Mutagenetix > Incidental Mutation

Incidental Mutation 'R0831:Cds2'

262276

Institutional Source

Beutler Lab

Gene Symbol

Cds2

Ensembl Gene

ENSMUSG00000058793

Gene Name

CDP-diacylglycerol synthase 2

Synonyms

D2Wsu127e, 5730450N06Rik, 5730460C18Rik

MMRRC Submission

039010-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0831 (G1)

Quality Score

106

Status

Not validated

Chromosome

Chromosomal Location

132105068-132153970 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 132127887 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000086886 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089461] [ENSMUST00000103181] [ENSMUST00000110158] [ENSMUST00000125060] [ENSMUST00000147456]

AlphaFold

Q99L43

Predicted Effect

probably null
Transcript: ENSMUST00000089461

SMART Domains

Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103181

SMART Domains

Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793

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: ENSMUST00000125060

Predicted Effect

probably benign
Transcript: ENSMUST00000147456

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.6%
3x: 98.9%
10x: 96.9%
20x: 92.0%

Validation Efficiency

95% (82/86)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900092C05Rik	C	T	7: 12,284,523 (GRCm39)		probably benign	Het
3425401B19Rik	T	C	14: 32,384,228 (GRCm39)	N579S	probably benign	Het
Adck1	G	T	12: 88,335,118 (GRCm39)	M1I	probably null	Het
Adgra3	A	T	5: 50,128,144 (GRCm39)	I779N	probably damaging	Het
Adgrf2	A	G	17: 43,021,334 (GRCm39)	S497P	probably damaging	Het
Afg3l2	A	C	18: 67,554,297 (GRCm39)	F468L	probably damaging	Het
Alms1	T	A	6: 85,605,502 (GRCm39)	I2384N	probably benign	Het
Ankrd13b	A	T	11: 77,363,585 (GRCm39)	S244R	probably damaging	Het
Aox1	T	A	1: 58,378,842 (GRCm39)	H1030Q	probably benign	Het
Ap1b1	A	G	11: 4,973,092 (GRCm39)		probably benign	Het
Atxn2l	A	G	7: 126,098,332 (GRCm39)	S187P	probably damaging	Het
B4galt4	G	T	16: 38,588,341 (GRCm39)	E57D	probably benign	Het
Cad	T	C	5: 31,224,944 (GRCm39)	V949A	probably damaging	Het
Cadps2	C	T	6: 23,321,739 (GRCm39)	S1051N	possibly damaging	Het
Ccdc66	C	T	14: 27,219,313 (GRCm39)	V148I	probably benign	Het
Ccser1	C	T	6: 61,400,045 (GRCm39)	P55S	probably damaging	Het
Cep95	A	G	11: 106,705,530 (GRCm39)	D548G	probably benign	Het
Chil3	A	G	3: 106,057,063 (GRCm39)	Y294H	probably benign	Het
Chmp5	A	G	4: 40,949,500 (GRCm39)	D39G	probably damaging	Het
Chrd	T	A	16: 20,560,059 (GRCm39)	F887I	probably damaging	Het
Col24a1	G	T	3: 145,034,520 (GRCm39)	G580V	probably damaging	Het
Col6a2	A	T	10: 76,439,939 (GRCm39)	N655K	probably damaging	Het
Ctsf	A	T	19: 4,909,868 (GRCm39)	Y416F	possibly damaging	Het
Dennd5a	A	C	7: 109,533,961 (GRCm39)	V77G	probably damaging	Het
Dna2	A	T	10: 62,795,108 (GRCm39)	K460*	probably null	Het
Dnah17	A	T	11: 117,951,097 (GRCm39)	M2842K	probably damaging	Het
Dnajc13	C	A	9: 104,049,811 (GRCm39)	G1765V	probably damaging	Het
Donson	A	C	16: 91,480,651 (GRCm39)	C243W	probably damaging	Het
