Incidental Mutation 'R4732:Cdipt'
ID 470494
Institutional Source Beutler Lab
Gene Symbol Cdipt
Ensembl Gene ENSMUSG00000030682
Gene Name CDP-diacylglycerol--inositol 3-phosphatidyltransferase (phosphatidylinositol synthase)
Synonyms D7Bwg0575e, 9530042F15Rik
MMRRC Submission 042022-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4732 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 126975914-126980501 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 126978358 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 92 (L92H)
Ref Sequence ENSEMBL: ENSMUSP00000146256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032920] [ENSMUST00000205437] [ENSMUST00000205830] [ENSMUST00000205903] [ENSMUST00000206170] [ENSMUST00000206296] [ENSMUST00000206346] [ENSMUST00000206450] [ENSMUST00000206794] [ENSMUST00000206780] [ENSMUST00000206816]
AlphaFold Q8VDP6
Predicted Effect probably damaging
Transcript: ENSMUST00000032920
AA Change: L92H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032920
Gene: ENSMUSG00000030682
AA Change: L92H

Pfam:CDP-OH_P_transf 9 72 2.4e-16 PFAM
transmembrane domain 141 160 N/A INTRINSIC
transmembrane domain 175 197 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181859
Predicted Effect probably benign
Transcript: ENSMUST00000205437
Predicted Effect probably damaging
Transcript: ENSMUST00000205830
AA Change: L64H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000205903
Predicted Effect probably damaging
Transcript: ENSMUST00000206170
AA Change: L92H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000206296
Predicted Effect probably damaging
Transcript: ENSMUST00000206346
AA Change: L92H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000206450
AA Change: L92H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206667
Predicted Effect probably damaging
Transcript: ENSMUST00000206794
AA Change: L92H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Predicted Effect probably damaging
Transcript: ENSMUST00000206780
AA Change: L27H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
Predicted Effect probably benign
Transcript: ENSMUST00000206816
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206964
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.1%
Validation Efficiency 99% (110/111)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Phosphatidylinositol breakdown products 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. Two enzymes, CDP-diacylglycerol synthase and phosphatidylinositol synthase, are involved in the biosynthesis of phosphatidylinositol. Phosphatidylinositol synthase, a member of the CDP-alcohol phosphatidyl transferase class-I family, is an integral membrane protein found on the cytoplasmic side of the endoplasmic reticulum and the Golgi apparatus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2013]
Allele List at MGI
Other mutations in this stock
Total: 192 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700128F08Rik T A 9: 8,222,173 (GRCm38) noncoding transcript Het
3110035E14Rik T C 1: 9,606,976 (GRCm38) S24P probably benign Het
4933409G03Rik A G 2: 68,614,721 (GRCm38) probably benign Het
Acan T C 7: 79,098,609 (GRCm38) S1043P probably damaging Het
Ackr2 A G 9: 121,909,183 (GRCm38) Y208C probably damaging Het
Actg1 C T 11: 120,347,479 (GRCm38) probably benign Het
Adam1a T A 5: 121,519,434 (GRCm38) T599S probably benign Het
Adamts12 A T 15: 11,270,662 (GRCm38) S668C probably damaging Het
