Incidental Mutation 'IGL02041:Cds2'
ID184741
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 #IGL02041
Quality Score
Status
Chromosome2
Chromosomal Location132263148-132312050 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 132294443 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 84 (I84N)
Ref Sequence ENSEMBL: ENSMUSP00000105786 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089461] [ENSMUST00000103181] [ENSMUST00000110158] [ENSMUST00000125060] [ENSMUST00000147456]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089461
AA Change: I67N

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793
AA Change: I67N

DomainStartEndE-ValueType
Pfam:CTP_transf_1 52 382 5e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000103181
AA Change: I84N

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793
AA Change: I84N

DomainStartEndE-ValueType
Pfam:CTP_transf_1 69 399 7.6e-90 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000110158
AA Change: I84N

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000105786
Gene: ENSMUSG00000058793
AA Change: I84N

DomainStartEndE-ValueType
Pfam:CTP_transf_1 69 129 3.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125060
AA Change: I7N

PolyPhen 2 Score 0.344 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect unknown
Transcript: ENSMUST00000147456
AA Change: H38Q
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,784,235 Q28L probably damaging Het
Afg1l A G 10: 42,454,380 V97A probably damaging Het
Akap6 A C 12: 53,140,653 S1617R probably damaging Het
Aldh1a3 T C 7: 66,407,831 N285D probably damaging Het
Arhgap20 A T 9: 51,846,190 N494I possibly damaging Het
Atg9a G T 1: 75,183,104 Q712K possibly damaging Het
Btbd11 G A 10: 85,387,554 D76N unknown Het
Cdcp2 G A 4: 107,107,189 probably benign Het
Clcn3 T C 8: 60,923,153 I596V probably damaging Het
Ctxn1 A G 8: 4,258,514 L39P probably damaging Het
Efhb A T 17: 53,426,259 V528D probably damaging Het
Fmod T G 1: 134,040,263 S14A probably benign Het
Foxh1 A G 15: 76,668,920 F198S probably damaging Het
Gcc2 A G 10: 58,269,281 E77G probably damaging Het
Gm5420 G T 10: 21,691,034 noncoding transcript Het
Gm6434 T G 7: 25,882,230 noncoding transcript Het
Il1b A T 2: 129,369,742 N19K possibly damaging Het
Lama2 T A 10: 26,984,326 D3055V probably damaging Het
Lcn3 G A 2: 25,765,624 V18I probably benign Het
Lpcat2 A G 8: 92,918,181 S533G probably benign Het
Map4k2 G A 19: 6,351,318 R606Q probably benign Het
Mtnr1b T C 9: 15,863,293 T157A probably benign Het
Myo15 G A 11: 60,506,863 E2705K probably damaging Het
Ncf2 A G 1: 152,836,120 probably benign Het
Nfkbil1 G A 17: 35,220,958 T193M probably benign Het
Nmi T G 2: 51,960,629 K9T possibly damaging Het
Olfr494 T C 7: 108,367,535 F15S probably damaging Het
Olfr710 T C 7: 106,944,113 D296G possibly damaging Het
Olfr804 A G 10: 129,705,235 D119G probably damaging Het
Osbpl7 T A 11: 97,060,508 C502S probably benign Het
Pex5 A T 6: 124,405,281 probably benign Het
Pkhd1l1 T A 15: 44,493,056 probably null Het
Prmt3 C T 7: 49,828,963 T424M possibly damaging Het
Rapgef4 G A 2: 72,198,796 G404D probably damaging Het
Rbm5 C T 9: 107,755,846 probably benign Het
Rfc2 T A 5: 134,594,244 F238L probably benign Het
Rsl1 A G 13: 67,176,548 E46G probably damaging Het
Sall1 A G 8: 89,031,469 F669S probably damaging Het
Sipa1l2 A G 8: 125,491,819 S260P probably benign Het
Slc26a8 A G 17: 28,642,251 Y820H probably damaging Het
Tas2r115 A G 6: 132,737,467 F174L probably benign Het
Terb1 A C 8: 104,495,114 C185G probably damaging Het
Vmn2r108 A T 17: 20,463,136 V602E probably damaging Het
Vmn2r58 T A 7: 41,865,279 I89F probably damaging Het
Vps13b G T 15: 35,423,245 R237L probably damaging Het
Zfp865 T C 7: 5,031,373 S786P probably benign 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
IGL00771:Cds2 APN 2 132304352 splice site probably benign
IGL00984:Cds2 APN 2 132298521 missense probably benign 0.02
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 On2014-05-07