Mutagenetix > Incidental Mutation

Incidental Mutation 'R6467:Cav1'

516637

Institutional Source

Beutler Lab

Gene Symbol

Cav1

Ensembl Gene

ENSMUSG00000007655

Gene Name

caveolin 1, caveolae protein

Synonyms

Cav-1, caveolin-1

MMRRC Submission

044600-MU

Accession Numbers

Essential gene?

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

Stock #

R6467 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

17306387-17341323 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 17308034 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 62 (D62G)

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

possibly damaging
Transcript: ENSMUST00000007799
AA Change: D62G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000007799
Gene: ENSMUSG00000007655
AA Change: D62G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115453
AA Change: D31G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111113
Gene: ENSMUSG00000007655
AA Change: D31G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115454
AA Change: D31G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111114
Gene: ENSMUSG00000007655
AA Change: D31G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115455
AA Change: D51G

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000111115
Gene: ENSMUSG00000007655
AA Change: D51G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115456
AA Change: D62G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000111116
Gene: ENSMUSG00000007655
AA Change: D62G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123439
AA Change: D31G

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130505

Predicted Effect

probably damaging
Transcript: ENSMUST00000150901
AA Change: D62G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131334

Predicted Effect

probably benign
Transcript: ENSMUST00000177234

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133065

Meta Mutation Damage Score

0.8427

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

99% (72/73)

