Mutagenetix > Incidental Mutation

Incidental Mutation 'R2655:Cav1'

252650

Institutional Source

Beutler Lab

Gene Symbol

Cav1

Ensembl Gene

ENSMUSG00000007655

Gene Name

caveolin 1, caveolae protein

Synonyms

Cav-1, caveolin-1

MMRRC Submission

040430-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.404) question?

Stock #

R2655 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

17306387-17341323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17339359 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 148 (Y148C)

Ref Sequence

ENSEMBL: ENSMUSP00000111116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007799] [ENSMUST00000115453] [ENSMUST00000115454] [ENSMUST00000115455] [ENSMUST00000115456] [ENSMUST00000123439] [ENSMUST00000177234]

AlphaFold

P49817

Predicted Effect

probably damaging
Transcript: ENSMUST00000007799
AA Change: Y148C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000007799
Gene: ENSMUSG00000007655
AA Change: Y148C

Domain	Start	End	E-Value	Type
Pfam:Caveolin	27	177	4.1e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115453
AA Change: Y117C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111113
Gene: ENSMUSG00000007655
AA Change: Y117C

Domain	Start	End	E-Value	Type
Pfam:Caveolin	1	146	2e-69	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115454
AA Change: Y117C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111114
Gene: ENSMUSG00000007655
AA Change: Y117C

Domain	Start	End	E-Value	Type
Pfam:Caveolin	1	146	2e-69	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000115455

SMART Domains

Protein: ENSMUSP00000111115
Gene: ENSMUSG00000007655

Domain	Start	End	E-Value	Type
Pfam:Caveolin	16	115	2.4e-46	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000115456
AA Change: Y148C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000111116
Gene: ENSMUSG00000007655
AA Change: Y148C

Domain	Start	End	E-Value	Type
Pfam:Caveolin	42	175	1.1e-62	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000123439

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131334

Predicted Effect

probably benign
Transcript: ENSMUST00000177234

Meta Mutation Damage Score

0.3237

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

100% (39/39)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The scaffolding protein encoded by this gene is the main component of the caveolae plasma membranes found in most cell types. The protein links integrin subunits to the tyrosine kinase FYN, an initiating step in coupling integrins to the Ras-ERK pathway and promoting cell cycle progression. The gene is a tumor suppressor gene candidate and a negative regulator of the Ras-p42/44 mitogen-activated kinase cascade. Caveolin 1 and caveolin 2 are located next to each other on chromosome 7 and express colocalizing proteins that form a stable hetero-oligomeric complex. Mutations in this gene have been associated with Berardinelli-Seip congenital lipodystrophy. Alternatively spliced transcripts encode alpha and beta isoforms of caveolin 1.[provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous targeted mutants displayed vascular system dysfunctions and thickening of lung aveloar septa from hyperproliferation and fibrosis, ultimately causing the mice physical limitations. Mice also display increased incidence of calcium calculi, kidney stones, and decreased adiposity. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot5	T	A	12: 84,122,650 (GRCm39)	S411R	probably benign	Het
Adamts12	A	T	15: 11,065,174 (GRCm39)	N20Y	possibly damaging	Het
Bbs9	G	A	9: 22,415,348 (GRCm39)	E91K	probably damaging	Het
Casp4	C	A	9: 5,322,894 (GRCm39)	L57I	possibly damaging	Het
Cat	T	C	2: 103,302,191 (GRCm39)	K169E	probably damaging	Het
Cep112	T	C	11: 108,328,027 (GRCm39)		probably benign	Het
Chaf1b	T	C	16: 93,688,399 (GRCm39)	S165P	probably damaging	Het
Crat	A	G	2: 30,292,703 (GRCm39)	S115P	probably damaging	Het
Eif2b1	A	G	5: 124,714,917 (GRCm39)	S120P	probably damaging	Het
Epor	A	G	9: 21,872,016 (GRCm39)	S236P	probably damaging	Het
Ggt1	T	A	10: 75,417,219 (GRCm39)	Y5*	probably null	Het
Igfbpl1	T	C	4: 45,816,289 (GRCm39)	T179A	probably damaging	Het
Ighv14-4	T	G	12: 114,140,068 (GRCm39)	Y114S	probably damaging	Het
Ipcef1	T	C	10: 6,929,657 (GRCm39)	I29V	probably benign	Het
Junb	A	G	8: 85,704,137 (GRCm39)	S308P	probably damaging	Het
Kcnh5	T	C	12: 75,161,314 (GRCm39)	E198G	probably damaging	Het
Ltbp1	G	A	17: 75,312,978 (GRCm39)	R33H	possibly damaging	Het
Map3k20	C	A	2: 72,263,764 (GRCm39)	T471K	probably damaging	Het
Nr2c2	C	T	6: 92,140,119 (GRCm39)	R464W	probably damaging	Het
Odad4	T	A	11: 100,444,405 (GRCm39)	W237R	probably damaging	Het
Or51a10	T	C	7: 103,698,638 (GRCm39)	M308V	probably benign	Het
Or8g35	A	T	9: 39,381,924 (GRCm39)	S33T	probably benign	Het
Patj	T	C	4: 98,325,687 (GRCm39)	V508A	possibly damaging	Het
Pkd1	T	C	17: 24,795,464 (GRCm39)	V2319A	probably damaging	Het
Pnpla7	A	G	2: 24,942,330 (GRCm39)	Y83C	probably damaging	Het
Prb1a	G	C	6: 132,187,425 (GRCm39)	Q19E	unknown	Het
Rasa3	T	C	8: 13,645,373 (GRCm39)	T189A	possibly damaging	Het
Reck	T	A	4: 43,938,966 (GRCm39)	D777E	probably benign	Het
Rfx6	A	G	10: 51,569,873 (GRCm39)		probably benign	Het
Serpinb13	A	G	1: 106,928,157 (GRCm39)	D259G	probably damaging	Het
Slit2	G	A	5: 48,346,917 (GRCm39)	R253Q	possibly damaging	Het
Slu7	A	G	11: 43,331,475 (GRCm39)	E203G	probably benign	Het
Syt4	A	T	18: 31,576,597 (GRCm39)	D252E	probably benign	Het
Tpte	A	G	8: 22,801,294 (GRCm39)		probably null	Het
Ttll7	A	G	3: 146,653,376 (GRCm39)	Y729C	probably damaging	Het
Usp35	T	A	7: 96,961,354 (GRCm39)	T691S	probably benign	Het
Vmn1r211	A	G	13: 23,036,586 (GRCm39)	V27A	probably benign	Het
Vmn2r72	T	C	7: 85,400,477 (GRCm39)	T191A	possibly damaging	Het
Vwa5b1	C	T	4: 138,321,614 (GRCm39)	G393D	probably damaging	Het

