Incidental Mutation 'R4281:Cavin3'
ID 322895
Institutional Source Beutler Lab
Gene Symbol Cavin3
Ensembl Gene ENSMUSG00000037060
Gene Name caveolae associated 3
Synonyms 3110015B12Rik, 6330514M23Rik, Prkcdbp, cavin 3
MMRRC Submission 041649-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4281 (G1)
Quality Score 191
Status Validated
Chromosome 7
Chromosomal Location 105129823-105131404 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to C at 105130981 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044979 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047040] [ENSMUST00000047040]
AlphaFold Q91VJ2
Predicted Effect probably null
Transcript: ENSMUST00000047040
SMART Domains Protein: ENSMUSP00000044979
Gene: ENSMUSG00000037060

DomainStartEndE-ValueType
Pfam:PTRF_SDPR 19 234 1.7e-42 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000047040
SMART Domains Protein: ENSMUSP00000044979
Gene: ENSMUSG00000037060

DomainStartEndE-ValueType
Pfam:PTRF_SDPR 19 234 1.7e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210380
Meta Mutation Damage Score 0.9501 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 92% (44/48)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
B9d2 A G 7: 25,380,851 (GRCm39) T14A possibly damaging Het
Defa27 A G 8: 21,805,632 (GRCm39) N24S probably benign Het
Defb40 A G 8: 19,028,093 (GRCm39) S14P probably damaging Het
Dnaaf11 A T 15: 66,252,378 (GRCm39) H429Q probably benign Het
Dnmt3a G A 12: 3,951,665 (GRCm39) G681R probably damaging Het
Evc2 T C 5: 37,495,938 (GRCm39) V16A probably benign Het
Fam210b T C 2: 172,193,468 (GRCm39) Y94H probably damaging Het
Gimap8 A C 6: 48,635,754 (GRCm39) R506S probably benign Het
Gmip T A 8: 70,266,251 (GRCm39) probably benign Het
Gpr39 G A 1: 125,605,728 (GRCm39) V219I probably benign Het
Gsn A G 2: 35,188,883 (GRCm39) Y434C probably damaging Het
Gtf2a1l A G 17: 89,019,065 (GRCm39) N383S possibly damaging Het
Hepacam2 G A 6: 3,475,938 (GRCm39) T329I probably damaging Het
Iqgap3 T C 3: 88,006,167 (GRCm39) V526A probably benign Het
Magea14 T C X: 51,057,867 (GRCm39) Y273C probably damaging Het
Mark4 T C 7: 19,167,371 (GRCm39) K456R probably benign Het
Nox4 A G 7: 86,946,732 (GRCm39) I143V possibly damaging Het
Or11h7 T C 14: 50,891,029 (GRCm39) C112R probably benign Het
Or12j3 A G 7: 139,953,385 (GRCm39) I46T probably benign Het
Pcdh18 A G 3: 49,710,982 (GRCm39) L111P possibly damaging Het
Pnma5 T C X: 72,079,036 (GRCm39) M549V probably benign Het
Pnpla6 T C 8: 3,571,513 (GRCm39) L148P probably damaging Het
Ppp4r3c1 A T X: 88,976,105 (GRCm39) W31R probably damaging Het
Prkdc A G 16: 15,623,963 (GRCm39) probably null Het
Rars1 T C 11: 35,712,051 (GRCm39) E275G probably damaging Het
Rasa3 A G 8: 13,638,946 (GRCm39) V287A probably benign Het
Rimbp2 C T 5: 128,865,404 (GRCm39) R641Q possibly damaging Het
Slco6b1 A G 1: 96,925,115 (GRCm39) noncoding transcript Het
Sned1 A T 1: 93,213,577 (GRCm39) R426* probably null Het
Tmem132a C G 19: 10,839,090 (GRCm39) E451Q possibly damaging Het
Tmem229b-ps A G 10: 53,351,474 (GRCm39) noncoding transcript Het
Trim33 T A 3: 103,236,402 (GRCm39) V504D probably damaging Het
Usp47 A T 7: 111,709,200 (GRCm39) E1315D probably benign Het
Zbtb24 T C 10: 41,340,916 (GRCm39) S649P probably benign Het
Zfp28 A T 7: 6,396,700 (GRCm39) Q378H probably benign Het
Zfp612 A G 8: 110,816,691 (GRCm39) I594V probably damaging Het
Zfp692 T C 11: 58,205,091 (GRCm39) F447L probably damaging Het
Zranb3 A C 1: 127,891,614 (GRCm39) S787R possibly damaging Het
Other mutations in Cavin3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3522:Cavin3 UTSW 7 105,130,350 (GRCm39) missense probably benign 0.39
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
R8747:Cavin3 UTSW 7 105,131,154 (GRCm39) missense possibly damaging 0.55
R9652:Cavin3 UTSW 7 105,131,304 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGTCGCTGTTGTGAGAAAG -3'
(R):5'- AATTGGCCACCATGCTGGAG -3'

Sequencing Primer
(F):5'- GAAAGTGGGTGCGGCTC -3'
(R):5'- TGCGTCGCATACAGAGTG -3'
Posted On 2015-06-20