Mutagenetix > Incidental Mutation

Incidental Mutation 'R4660:Cavin2'

352724

Institutional Source

Beutler Lab

Gene Symbol

Cavin2

Ensembl Gene

ENSMUSG00000045954

Gene Name

caveolae associated 2

Synonyms

cavin 2, Sdpr

MMRRC Submission

041920-MU

Accession Numbers

Essential gene?

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

Stock #

R4660 (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 51340510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 396 (S396P)

Ref Sequence

ENSEMBL: ENSMUSP00000055694 (fasta)

Gene Model

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

AlphaFold

Q63918

Predicted Effect

probably benign
Transcript: ENSMUST00000051572
AA Change: S396P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000055694
Gene: ENSMUSG00000045954
AA Change: S396P

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

0.0603

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

96% (102/106)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra1d	T	C	2: 131,403,062 (GRCm39)	T343A	probably damaging	Het
Angptl4	A	T	17: 33,996,249 (GRCm39)		probably benign	Het
Antxr2	A	T	5: 98,151,913 (GRCm39)		probably null	Het
Ap1b1	T	A	11: 4,966,760 (GRCm39)	V145E	probably damaging	Het
Asns	G	T	6: 7,678,012 (GRCm39)	N355K	probably benign	Het
Asxl3	A	G	18: 22,649,534 (GRCm39)	T508A	probably benign	Het
B4galt7	T	A	13: 55,752,111 (GRCm39)	V54D	possibly damaging	Het
Bach2	C	T	4: 32,562,777 (GRCm39)	P415S	probably benign	Het
Bbs9	G	A	9: 22,490,063 (GRCm39)	R278Q	probably benign	Het
Blzf1	C	T	1: 164,134,062 (GRCm39)		probably benign	Het
Btd	A	T	14: 31,389,760 (GRCm39)	T494S	probably benign	Het
Casp9	C	T	4: 141,540,934 (GRCm39)	T434I	probably benign	Het
Ccnk	C	T	12: 108,168,575 (GRCm39)		probably benign	Het
Cldn8	G	A	16: 88,359,296 (GRCm39)	H210Y	probably benign	Het
Clip1	G	A	5: 123,717,437 (GRCm39)	T1284I	probably damaging	Het
Coch	T	C	12: 51,642,268 (GRCm39)	V80A	probably benign	Het
Cttnbp2	A	G	6: 18,406,536 (GRCm39)	S1052P	probably benign	Het
Cyp2j7	C	T	4: 96,083,579 (GRCm39)	R457K	probably benign	Het
Dalrd3	T	C	9: 108,447,568 (GRCm39)	S129P	probably benign	Het
Ddx10	A	G	9: 53,147,698 (GRCm39)		probably null	Het
Dnah7b	A	T	1: 46,328,696 (GRCm39)	T3143S	probably damaging	Het
Dynlt1b	A	G	17: 6,699,279 (GRCm39)	T10A	probably benign	Het
Eif2s2	G	A	2: 154,730,189 (GRCm39)	T36I	probably benign	Het
Fam118b	A	T	9: 35,146,551 (GRCm39)	H105Q	possibly damaging	Het
Galntl5	T	A	5: 25,408,377 (GRCm39)	I250N	probably damaging	Het
Gm11544	C	T	11: 94,736,306 (GRCm39)		noncoding transcript	Het
Gm5709	C	T	3: 59,526,124 (GRCm39)		noncoding transcript	Het
Golgb1	T	A	16: 36,707,980 (GRCm39)	I107N	probably damaging	Het
Gpld1	T	C	13: 25,166,586 (GRCm39)		probably null	Het
Grik1	T	A	16: 87,720,019 (GRCm39)	T768S	probably damaging	Het
H2-T23	T	G	17: 36,341,108 (GRCm39)	Q349P	probably damaging	Het
Ing3	A	T	6: 21,973,710 (GRCm39)		probably benign	Het
Iqgap3	T	G	3: 88,027,483 (GRCm39)	L702R	probably damaging	Het
Itga8	A	G	2: 12,270,069 (GRCm39)	V139A	probably damaging	Het
Jam2	G	A	16: 84,609,840 (GRCm39)	V151M	probably damaging	Het
Kbtbd12	T	C	6: 88,594,772 (GRCm39)	I353V	probably benign	Het
Kif27	T	C	13: 58,471,730 (GRCm39)	E786G	probably damaging	Het
Lingo4	T	A	3: 94,310,672 (GRCm39)	S537T	probably benign	Het
Lipo3	C	T	19: 33,598,360 (GRCm39)		probably benign	Het
Lrrc3	G	T	10: 77,729,866 (GRCm39)		probably benign	Het
Ltbp3	T	A	19: 5,798,814 (GRCm39)		probably null	Het
