Mutagenetix > Incidental Mutation

Incidental Mutation 'R4704:Cds2'

356266

Institutional Source

Beutler Lab

Gene Symbol

Cds2

Ensembl Gene

ENSMUSG00000058793

Gene Name

CDP-diacylglycerol synthase 2

Synonyms

D2Wsu127e, 5730450N06Rik, 5730460C18Rik

MMRRC Submission

041952-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4704 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

132105068-132153970 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 132142522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 239 (Y239*)

Ref Sequence

ENSEMBL: ENSMUSP00000099470 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089461] [ENSMUST00000103181] [ENSMUST00000110158] [ENSMUST00000147456]

AlphaFold

Q99L43

Predicted Effect

probably null
Transcript: ENSMUST00000089461
AA Change: Y222*

SMART Domains

Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793
AA Change: Y222*

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

Predicted Effect

probably null
Transcript: ENSMUST00000103181
AA Change: Y239*

SMART Domains

Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793
AA Change: Y239*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000110158

SMART Domains

Protein: ENSMUSP00000105786
Gene: ENSMUSG00000058793

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_1	69	129	3.4e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138194

SMART Domains

Protein: ENSMUSP00000121769
Gene: ENSMUSG00000058793

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

0.9712

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (89/92)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	A	T	7: 130,959,259 (GRCm39)	M147K	probably damaging	Het
Abca13	A	G	11: 9,226,990 (GRCm39)	D582G	possibly damaging	Het
Abca2	T	C	2: 25,333,424 (GRCm39)	L1683P	probably damaging	Het
Adam39	A	G	8: 41,278,833 (GRCm39)	H408R	probably benign	Het
Adcy4	A	G	14: 56,012,482 (GRCm39)	S554P	possibly damaging	Het
Ahnak	T	C	19: 8,990,545 (GRCm39)	I3943T	probably damaging	Het
Ahnak	T	G	19: 8,989,622 (GRCm39)		probably benign	Het
Alkal2	T	A	12: 30,937,195 (GRCm39)	S109R	probably damaging	Het
Apobec4	A	G	1: 152,632,001 (GRCm39)	T10A	probably benign	Het
Arhgef40	A	G	14: 52,239,767 (GRCm39)	N1327S	probably damaging	Het
Arpc3	A	G	5: 122,538,471 (GRCm39)	M1V	probably null	Het
Ascc1	A	G	10: 59,885,624 (GRCm39)	Y225C	probably damaging	Het
Ascc3	A	G	10: 50,535,110 (GRCm39)	I668V	probably benign	Het
Bdnf	T	A	2: 109,554,037 (GRCm39)	M137K	possibly damaging	Het
Cacna1b	T	C	2: 24,544,475 (GRCm39)	D1231G	probably damaging	Het
Cpped1	G	A	16: 11,703,493 (GRCm39)		probably benign	Het
Ctu2	G	A	8: 123,206,042 (GRCm39)	R261Q	probably damaging	Het
Cux1	A	G	5: 136,278,055 (GRCm39)	V645A	probably benign	Het
Cyp4f13	A	G	17: 33,144,709 (GRCm39)	C401R	probably damaging	Het
Dpt	T	G	1: 164,646,518 (GRCm39)	Y162*	probably null	Het
Ednra	A	G	8: 78,394,592 (GRCm39)		probably benign	Het
Eepd1	A	G	9: 25,394,122 (GRCm39)	T129A	probably benign	Het
Eif2s1	A	G	12: 78,923,944 (GRCm39)	T134A	probably benign	Het
Eloa	A	G	4: 135,738,525 (GRCm39)	V145A	probably benign	Het
Enam	T	A	5: 88,651,650 (GRCm39)	L1053*	probably null	Het
Eng	T	C	2: 32,568,924 (GRCm39)	S484P	probably benign	Het
Eogt	A	T	6: 97,090,813 (GRCm39)	V442E	probably damaging	Het
Fam185a	C	T	5: 21,685,471 (GRCm39)		probably benign	Het
