Incidental Mutation 'IGL00433:Cds2'
ID9576
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 #IGL00433
Quality Score
Status
Chromosome2
Chromosomal Location132263148-132312050 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 132297293 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 152 (V152A)
Ref Sequence ENSEMBL: ENSMUSP00000099470 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089461] [ENSMUST00000103181] [ENSMUST00000110158] [ENSMUST00000125060] [ENSMUST00000147456]
Predicted Effect probably damaging
Transcript: ENSMUST00000089461
AA Change: V135A

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793
AA Change: V135A

DomainStartEndE-ValueType
Pfam:CTP_transf_1 52 382 5e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103181
AA Change: V152A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793
AA Change: V152A

DomainStartEndE-ValueType
Pfam:CTP_transf_1 69 399 7.6e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110158
SMART Domains Protein: ENSMUSP00000105786
Gene: ENSMUSG00000058793

DomainStartEndE-ValueType
Pfam:CTP_transf_1 69 129 3.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125060
Predicted Effect probably benign
Transcript: ENSMUST00000138194
SMART Domains Protein: ENSMUSP00000121769
Gene: ENSMUSG00000058793

DomainStartEndE-ValueType
Pfam:CTP_transf_1 3 126 8.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147456
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts20 G A 15: 94,394,641 A196V probably benign Het
BC024139 A G 15: 76,125,100 V238A probably benign Het
Bfar G A 16: 13,698,963 D350N probably benign Het
C4b A T 17: 34,742,041 F217Y possibly damaging Het
Camk1g T C 1: 193,347,349 probably benign Het
Camkmt A G 17: 85,096,666 probably benign Het
Cass4 T C 2: 172,416,250 L56P probably damaging Het
Ccs A G 19: 4,825,608 I243T possibly damaging Het
Chd1l T C 3: 97,590,605 N307D probably damaging Het
Cmtm2b T C 8: 104,330,446 I146T possibly damaging Het
Cntnap3 T C 13: 64,772,731 Y608C probably damaging Het
Cog5 A G 12: 31,685,704 R157G probably damaging Het
Csmd1 A C 8: 16,231,373 F713V probably damaging Het
Csrp3 T C 7: 48,830,692 N175D probably benign Het
Exoc4 A G 6: 33,296,788 D176G probably damaging Het
Fam57a T C 11: 76,207,991 F164L probably damaging Het
Fbxo10 T C 4: 45,058,684 D351G probably damaging Het
Gm12185 A T 11: 48,907,222 S815T probably benign Het
Gpld1 A G 13: 24,986,922 probably benign Het
Hspa2 T C 12: 76,406,349 C606R possibly damaging Het
Leo1 C T 9: 75,450,480 probably benign Het
Mta3 C T 17: 83,708,432 P21L probably damaging Het
Pkn1 T C 8: 83,681,006 E471G probably damaging Het
Postn C T 3: 54,373,728 R425C probably damaging Het
Reln A G 5: 22,045,009 L676P probably damaging Het
Sin3a G A 9: 57,097,901 V362M probably damaging Het
Slc6a7 C T 18: 61,001,291 probably null Het
Smc6 A T 12: 11,299,263 D749V possibly damaging Het
Smg5 C T 3: 88,351,428 Q569* probably null Het
Sspo G A 6: 48,490,036 C4130Y probably damaging Het
Tnn A T 1: 160,098,206 probably benign Het
Tomt C T 7: 101,902,186 R29H probably benign Het
Uggt2 A T 14: 119,013,487 D1199E probably benign Het
Usp33 A G 3: 152,373,409 K433E probably benign Het
Vmn2r89 A G 14: 51,454,965 Y75C probably damaging Het
Wnt7a C T 6: 91,365,991 G303D probably damaging Het
Other mutations in Cds2
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R7413:Cds2 UTSW 2 132293315 missense probably benign 0.03
R7983:Cds2 UTSW 2 132263510 splice site probably null
Posted On2012-12-06