Mutagenetix > Incidental Mutation

Incidental Mutation 'R1649:Cavin2'

174068

Institutional Source

Beutler Lab

Gene Symbol

Cavin2

Ensembl Gene

ENSMUSG00000045954

Gene Name

caveolae associated 2

Synonyms

cavin 2, Sdpr

MMRRC Submission

039685-MU

Accession Numbers

Essential gene?

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

Stock #

R1649 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51328285-51342119 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51339939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 205 (D205E)

Ref Sequence

ENSEMBL: ENSMUSP00000055694 (fasta)

Gene Model

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

AlphaFold

Q63918

Predicted Effect

probably benign
Transcript: ENSMUST00000051572
AA Change: D205E

PolyPhen 2 Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000055694
Gene: ENSMUSG00000045954
AA Change: D205E

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

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1a1	T	A	4: 116,495,217 (GRCm39)	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,541,371 (GRCm39)	V255A	probably benign	Het
Ambn	T	A	5: 88,612,340 (GRCm39)	M172K	probably benign	Het
Arhgef18	A	G	8: 3,439,094 (GRCm39)		probably benign	Het
BC034090	T	C	1: 155,101,319 (GRCm39)	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,959,122 (GRCm39)	D707E	probably benign	Het
C6	T	C	15: 4,764,739 (GRCm39)	L145P	possibly damaging	Het
Cav3	T	A	6: 112,449,207 (GRCm39)	L75Q	probably damaging	Het
Cdadc1	T	C	14: 59,811,242 (GRCm39)	T423A	probably damaging	Het
Cep120	A	T	18: 53,857,648 (GRCm39)	H272Q	probably damaging	Het
Chd9	A	T	8: 91,659,229 (GRCm39)	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,460,228 (GRCm39)		probably benign	Het
Cramp1	G	T	17: 25,202,217 (GRCm39)	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,966,943 (GRCm39)	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,158,366 (GRCm39)	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,545,663 (GRCm39)		probably benign	Het
Ern2	G	A	7: 121,776,623 (GRCm39)	P366S	probably damaging	Het
Gm1527	T	C	3: 28,952,880 (GRCm39)	I60T	probably damaging	Het
Gse1	T	C	8: 121,305,254 (GRCm39)		probably benign	Het
Ildr1	T	C	16: 36,528,681 (GRCm39)	L42P	probably damaging	Het
Itih2	G	A	2: 10,110,546 (GRCm39)	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309 (GRCm39)	P357Q	probably damaging	Het
Kitl	A	G	10: 99,899,976 (GRCm39)	T94A	probably benign	Het
Klri1	C	T	6: 129,675,204 (GRCm39)	M185I	probably benign	Het
Lsamp	A	T	16: 41,775,661 (GRCm39)	M171L	probably benign	Het
Macf1	T	G	4: 123,377,846 (GRCm39)	I1460L	probably damaging	Het
Map1b	C	G	13: 99,652,986 (GRCm39)	V4L	probably benign	Het
Mboat7	A	T	7: 3,688,817 (GRCm39)	V237D	probably benign	Het
Mctp2	A	T	7: 71,811,006 (GRCm39)	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,497,806 (GRCm39)	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,830,301 (GRCm39)	I205N	probably damaging	Het
Nsd2	T	C	5: 34,011,984 (GRCm39)	V264A	probably damaging	Het
Oacyl	C	T	18: 65,883,167 (GRCm39)	T582I	probably damaging	Het
Olfm1	A	T	2: 28,119,279 (GRCm39)	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,249,422 (GRCm39)	E180K	probably damaging	Het
Or14j6	T	C	17: 38,215,060 (GRCm39)	F208L	probably benign	Het
Or2ad1	A	T	13: 21,326,912 (GRCm39)	L105Q	probably damaging	Het
Or8g17	T	G	9: 38,930,776 (GRCm39)	Q20H	probably benign	Het
Parp4	T	A	14: 56,827,885 (GRCm39)	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,648,666 (GRCm39)	N598K	probably damaging	Het
Piezo2	C	A	18: 63,250,743 (GRCm39)	W452L	probably benign	Het
Plec	C	A	15: 76,090,011 (GRCm39)	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,191,320 (GRCm39)	Y144H	probably damaging	Het
Ptgdr	T	C	14: 45,095,959 (GRCm39)	H251R	probably benign	Het
Ptpro	T	A	6: 137,421,015 (GRCm39)	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,726,573 (GRCm39)	D247G	probably damaging	Het
Robo2	T	C	16: 73,695,889 (GRCm39)	E1418G	probably benign	Het
Rtp3	T	C	9: 110,815,772 (GRCm39)	T198A	probably benign	Het
Sec16a	A	T	2: 26,315,536 (GRCm39)	V1767D	probably damaging	Het
Septin14	T	C	5: 129,774,819 (GRCm39)	N119D	probably benign	Het
Serpina5	A	T	12: 104,071,484 (GRCm39)	T364S	possibly damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,716,348 (GRCm39)	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,586,010 (GRCm39)	G443C	probably damaging	Het
Spag9	T	A	11: 93,999,278 (GRCm39)		probably null	Het
Sptbn1	T	C	11: 30,087,301 (GRCm39)	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,237,540 (GRCm39)	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,587,103 (GRCm39)	T184S	probably damaging	Het
Tpi1	A	T	6: 124,789,891 (GRCm39)		probably null	Het
Tssk5	T	C	15: 76,258,003 (GRCm39)	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,736,629 (GRCm39)	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,969,788 (GRCm39)	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,049,623 (GRCm39)	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,829,224 (GRCm39)	V927E	probably damaging	Het
Zfp618	T	C	4: 63,013,774 (GRCm39)	F213S	probably damaging	Het
Zfp759	T	A	13: 67,287,668 (GRCm39)	N406K	probably benign	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
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
R4524:Cavin2	UTSW	1	51,340,229 (GRCm39)	missense	probably benign	0.25
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'- TGTGCATTGCCTAGAACACAAACCC -3'
(R):5'- GCTTCAGAAAGACCCTCTGTGAACG -3'

Sequencing Primer
(F):5'- CCCAAGTTACAGCAGTTCAGG -3'
(R):5'- GAGCTTTTCCCAGAAGATGC -3'

Posted On

2014-04-24