Mutagenetix > Incidental Mutation

Incidental Mutation 'R0045:Cds2'

32741

Institutional Source

Beutler Lab

Gene Symbol

Cds2

Ensembl Gene

ENSMUSG00000058793

Gene Name

CDP-diacylglycerol synthase 2

Synonyms

D2Wsu127e, 5730450N06Rik, 5730460C18Rik

MMRRC Submission

038339-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0045 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

132105068-132153970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 132147075 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Valine at position 402 (G402V)

Ref Sequence

ENSEMBL: ENSMUSP00000099470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089461] [ENSMUST00000103181]

AlphaFold

Q99L43

Predicted Effect

probably benign
Transcript: ENSMUST00000089461
AA Change: G385V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793
AA Change: G385V

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_1	52	382	5e-90	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103181
AA Change: G402V

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793
AA Change: G402V

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_1	69	399	7.6e-90	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000138194
AA Change: G151V

SMART Domains

Protein: ENSMUSP00000121769
Gene: ENSMUSG00000058793
AA Change: G151V

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_1	3	126	8.7e-34	PFAM

Meta Mutation Damage Score

0.0982

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.1%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Breakdown products of phosphoinositides are ubiquitous second messengers that function downstream of many G protein-coupled receptors and tyrosine kinases regulating cell growth, calcium metabolism, and protein kinase C activity. This gene encodes an enzyme which regulates the amount of phosphatidylinositol available for signaling by catalyzing the conversion of phosphatidic acid to CDP-diacylglycerol. This enzyme is an integral membrane protein localized to two subcellular domains, the matrix side of the inner mitochondrial membrane where it is thought to be involved in the synthesis of phosphatidylglycerol and cardiolipin and the cytoplasmic side of the endoplasmic reticulum where it functions in phosphatidylinositol biosynthesis. Two genes encoding this enzyme have been identified in humans, one mapping to human chromosome 4q21 and a second to 20p13. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a lethal phenotype. Heterozygotes show a distorted lymphocyte distribution and enhanced sensorimotor gating. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	T	C	5: 124,220,148 (GRCm39)	N299S	probably damaging	Het
Abi3	A	G	11: 95,723,541 (GRCm39)	*368R	probably null	Het
Agbl1	T	C	7: 76,348,588 (GRCm39)		probably null	Het
Ap3b2	T	C	7: 81,115,941 (GRCm39)	D650G	possibly damaging	Het
Arhgap30	A	G	1: 171,235,998 (GRCm39)	S791G	probably benign	Het
Arvcf	T	A	16: 18,222,208 (GRCm39)	L722Q	probably benign	Het
Ascc3	C	T	10: 50,594,498 (GRCm39)	R1198*	probably null	Het
Atf2	G	T	2: 73,660,200 (GRCm39)	T189N	probably benign	Het
Atf7ip	A	G	6: 136,536,814 (GRCm39)	K16E	probably damaging	Het
Atg9b	G	T	5: 24,592,396 (GRCm39)	Q621K	probably damaging	Het
Atp12a	G	A	14: 56,610,330 (GRCm39)	E234K	probably damaging	Het
C8a	T	C	4: 104,684,012 (GRCm39)	K368E	probably benign	Het
Ccdc168	T	C	1: 44,096,365 (GRCm39)	K1578E	probably benign	Het