Gm4922	C	T	10: 18,660,567 (GRCm39)	V52I	probably benign	Het
Gnao1	A	G	8: 94,538,004 (GRCm39)	E14G	probably benign	Het
Gpr75	C	A	11: 30,841,110 (GRCm39)	A5D	probably benign	Het
Hbq1b	T	A	11: 32,237,448 (GRCm39)		probably benign	Het
Hdac7	G	A	15: 97,694,097 (GRCm39)	T724M	probably damaging	Het
Ifi204	C	A	1: 173,587,927 (GRCm39)		probably benign	Het
Ift88	A	G	14: 57,718,307 (GRCm39)		probably benign	Het
Irak4	A	G	15: 94,464,781 (GRCm39)		probably null	Het
Kalrn	T	C	16: 34,024,327 (GRCm39)	D610G	probably damaging	Het
Kifc2	T	C	15: 76,547,177 (GRCm39)		probably null	Het
Kmt2c	G	A	5: 25,519,025 (GRCm39)	Q2362*	probably null	Het
Kntc1	G	A	5: 123,949,496 (GRCm39)	E1956K	probably damaging	Het
Lama3	T	C	18: 12,686,280 (GRCm39)	V2781A	probably benign	Het
Lipt2	A	G	7: 99,809,534 (GRCm39)	E207G	probably damaging	Het
Mag	A	T	7: 30,608,598 (GRCm39)	L172Q	probably damaging	Het
Map1b	A	T	13: 99,566,983 (GRCm39)	C1913S	unknown	Het
Mical3	A	G	6: 120,935,649 (GRCm39)	S1626P	probably benign	Het
Mslnl	G	T	17: 25,957,952 (GRCm39)	W65L	possibly damaging	Het
Muc20	G	T	16: 32,599,448 (GRCm39)	A3332S	possibly damaging	Het
Nadk	C	A	4: 155,669,684 (GRCm39)	P157T	probably benign	Het
Nkx2-3	G	A	19: 43,601,123 (GRCm39)	E62K	probably damaging	Het
Or6c2	T	C	10: 129,362,171 (GRCm39)	L25P	possibly damaging	Het
Pclo	A	G	5: 14,726,494 (GRCm39)		probably benign	Het
Pcna-ps2	T	A	19: 9,260,786 (GRCm39)	V15E	possibly damaging	Het
Plekhg3	G	T	12: 76,625,012 (GRCm39)	G1285W	probably damaging	Het
Pramel29	A	T	4: 143,935,162 (GRCm39)	I193N	probably damaging	Het
Procr	A	G	2: 155,596,258 (GRCm39)	S142G	probably damaging	Het
Ptpn3	A	T	4: 57,270,119 (GRCm39)	N14K	possibly damaging	Het
Rin1	C	A	19: 5,105,018 (GRCm39)	L693I	probably damaging	Het
Ripk4	C	A	16: 97,547,204 (GRCm39)	E290*	probably null	Het
Rnf213	A	G	11: 119,331,175 (GRCm39)	Y2128C	probably damaging	Het
Saal1	T	C	7: 46,349,164 (GRCm39)		probably benign	Het
Selplg	T	C	5: 113,957,094 (GRCm39)	D404G	probably benign	Het
Serpinf1	C	A	11: 75,301,867 (GRCm39)	A263S	probably damaging	Het
Sgo2b	A	T	8: 64,380,824 (GRCm39)	D669E	probably damaging	Het
Slc30a9	T	C	5: 67,499,616 (GRCm39)		probably benign	Het
Sri	A	T	5: 8,112,430 (GRCm39)		probably null	Het
Sspo	G	A	6: 48,475,638 (GRCm39)	C4918Y	probably damaging	Het
Szt2	A	G	4: 118,251,026 (GRCm39)	Y361H	probably damaging	Het
Tbc1d12	T	A	19: 38,889,781 (GRCm39)	W404R	probably damaging	Het
Tcf20	T	C	15: 82,735,928 (GRCm39)	E1841G	possibly damaging	Het
Tep1	T	C	14: 51,074,530 (GRCm39)	T1832A	probably benign	Het
Tmem132e	G	A	11: 82,334,357 (GRCm39)	A623T	probably damaging	Het
Tmem201	A	T	4: 149,811,774 (GRCm39)	F357Y	possibly damaging	Het
Trappc13	T	G	13: 104,303,329 (GRCm39)		probably benign	Het
Trav6-5	C	T	14: 53,728,883 (GRCm39)	Q47*	probably null	Het
Ubxn1	T	A	19: 8,849,399 (GRCm39)	D47E	probably benign	Het
Vmn2r45	G	T	7: 8,486,535 (GRCm39)	S251*	probably null	Het
Wnk1	A	G	6: 119,942,705 (GRCm39)	L774S	possibly damaging	Het
Zfp189	T	C	4: 49,530,081 (GRCm39)	S395P	probably 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
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
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'- CTCATATGTGTGCACAGTGTGTC -3'
(R):5'- TACACAGCCCCAGAGTAAGG -3'

Sequencing Primer
(F):5'- GCACAGTGTGTCTTTGTCGTTTCC -3'
(R):5'- GTGAAGACAGGCCCACATG -3'

Posted On

2015-10-21