Incidental Mutation 'R7128:Cavin2'
ID 552428
Institutional Source Beutler Lab
Gene Symbol Cavin2
Ensembl Gene ENSMUSG00000045954
Gene Name caveolae associated 2
Synonyms cavin 2, Sdpr
Accession Numbers
Essential gene? Probably non essential (E-score: 0.153) question?
Stock # R7128 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 51328285-51342119 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 51328579 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 12 (Q12R)
Ref Sequence ENSEMBL: ENSMUSP00000055694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051572]
AlphaFold Q63918
Predicted Effect possibly damaging
Transcript: ENSMUST00000051572
AA Change: Q12R

PolyPhen 2 Score 0.571 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000055694
Gene: ENSMUSG00000045954
AA Change: Q12R

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgb T C 10: 10,347,985 (GRCm39) D25G probably benign Het
Ak9 T C 10: 41,300,713 (GRCm39) V1641A unknown Het
Akirin2 T C 4: 34,562,435 (GRCm39) I118T probably benign Het
Aldh1l1 G T 6: 90,540,361 (GRCm39) Q215H probably benign Het
Arhgef26 T C 3: 62,326,971 (GRCm39) F495L possibly damaging Het
Atg4a-ps T A 3: 103,553,063 (GRCm39) R93* probably null Het
Brd10 T C 19: 29,693,881 (GRCm39) T1871A possibly damaging Het
Catsper3 A G 13: 55,946,662 (GRCm39) I120V probably benign Het
Cenpf A T 1: 189,417,188 (GRCm39) F39Y probably damaging Het
Chfr T C 5: 110,291,502 (GRCm39) Y107H probably benign Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Defb4 T A 8: 19,251,220 (GRCm39) I29K possibly damaging Het
Dnah7c A G 1: 46,566,645 (GRCm39) T619A probably benign Het
Duxf1 T C 10: 58,059,479 (GRCm39) Q425R unknown Het
Emc3 A G 6: 113,494,881 (GRCm39) L179P probably damaging Het
Eno3 G C 11: 70,549,430 (GRCm39) V84L possibly damaging Het
Fam110a C T 2: 151,812,642 (GRCm39) V43M probably damaging Het
Fbxo30 T A 10: 11,165,860 (GRCm39) L194* probably null Het
Galnt14 T C 17: 73,852,096 (GRCm39) T108A probably benign Het
Glipr2 T C 4: 43,968,601 (GRCm39) I51T probably benign Het
Gm1527 C T 3: 28,969,460 (GRCm39) S270F possibly damaging Het
Gm3336 A G 8: 71,171,203 (GRCm39) M1V probably null Het
Gm4744 T C 6: 40,927,310 (GRCm39) D15G Het
Gm4924 G A 10: 82,214,533 (GRCm39) C777Y unknown Het
Gm5901 G A 7: 105,027,408 (GRCm39) G306S probably damaging Het
Gon4l T A 3: 88,802,999 (GRCm39) N1203K possibly damaging Het
Gpr161 A T 1: 165,138,026 (GRCm39) Y204F possibly damaging Het
Igsf10 T C 3: 59,236,326 (GRCm39) E1285G probably benign Het
Irx6 T C 8: 93,403,994 (GRCm39) L187P probably damaging Het
Itgb1bp1 A G 12: 21,322,089 (GRCm39) Y117H probably benign Het
Itln1 C A 1: 171,358,143 (GRCm39) D202Y possibly damaging Het
Kctd9 T C 14: 67,975,972 (GRCm39) S242P probably benign Het
Lrrk2 A G 15: 91,686,088 (GRCm39) H2143R probably benign Het
Lynx1 G A 15: 74,623,398 (GRCm39) R50* probably null Het
Lypd11 C T 7: 24,425,424 (GRCm39) probably null Het
Map10 A G 8: 126,398,592 (GRCm39) I662V probably benign Het
Mlxipl T C 5: 135,162,705 (GRCm39) L691P probably damaging Het
Muc16 A G 9: 18,554,300 (GRCm39) S3998P unknown Het
Nalcn A T 14: 123,831,914 (GRCm39) V120E probably damaging Het
Nfat5 T C 8: 108,085,323 (GRCm39) S539P probably benign Het
Olfml3 T C 3: 103,644,484 (GRCm39) M62V probably benign Het
Orm3 T C 4: 63,276,062 (GRCm39) V158A probably benign Het
Pakap T C 4: 57,855,816 (GRCm39) S382P probably benign Het
Pced1b A T 15: 97,282,479 (GRCm39) K173* probably null Het
Pdzd7 T C 19: 45,016,388 (GRCm39) D911G probably damaging Het
Pkn3 A G 2: 29,973,327 (GRCm39) D383G probably damaging Het
Pm20d1 A G 1: 131,725,292 (GRCm39) E46G probably benign Het
Pyroxd2 A T 19: 42,719,842 (GRCm39) S455T probably benign Het
Rmnd5b T A 11: 51,515,364 (GRCm39) I301F possibly damaging Het
Rnf225 A G 7: 12,661,911 (GRCm39) N30S probably benign Het
Shisal2a G T 4: 108,225,100 (GRCm39) T154K probably benign Het
Slfn3 T A 11: 83,105,721 (GRCm39) C573S probably benign Het
Smc6 A G 12: 11,351,632 (GRCm39) E887G probably damaging Het
Sp140 A T 1: 85,547,846 (GRCm39) D191V possibly damaging Het
Srf C T 17: 46,866,372 (GRCm39) S128N possibly damaging Het
Sult6b1 T C 17: 79,202,070 (GRCm39) D144G probably damaging Het
Syne1 G A 10: 5,193,180 (GRCm39) A3956V probably damaging Het
Syt10 A T 15: 89,698,314 (GRCm39) D343E probably damaging Het
Tgtp2 G A 11: 48,950,135 (GRCm39) R146C possibly damaging Het
Tmcc3 A T 10: 94,266,496 (GRCm39) probably benign Het
Tnfrsf1a A T 6: 125,338,499 (GRCm39) T337S probably benign Het
Tns1 A T 1: 74,034,463 (GRCm39) I144N Het
Trim11 A G 11: 58,869,103 (GRCm39) E13G probably damaging Het
Trpm6 A T 19: 18,789,137 (GRCm39) H569L possibly damaging Het
Ttbk2 T A 2: 120,576,569 (GRCm39) I803L probably benign Het
Vmn1r21 G T 6: 57,820,936 (GRCm39) N169K probably damaging Het
Vmn2r60 C T 7: 41,844,536 (GRCm39) T633I probably damaging Het
Wt1 T C 2: 104,957,670 (GRCm39) Y177H probably benign 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
R6177:Cavin2 UTSW 1 51,328,654 (GRCm39) missense probably damaging 1.00
R6252:Cavin2 UTSW 1 51,328,828 (GRCm39) missense probably benign 0.30
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'- GAATGCAGTTCCCCTGATCAG -3'
(R):5'- GATCTGACGCTGTTCCATGTTG -3'

Sequencing Primer
(F):5'- AATGCAGTTCCCCTGATCAGCTTAG -3'
(R):5'- GTGCTGGTTCTCCCTCACGG -3'
Posted On 2019-05-15