Cdh23	T	C	10: 60,366,757 (GRCm39)	Y241C	probably damaging	Het
Cdon	G	A	9: 35,398,103 (GRCm39)	S940N	probably benign	Het
Cog6	T	C	3: 52,900,171 (GRCm39)		probably null	Het
Commd10	T	C	18: 47,100,903 (GRCm39)	S114P	possibly damaging	Het
Dram2	T	C	3: 106,478,133 (GRCm39)	V155A	possibly damaging	Het
Egr2	T	A	10: 67,376,310 (GRCm39)	V252E	probably benign	Het
Exoc3l	C	T	8: 106,020,317 (GRCm39)	V203M	probably damaging	Het
Fsip1	C	A	2: 118,078,773 (GRCm39)		probably null	Het
Gm10840	C	A	11: 106,051,926 (GRCm39)		probably benign	Het
Gpr37l1	A	G	1: 135,088,883 (GRCm39)	L394P	probably damaging	Het
Gsap	T	C	5: 21,431,830 (GRCm39)	M243T	possibly damaging	Het
Hsd3b5	T	A	3: 98,526,460 (GRCm39)	I329F	probably benign	Het
Htra1	T	A	7: 130,563,262 (GRCm39)	S164R	probably damaging	Het
Il17b	G	A	18: 61,823,315 (GRCm39)	V50M	probably damaging	Het
Itga4	A	T	2: 79,131,375 (GRCm39)	Y581F	probably damaging	Het
Jmjd8	A	G	17: 26,048,255 (GRCm39)	E92G	probably damaging	Het
Kcnq4	T	A	4: 120,555,152 (GRCm39)	D677V	probably damaging	Het
Klhl42	A	G	6: 146,993,666 (GRCm39)	T213A	probably benign	Het
Lcn5	T	C	2: 25,550,710 (GRCm39)	S133P	probably damaging	Het
Liph	T	C	16: 21,786,803 (GRCm39)	Y271C	probably damaging	Het
Lpcat3	T	C	6: 124,678,437 (GRCm39)	I228T	probably benign	Het
Lrrd1	A	G	5: 3,916,418 (GRCm39)	K812E	possibly damaging	Het
Ltbp2	T	C	12: 84,860,062 (GRCm39)	T631A	probably damaging	Het
Ltbp2	G	A	12: 84,856,361 (GRCm39)	T701I	probably damaging	Het
Mavs	G	A	2: 131,080,751 (GRCm39)	R13Q	probably damaging	Het
Mtor	C	G	4: 148,549,406 (GRCm39)	H597D	probably benign	Het
Muc5b	T	A	7: 141,410,555 (GRCm39)	H1309Q	unknown	Het
Myl3	A	C	9: 110,596,997 (GRCm39)	D119A	probably damaging	Het
Nnat	A	T	2: 157,402,408 (GRCm39)		probably benign	Het
Or14c40	T	C	7: 86,313,548 (GRCm39)	L226S	possibly damaging	Het
Or2ag19	T	A	7: 106,444,596 (GRCm39)	Y259*	probably null	Het
Or5h17	G	A	16: 58,820,854 (GRCm39)	D269N	probably benign	Het
Or7e175	A	T	9: 20,048,487 (GRCm39)	Q25L	probably benign	Het
Pclo	C	T	5: 14,589,485 (GRCm39)	A595V	unknown	Het
Pcsk6	T	A	7: 65,612,676 (GRCm39)	C315S	probably damaging	Het
Pkd2	T	A	5: 104,603,671 (GRCm39)		probably benign	Het
Ppp2r3c	T	A	12: 55,340,606 (GRCm39)	I155F	probably damaging	Het
Rapgef4	A	G	2: 72,029,122 (GRCm39)	H398R	possibly damaging	Het
Ripor2	A	G	13: 24,878,209 (GRCm39)	D328G	probably damaging	Het
Rpgrip1	A	T	14: 52,378,601 (GRCm39)	T509S	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,622 (GRCm39)	I1032T	probably damaging	Het
Slc25a13	A	T	6: 6,109,277 (GRCm39)	S362T	probably benign	Het
Stk35	A	T	2: 129,642,488 (GRCm39)	R10*	probably null	Het
Tal1	A	G	4: 114,925,762 (GRCm39)	D277G	probably damaging	Het
Tecta	G	A	9: 42,286,487 (GRCm39)	T723I	probably damaging	Het
Trp53bp1	A	C	2: 121,034,978 (GRCm39)	V103G	probably benign	Het
Trpv4	A	G	5: 114,774,518 (GRCm39)	S189P	probably benign	Het
Ttll5	T	G	12: 85,926,133 (GRCm39)		probably benign	Het
Usp8	A	G	2: 126,584,143 (GRCm39)	T451A	probably benign	Het
Vac14	G	A	8: 111,363,584 (GRCm39)	D340N	probably benign	Het
Vars1	C	A	17: 35,217,042 (GRCm39)	A471S	probably benign	Het
Vars1	A	T	17: 35,229,595 (GRCm39)	H404L	probably damaging	Het
Vmn2r70	T	C	7: 85,215,252 (GRCm39)	N94S	probably damaging	Het
Vpreb1b	T	C	16: 17,798,631 (GRCm39)	L39P	probably damaging	Het
Vps13a	A	T	19: 16,618,174 (GRCm39)	L693*	probably null	Het
Wapl	A	G	14: 34,455,751 (GRCm39)	I176V	probably benign	Het
Wdr31	G	T	4: 62,382,270 (GRCm39)	L4I	possibly damaging	Het