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1b	T	C	15: 101,092,722 (GRCm39)	W122R	possibly damaging	Het
Adgrv1	C	T	13: 81,592,657 (GRCm39)	R4294H	probably benign	Het
Afdn	A	G	17: 14,024,315 (GRCm39)	T74A	probably damaging	Het
Aff3	T	A	1: 38,247,098 (GRCm39)	D829V	probably benign	Het
Akr1c12	T	C	13: 4,325,772 (GRCm39)	Q107R	probably benign	Het
Apc	T	A	18: 34,402,252 (GRCm39)	F131I	probably benign	Het
Atosb	A	T	4: 43,033,687 (GRCm39)	F489I	probably damaging	Het
Atp13a1	T	A	8: 70,259,424 (GRCm39)	L1036H	probably damaging	Het
BC035044	A	C	6: 128,867,855 (GRCm39)		probably benign	Het
C1rl	A	G	6: 124,485,535 (GRCm39)	D302G	probably benign	Het
C2cd6	A	C	1: 59,117,093 (GRCm39)	D133E	probably benign	Het
Cacna1c	T	A	6: 118,629,671 (GRCm39)	Y1061F	probably damaging	Het
Ccdc77	T	C	6: 120,327,242 (GRCm39)	M68V	probably damaging	Het
Cd55	A	T	1: 130,375,348 (GRCm39)		probably benign	Het
Cdc27	C	A	11: 104,413,602 (GRCm39)	A380S	probably damaging	Het
Cenpb	A	T	2: 131,021,477 (GRCm39)	I107K	probably damaging	Het
Cep135	T	G	5: 76,769,187 (GRCm39)	H612Q	possibly damaging	Het
Chd1l	A	T	3: 97,470,849 (GRCm39)	N815K	probably damaging	Het
Cldn20	C	T	17: 3,582,992 (GRCm39)	T55M	possibly damaging	Het
Depdc1a	A	T	3: 159,221,679 (GRCm39)	I208L	probably benign	Het
Dgkb	C	T	12: 38,134,223 (GRCm39)	A43V	possibly damaging	Het
Dgkb	C	T	12: 38,654,104 (GRCm39)	T741I	probably damaging	Het
Dhx16	A	G	17: 36,197,076 (GRCm39)	N653S	probably damaging	Het
Dnah5	T	A	15: 28,438,329 (GRCm39)	S3987T	probably benign	Het
Dnai4	T	C	4: 102,906,758 (GRCm39)	D685G	probably damaging	Het
Dst	T	A	1: 34,334,277 (GRCm39)	I4835N	probably damaging	Het
Esrrb	A	G	12: 86,561,114 (GRCm39)	I288V	probably damaging	Het
Fnta	C	T	8: 26,497,341 (GRCm39)	W169*	probably null	Het
Golga4	T	C	9: 118,365,860 (GRCm39)	L304P	probably damaging	Het
Hace1	A	G	10: 45,466,362 (GRCm39)		probably null	Het
Ino80b	G	T	6: 83,101,112 (GRCm39)		probably null	Het
Kcmf1	G	A	6: 72,820,082 (GRCm39)	R306C	probably damaging	Het
Lrrc46	G	A	11: 96,927,305 (GRCm39)	T92I	possibly damaging	Het
Man2b1	T	C	8: 85,824,076 (GRCm39)	V991A	possibly damaging	Het
Mga	A	G	2: 119,776,776 (GRCm39)	N1770S	probably damaging	Het
Mgat4e	T	C	1: 134,468,944 (GRCm39)	T367A	probably benign	Het
Mtr	A	G	13: 12,202,992 (GRCm39)	S1204P	probably damaging	Het
Myo15a	G	A	11: 60,417,487 (GRCm39)		probably null	Het
Nktr	T	C	9: 121,560,585 (GRCm39)	S74P	probably damaging	Het
Noct	T	C	3: 51,157,508 (GRCm39)	V282A	possibly damaging	Het
Nol11	A	T	11: 107,071,912 (GRCm39)	I227K	possibly damaging	Het
Nsd3	T	A	8: 26,130,646 (GRCm39)	S4T	probably damaging	Het
Or5m10b	T	A	2: 85,699,714 (GRCm39)	Y259*	probably null	Het
Or5p64	A	G	7: 107,855,109 (GRCm39)	S79P	probably damaging	Het
Pds5a	T	A	5: 65,809,782 (GRCm39)	L393F	probably damaging	Het
Prex2	C	T	1: 11,336,259 (GRCm39)	R1486C	probably damaging	Het
Rc3h2	T	C	2: 37,272,028 (GRCm39)	T768A	probably damaging	Het
Rin3	A	T	12: 102,335,584 (GRCm39)	E418D	probably benign	Het
Rnf214	G	T	9: 45,778,886 (GRCm39)	T586N	probably damaging	Het
Samd4b	A	G	7: 28,101,285 (GRCm39)	S667P	probably damaging	Het
Sec14l2	T	C	11: 4,061,161 (GRCm39)	Y100C	probably damaging	Het
Slc46a2	T	C	4: 59,914,077 (GRCm39)	E282G	probably benign	Het
Themis	A	C	10: 28,657,762 (GRCm39)	N110T	possibly damaging	Het
Tln1	C	A	4: 43,543,165 (GRCm39)	S1333I	probably benign	Het
Tmem53	T	C	4: 117,125,625 (GRCm39)	V224A	possibly damaging	Het
Tmtc4	T	A	14: 123,163,391 (GRCm39)	K664N	possibly damaging	Het
Tnni3k	T	C	3: 154,674,922 (GRCm39)	D201G	probably damaging	Het
Tnxb	A	G	17: 34,912,898 (GRCm39)	E1681G	probably damaging	Het
Trhde	A	T	10: 114,340,103 (GRCm39)	D567E	probably damaging	Het
Tsc2	T	C	17: 24,828,101 (GRCm39)	M788V	probably benign	Het
Ube3a	A	G	7: 58,926,650 (GRCm39)	Y476C	probably damaging	Het
Ubiad1	T	C	4: 148,520,682 (GRCm39)	N314S	possibly damaging	Het
Unc79	T	A	12: 103,139,771 (GRCm39)	N2375K	probably damaging	Het
Vmn2r107	A	T	17: 20,595,939 (GRCm39)	I831F	probably damaging	Het
Vwa3b	T	A	1: 37,124,367 (GRCm39)	C322S	probably benign	Het
Wnk1	A	T	6: 119,939,916 (GRCm39)	H238Q	probably benign	Het
Wnk2	A	G	13: 49,300,081 (GRCm39)	Y210H	probably damaging	Het
Wwc2	T	C	8: 48,304,943 (GRCm39)	D894G	unknown	Het
Yes1	T	A	5: 32,810,381 (GRCm39)	F180Y	probably damaging	Het
Yju2b	T	C	8: 84,985,318 (GRCm39)	E317G	probably benign	Het
Zbtb46	T	C	2: 181,033,062 (GRCm39)	Y533C	probably damaging	Het
Zfp57	T	C	17: 37,316,942 (GRCm39)	S7P	possibly damaging	Het
Zzef1	T	C	11: 72,802,090 (GRCm39)		probably null	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
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
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'- CCAGGCTGACTCTTGACTCTTG -3'
(R):5'- AAATTCCTGCTGAACTTGCCAG -3'

Sequencing Primer
(F):5'- AGGCTGACTCTTGACTCTTGTTTTTC -3'
(R):5'- CTGAACTTGCCAGCAGGAAG -3'

Posted On

2018-05-21