Incidental Mutation 'R6176:Cav2'
ID 487758
Institutional Source Beutler Lab
Gene Symbol Cav2
Ensembl Gene ENSMUSG00000000058
Gene Name caveolin 2
Synonyms
MMRRC Submission 044318-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6176 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 17281184-17289114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 17286918 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 58 (D58G)
Ref Sequence ENSEMBL: ENSMUSP00000111122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000058] [ENSMUST00000115459] [ENSMUST00000115462]
AlphaFold Q9WVC3
Predicted Effect possibly damaging
Transcript: ENSMUST00000000058
AA Change: T121A

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000000058
Gene: ENSMUSG00000000058
AA Change: T121A

DomainStartEndE-ValueType
Pfam:Caveolin 17 160 7.9e-59 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115459
SMART Domains Protein: ENSMUSP00000111119
Gene: ENSMUSG00000000058

DomainStartEndE-ValueType
Pfam:Caveolin 15 113 6.6e-46 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000115462
AA Change: D58G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131334
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.9%
Validation Efficiency 97% (60/62)
MGI Phenotype FUNCTION: This gene belongs to the caveolin family whose members encode the major protein components of caveolae, which are invaginations of plasma membrane. This gene is located adjacent to caveolin-1 and the proteins coexpressed by the two genes localize together in caveolae, where they form hetero-oligomers. The encoded protein may be involved in diverse cellular functions including proliferation, differentiation, endocytosis and trafficking. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a null allele show lung parenchyma hypercellularity, alveolar constriction and septal thickening, impaired exercise endurance, and skeletal muscle defects. Mice homozygous for a different null allele show reduced tumor vascularization and growth of subcutaneously implanted tumors. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akna T C 4: 63,295,969 (GRCm39) Q966R probably benign Het
Amn A G 12: 111,240,590 (GRCm39) D74G possibly damaging Het
Ank2 T A 3: 126,739,120 (GRCm39) T2255S probably benign Het
Ankfy1 G A 11: 72,645,285 (GRCm39) C788Y probably benign Het
Apaf1 A G 10: 90,895,433 (GRCm39) probably null Het
Asl T A 5: 130,047,720 (GRCm39) H82L probably benign Het
Atrn A G 2: 130,788,011 (GRCm39) E271G probably benign Het
B4galnt3 A G 6: 120,201,125 (GRCm39) F184S probably damaging Het
C1s2 T A 6: 124,602,768 (GRCm39) H481L probably damaging Het
Cc2d2a A T 5: 43,866,455 (GRCm39) H755L probably benign Het
Ccdc65 A G 15: 98,606,433 (GRCm39) probably null Het
Celsr3 A T 9: 108,705,554 (GRCm39) Y679F probably damaging Het
Cep135 A T 5: 76,772,490 (GRCm39) Y625F probably benign Het
Cfhr1 A G 1: 139,478,654 (GRCm39) S58P probably damaging Het
Clip4 T A 17: 72,113,628 (GRCm39) C259* probably null Het
Cyp2j12 T A 4: 96,029,074 (GRCm39) Q69L probably damaging Het
Dock3 G A 9: 106,790,147 (GRCm39) T1484I probably benign Het
Ecscr CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 18: 35,849,813 (GRCm39) probably benign Het
Efcab3 A T 11: 104,683,383 (GRCm39) I1604F probably benign Het
Fam43b T C 4: 138,122,522 (GRCm39) D266G probably damaging Het
Fbxl13 T A 5: 21,705,498 (GRCm39) I618F possibly damaging Het
Gne C T 4: 44,053,019 (GRCm39) probably benign Het
Gnpat T A 8: 125,605,593 (GRCm39) V321E probably damaging Het
Gpatch8 G A 11: 102,378,350 (GRCm39) A200V unknown Het
Grid1 C A 14: 35,284,504 (GRCm39) A749E probably benign Het
Grip2 C T 6: 91,756,832 (GRCm39) V540I probably benign Het