Other mutations in Cds2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00433:Cds2	APN	2	132,139,213 (GRCm39)	missense	probably damaging	1.00
IGL00434:Cds2	APN	2	132,135,271 (GRCm39)	missense	probably damaging	0.99
IGL00771:Cds2	APN	2	132,146,272 (GRCm39)	splice site	probably benign
IGL00984:Cds2	APN	2	132,140,441 (GRCm39)	missense	probably benign	0.02
IGL02041:Cds2	APN	2	132,136,363 (GRCm39)	missense	possibly damaging	0.94
sugarless	UTSW	2	132,140,403 (GRCm39)	missense	probably damaging	1.00
R0045:Cds2	UTSW	2	132,147,075 (GRCm39)	missense	possibly damaging	0.67
R0452:Cds2	UTSW	2	132,140,399 (GRCm39)	missense	probably damaging	0.99
R0455:Cds2	UTSW	2	132,127,887 (GRCm39)	critical splice donor site	probably null
R0593:Cds2	UTSW	2	132,139,296 (GRCm39)	unclassified	probably benign
R0831:Cds2	UTSW	2	132,127,887 (GRCm39)	critical splice donor site	probably null
R1053:Cds2	UTSW	2	132,147,180 (GRCm39)	missense	probably damaging	1.00
R1669:Cds2	UTSW	2	132,137,439 (GRCm39)	splice site	probably null
R1740:Cds2	UTSW	2	132,144,133 (GRCm39)	missense	possibly damaging	0.63
R1859:Cds2	UTSW	2	132,144,115 (GRCm39)	missense	probably damaging	1.00
R4125:Cds2	UTSW	2	132,139,191 (GRCm39)	missense	probably benign	0.00
R4126:Cds2	UTSW	2	132,139,191 (GRCm39)	missense	probably benign	0.00
R4128:Cds2	UTSW	2	132,139,191 (GRCm39)	missense	probably benign	0.00
R4352:Cds2	UTSW	2	132,105,365 (GRCm39)	start codon destroyed	probably null	0.37
R4467:Cds2	UTSW	2	132,136,366 (GRCm39)	nonsense	probably null
R4698:Cds2	UTSW	2	132,146,873 (GRCm39)	missense	probably damaging	0.97
R4704:Cds2	UTSW	2	132,142,522 (GRCm39)	nonsense	probably null
R4917:Cds2	UTSW	2	132,140,398 (GRCm39)	missense	probably damaging	0.98
R5070:Cds2	UTSW	2	132,144,008 (GRCm39)	nonsense	probably null
R5199:Cds2	UTSW	2	132,140,403 (GRCm39)	missense	probably damaging	1.00
R5431:Cds2	UTSW	2	132,144,090 (GRCm39)	missense	probably benign	0.28
R5704:Cds2	UTSW	2	132,135,249 (GRCm39)	missense	probably benign	0.01
R5858:Cds2	UTSW	2	132,144,033 (GRCm39)	missense	probably benign	0.00
R5946:Cds2	UTSW	2	132,139,168 (GRCm39)	missense	probably damaging	1.00
R5954:Cds2	UTSW	2	132,139,191 (GRCm39)	missense	probably benign	0.00
R7195:Cds2	UTSW	2	132,135,204 (GRCm39)	missense	probably benign	0.28
R7234:Cds2	UTSW	2	132,146,400 (GRCm39)	critical splice donor site	probably null
R7413:Cds2	UTSW	2	132,135,235 (GRCm39)	missense	probably benign	0.03
R7983:Cds2	UTSW	2	132,105,430 (GRCm39)	splice site	probably null
R9036:Cds2	UTSW	2	132,139,614 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CGCTTTGACTGCCAGTACCTGATG -3'
(R):5'- CAATGTATGATCTCTCGCACAGCCC -3'

Sequencing Primer
(F):5'- AGCTTTATCAGGTGCGGAACTAC -3'
(R):5'- CAGAAACCCAAATGGTTCTTTCCTG -3'

Posted On

2013-05-09