Incidental Mutation 'R5431:Cds2'
ID 428035
Institutional Source Beutler Lab
Gene Symbol Cds2
Ensembl Gene ENSMUSG00000058793
Gene Name CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2
Synonyms 5730460C18Rik, 5730450N06Rik, D2Wsu127e
MMRRC Submission 042847-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5431 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 132263148-132312050 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 132302170 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 289 (S289T)
Ref Sequence ENSEMBL: ENSMUSP00000086886 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089461] [ENSMUST00000103181] [ENSMUST00000147456]
AlphaFold Q99L43
Predicted Effect probably benign
Transcript: ENSMUST00000089461
AA Change: S289T

PolyPhen 2 Score 0.281 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000086886
Gene: ENSMUSG00000058793
AA Change: S289T

Pfam:CTP_transf_1 52 382 5e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000103181
AA Change: S306T

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099470
Gene: ENSMUSG00000058793
AA Change: S306T

Pfam:CTP_transf_1 69 399 7.6e-90 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000138194
AA Change: S32T
SMART Domains Protein: ENSMUSP00000121769
Gene: ENSMUSG00000058793
AA Change: S32T

Pfam:CTP_transf_1 3 126 8.7e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147456
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,707,538 (GRCm38) S124G possibly damaging Het
4921539E11Rik T C 4: 103,270,848 (GRCm38) T27A probably benign Het
Aspg T A 12: 112,123,412 (GRCm38) N461K probably benign Het
B4galnt3 T A 6: 120,218,967 (GRCm38) T300S probably damaging Het
BC035044 A G 6: 128,885,007 (GRCm38) probably benign Het
Bmp5 C T 9: 75,893,709 (GRCm38) P374S probably damaging Het
C330018D20Rik A T 18: 56,957,856 (GRCm38) F78L probably benign Het
Cerkl C T 2: 79,341,335 (GRCm38) C393Y probably damaging Het
Ciita C T 16: 10,523,792 (GRCm38) R1020C probably damaging Het
Dcaf13 C A 15: 39,123,224 (GRCm38) D130E probably benign Het
Dnal4 C T 15: 79,762,447 (GRCm38) G50R probably damaging Het
Elfn1 A G 5: 139,971,568 (GRCm38) N109S probably damaging Het
Ep400 A G 5: 110,676,554 (GRCm38) V2435A unknown Het
Fam178b T C 1: 36,632,485 (GRCm38) E185G probably damaging Het
Fam227b C A 2: 126,126,931 (GRCm38) L74F probably benign Het
Fam92b C A 8: 120,167,303 (GRCm38) probably null Het
Fgfr4 G A 13: 55,156,651 (GRCm38) V138I probably benign Het
Flnc A G 6: 29,456,384 (GRCm38) I2161V possibly damaging Het
Frmd5 T C 2: 121,562,909 (GRCm38) N235S probably damaging Het
Gad1-ps G A 10: 99,445,147 (GRCm38) noncoding transcript Het
Ggt6 A G 11: 72,437,738 (GRCm38) T355A possibly damaging Het
Gm14393 G A 2: 175,063,876 (GRCm38) T41I probably damaging Het
Gpr151 A C 18: 42,578,867 (GRCm38) S249A probably damaging Het
Gpr152 T A 19: 4,143,747 (GRCm38) V429D probably benign Het
Grm7 G A 6: 111,358,426 (GRCm38) M599I probably benign Het
Hdac4 T A 1: 91,972,790 (GRCm38) R54* probably null Het
Ice1 A G 13: 70,592,650 (GRCm38) L2146S probably damaging Het
Igfbpl1 C T 4: 45,815,588 (GRCm38) V183I probably benign Het
Kel G A 6: 41,698,420 (GRCm38) S299F probably benign Het
Kif14 T C 1: 136,496,695 (GRCm38) I1016T possibly damaging Het
Lhx3 T C 2: 26,201,118 (GRCm38) D395G probably damaging Het
Micu1 T C 10: 59,750,521 (GRCm38) Y140H possibly damaging Het
Myt1l G A 12: 29,832,332 (GRCm38) G509R unknown Het
Nbn C T 4: 15,986,593 (GRCm38) H665Y probably benign Het
Pkhd1 G T 1: 20,117,836 (GRCm38) T3416K probably benign Het
