Incidental Mutation 'IGL00771:Cds2'
ID9578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cds2
Ensembl Gene ENSMUSG00000058793
Gene NameCDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2
Synonyms5730460C18Rik, 5730450N06Rik, D2Wsu127e
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00771
Quality Score
Status
Chromosome2
Chromosomal Location132263148-132312050 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 132304352 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000089461] [ENSMUST00000103181]
Predicted Effect probably benign
Transcript: ENSMUST00000089461
SMART Domains Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793

DomainStartEndE-ValueType
Pfam:CTP_transf_1 52 382 5e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103181
SMART Domains Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793

DomainStartEndE-ValueType
Pfam:CTP_transf_1 69 399 7.6e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138194
SMART Domains Protein: ENSMUSP00000121769
Gene: ENSMUSG00000058793

DomainStartEndE-ValueType
Pfam:CTP_transf_1 3 126 8.7e-34 PFAM
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik A G 17: 48,145,684 L28S possibly damaging Het
Abca13 T A 11: 9,290,870 L911Q probably damaging Het
Armc9 C A 1: 86,199,835 probably null Het
Asxl2 A G 12: 3,474,560 H196R probably damaging Het
Atm T C 9: 53,493,054 D1329G probably benign Het
Cep295 A T 9: 15,322,565 C2184S probably damaging Het
Cpeb2 T C 5: 43,237,547 F623L possibly damaging Het
Dmd G A X: 83,908,372 probably null Het
F11r T A 1: 171,462,942 probably null Het
Gbp3 C T 3: 142,565,244 probably benign Het
Gpc4 A G X: 52,074,650 S119P possibly damaging Het
H2-M10.2 A G 17: 36,286,396 L9P probably damaging Het
Ica1l T C 1: 60,013,947 D144G probably damaging Het
Jaml A G 9: 45,093,807 K124E possibly damaging Het
Lamc2 T C 1: 153,130,056 N950S probably benign Het
Ltbp1 A T 17: 75,362,516 D1099V probably damaging Het
Mlxipl C T 5: 135,132,778 T517I probably damaging Het
Nbeal1 C T 1: 60,235,353 R308C probably benign Het
Nlrp1a A T 11: 71,122,741 L561* probably null Het
Prom1 A T 5: 44,029,776 probably benign Het
Ptprc T A 1: 138,113,677 E148V probably benign Het
Rap1gap T C 4: 137,716,524 V224A probably damaging Het
Slc7a6 T C 8: 106,179,240 S35P probably benign Het
Snx17 C T 5: 31,197,335 R314C probably damaging Het
Spats2l T C 1: 57,943,072 L371P probably damaging Het
Spsb1 C T 4: 149,907,107 M1I probably null Het
Sv2a G A 3: 96,193,284 V661I probably benign Het
Taar7b T A 10: 24,000,198 V87E probably benign Het
Tcf7l2 G A 19: 55,917,421 V292I probably damaging Het
Teddm1b T A 1: 153,874,594 C50S possibly damaging Het
Trmt10a A G 3: 138,150,455 D159G probably benign Het
Urod T C 4: 116,990,384 N336S probably damaging Het
Usp8 A G 2: 126,725,433 probably null Het
Zfp182 A G X: 21,030,657 Y467H probably damaging Het
Other mutations in Cds2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cds2 APN 2 132297293 missense probably damaging 1.00
IGL00434:Cds2 APN 2 132293351 missense probably damaging 0.99
IGL00984:Cds2 APN 2 132298521 missense probably benign 0.02
IGL02041:Cds2 APN 2 132294443 missense possibly damaging 0.94
sugarless UTSW 2 132298483 missense probably damaging 1.00
R0045:Cds2 UTSW 2 132305155 missense possibly damaging 0.67
R0045:Cds2 UTSW 2 132305155 missense possibly damaging 0.67
R0452:Cds2 UTSW 2 132298479 missense probably damaging 0.99
R0455:Cds2 UTSW 2 132285967 critical splice donor site probably null
R0593:Cds2 UTSW 2 132297376 unclassified probably benign
R0831:Cds2 UTSW 2 132285967 critical splice donor site probably null
R1053:Cds2 UTSW 2 132305260 missense probably damaging 1.00
R1669:Cds2 UTSW 2 132295519 splice site probably null
R1740:Cds2 UTSW 2 132302213 missense possibly damaging 0.63
R1859:Cds2 UTSW 2 132302195 missense probably damaging 1.00
R4125:Cds2 UTSW 2 132297271 missense probably benign 0.00
R4126:Cds2 UTSW 2 132297271 missense probably benign 0.00
R4128:Cds2 UTSW 2 132297271 missense probably benign 0.00
R4352:Cds2 UTSW 2 132263445 start codon destroyed probably null 0.37
R4467:Cds2 UTSW 2 132294446 nonsense probably null
R4698:Cds2 UTSW 2 132304953 missense probably damaging 0.97
R4704:Cds2 UTSW 2 132300602 nonsense probably null
R4917:Cds2 UTSW 2 132298478 missense probably damaging 0.98
R5070:Cds2 UTSW 2 132302088 nonsense probably null
R5199:Cds2 UTSW 2 132298483 missense probably damaging 1.00
R5431:Cds2 UTSW 2 132302170 missense probably benign 0.28
R5704:Cds2 UTSW 2 132293329 missense probably benign 0.01
R5858:Cds2 UTSW 2 132302113 missense probably benign 0.00
R5946:Cds2 UTSW 2 132297248 missense probably damaging 1.00
R5954:Cds2 UTSW 2 132297271 missense probably benign 0.00
R7195:Cds2 UTSW 2 132293284 missense probably benign 0.28
R7234:Cds2 UTSW 2 132304480 critical splice donor site probably null
Posted On2012-12-06