C1s2 T G 6: 124,606,960 (GRCm39) D296A probably damaging Het
Cabs1 C T 5: 88,127,613 (GRCm39) T88I possibly damaging Het
Cadm4 G A 7: 24,202,186 (GRCm39) V342M possibly damaging Het
Cat T C 2: 103,303,420 (GRCm39) E119G probably damaging Het
Cdhr18 T C 14: 13,868,002 (GRCm38) D229G probably benign Het
Cdk5rap2 G A 4: 70,199,719 (GRCm39) R802C probably damaging Het
Clip1 A G 5: 123,751,897 (GRCm39) probably benign Het
Dhx57 T C 17: 80,580,395 (GRCm39) N519S possibly damaging Het
Dpep2 T C 8: 106,712,831 (GRCm39) D260G probably damaging Het
Edem1 T A 6: 108,828,159 (GRCm39) probably null Het
Epb41l4a A T 18: 33,931,868 (GRCm39) probably null Het
Esp1 T C 17: 41,039,723 (GRCm39) S3P possibly damaging Het
Fam111a A G 19: 12,564,746 (GRCm39) Y165C probably damaging Het
Fstl4 A G 11: 53,059,031 (GRCm39) T497A probably benign Het
Gstcd T C 3: 132,787,834 (GRCm39) D288G probably damaging Het
Hmcn2 T A 2: 31,310,118 (GRCm39) L3264* probably null Het
Hyal4 T A 6: 24,766,089 (GRCm39) L481* probably null Het
Ighv2-7 A G 12: 113,771,055 (GRCm39) Y77H possibly damaging Het
Jdp2 G T 12: 85,685,614 (GRCm39) R125L probably benign Het
Lrp1b A T 2: 41,013,748 (GRCm39) probably null Het
Lrp2 AC A 2: 69,340,763 (GRCm39) probably null Het
Marveld2 C T 13: 100,733,886 (GRCm39) D250N probably damaging Het
Mast3 A G 8: 71,242,662 (GRCm39) S53P probably damaging Het
Ms4a20 A G 19: 11,083,114 (GRCm39) I102T possibly damaging Het
Myo3b T C 2: 70,143,707 (GRCm39) V1041A probably benign Het
Nkpd1 T A 7: 19,257,009 (GRCm39) F113I probably damaging Het
Obscn A G 11: 58,923,490 (GRCm39) S6470P probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or4a73 T C 2: 89,420,661 (GRCm39) D266G possibly damaging Het
Or9g4b C T 2: 85,616,004 (GRCm39) R50C probably damaging Het
Pdcd11 G T 19: 47,108,722 (GRCm39) G1246V probably damaging Het
Phc3 A T 3: 30,996,714 (GRCm39) S219T probably damaging Het
Plxnb1 C T 9: 108,931,993 (GRCm39) probably null Het
Polh T C 17: 46,495,670 (GRCm39) D276G possibly damaging Het
Polq T A 16: 36,892,071 (GRCm39) V1991E probably damaging Het
Polr2g G A 19: 8,771,541 (GRCm39) R144C probably damaging Het
Pramel16 G A 4: 143,675,576 (GRCm39) H417Y possibly damaging Het
Prex2 A C 1: 11,207,001 (GRCm39) T520P possibly damaging Het
Psg21 T A 7: 18,386,279 (GRCm39) T236S possibly damaging Het
Ptpru A T 4: 131,520,836 (GRCm39) S761R probably benign Het
Rapgef6 G A 11: 54,510,842 (GRCm39) R253Q probably damaging Het
Rc3h2 C T 2: 37,279,658 (GRCm39) V524I probably benign Het
Sde2 T C 1: 180,685,784 (GRCm39) V112A probably damaging Het
Septin7 T C 9: 25,205,100 (GRCm39) probably null Het
Spef2 A G 15: 9,727,618 (GRCm39) V155A possibly damaging Het
St7 T C 6: 17,819,333 (GRCm39) probably null Het
Tmcc3 A T 10: 94,418,249 (GRCm39) Y339F probably damaging Het
Tmed6 T C 8: 107,792,083 (GRCm39) E54G probably damaging Het
Tnks1bp1 C T 2: 84,889,624 (GRCm39) probably benign Het
Trim43c T C 9: 88,722,600 (GRCm39) L82P possibly damaging Het
Txndc2 T C 17: 65,945,466 (GRCm39) D237G probably benign Het
Vmn1r91 T A 7: 19,835,404 (GRCm39) C108S possibly damaging Het
Vtn A T 11: 78,390,836 (GRCm39) D165V probably damaging Het
Wdr3 A T 3: 100,068,468 (GRCm39) S13R probably damaging Het
Zdhhc16 A G 19: 41,926,198 (GRCm39) Y31C probably benign Het
Zfp39 A T 11: 58,781,887 (GRCm39) W292R probably benign Het
Zfp612 A T 8: 110,816,606 (GRCm39) L604F probably damaging Het
Other mutations in Cavin2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00926:Cavin2 APN 1 51,340,036 (GRCm39) missense probably damaging 1.00
IGL01951:Cavin2 APN 1 51,328,570 (GRCm39) missense possibly damaging 0.82
R1649:Cavin2 UTSW 1 51,339,939 (GRCm39) missense probably benign 0.09
R1676:Cavin2 UTSW 1 51,340,330 (GRCm39) missense probably benign 0.05
R1966:Cavin2 UTSW 1 51,328,801 (GRCm39) missense probably damaging 1.00
R3038:Cavin2 UTSW 1 51,340,416 (GRCm39) missense possibly damaging 0.95
R3440:Cavin2 UTSW 1 51,340,565 (GRCm39) missense probably damaging 1.00
R4128:Cavin2 UTSW 1 51,340,581 (GRCm39) makesense probably null
R4524:Cavin2 UTSW 1 51,340,229 (GRCm39) missense probably benign 0.25
R4660:Cavin2 UTSW 1 51,340,510 (GRCm39) missense probably benign 0.00
R4662:Cavin2 UTSW 1 51,340,510 (GRCm39) missense probably benign 0.00
R5091:Cavin2 UTSW 1 51,340,398 (GRCm39) missense probably benign 0.01
R5296:Cavin2 UTSW 1 51,329,029 (GRCm39) critical splice donor site probably null
R5844:Cavin2 UTSW 1 51,328,998 (GRCm39) missense probably damaging 1.00
R6141:Cavin2 UTSW 1 51,340,097 (GRCm39) missense probably damaging 1.00
R6252:Cavin2 UTSW 1 51,328,828 (GRCm39) missense probably benign 0.30
R7128:Cavin2 UTSW 1 51,328,579 (GRCm39) missense possibly damaging 0.57
R7583:Cavin2 UTSW 1 51,328,777 (GRCm39) missense possibly damaging 0.93
R8051:Cavin2 UTSW 1 51,340,283 (GRCm39) missense probably benign
R9573:Cavin2 UTSW 1 51,328,795 (GRCm39) missense probably damaging 0.99
X0028:Cavin2 UTSW 1 51,340,261 (GRCm39) missense probably benign 0.07
Z1176:Cavin2 UTSW 1 51,340,315 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- CCTGTGCTTCTAGCTTGAGC -3'
(R):5'- AGCTTGCTCACTGTGTTGC -3'

Sequencing Primer
(F):5'- CTAGCTTGAGCAAGAAGTTTCCAGC -3'
(R):5'- AGGCCTGGTACTTGGAGAGC -3'
Posted On 2017-10-10