Mutagenetix > Incidental Mutation

Incidental Mutation 'R4524:Cavin2'

334342

Institutional Source

Beutler Lab

Gene Symbol

Cavin2

Ensembl Gene

ENSMUSG00000045954

Gene Name

caveolae associated 2

Synonyms

cavin 2, Sdpr

MMRRC Submission

041766-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.153) question?

Stock #

R4524 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51328285-51342119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51340229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 302 (V302A)

Ref Sequence

ENSEMBL: ENSMUSP00000055694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051572]

AlphaFold

Q63918

Predicted Effect

probably benign
Transcript: ENSMUST00000051572
AA Change: V302A

PolyPhen 2 Score 0.254 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000055694
Gene: ENSMUSG00000045954
AA Change: V302A

Domain	Start	End	E-Value	Type
low complexity region	23	37	N/A	INTRINSIC
Pfam:PTRF_SDPR	52	294	3.8e-96	PFAM
low complexity region	370	376	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189867

Meta Mutation Damage Score

0.0923

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (58/60)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a calcium-independent phospholipid-binding protein whose expression increases in serum-starved cells. This protein is a substrate for protein kinase C (PKC) phosphorylation and recruits polymerase I and transcript release factor (PTRF) to caveolae. Removal of this protein causes caveolae loss and its over-expression results in caveolae deformation and membrane tubulation.[provided by RefSeq, Sep 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal caveolae formation in lung and adipose endothelia and adipocytes with gaps in the lung capillaries. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,342,076 (GRCm39)	S962G	probably benign	Het
Ackr2	T	C	9: 121,738,609 (GRCm39)	V328A	probably benign	Het
Ang4	G	T	14: 52,001,605 (GRCm39)	C114*	probably null	Het
Arid1b	A	T	17: 5,147,895 (GRCm39)	Q599L	possibly damaging	Het
Ascc3	A	G	10: 50,536,766 (GRCm39)	N700D	probably benign	Het
Atrnl1	A	G	19: 57,618,738 (GRCm39)	D152G	probably damaging	Het
Birc6	C	T	17: 74,948,772 (GRCm39)	T3067I	probably damaging	Het
Bmpr2	T	C	1: 59,906,571 (GRCm39)	S555P	probably benign	Het
Brox	A	T	1: 183,074,045 (GRCm39)	L68I	possibly damaging	Het
C130026L21Rik	A	G	5: 111,733,738 (GRCm39)		noncoding transcript	Het
Cbln3	A	T	14: 56,121,522 (GRCm39)	C41*	probably null	Het
Ccdc88c	G	T	12: 100,879,591 (GRCm39)	S1843R	possibly damaging	Het
Clec4a2	T	A	6: 123,102,043 (GRCm39)	I66N	probably damaging	Het
Cybc1	A	G	11: 121,114,934 (GRCm39)		probably benign	Het
Ddx27	T	A	2: 166,869,640 (GRCm39)	C358*	probably null	Het
Ehbp1	A	T	11: 22,101,843 (GRCm39)	D228E	probably damaging	Het
Emc7	T	C	2: 112,285,609 (GRCm39)	V66A	probably damaging	Het
Fbxo41	A	G	6: 85,461,024 (GRCm39)	I228T	probably damaging	Het
Furin	T	C	7: 80,048,382 (GRCm39)		probably null	Het
Gm3739	T	A	14: 18,505,267 (GRCm39)	K86*	probably null	Het
Gmpr	A	T	13: 45,683,215 (GRCm39)	E162V	probably damaging	Het
Gtpbp4	A	T	13: 9,024,330 (GRCm39)	V541D	probably benign	Het
Myh2	G	T	11: 67,067,096 (GRCm39)	G184W	probably damaging	Het
Nop2	G	T	6: 125,110,515 (GRCm39)	R47L	probably damaging	Het
Nrg4	T	G	9: 55,135,186 (GRCm39)		probably benign	Het
Ntng1	A	G	3: 109,842,312 (GRCm39)	S154P	probably damaging	Het
Or14a257	G	T	7: 86,138,034 (GRCm39)	H242N	probably damaging	Het
Or8b12	T	C	9: 37,658,162 (GRCm39)	L244S	possibly damaging	Het
Pde7a	T	A	3: 19,285,140 (GRCm39)	H349L	possibly damaging	Het
Pds5b	A	T	5: 150,711,781 (GRCm39)	D913V	probably damaging	Het
Plce1	T	C	19: 38,512,763 (GRCm39)	S21P	possibly damaging	Het
Ralgapb	C	A	2: 158,279,226 (GRCm39)	T104N	probably benign	Het
Rapgef1	A	G	2: 29,569,258 (GRCm39)	I59V	probably benign	Het
Rpl10l	T	C	12: 66,330,512 (GRCm39)	D207G	probably benign	Het
Rsph6a	C	T	7: 18,799,970 (GRCm39)	H534Y	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Shcbp1	T	C	8: 4,789,193 (GRCm39)	Y542C	probably damaging	Het
Shisa8	C	G	15: 82,096,163 (GRCm39)	V151L	possibly damaging	Het
Slc7a8	G	A	14: 54,975,059 (GRCm39)	T190I	probably damaging	Het
Spire2	T	A	8: 124,086,974 (GRCm39)	S382T	probably benign	Het
Stard9	A	G	2: 120,526,926 (GRCm39)	D1061G	probably damaging	Het
Tex44	T	G	1: 86,355,298 (GRCm39)	D402E	probably benign	Het
Thbs1	G	T	2: 117,953,460 (GRCm39)	R959L	probably damaging	Het
Tiam2	A	G	17: 3,564,986 (GRCm39)	D1408G	probably damaging	Het
Trrap	C	T	5: 144,762,131 (GRCm39)	T2352I	probably benign	Het
Tspyl5	T	A	15: 33,687,738 (GRCm39)	E69V	probably damaging	Het
Ubqlnl	C	T	7: 103,798,925 (GRCm39)	V191M	probably benign	Het
Washc1	C	T	17: 66,426,087 (GRCm39)	Q462*	probably null	Het
Xdh	C	A	17: 74,205,339 (GRCm39)	G1042V	probably damaging	Het

