Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01333:Cav3'

74562

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cav3

Ensembl Gene

ENSMUSG00000062694

Gene Name

caveolin 3

Synonyms

M-caveolin, Cav-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

IGL01333

Quality Score

Status

Chromosome

Chromosomal Location

112436466-112449833 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 112436888 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000074922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075477]

AlphaFold

P51637

Predicted Effect

probably null
Transcript: ENSMUST00000075477

SMART Domains

Protein: ENSMUSP00000074922
Gene: ENSMUSG00000062694

Domain	Start	End	E-Value	Type
Pfam:Caveolin	15	148	9.5e-61	PFAM

Coding Region Coverage

Validation Efficiency

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. The encoded protein is muscle-specific and forms homooligomers in muscle cells. The protein binds and regulates phosphofructokinase M and neuronal nitric oxide synthase. It also associates with dystrophin in muscle cells. Mutations in this gene are associated with muscular dystrophy. [provided by RefSeq, Apr 2013]
PHENOTYPE: Homozygous targeted mutant animals display mild myopathic changes in muscle. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	G	T	7: 119,981,531 (GRCm39)	C995F	probably damaging	Het
Adamts7	G	T	9: 90,069,032 (GRCm39)	G525C	probably damaging	Het
Akap1	T	C	11: 88,736,431 (GRCm39)	E110G	probably damaging	Het
Ankrd7	A	G	6: 18,879,345 (GRCm39)	H263R	probably damaging	Het
Ccdc66	T	C	14: 27,215,272 (GRCm39)	R423G	possibly damaging	Het
Cep76	C	T	18: 67,773,187 (GRCm39)	R37Q	probably benign	Het
Chfr	A	G	5: 110,291,439 (GRCm39)	K86E	possibly damaging	Het
Eif2b3	T	A	4: 116,927,887 (GRCm39)	S369T	probably benign	Het
Hgf	A	T	5: 16,781,939 (GRCm39)	R221*	probably null	Het
Hspg2	T	C	4: 137,267,625 (GRCm39)	Y2078H	probably damaging	Het
Kif22	A	C	7: 126,633,367 (GRCm39)	V55G	probably damaging	Het
Mme	T	C	3: 63,253,512 (GRCm39)	I452T	probably damaging	Het
Mrpl41	T	C	2: 24,864,453 (GRCm39)	N73S	probably benign	Het
Mup6	T	C	4: 60,005,529 (GRCm39)	F112S	probably damaging	Het
Nktr	A	G	9: 121,560,630 (GRCm39)	I125V	possibly damaging	Het
Nup205	T	C	6: 35,217,998 (GRCm39)	F1784L	probably benign	Het
Nwd1	A	G	8: 73,393,439 (GRCm39)	D275G	possibly damaging	Het
Or4d11	G	A	19: 12,013,305 (GRCm39)	T267I	probably benign	Het
Or5h19	T	C	16: 58,856,269 (GRCm39)	Y277C	probably damaging	Het
Pde6c	G	A	19: 38,164,143 (GRCm39)	E666K	probably benign	Het
Pth2r	A	T	1: 65,427,884 (GRCm39)	D519V	probably benign	Het
Reln	A	T	5: 22,376,249 (GRCm39)	I169N	probably damaging	Het
Shoc1	T	C	4: 59,047,870 (GRCm39)	N1250D	possibly damaging	Het
Slc25a13	A	G	6: 6,042,739 (GRCm39)		probably null	Het
Smg1	A	G	7: 117,762,601 (GRCm39)		probably benign	Het
Sp1	A	G	15: 102,339,364 (GRCm39)	E434G	probably damaging	Het
Stt3b	A	T	9: 115,086,612 (GRCm39)	Y336N	probably damaging	Het
Vmn2r104	T	A	17: 20,263,055 (GRCm39)	R135S	probably benign	Het
Zfhx4	C	T	3: 5,464,387 (GRCm39)	T1515I	probably damaging	Het
Zfp280d	A	G	9: 72,242,396 (GRCm39)		probably benign	Het

Other mutations in Cav3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1125:Cav3	UTSW	6	112,449,257 (GRCm39)	missense	probably damaging	1.00
R1649:Cav3	UTSW	6	112,449,207 (GRCm39)	missense	probably damaging	1.00
R2126:Cav3	UTSW	6	112,449,344 (GRCm39)	missense	probably benign	0.19
R3441:Cav3	UTSW	6	112,449,402 (GRCm39)	missense	possibly damaging	0.50
R3442:Cav3	UTSW	6	112,449,402 (GRCm39)	missense	possibly damaging	0.50
R3710:Cav3	UTSW	6	112,436,774 (GRCm39)	start codon destroyed	probably null	0.51
R5004:Cav3	UTSW	6	112,436,885 (GRCm39)	missense	probably damaging	0.99
R6950:Cav3	UTSW	6	112,449,171 (GRCm39)	missense	probably damaging	1.00
R7567:Cav3	UTSW	6	112,449,428 (GRCm39)	missense	probably benign	0.21
R7770:Cav3	UTSW	6	112,449,147 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07