Dpp8	A	T	9: 64,985,961 (GRCm39)	N817I	possibly damaging	Het
Eef1d	G	A	15: 75,768,655 (GRCm39)		probably benign	Het
Esf1	T	A	2: 140,010,279 (GRCm39)	D19V	probably damaging	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gm9867	C	A	4: 140,049,799 (GRCm39)	A128S	unknown	Het
Igsf23	G	T	7: 19,675,662 (GRCm39)		probably benign	Het
Inhca	T	C	9: 103,146,978 (GRCm39)	H292R	possibly damaging	Het
Kdm7a	C	A	6: 39,143,699 (GRCm39)		probably benign	Het
Kif14	G	A	1: 136,453,609 (GRCm39)		probably benign	Het
Mroh7	T	C	4: 106,537,990 (GRCm39)	N1229D	possibly damaging	Het
Mrps11	C	A	7: 78,441,611 (GRCm39)		probably benign	Het
Mtmr2	T	A	9: 13,707,409 (GRCm39)	D248E	probably damaging	Het
Myrfl	C	A	10: 116,619,114 (GRCm39)	S748I	probably benign	Het
Nop14	T	C	5: 34,807,864 (GRCm39)	E366G	possibly damaging	Het
Or13c3	T	G	4: 52,855,764 (GRCm39)	I250L	possibly damaging	Het
Or2w25	C	T	11: 59,504,480 (GRCm39)	T230I	possibly damaging	Het
Or52z13	A	G	7: 103,247,338 (GRCm39)	I272V	probably benign	Het
Or7e177	T	A	9: 20,211,861 (GRCm39)	C123S	probably benign	Het
Or8g2b	C	T	9: 39,751,579 (GRCm39)	P283L	probably damaging	Het
Phykpl	G	T	11: 51,476,366 (GRCm39)	E29*	probably null	Het
Plppr4	A	G	3: 117,125,295 (GRCm39)		probably null	Het
Prmt2	A	C	10: 76,043,641 (GRCm39)		probably benign	Het
Prodh2	T	A	7: 30,193,649 (GRCm39)	Y114*	probably null	Het
Prr23a2	C	A	9: 98,738,917 (GRCm39)	H92N	probably damaging	Het
Rasl10b	G	A	11: 83,308,665 (GRCm39)		probably null	Het
Rdx	C	A	9: 51,977,117 (GRCm39)	A122E	probably damaging	Het
Rspo3	T	G	10: 29,330,253 (GRCm39)	D236A	unknown	Het
Sdk2	A	T	11: 113,723,084 (GRCm39)	D1302E	probably damaging	Het
Sipa1	A	T	19: 5,710,382 (GRCm39)	D209E	probably damaging	Het
Sirpa	T	G	2: 129,469,856 (GRCm39)		probably benign	Het
Ska1	A	C	18: 74,330,570 (GRCm39)		probably benign	Het
Slc4a9	T	C	18: 36,668,331 (GRCm39)		probably benign	Het
Slco1b2	T	C	6: 141,631,172 (GRCm39)	V602A	probably benign	Het
Slco2a1	T	C	9: 102,959,533 (GRCm39)	V543A	probably damaging	Het
Sorcs3	A	T	19: 48,682,433 (GRCm39)	L489F	probably damaging	Het
Sorl1	T	C	9: 41,982,365 (GRCm39)		probably benign	Het
Sp140l1	C	G	1: 85,077,226 (GRCm39)	K113N	probably benign	Het
Spindoc	G	T	19: 7,352,100 (GRCm39)	N82K	probably benign	Het
Stk17b	C	A	1: 53,796,651 (GRCm39)	C372F	probably damaging	Het
Tbck	A	G	3: 132,428,052 (GRCm39)		probably benign	Het
Thoc1	C	T	18: 9,963,267 (GRCm39)	T127I	probably benign	Het
Togaram2	G	T	17: 72,023,439 (GRCm39)	R765L	probably damaging	Het
Tprg1	A	G	16: 25,136,219 (GRCm39)	Y70C	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Umodl1	T	C	17: 31,215,325 (GRCm39)	Y1050H	probably damaging	Het
Vmn1r205	T	A	13: 22,776,586 (GRCm39)	D172V	probably benign	Het
Vmn1r79	A	T	7: 11,910,990 (GRCm39)	N291Y	probably damaging	Het
Vmn2r112	T	A	17: 22,833,980 (GRCm39)	N549K	probably damaging	Het
Vrk3	T	A	7: 44,414,227 (GRCm39)	L241Q	probably damaging	Het
Zc3h7a	A	G	16: 10,969,744 (GRCm39)	S386P	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
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

Posted On

2015-02-04