Mutagenetix > Incidental Mutation

Incidental Mutation 'R1740:Cds2'

200258

Institutional Source

Beutler Lab

Gene Symbol

Cds2

Ensembl Gene

ENSMUSG00000058793

Gene Name

CDP-diacylglycerol synthase 2

Synonyms

D2Wsu127e, 5730450N06Rik, 5730460C18Rik

MMRRC Submission

039772-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1740 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132105068-132153970 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 132144133 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 320 (I320N)

Ref Sequence

ENSEMBL: ENSMUSP00000099470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089461] [ENSMUST00000103181] [ENSMUST00000147456]

AlphaFold

Q99L43

Predicted Effect

possibly damaging
Transcript: ENSMUST00000089461
AA Change: I303N

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793
AA Change: I303N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103181
AA Change: I320N

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793
AA Change: I320N

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

Predicted Effect

unknown
Transcript: ENSMUST00000138194
AA Change: I46N

SMART Domains

Protein: ENSMUSP00000121769
Gene: ENSMUSG00000058793
AA Change: I46N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147456

Meta Mutation Damage Score

0.3783

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

99% (69/70)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	A	7: 41,275,549 (GRCm39)	C417*	probably null	Het
4930548G14Rik	G	A	15: 46,488,885 (GRCm39)		noncoding transcript	Het
Abcc12	T	A	8: 87,232,126 (GRCm39)	K1311*	probably null	Het
Abcc12	T	C	8: 87,236,400 (GRCm39)	D1138G	possibly damaging	Het
Adam32	A	G	8: 25,411,314 (GRCm39)	S116P	probably damaging	Het
Arhgef26	C	T	3: 62,331,004 (GRCm39)	L39F	probably damaging	Het
Babam1	T	C	8: 71,855,663 (GRCm39)	I252T	probably damaging	Het
Btf3	C	T	13: 98,452,804 (GRCm39)	M1I	probably null	Het
Ccdc61	G	T	7: 18,637,862 (GRCm39)		probably benign	Het
Ccdc89	C	T	7: 90,075,946 (GRCm39)	S52F	probably damaging	Het
Cebpe	T	C	14: 54,949,399 (GRCm39)	Y6C	probably damaging	Het
Cep250	T	A	2: 155,815,276 (GRCm39)	I598N	probably damaging	Het
Cep350	T	A	1: 155,804,579 (GRCm39)	I835F	probably damaging	Het
Ces3a	T	C	8: 105,775,317 (GRCm39)	L22P	probably damaging	Het
Cfap221	T	C	1: 119,873,558 (GRCm39)	S490G	probably benign	Het
Cyp2j11	A	G	4: 96,207,613 (GRCm39)	V234A	probably benign	Het
Dgat1	T	C	15: 76,386,929 (GRCm39)	H399R	probably damaging	Het
Dnah10	A	T	5: 124,850,254 (GRCm39)		probably null	Het
Ebpl	T	G	14: 61,578,656 (GRCm39)	K193T	probably benign	Het
Entpd5	T	C	12: 84,443,545 (GRCm39)	N66S	probably benign	Het
Fcgbp	G	T	7: 27,800,674 (GRCm39)	G1240V	possibly damaging	Het
Gabra5	A	G	7: 57,071,590 (GRCm39)	S209P	probably benign	Het
Glce	A	T	9: 61,977,815 (GRCm39)	V23D	probably damaging	Het
Gm14226	GACTGTTAC	GAC	2: 154,866,851 (GRCm39)		probably benign	Het
Gtf2h1	A	G	7: 46,461,890 (GRCm39)	N296S	probably null	Het
Herc6	T	C	6: 57,629,050 (GRCm39)	S654P	probably benign	Het
Kcnk3	A	T	5: 30,779,321 (GRCm39)	M124L	possibly damaging	Het
Lamb2	T	G	9: 108,359,127 (GRCm39)	V281G	probably damaging	Het
Lctl	A	T	9: 64,040,389 (GRCm39)	D444V	probably damaging	Het
Mcm2	A	G	6: 88,861,026 (GRCm39)	F891L	probably damaging	Het
Mcub	A	T	3: 129,712,376 (GRCm39)	H166Q	probably benign	Het
Mical2	G	T	7: 111,933,043 (GRCm39)	R739L	probably benign	Het
Mideas	T	C	12: 84,219,676 (GRCm39)	E426G	probably damaging	Het
Mkrn2	G	T	6: 115,590,330 (GRCm39)	A229S	probably damaging	Het
Mmp7	A	G	9: 7,695,278 (GRCm39)	Y80C	possibly damaging	Het
Mpp2	T	C	11: 101,953,222 (GRCm39)		probably null	Het
Msh6	C	A	17: 88,293,150 (GRCm39)	T635K	possibly damaging	Het
Mvd	T	A	8: 123,163,286 (GRCm39)	T315S	probably benign	Het
Myocd	C	T	11: 65,109,347 (GRCm39)		probably benign	Het
Nav1	C	T	1: 135,386,127 (GRCm39)		probably null	Het
Or4k48	T	A	2: 111,476,214 (GRCm39)	I43F	probably damaging	Het
Pde4b	A	T	4: 102,344,548 (GRCm39)	D141V	probably damaging	Het
Pdgfrb	A	T	18: 61,214,905 (GRCm39)	D978V	possibly damaging	Het
Prss55	T	C	14: 64,313,129 (GRCm39)	T252A	probably damaging	Het
Psd3	A	T	8: 68,573,491 (GRCm39)	V230E	probably damaging	Het
Ptk2	A	G	15: 73,114,255 (GRCm39)	V701A	possibly damaging	Het
Ptprn	A	G	1: 75,238,694 (GRCm39)	V82A	probably damaging	Het
Ptpru	G	T	4: 131,520,989 (GRCm39)		probably null	Het
Raph1	T	A	1: 60,558,183 (GRCm39)	K258*	probably null	Het
Rnf25	A	G	1: 74,637,886 (GRCm39)	V28A	probably damaging	Het
Slc25a4	C	T	8: 46,661,540 (GRCm39)	V212M	probably benign	Het
Slc39a3	T	C	10: 80,867,342 (GRCm39)	S135G	probably damaging	Het
Slco6d1	A	G	1: 98,356,097 (GRCm39)	I220M	probably damaging	Het
Smim19	G	T	8: 22,963,544 (GRCm39)	Y21*	probably null	Het
Speer4f1	A	C	5: 17,683,759 (GRCm39)	Y141S	probably damaging	Het
Srgap2	G	A	1: 131,217,126 (GRCm39)	P1062L	probably benign	Het
Stra8	A	T	6: 34,904,654 (GRCm39)		probably benign	Het
Timm21	G	C	18: 84,967,387 (GRCm39)	L130V	probably damaging	Het
Tmem40	A	G	6: 115,715,960 (GRCm39)	S76P	probably benign	Het
Unc13b	C	T	4: 43,240,285 (GRCm39)	R3569W	probably damaging	Het
Vmn1r128	A	T	7: 21,083,869 (GRCm39)	Q191L	probably benign	Het
Washc2	T	A	6: 116,208,593 (GRCm39)		probably benign	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
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
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'- GAACTGATGTTCTTGCCTGCCCT -3'
(R):5'- CGTGCCAGAAACCCACCGT -3'

Sequencing Primer
(F):5'- CCTCTGCTCTTCGTCCTTAG -3'
(R):5'- ccagcaagggcattcacag -3'

Posted On

2014-05-23