Other mutations in Cav1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:Cav1	APN	6	17,307,971 (GRCm39)	missense	possibly damaging	0.93
shortstop	UTSW	6	17,308,034 (GRCm39)	missense	probably damaging	0.99
R0113:Cav1	UTSW	6	17,308,048 (GRCm39)	missense	possibly damaging	0.60
R0149:Cav1	UTSW	6	17,339,352 (GRCm39)	missense	possibly damaging	0.46
R0361:Cav1	UTSW	6	17,339,352 (GRCm39)	missense	possibly damaging	0.46
R1706:Cav1	UTSW	6	17,339,181 (GRCm39)	missense	probably damaging	0.96
R1930:Cav1	UTSW	6	17,339,331 (GRCm39)	missense	probably damaging	1.00
R1931:Cav1	UTSW	6	17,339,331 (GRCm39)	missense	probably damaging	1.00
R2166:Cav1	UTSW	6	17,339,430 (GRCm39)	missense	possibly damaging	0.69
R4416:Cav1	UTSW	6	17,339,248 (GRCm39)	missense	probably benign	0.36
R4460:Cav1	UTSW	6	17,306,471 (GRCm39)	missense	probably damaging	0.99
R5204:Cav1	UTSW	6	17,339,254 (GRCm39)	missense	probably damaging	1.00
R5956:Cav1	UTSW	6	17,307,918 (GRCm39)	missense	probably damaging	1.00
R6467:Cav1	UTSW	6	17,308,034 (GRCm39)	missense	probably damaging	0.99
R7041:Cav1	UTSW	6	17,339,143 (GRCm39)	missense	possibly damaging	0.70
R8370:Cav1	UTSW	6	17,339,293 (GRCm39)	missense	possibly damaging	0.88
R8957:Cav1	UTSW	6	17,339,235 (GRCm39)	missense	probably benign	0.01
R9614:Cav1	UTSW	6	17,339,403 (GRCm39)	missense	probably benign
X0026:Cav1	UTSW	6	17,339,161 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGGACACACAGTTTCGAC -3'
(R):5'- TTCATAAATTTGCTGCTGCGAGAG -3'

Sequencing Primer
(F):5'- ACACAGTTTCGACGGCATCTG -3'
(R):5'- GCAACTTGGAATTGGCACC -3'

Posted On

2014-12-04