Other mutations in Cavin2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00926:Cavin2	APN	1	51,340,036 (GRCm39)	missense	probably damaging	1.00
IGL01951:Cavin2	APN	1	51,328,570 (GRCm39)	missense	possibly damaging	0.82
R1649:Cavin2	UTSW	1	51,339,939 (GRCm39)	missense	probably benign	0.09
R1676:Cavin2	UTSW	1	51,340,330 (GRCm39)	missense	probably benign	0.05
R1966:Cavin2	UTSW	1	51,328,801 (GRCm39)	missense	probably damaging	1.00
R3038:Cavin2	UTSW	1	51,340,416 (GRCm39)	missense	possibly damaging	0.95
R3440:Cavin2	UTSW	1	51,340,565 (GRCm39)	missense	probably damaging	1.00
R4128:Cavin2	UTSW	1	51,340,581 (GRCm39)	makesense	probably null
R4660:Cavin2	UTSW	1	51,340,510 (GRCm39)	missense	probably benign	0.00
R4662:Cavin2	UTSW	1	51,340,510 (GRCm39)	missense	probably benign	0.00
R5091:Cavin2	UTSW	1	51,340,398 (GRCm39)	missense	probably benign	0.01
R5296:Cavin2	UTSW	1	51,329,029 (GRCm39)	critical splice donor site	probably null
R5844:Cavin2	UTSW	1	51,328,998 (GRCm39)	missense	probably damaging	1.00
R6141:Cavin2	UTSW	1	51,340,097 (GRCm39)	missense	probably damaging	1.00
R6177:Cavin2	UTSW	1	51,328,654 (GRCm39)	missense	probably damaging	1.00
R6252:Cavin2	UTSW	1	51,328,828 (GRCm39)	missense	probably benign	0.30
R7128:Cavin2	UTSW	1	51,328,579 (GRCm39)	missense	possibly damaging	0.57
R7583:Cavin2	UTSW	1	51,328,777 (GRCm39)	missense	possibly damaging	0.93
R8051:Cavin2	UTSW	1	51,340,283 (GRCm39)	missense	probably benign
R9573:Cavin2	UTSW	1	51,328,795 (GRCm39)	missense	probably damaging	0.99
X0028:Cavin2	UTSW	1	51,340,261 (GRCm39)	missense	probably benign	0.07
Z1176:Cavin2	UTSW	1	51,340,315 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- AGCCTCAAGAAAGTCGATAGCC -3'
(R):5'- TCAGATCCGCATTACTGCCC -3'

Sequencing Primer
(F):5'- GTCGATAGCCTCAAGAAAGCGTTTTC -3'
(R):5'- CCCACGGCTGAGTTGTTC -3'

Posted On

2015-08-18