Incidental Mutation 'R4467:Cds2'
ID 329217
Institutional Source Beutler Lab
Gene Symbol Cds2
Ensembl Gene ENSMUSG00000058793
Gene Name CDP-diacylglycerol synthase 2
Synonyms D2Wsu127e, 5730450N06Rik, 5730460C18Rik
MMRRC Submission 041724-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4467 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 132105068-132153970 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 132136366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 39 (Y39*)
Ref Sequence ENSEMBL: ENSMUSP00000135497 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089461] [ENSMUST00000103181] [ENSMUST00000110158] [ENSMUST00000125060] [ENSMUST00000147456]
AlphaFold Q99L43
Predicted Effect probably damaging
Transcript: ENSMUST00000089461
AA Change: I68N

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793
AA Change: I68N

DomainStartEndE-ValueType
Pfam:CTP_transf_1 52 382 5e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000103181
AA Change: I85N

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793
AA Change: I85N

DomainStartEndE-ValueType
Pfam:CTP_transf_1 69 399 7.6e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000110158
AA Change: I85N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105786
Gene: ENSMUSG00000058793
AA Change: I85N

DomainStartEndE-ValueType
Pfam:CTP_transf_1 69 129 3.4e-14 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000125060
AA Change: I8N

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect probably null
Transcript: ENSMUST00000147456
AA Change: Y39*
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.0%
Validation Efficiency 98% (52/53)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik G T 5: 64,056,182 (GRCm39) probably benign Het
Atg4a-ps A G 3: 103,553,171 (GRCm39) Y57H probably damaging Het
Bag4 C T 8: 26,259,516 (GRCm39) A228T probably benign Het
Bms1 G A 6: 118,360,808 (GRCm39) T1220I probably damaging Het
Brat1 T C 5: 140,690,826 (GRCm39) probably benign Het
Chrnd T A 1: 87,125,099 (GRCm39) L384Q probably damaging Het
Cpa3 A T 3: 20,282,981 (GRCm39) Y155* probably null Het
Crlf1 G A 8: 70,953,606 (GRCm39) W260* probably null Het
Cux1 C G 5: 136,341,576 (GRCm39) E605D probably damaging Het
Cylc2 C G 4: 51,229,651 (GRCm39) T331R unknown Het
Dmtf1 T C 5: 9,186,085 (GRCm39) N167S probably damaging Het
Dnaaf9 A G 2: 130,609,567 (GRCm39) I372T probably damaging Het
Dnai7 A T 6: 145,128,944 (GRCm39) probably null Het
Dtx2 T A 5: 136,040,930 (GRCm39) W112R probably damaging Het
Elf3 A G 1: 135,184,582 (GRCm39) I138T probably damaging Het
F11 T A 8: 45,694,511 (GRCm39) I617F probably damaging Het
Fdps A T 3: 89,008,093 (GRCm39) D8E possibly damaging Het
Fzd10 C A 5: 128,678,340 (GRCm39) T20K probably benign Het
Gm9978 T A 10: 78,322,750 (GRCm39) noncoding transcript Het
Gpr158 T A 2: 21,831,810 (GRCm39) M970K probably damaging Het
Has1 C T 17: 18,064,257 (GRCm39) V461M probably benign Het
Hdac3 C T 18: 38,085,566 (GRCm39) G80D probably benign Het
Klk12 A T 7: 43,422,807 (GRCm39) R245W probably damaging Het
Lamp5 A G 2: 135,900,940 (GRCm39) I47V probably damaging Het
Or6c1b T C 10: 129,272,933 (GRCm39) I84T probably benign Het
Ovgp1 A G 3: 105,885,027 (GRCm39) D122G probably benign Het
Piezo1 T C 8: 123,213,135 (GRCm39) E1875G probably benign Het
Pih1d1 A G 7: 44,807,921 (GRCm39) M132V possibly damaging Het
Pon2 C T 6: 5,267,021 (GRCm39) A241T probably benign Het
Prkce A G 17: 86,927,339 (GRCm39) I538V possibly damaging Het
Rab36 C T 10: 74,887,875 (GRCm39) R249* probably null Het
Rps6kl1 C T 12: 85,194,582 (GRCm39) A110T probably damaging Het
Rsad1 T C 11: 94,435,356 (GRCm39) T244A probably benign Het
Slc22a7 T C 17: 46,743,436 (GRCm39) I532V probably benign Het
Slc2a7 T C 4: 150,247,731 (GRCm39) V377A possibly damaging Het
Slx4 A G 16: 3,806,919 (GRCm39) V508A possibly damaging Het
Stag2 A G X: 41,322,749 (GRCm39) S400G probably benign Het
Stat6 T G 10: 127,487,097 (GRCm39) I201M probably damaging Het
Stim2 T C 5: 54,273,536 (GRCm39) probably null Het
Tbc1d9 A G 8: 83,937,107 (GRCm39) Y63C probably damaging Het
Tctn2 T C 5: 124,758,252 (GRCm39) noncoding transcript Het
Tmem181a T A 17: 6,346,061 (GRCm39) L185H probably damaging Het
Ubr5 T A 15: 38,004,580 (GRCm39) T1282S probably damaging Het
Ufl1 A T 4: 25,254,806 (GRCm39) I550N probably damaging Het
Uty A G Y: 1,158,372 (GRCm39) V557A possibly damaging Het
Vmn1r54 T C 6: 90,246,253 (GRCm39) S56P probably damaging Het
Zfp980 G A 4: 145,428,653 (GRCm39) G461S probably benign Het
Other mutations in Cds2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TGTGCTAGTGGCTTCTGCAC -3'
(R):5'- GGTTCTGAGAAACCTGGAGC -3'

Sequencing Primer
(F):5'- TTCTGCACCTGCTGAGTGACAG -3'
(R):5'- TTCTGAGAAACCTGGAGCTCCAAAG -3'
Posted On 2015-07-21