Incidental Mutation 'R7569:Cav2'
ID 585631
Institutional Source Beutler Lab
Gene Symbol Cav2
Ensembl Gene ENSMUSG00000000058
Gene Name caveolin 2
Synonyms
MMRRC Submission 045657-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7569 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 17281184-17289114 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 17282078 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 112 (I112N)
Ref Sequence ENSEMBL: ENSMUSP00000000058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000058] [ENSMUST00000115459] [ENSMUST00000115462]
AlphaFold Q9WVC3
Predicted Effect probably damaging
Transcript: ENSMUST00000000058
AA Change: I112N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000058
Gene: ENSMUSG00000000058
AA Change: I112N

DomainStartEndE-ValueType
Pfam:Caveolin 17 160 7.9e-59 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000115459
AA Change: I112N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111119
Gene: ENSMUSG00000000058
AA Change: I112N

DomainStartEndE-ValueType
Pfam:Caveolin 15 113 6.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000115462
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (58/59)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330182O14Rik A T 15: 40,008,344 (GRCm39) T73S unknown Het
Acvrl1 A G 15: 101,033,636 (GRCm39) Q106R probably benign Het
Adgb A T 10: 10,306,996 (GRCm39) D329E probably benign Het
Ankrd12 A T 17: 66,289,900 (GRCm39) D1844E probably damaging Het
Ankub1 G A 3: 57,573,039 (GRCm39) R228* probably null Het
Apol6 A C 15: 76,934,898 (GRCm39) probably benign Het
Ascc2 G A 11: 4,629,506 (GRCm39) V618M probably damaging Het
Asic3 A G 5: 24,619,046 (GRCm39) T113A probably benign Het
BC034090 T A 1: 155,093,151 (GRCm39) H769L probably benign Het
Bcl11a G T 11: 24,035,458 (GRCm39) E65* probably null Het
Birc6 G T 17: 74,905,077 (GRCm39) R1290L possibly damaging Het
C6 A G 15: 4,819,063 (GRCm39) E465G probably benign Het
Cep131 G A 11: 119,957,539 (GRCm39) A848V probably damaging Het
Col8a1 T A 16: 57,447,555 (GRCm39) I652F unknown Het
Cul4a A G 8: 13,173,493 (GRCm39) N180S probably benign Het
Dhx38 A G 8: 110,287,327 (GRCm39) S214P probably damaging Het
Dmxl2 A G 9: 54,323,271 (GRCm39) V1197A possibly damaging Het
Dynlt1f A G 17: 6,923,181 (GRCm39) S7P not run Het
Eef1ece2 T A 16: 20,461,237 (GRCm39) Y641* probably null Het
Epha1 T A 6: 42,342,356 (GRCm39) T331S possibly damaging Het
Hus1b A G 13: 31,130,847 (GRCm39) Y271H probably damaging Het
Kmt2b A G 7: 30,268,978 (GRCm39) V2610A possibly damaging Het
Lama2 A G 10: 27,141,046 (GRCm39) L651P probably damaging Het
Lgr5 T C 10: 115,298,661 (GRCm39) Y361C probably damaging Het
Map1s T C 8: 71,366,142 (GRCm39) V349A probably benign Het
Map3k6 A G 4: 132,977,388 (GRCm39) R912G probably benign Het
Mtarc2 A T 1: 184,573,622 (GRCm39) F92Y possibly damaging Het
Nampt T A 12: 32,900,433 (GRCm39) H459Q probably benign Het
Nlrp1a T C 11: 70,999,869 (GRCm39) M817V probably benign Het
Npsr1 A G 9: 24,225,026 (GRCm39) R345G probably benign Het
Nuak2 G A 1: 132,244,019 (GRCm39) A18T possibly damaging Het
Or4d6 T C 19: 12,086,385 (GRCm39) D175G possibly damaging Het
Or5ak23 A G 2: 85,244,479 (GRCm39) V248A probably damaging Het
Pierce1 TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC 2: 28,356,122 (GRCm39) probably benign Het
Ppp4r3b T C 11: 29,138,540 (GRCm39) F296S possibly damaging Het
Pramel51 A T 12: 88,143,085 (GRCm39) Y373N probably benign Het
Pycr2 T C 1: 180,732,083 (GRCm39) F19L probably benign Het
Robo2 T A 16: 73,832,003 (GRCm39) T226S possibly damaging Het
Rock1 A T 18: 10,140,194 (GRCm39) N132K probably damaging Het
Rp1 A T 1: 4,355,063 (GRCm39) L379Q unknown Het
Sema6d A G 2: 124,499,892 (GRCm39) I323V possibly damaging Het
Slc12a4 A G 8: 106,672,479 (GRCm39) I814T probably damaging Het
Slc18a2 G A 19: 59,272,584 (GRCm39) G352R probably damaging Het
Slc39a14 T C 14: 70,547,276 (GRCm39) T357A possibly damaging Het
Smarcad1 T A 6: 65,029,695 (GRCm39) D94E probably benign Het
Sorcs2 A G 5: 36,183,220 (GRCm39) Y1018H probably benign Het
Srebf1 G T 11: 60,090,947 (GRCm39) T1069K possibly damaging Het
St3gal3 A G 4: 117,821,553 (GRCm39) V123A probably benign Het
Stradb A G 1: 59,030,310 (GRCm39) Y188C unknown Het
Styxl2 T C 1: 165,935,604 (GRCm39) D198G probably damaging Het
Sult2a2 T C 7: 13,513,430 (GRCm39) F186L probably benign Het
Syne2 A G 12: 75,974,164 (GRCm39) T1120A probably benign Het
Taok1 A T 11: 77,446,440 (GRCm39) S430T probably benign Het
Tmem62 A T 2: 120,837,411 (GRCm39) I573L probably benign Het
Trav9-1 T C 14: 53,725,581 (GRCm39) S7P probably benign Het
U2af1l4 A T 7: 30,262,982 (GRCm39) I24F probably damaging Het
Usp33 T A 3: 152,097,302 (GRCm39) I840N probably damaging Het
Vmn2r74 A C 7: 85,601,544 (GRCm39) I698S probably damaging Het
Zfp352 C T 4: 90,111,896 (GRCm39) P12L possibly damaging Het
Zfp507 T A 7: 35,493,969 (GRCm39) E358V probably damaging 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
R6176:Cav2 UTSW 6 17,286,918 (GRCm39) missense possibly damaging 0.90
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
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'- TAGGCTTCGAGGATCTGATTGC -3'
(R):5'- GAAAGAGGCCCTTGCTTCCTTC -3'

Sequencing Primer
(F):5'- TCTGATTGCAGAGCCTGAGACTAC -3'
(R):5'- GTTTAAACTCTCAGCCGGGAC -3'
Posted On 2019-10-17