Adcy8 A G 15: 64,754,862 (GRCm38) V709A possibly damaging Het
Adgrf2 A C 17: 42,710,754 (GRCm38) I393S probably damaging Het
Ahnak G T 19: 9,007,301 (GRCm38) G1983V probably damaging Het
AI413582 A G 17: 27,565,270 (GRCm38) probably benign Het
Aim2 T A 1: 173,463,876 (GRCm38) D282E possibly damaging Het
Ak8 A G 2: 28,760,071 (GRCm38) Y370C probably damaging Het
Akap9 A G 5: 4,013,901 (GRCm38) D1750G probably damaging Het
Als2cl T A 9: 110,889,136 (GRCm38) V315E probably damaging Het
Ankrd28 A C 14: 31,755,741 (GRCm38) C115G probably benign Het
Ap3b2 C T 7: 81,471,932 (GRCm38) A519T probably damaging Het
Apool C T X: 112,372,200 (GRCm38) T166I probably damaging Het
Arhgef2 A T 3: 88,631,940 (GRCm38) K65* probably null Het
Arhgef38 G T 3: 133,132,269 (GRCm38) Y633* probably null Het
Asah2 T C 19: 31,995,358 (GRCm38) N659S probably benign Het
Atf7ip2 A G 16: 10,241,886 (GRCm38) D430G possibly damaging Het
Atp8a1 G A 5: 67,813,120 (GRCm38) S92L probably benign Het
Bag4 C T 8: 25,769,488 (GRCm38) A228T probably benign Het
BC024978 T A 7: 27,201,043 (GRCm38) M149K probably damaging Het
C130073F10Rik C A 4: 101,890,710 (GRCm38) S89I probably benign Het
Cacna1g T C 11: 94,443,215 (GRCm38) T867A probably damaging Het
Ccdc88a T G 11: 29,485,906 (GRCm38) N1276K probably benign Het
Cdc42bpg T A 19: 6,311,191 (GRCm38) V282E probably damaging Het
Celsr2 T A 3: 108,398,952 (GRCm38) D2012V probably damaging Het
Cenpt A G 8: 105,847,136 (GRCm38) V254A probably benign Het
Cep104 T A 4: 153,988,426 (GRCm38) D380E probably damaging Het
Cers5 C T 15: 99,741,637 (GRCm38) R123Q probably benign Het
Ces2h A G 8: 105,014,604 (GRCm38) E76G probably damaging Het
Cfap77 T A 2: 28,984,388 (GRCm38) E143D probably benign Het
Chmp7 C A 14: 69,732,296 (GRCm38) R65L probably damaging Het
Cldnd2 T A 7: 43,442,189 (GRCm38) C65S possibly damaging Het
Clec2g C A 6: 128,981,879 (GRCm38) Y142* probably null Het
Coch A T 12: 51,605,019 (GRCm38) E549V probably benign Het
Cog7 T C 7: 121,964,244 (GRCm38) D215G probably benign Het
Col4a2 A G 8: 11,446,197 (GRCm38) H1606R probably benign Het
Col4a2 T C 8: 11,414,779 (GRCm38) V348A probably benign Het
Cpd T C 11: 76,811,794 (GRCm38) N583D probably damaging Het
Cyp2d11 T A 15: 82,389,227 (GRCm38) Y481F probably benign Het
D130043K22Rik T C 13: 24,899,665 (GRCm38) S1038P probably damaging Het
Deptor C A 15: 55,181,010 (GRCm38) H191N probably benign Het
Dgkz A T 2: 91,938,339 (GRCm38) I699N probably damaging Het
Dnah12 C T 14: 26,781,784 (GRCm38) T1653I probably damaging Het
Dnah7c T A 1: 46,770,173 (GRCm38) N3550K probably damaging Het
Dnah8 A G 17: 30,775,061 (GRCm38) K3384R probably null Het
Dnajc11 A G 4: 151,970,967 (GRCm38) probably benign Het
Dnajc13 CT C 9: 104,186,805 (GRCm38) probably benign Het
Dnhd1 C A 7: 105,673,849 (GRCm38) N521K probably benign Het
Drg2 T C 11: 60,461,396 (GRCm38) probably null Het
Dync1h1 C T 12: 110,649,507 (GRCm38) Q3030* probably null Het
Efhb G A 17: 53,426,244 (GRCm38) T533I probably damaging Het
Eif2d T C 1: 131,164,727 (GRCm38) V374A probably damaging Het
Etfb T C 7: 43,444,200 (GRCm38) V17A probably damaging Het
F5 C T 1: 164,181,657 (GRCm38) T332M probably damaging Het
Fcho1 T C 8: 71,716,795 (GRCm38) T156A probably benign Het
Fn1 A T 1: 71,602,512 (GRCm38) probably null Het
Fnip2 A T 3: 79,481,652 (GRCm38) S561T probably damaging Het
Frs2 T A 10: 117,074,093 (GRCm38) T455S probably benign Het
Fry G A 5: 150,386,007 (GRCm38) E639K Het
Fto T A 8: 91,409,714 (GRCm38) D205E probably damaging Het