Plxnb1 T C 9: 109,100,772 (GRCm38) F232S probably damaging Het
Pus7l T C 15: 94,529,486 (GRCm38) N472D probably damaging Het
Rfx1 C T 8: 84,082,720 (GRCm38) Q225* probably null Het
Rnase2a T C 14: 51,255,563 (GRCm38) Y115C possibly damaging Het
Ryr1 T A 7: 29,109,812 (GRCm38) D386V probably benign Het
Sfi1 A ATCTTCCCAAAGCCAGTGC 11: 3,153,384 (GRCm38) probably benign Homo
Sgcz T A 8: 37,639,984 (GRCm38) T125S probably damaging Het
Sntb1 C G 15: 55,642,795 (GRCm38) G461R probably damaging Het
Syt2 A G 1: 134,740,957 (GRCm38) S36G probably benign Het
Tcaf3 A G 6: 42,597,185 (GRCm38) L31P probably damaging Het
Tenm3 C A 8: 48,367,377 (GRCm38) E142* probably null Het
Tgfbr2 G T 9: 116,131,601 (GRCm38) S94R probably damaging Het
Vmn2r12 A G 5: 109,091,818 (GRCm38) I293T probably damaging Het
Wrap73 G A 4: 154,145,274 (GRCm38) R34Q probably damaging Het
Zc3h14 A G 12: 98,780,065 (GRCm38) D511G possibly damaging Het
Zcchc11 T A 4: 108,491,412 (GRCm38) I297N probably damaging Het
Other mutations in Cds2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00433:Cds2 APN 2 132,297,293 (GRCm38) missense probably damaging 1.00
IGL00434:Cds2 APN 2 132,293,351 (GRCm38) missense probably damaging 0.99
IGL00771:Cds2 APN 2 132,304,352 (GRCm38) splice site probably benign
IGL00984:Cds2 APN 2 132,298,521 (GRCm38) missense probably benign 0.02
IGL02041:Cds2 APN 2 132,294,443 (GRCm38) missense possibly damaging 0.94
sugarless UTSW 2 132,298,483 (GRCm38) missense probably damaging 1.00
R0045:Cds2 UTSW 2 132,305,155 (GRCm38) missense possibly damaging 0.67
R0045:Cds2 UTSW 2 132,305,155 (GRCm38) missense possibly damaging 0.67
R0452:Cds2 UTSW 2 132,298,479 (GRCm38) missense probably damaging 0.99
R0455:Cds2 UTSW 2 132,285,967 (GRCm38) critical splice donor site probably null
R0593:Cds2 UTSW 2 132,297,376 (GRCm38) unclassified probably benign
R0831:Cds2 UTSW 2 132,285,967 (GRCm38) critical splice donor site probably null
R1053:Cds2 UTSW 2 132,305,260 (GRCm38) missense probably damaging 1.00
R1669:Cds2 UTSW 2 132,295,519 (GRCm38) splice site probably null
R1740:Cds2 UTSW 2 132,302,213 (GRCm38) missense possibly damaging 0.63
R1859:Cds2 UTSW 2 132,302,195 (GRCm38) missense probably damaging 1.00
R4125:Cds2 UTSW 2 132,297,271 (GRCm38) missense probably benign 0.00
R4126:Cds2 UTSW 2 132,297,271 (GRCm38) missense probably benign 0.00
R4128:Cds2 UTSW 2 132,297,271 (GRCm38) missense probably benign 0.00
R4352:Cds2 UTSW 2 132,263,445 (GRCm38) start codon destroyed probably null 0.37
R4467:Cds2 UTSW 2 132,294,446 (GRCm38) nonsense probably null
R4698:Cds2 UTSW 2 132,304,953 (GRCm38) missense probably damaging 0.97
R4704:Cds2 UTSW 2 132,300,602 (GRCm38) nonsense probably null
R4917:Cds2 UTSW 2 132,298,478 (GRCm38) missense probably damaging 0.98
R5070:Cds2 UTSW 2 132,302,088 (GRCm38) nonsense probably null
R5199:Cds2 UTSW 2 132,298,483 (GRCm38) missense probably damaging 1.00
R5704:Cds2 UTSW 2 132,293,329 (GRCm38) missense probably benign 0.01
R5858:Cds2 UTSW 2 132,302,113 (GRCm38) missense probably benign 0.00
R5946:Cds2 UTSW 2 132,297,248 (GRCm38) missense probably damaging 1.00
R5954:Cds2 UTSW 2 132,297,271 (GRCm38) missense probably benign 0.00
R7195:Cds2 UTSW 2 132,293,284 (GRCm38) missense probably benign 0.28
R7234:Cds2 UTSW 2 132,304,480 (GRCm38) critical splice donor site probably null
R7413:Cds2 UTSW 2 132,293,315 (GRCm38) missense probably benign 0.03
R7983:Cds2 UTSW 2 132,263,510 (GRCm38) splice site probably null
R9036:Cds2 UTSW 2 132,297,694 (GRCm38) critical splice donor site probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2016-09-01