Lyg1	T	A	1: 37,985,942 (GRCm39)		probably benign	Het
Mcm9	T	C	10: 53,424,623 (GRCm39)	I656V	probably benign	Het
Mfsd8	T	A	3: 40,776,372 (GRCm39)	I427F	probably benign	Het
Mga	T	A	2: 119,769,104 (GRCm39)		probably benign	Het
Miga1	A	G	3: 151,993,155 (GRCm39)	L422P	probably damaging	Het
Msantd3	A	G	4: 48,552,536 (GRCm39)	I42V	probably benign	Het
Mybbp1a	T	C	11: 72,336,538 (GRCm39)	V510A	probably benign	Het
Nccrp1	G	T	7: 28,245,760 (GRCm39)	P135T	probably damaging	Het
Neb	T	A	2: 52,145,600 (GRCm39)	M2975L	possibly damaging	Het
Nfxl1	A	T	5: 72,710,011 (GRCm39)	I171N	probably damaging	Het
Odad2	A	G	18: 7,211,609 (GRCm39)	V755A	possibly damaging	Het
Or10q3	T	C	19: 11,848,412 (GRCm39)	H56R	possibly damaging	Het
Or12j5	A	T	7: 140,083,933 (GRCm39)	F146L	probably benign	Het
Or13a19	T	C	7: 139,903,325 (GRCm39)	F238L	possibly damaging	Het
Otop1	T	G	5: 38,457,368 (GRCm39)	S376A	possibly damaging	Het
Pdgfra	T	C	5: 75,322,932 (GRCm39)	V10A	possibly damaging	Het
Pgs1	T	C	11: 117,910,503 (GRCm39)	V538A	probably damaging	Het
Ppa2	A	T	3: 133,032,445 (GRCm39)	T97S	probably damaging	Het
Pramel22	T	A	4: 143,380,847 (GRCm39)	Y392F	probably benign	Het
Pramel26	A	G	4: 143,538,435 (GRCm39)	S179P	probably benign	Het
Prdm10	G	A	9: 31,238,624 (GRCm39)	C172Y	probably damaging	Het
Prrc2c	G	A	1: 162,508,464 (GRCm39)	P1091L	probably damaging	Het
Pthlh	G	A	6: 147,158,796 (GRCm39)	R55C	probably damaging	Het
Ptpn9	A	T	9: 56,943,782 (GRCm39)	T105S	probably benign	Het
Rundc1	T	A	11: 101,324,830 (GRCm39)	V512E	possibly damaging	Het
Scrib	G	A	15: 75,937,185 (GRCm39)	S307L	probably damaging	Het
Sec23ip	A	G	7: 128,352,010 (GRCm39)	S26G	probably null	Het
Sec61a2	A	G	2: 5,878,504 (GRCm39)		probably benign	Het
Sema3c	T	C	5: 17,877,511 (GRCm39)	V206A	probably damaging	Het
Sgk2	C	T	2: 162,839,763 (GRCm39)	H124Y	possibly damaging	Het
Slc26a6	C	T	9: 108,738,540 (GRCm39)	T592I	probably damaging	Het
Slc5a11	T	C	7: 122,864,486 (GRCm39)	Y361H	probably damaging	Het
Smc6	T	C	12: 11,324,008 (GRCm39)	V51A	probably damaging	Het
Stab1	A	T	14: 30,876,872 (GRCm39)	N817K	possibly damaging	Het
Swt1	A	T	1: 151,283,348 (GRCm39)	D336E	probably benign	Het
Taf13	T	A	3: 108,480,293 (GRCm39)		probably benign	Het
Tmub2	T	C	11: 102,175,845 (GRCm39)		probably benign	Het
Tnf	A	G	17: 35,419,156 (GRCm39)	S209P	probably benign	Het
Try10	A	G	6: 41,334,761 (GRCm39)	Y229C	probably damaging	Het
Ttbk1	G	T	17: 46,788,714 (GRCm39)	Y183*	probably null	Het
Ttc17	A	T	2: 94,194,774 (GRCm39)	I533N	possibly damaging	Het
Tubb6	C	T	18: 67,535,016 (GRCm39)	P305L	probably damaging	Het
Tulp3	G	A	6: 128,300,017 (GRCm39)		probably benign	Het
Usp9x	A	G	X: 12,989,747 (GRCm39)	R776G	possibly damaging	Het
Virma	T	C	4: 11,513,505 (GRCm39)	V453A	probably damaging	Het
Vmn2r103	A	T	17: 20,032,077 (GRCm39)	N617I	probably damaging	Het
Xirp1	G	T	9: 119,846,058 (GRCm39)	L942M	probably damaging	Het
Zc3h7b	T	G	15: 81,676,451 (GRCm39)	V731G	probably benign	Het
Zfp534	C	T	4: 147,759,175 (GRCm39)	G498D	probably benign	Het
Zfp639	T	C	3: 32,574,679 (GRCm39)	Y435H	probably damaging	Het
Zxdc	A	G	6: 90,355,820 (GRCm39)	H443R	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
R4524:Cavin2	UTSW	1	51,340,229 (GRCm39)	missense	probably benign	0.25
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'- AGAGGGTCTTTCTGAAGCATC -3'
(R):5'- TCCCATTGAGGCTACTGTACG -3'

Sequencing Primer
(F):5'- TGAAGCATCCCTCCCCAGTG -3'
(R):5'- CTACTGTACGGTCAGTGATTAAGGCC -3'

Posted On

2015-10-08