Galntl6 G A 8: 58,427,813 (GRCm38) P147L probably damaging Het
Gigyf1 T A 5: 137,524,770 (GRCm38) D844E probably benign Het
Gle1 T C 2: 29,940,232 (GRCm38) S267P probably damaging Het
Glg1 G A 8: 111,187,755 (GRCm38) R466W probably damaging Het
Gm10277 T C 11: 77,786,097 (GRCm38) probably benign Het
Gm20388 A G 8: 122,270,274 (GRCm38) probably benign Het
Gm5724 A T 6: 141,723,179 (GRCm38) M509K probably benign Het
Gm6871 T C 7: 41,546,749 (GRCm38) I39V probably benign Het
Gm9970 A G 5: 31,241,066 (GRCm38) probably benign Het
Gpr35 T G 1: 92,983,385 (GRCm38) I57S probably damaging Het
Gprin1 C T 13: 54,739,957 (GRCm38) G168E possibly damaging Het
Gtdc1 A G 2: 44,789,055 (GRCm38) probably benign Het
Gtf3c2 G T 5: 31,160,057 (GRCm38) P586T probably damaging Het
Gucy1a2 A T 9: 3,759,424 (GRCm38) H410L probably benign Het
Gucy2c A G 6: 136,767,152 (GRCm38) S150P probably damaging Het
Ifi214 T C 1: 173,526,591 (GRCm38) Q171R probably benign Het
Ifit1bl1 T C 19: 34,594,321 (GRCm38) I245M probably benign Het
Igkv4-50 T C 6: 69,701,000 (GRCm38) K40R probably benign Het
Igkv8-18 T A 6: 70,356,296 (GRCm38) I74N probably damaging Het
Il2ra T A 2: 11,676,920 (GRCm38) M112K probably benign Het
Itpr2 A G 6: 146,373,173 (GRCm38) F837S probably damaging Het
Kbtbd7 T C 14: 79,428,800 (GRCm38) *691Q probably null Het
Kcnn2 T A 18: 45,560,349 (GRCm38) S331T possibly damaging Het
Khnyn T A 14: 55,886,489 (GRCm38) probably null Het
Kif26a G A 12: 112,175,573 (GRCm38) A754T probably benign Het
Klra3 T A 6: 130,327,132 (GRCm38) Y199F possibly damaging Het
Lhx2 A G 2: 38,359,991 (GRCm38) K274R probably damaging Het
Lrp2 T C 2: 69,533,555 (GRCm38) I313V probably benign Het
Lrrfip1 A T 1: 91,115,647 (GRCm38) E591D probably benign Het
Lrrk2 A C 15: 91,688,849 (GRCm38) E200A probably damaging Het
Lrrk2 G A 15: 91,765,747 (GRCm38) E1696K probably damaging Het
Mast4 A T 13: 102,772,572 (GRCm38) M465K probably damaging Het
Moxd2 T G 6: 40,878,859 (GRCm38) I599L probably benign Het
Mug2 T C 6: 122,071,872 (GRCm38) S866P probably damaging Het
Ncam2 A G 16: 81,434,884 (GRCm38) T79A possibly damaging Het
Ncoa6 C A 2: 155,421,301 (GRCm38) Q404H probably damaging Het
Neb A G 2: 52,279,079 (GRCm38) Y1815H probably damaging Het
Nell1 A G 7: 50,856,217 (GRCm38) D724G probably damaging Het
Nkx3-2 A G 5: 41,762,144 (GRCm38) V167A probably benign Het
Nsun3 C A 16: 62,735,119 (GRCm38) C348F possibly damaging Het
Obox6 A T 7: 15,834,772 (GRCm38) S60T possibly damaging Het
Olfr1 T C 11: 73,395,695 (GRCm38) D109G probably benign Het
Olfr1378 G A 11: 50,969,266 (GRCm38) V83M possibly damaging Het
Olfr138 T A 17: 38,275,547 (GRCm38) Y259N probably damaging Het
Olfr466 T C 13: 65,152,653 (GRCm38) V143A possibly damaging Het
Olfr744 T A 14: 50,618,569 (GRCm38) C116S probably benign Het
Olfr94 T C 17: 37,197,024 (GRCm38) T315A probably damaging Het
Olfr980 A T 9: 40,006,268 (GRCm38) I227N probably damaging Het
Oog2 T A 4: 144,193,941 (GRCm38) probably benign Het
Pabpc1 A T 15: 36,599,284 (GRCm38) V389E probably benign Het
Pank4 A T 4: 154,971,390 (GRCm38) M291L probably benign Het
Pcf11 T C 7: 92,658,833 (GRCm38) D709G probably benign Het
Pcgf1 T A 6: 83,079,957 (GRCm38) probably benign Het
Pcnx A G 12: 81,995,751 (GRCm38) I2256V probably benign Het
Pex6 A G 17: 46,724,707 (GRCm38) probably null Het
Pex6 A G 17: 46,722,288 (GRCm38) D579G probably benign Het
Piezo2 C T 18: 63,030,401 (GRCm38) A2149T probably damaging Het
