Mutagenetix > Incidental Mutation

Incidental Mutation 'R4460:Cav1'

330101

Institutional Source

Beutler Lab

Gene Symbol

Cav1

Ensembl Gene

ENSMUSG00000007655

Gene Name

caveolin 1, caveolae protein

Synonyms

Cav-1, caveolin-1

MMRRC Submission

041719-MU

Accession Numbers

Essential gene?

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

Stock #

R4460 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

17306387-17341323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17306471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 8 (D8G)

Ref Sequence

ENSEMBL: ENSMUSP00000135374 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007799] [ENSMUST00000115453] [ENSMUST00000115454] [ENSMUST00000115455] [ENSMUST00000115456] [ENSMUST00000123439] [ENSMUST00000150901] [ENSMUST00000177234]

AlphaFold

P49817

Predicted Effect

probably benign
Transcript: ENSMUST00000007799
AA Change: D8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000007799
Gene: ENSMUSG00000007655
AA Change: D8G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115453

SMART Domains

Protein: ENSMUSP00000111113
Gene: ENSMUSG00000007655

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115454

SMART Domains

Protein: ENSMUSP00000111114
Gene: ENSMUSG00000007655

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115455
AA Change: D8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111115
Gene: ENSMUSG00000007655
AA Change: D8G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000115456
AA Change: D8G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000111116
Gene: ENSMUSG00000007655
AA Change: D8G

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: ENSMUST00000130505

Predicted Effect

probably damaging
Transcript: ENSMUST00000150901
AA Change: D8G

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

unknown
Transcript: ENSMUST00000177234
AA Change: D8G

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133065

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Btbd8	A	G	5: 107,651,631 (GRCm39)	T687A	possibly damaging	Het
C030048H21Rik	A	G	2: 26,145,875 (GRCm39)		probably null	Het
Celf6	G	A	9: 59,510,327 (GRCm39)	R103H	probably damaging	Het
Ctr9	A	G	7: 110,646,101 (GRCm39)	I698V	probably benign	Het
Cts6	G	C	13: 61,343,272 (GRCm39)	I316M	probably benign	Het
Dnajc13	C	A	9: 104,058,262 (GRCm39)	R1496L	probably damaging	Het
Dscam	A	G	16: 96,411,519 (GRCm39)	Y1786H	probably damaging	Het
Fcgbpl1	C	T	7: 27,852,281 (GRCm39)	T1268I	probably benign	Het
Itga2	C	G	13: 114,980,019 (GRCm39)	D1061H	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Klhl26	T	C	8: 70,904,194 (GRCm39)	Y538C	probably damaging	Het
Ltk	A	G	2: 119,586,094 (GRCm39)		probably null	Het
Med20	T	C	17: 47,929,842 (GRCm39)	V93A	probably benign	Het
Mmp9	G	T	2: 164,790,958 (GRCm39)	K115N	probably damaging	Het
Mroh5	A	T	15: 73,663,645 (GRCm39)	D339E	probably damaging	Het
Muc1	A	T	3: 89,138,870 (GRCm39)	D493V	probably damaging	Het
Mx1	G	T	16: 97,255,281 (GRCm39)	S113R	probably damaging	Het
Nlrp9c	T	A	7: 26,077,523 (GRCm39)	H698L	probably damaging	Het
Nol9	T	G	4: 152,142,293 (GRCm39)	L641R	probably damaging	Het
Pla2g4e	T	G	2: 120,016,863 (GRCm39)	H226P	possibly damaging	Het
Pou2f1	A	G	1: 165,722,575 (GRCm39)	F337L	probably damaging	Het
Prkn	A	T	17: 12,280,533 (GRCm39)	D463V	probably damaging	Het
Ptcd1	G	T	5: 145,096,316 (GRCm39)	A259E	probably benign	Het
Ptov1	T	C	7: 44,515,000 (GRCm39)	M204V	probably benign	Het
Rasal2	A	G	1: 157,003,402 (GRCm39)	F419S	possibly damaging	Het
Rbbp8nl	A	G	2: 179,922,764 (GRCm39)	S210P	probably benign	Het
Rgmb	C	A	17: 16,027,888 (GRCm39)	R277L	probably benign	Het
Snx2	A	G	18: 53,309,516 (GRCm39)	E22G	probably benign	Het
Snx30	A	T	4: 59,885,022 (GRCm39)	R221*	probably null	Het
Tmem143	C	T	7: 45,556,376 (GRCm39)	T97I	probably damaging	Het
Ttn	A	C	2: 76,644,991 (GRCm39)	F12955V	probably damaging	Het
Ubr2	C	T	17: 47,255,971 (GRCm39)		probably null	Het
Vmn1r203	T	A	13: 22,708,852 (GRCm39)	M211K	probably damaging	Het
Vmn2r121	G	A	X: 123,038,281 (GRCm39)	P580S	probably benign	Het
Zfp804b	A	T	5: 6,821,481 (GRCm39)	D491E	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
R2655:Cav1	UTSW	6	17,339,359 (GRCm39)	missense	probably damaging	1.00
R4416:Cav1	UTSW	6	17,339,248 (GRCm39)	missense	probably benign	0.36
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'- ACGTCCTAGCCAACTGAGAG -3'
(R):5'- TGGTCTCCTCTCCAAAAGGAAG -3'

Sequencing Primer
(F):5'- GTCCTAGCCAACTGAGAGCAGAAC -3'
(R):5'- GGAAGCCCTAAGACATTCCTAG -3'

Posted On

2015-07-21