Ice2 C T 9: 69,324,354 (GRCm39) T759M probably damaging Het
Jrk G T 15: 74,578,189 (GRCm39) N365K possibly damaging Het
Kank4 A G 4: 98,653,791 (GRCm39) I879T probably damaging Het
Krtap20-1 T A 16: 88,812,288 (GRCm39) Y24* probably null Het
Lao1 T A 4: 118,819,197 (GRCm39) M1K probably null Het
Mlf1 A G 3: 67,291,927 (GRCm39) R31G probably damaging Het
Nt5c3b T C 11: 100,330,974 (GRCm39) probably benign Het
Nusap1 A G 2: 119,460,902 (GRCm39) R132G probably benign Het
Or11g1 A G 14: 50,651,847 (GRCm39) Y282C probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or5w20 G A 2: 87,727,280 (GRCm39) V254I probably benign Het
Or8d2b A C 9: 38,788,673 (GRCm39) D67A probably damaging Het
Paqr9 G T 9: 95,442,828 (GRCm39) V273L possibly damaging Het
Pcdha9 A T 18: 37,131,984 (GRCm39) D351V probably benign Het
Pcdhga1 A G 18: 37,797,282 (GRCm39) D762G probably benign Het
Pde3a T A 6: 141,444,615 (GRCm39) L1141Q possibly damaging Het
Pga5 T A 19: 10,649,149 (GRCm39) probably null Het
Phldb3 C A 7: 24,326,127 (GRCm39) R570S probably damaging Het
Slc22a6 A C 19: 8,599,161 (GRCm39) E264A probably damaging Het
Slc49a4 C T 16: 35,525,167 (GRCm39) M426I probably benign Het
Slit1 T C 19: 41,626,034 (GRCm39) K576R probably damaging Het
Sox21 T C 14: 118,473,040 (GRCm39) K3R possibly damaging Het
Stk32c A T 7: 138,700,691 (GRCm39) D297E probably benign Het
Suclg1 T C 6: 73,252,326 (GRCm39) V323A probably damaging Het
Tas1r2 T G 4: 139,396,199 (GRCm39) C513G probably damaging Het
Tbc1d23 A G 16: 56,992,152 (GRCm39) Y603H probably damaging Het
Tbc1d31 T C 15: 57,816,192 (GRCm39) V642A probably damaging Het
Tle2 A T 10: 81,423,168 (GRCm39) D486V probably damaging Het
Tmem232 A G 17: 65,792,867 (GRCm39) I110T probably damaging Het
Tmem39b A G 4: 129,586,894 (GRCm39) Y106H probably damaging Het
Trpm4 T G 7: 44,976,100 (GRCm39) N229T probably damaging Het
Tspo A G 15: 83,458,007 (GRCm39) T120A probably benign Het
Ttc28 G A 5: 111,371,851 (GRCm39) A767T probably damaging Het
Usp53 G A 3: 122,727,652 (GRCm39) Q977* probably null Het
Vmn1r215 T A 13: 23,260,528 (GRCm39) D189E probably damaging Het
Vmn2r12 T C 5: 109,233,866 (GRCm39) Y782C probably benign Het
Vmn2r54 A G 7: 12,349,908 (GRCm39) L558P probably damaging Het
Zfp268 T A 4: 145,350,628 (GRCm39) C688* probably null Het
Other mutations in Cav2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02944:Cav2 APN 6 17,281,456 (GRCm39) missense probably damaging 0.99
grotto UTSW 6 17,281,996 (GRCm39) missense probably damaging 1.00
R1689:Cav2 UTSW 6 17,281,421 (GRCm39) missense probably benign 0.00
R3859:Cav2 UTSW 6 17,281,462 (GRCm39) missense probably damaging 1.00
R4657:Cav2 UTSW 6 17,281,409 (GRCm39) missense probably null 1.00
R5187:Cav2 UTSW 6 17,286,935 (GRCm39) missense possibly damaging 0.81
R5359:Cav2 UTSW 6 17,287,064 (GRCm39) unclassified probably benign
R5510:Cav2 UTSW 6 17,287,012 (GRCm39) missense possibly damaging 0.83
R6747:Cav2 UTSW 6 17,286,950 (GRCm39) missense probably damaging 0.97
R6939:Cav2 UTSW 6 17,281,410 (GRCm39) missense possibly damaging 0.66
R7378:Cav2 UTSW 6 17,282,059 (GRCm39) missense probably benign 0.00
R7452:Cav2 UTSW 6 17,282,075 (GRCm39) missense probably damaging 1.00
R7569:Cav2 UTSW 6 17,282,078 (GRCm39) missense probably damaging 1.00
R8123:Cav2 UTSW 6 17,286,992 (GRCm39) nonsense probably null
R8789:Cav2 UTSW 6 17,281,996 (GRCm39) missense probably damaging 1.00
Z1176:Cav2 UTSW 6 17,281,432 (GRCm39) missense probably benign 0.44
Predicted Primers PCR Primer
(F):5'- TACCATACTGGCCACTGTCC -3'
(R):5'- GAACAGAACAGTAGTGAGTTTGTTG -3'

Sequencing Primer
(F):5'- GGCCACTGTCCATTTATTTATTGTG -3'
(R):5'- GTGAGTTTGTTGCATCAATAAAGTTG -3'
Posted On 2017-10-10