Incidental Mutation 'R8747:Cavin3'
ID 663606
Institutional Source Beutler Lab
Gene Symbol Cavin3
Ensembl Gene ENSMUSG00000037060
Gene Name caveolae associated 3
Synonyms 3110015B12Rik, 6330514M23Rik, Prkcdbp, cavin 3
MMRRC Submission 068618-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8747 (G1)
Quality Score 143.008
Status Validated
Chromosome 7
Chromosomal Location 105129823-105131404 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 105131154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Glutamine at position 71 (H71Q)
Ref Sequence ENSEMBL: ENSMUSP00000044979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047040]
AlphaFold Q91VJ2
Predicted Effect possibly damaging
Transcript: ENSMUST00000047040
AA Change: H71Q

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000044979
Gene: ENSMUSG00000037060
AA Change: H71Q

DomainStartEndE-ValueType
Pfam:PTRF_SDPR 19 234 1.7e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.5%
Validation Efficiency 100% (52/52)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene was identified as a binding protein of the protein kinase C, delta (PRKCD). The expression of this gene in cultured cell lines is strongly induced by serum starvation. The expression of this protein was found to be down-regulated in various cancer cell lines, suggesting the possible tumor suppressor function of this protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased body weight, severe lipodystrophy, hepatic steatosis, increased fermentative glycolysis in lung tissue, and premature death as a result of cachexia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,632,240 (GRCm39) D190G probably benign Het
Abhd11 A G 5: 135,040,760 (GRCm39) I271V possibly damaging Het
Akap6 T G 12: 53,188,999 (GRCm39) S2138A probably benign Het
Amn C A 12: 111,241,440 (GRCm39) P235H probably damaging Het
Arf2 A T 11: 103,859,975 (GRCm39) M18L probably benign Het
Asic2 A T 11: 81,043,233 (GRCm39) F20Y possibly damaging Het
Bok T C 1: 93,622,664 (GRCm39) probably null Het
Cachd1 T A 4: 100,860,045 (GRCm39) probably benign Het
Casp8 A G 1: 58,883,617 (GRCm39) N308S probably benign Het
Ccdc87 A G 19: 4,891,646 (GRCm39) I713V probably benign Het
Clcn6 A T 4: 148,093,354 (GRCm39) probably null Het
Cmas T C 6: 142,716,927 (GRCm39) I273T possibly damaging Het
Ctxn3 A T 18: 57,610,378 (GRCm39) D65V probably damaging Het
D130040H23Rik C A 8: 69,755,705 (GRCm39) N387K probably benign Het
Depp1 T A 6: 116,629,122 (GRCm39) L155Q possibly damaging Het
Dnah9 T C 11: 65,818,816 (GRCm39) K3174R possibly damaging Het
Ecpas C T 4: 58,828,632 (GRCm39) V934I probably damaging Het
Efcab14 A G 4: 115,603,793 (GRCm39) N157S probably damaging Het
Ets1 G A 9: 32,641,474 (GRCm39) G109D probably damaging Het
Fbln5 G A 12: 101,734,754 (GRCm39) R173C probably damaging Het
Fchsd1 G A 18: 38,096,035 (GRCm39) P525L probably benign Het
Gmppa G A 1: 75,416,025 (GRCm39) V156I probably damaging Het
Gtpbp1 A G 15: 79,603,482 (GRCm39) D182G Het
Ift140 T A 17: 25,254,809 (GRCm39) S430T probably benign Het
Kat7 G C 11: 95,185,392 (GRCm39) C161W probably damaging Het
Lipk T A 19: 33,996,184 (GRCm39) M32K probably damaging Het
Lum A T 10: 97,404,351 (GRCm39) D82V possibly damaging Het
Macf1 C A 4: 123,248,944 (GRCm39) A7196S probably damaging Het
Mroh2b T A 15: 4,964,782 (GRCm39) S926T probably damaging Het
Nbn G T 4: 15,981,555 (GRCm39) R549I probably damaging Het
Nfu1 T C 6: 86,996,400 (GRCm39) I117T probably damaging Het
Or51f1 T C 7: 102,506,139 (GRCm39) T117A probably benign Het
Or7a39 A G 10: 78,715,155 (GRCm39) T50A probably benign Het
Parp1 T C 1: 180,422,275 (GRCm39) L778P probably damaging Het
Pbld2 G T 10: 62,888,069 (GRCm39) V125F probably benign Het
Prkag2 A G 5: 25,085,680 (GRCm39) probably null Het
Prss54 A G 8: 96,286,351 (GRCm39) F241L probably benign Het
Rnf121 T C 7: 101,678,316 (GRCm39) D177G probably damaging Het
Slc12a7 G A 13: 73,933,241 (GRCm39) V100I probably benign Het
Slc28a1 C T 7: 80,774,719 (GRCm39) L189F possibly damaging Het
Slc35a3 T C 3: 116,488,219 (GRCm39) Q16R probably damaging Het
Snap91 A G 9: 86,686,577 (GRCm39) F354L probably damaging Het
Steap2 A G 5: 5,723,539 (GRCm39) I447T probably benign Het
Tagap T A 17: 8,147,602 (GRCm39) I104N probably damaging Het
Tas1r2 A G 4: 139,387,318 (GRCm39) D259G probably benign Het
Tgm3 T C 2: 129,886,452 (GRCm39) S558P probably benign Het
Tuba3a A G 6: 125,258,018 (GRCm39) V324A probably damaging Het
Vmn1r238 T G 18: 3,123,232 (GRCm39) I61L possibly damaging Het
Vmn1r52 A G 6: 90,156,451 (GRCm39) T252A probably benign Het
Vmp1 A G 11: 86,492,885 (GRCm39) V308A probably damaging Het
Wdfy4 A C 14: 32,874,611 (GRCm39) V159G Het
Zfp180 A G 7: 23,804,687 (GRCm39) T369A possibly damaging Het
Zfp827 A G 8: 79,755,316 (GRCm39) M1V probably null Het
Zmym4 A G 4: 126,787,198 (GRCm39) I1031T probably damaging Het
Other mutations in Cavin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3522:Cavin3 UTSW 7 105,130,350 (GRCm39) missense probably benign 0.39
R4281:Cavin3 UTSW 7 105,130,981 (GRCm39) critical splice donor site probably null
R4676:Cavin3 UTSW 7 105,130,320 (GRCm39) missense probably damaging 1.00
R8375:Cavin3 UTSW 7 105,130,228 (GRCm39) missense probably damaging 0.96
R9652:Cavin3 UTSW 7 105,131,304 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCACTGACCTTGAAGAGCAG -3'
(R):5'- TGAGTCACGGCCTGAACTAG -3'

Sequencing Primer
(F):5'- CCTTGAAGAGCAGGACGTG -3'
(R):5'- CCGGTGGTCAGAGATCATG -3'
Posted On 2021-03-08