Pik3c2g A G 6: 139,935,985 (GRCm38) E781G probably benign Het
Pik3r4 G A 9: 105,678,176 (GRCm38) V1111I possibly damaging Het
Pkd1l2 T A 8: 116,995,842 (GRCm38) probably null Het
Plekhg1 T A 10: 3,957,506 (GRCm38) S808T probably benign Het
Pnkp T A 7: 44,860,454 (GRCm38) probably benign Het
Polr3c A T 3: 96,723,661 (GRCm38) F148I probably damaging Het
Ppard A T 17: 28,286,443 (GRCm38) T35S probably benign Het
Ptov1 T C 7: 44,867,109 (GRCm38) D134G probably benign Het
Ptprz1 T A 6: 23,002,610 (GRCm38) S1566R probably benign Het
Pum1 T C 4: 130,718,193 (GRCm38) S158P probably benign Het
Qk T C 17: 10,216,288 (GRCm38) H269R probably damaging Het
Qrsl1 T C 10: 43,876,663 (GRCm38) Y388C probably damaging Het
Rapgef1 T G 2: 29,689,160 (GRCm38) I182S probably damaging Het
Ret T C 6: 118,163,193 (GRCm38) S1013G possibly damaging Het
Rimbp3 A G 16: 17,210,601 (GRCm38) R630G possibly damaging Het
Rnmt A T 18: 68,317,960 (GRCm38) probably benign Het
Ryr2 A T 13: 11,577,909 (GRCm38) M4653K possibly damaging Het
Sacm1l G A 9: 123,590,830 (GRCm38) V553I probably benign Het
Sec31b A T 19: 44,532,677 (GRCm38) S110T probably damaging Het
Serpina3k G A 12: 104,340,860 (GRCm38) G117D probably damaging Het
Sesn2 T C 4: 132,494,591 (GRCm38) Y410C probably damaging Het
Slc24a1 G A 9: 64,949,554 (GRCm38) R24C probably benign Het
Slc35g2 A C 9: 100,552,502 (GRCm38) V372G probably benign Het
Slc7a7 T C 14: 54,408,733 (GRCm38) Y91C probably damaging Het
Slc7a9 T A 7: 35,453,563 (GRCm38) Y135* probably null Het
Slco4a1 A G 2: 180,473,615 (GRCm38) N662D probably damaging Het
Slfn4 T A 11: 83,189,282 (GRCm38) probably benign Het
Slmap T C 14: 26,468,535 (GRCm38) N156S probably damaging Het
Snx18 A G 13: 113,617,774 (GRCm38) S208P probably benign Het
Sorbs1 T A 19: 40,314,689 (GRCm38) R485S probably benign Het
Spib A G 7: 44,528,885 (GRCm38) S154P probably damaging Het
Spty2d1 T C 7: 46,996,110 (GRCm38) D595G probably damaging Het
St7 T A 6: 17,906,516 (GRCm38) probably null Het
Susd1 T C 4: 59,428,029 (GRCm38) T52A possibly damaging Het
Svs2 T A 2: 164,237,123 (GRCm38) D288V possibly damaging Het
Syt7 T A 19: 10,442,924 (GRCm38) I355N probably damaging Het
Tarm1 G A 7: 3,496,900 (GRCm38) Q145* probably null Het
Teddm2 T A 1: 153,850,741 (GRCm38) E76V probably damaging Het
Thsd7b T C 1: 129,613,186 (GRCm38) S343P probably damaging Het
Tigd2 T A 6: 59,211,415 (GRCm38) H422Q probably benign Het
Tle1 T C 4: 72,125,019 (GRCm38) N538D possibly damaging Het
Tmc2 A G 2: 130,261,397 (GRCm38) probably null Het
Tmtc1 A C 6: 148,284,980 (GRCm38) probably null Het
Tns3 C T 11: 8,450,986 (GRCm38) R1104H probably benign Het
Trim6 T C 7: 104,232,648 (GRCm38) Y369H probably damaging Het
Triobp G A 15: 78,967,113 (GRCm38) R489K probably damaging Het
Trpv4 T C 5: 114,622,753 (GRCm38) D732G possibly damaging Het
Trrap G A 5: 144,816,570 (GRCm38) V1883I probably damaging Het
Tsc2 C A 17: 24,603,275 (GRCm38) V1141F possibly damaging Het
Ttn A T 2: 76,943,011 (GRCm38) M2395K unknown Het
Ttn A G 2: 76,899,827 (GRCm38) probably benign Het
Tyrp1 A T 4: 80,844,935 (GRCm38) D353V possibly damaging Het
Ubd A C 17: 37,195,702 (GRCm38) T160P probably benign Het
Ugt2b36 G T 5: 87,081,538 (GRCm38) Y156* probably null Het
Ulk4 G A 9: 121,263,638 (GRCm38) R178* probably null Het
Unc13d A G 11: 116,073,582 (GRCm38) V312A possibly damaging Het
Urb2 G T 8: 124,028,897 (GRCm38) A448S probably damaging Het
Urod G A 4: 116,991,673 (GRCm38) A92V possibly damaging Het
Vmn1r33 T A 6: 66,611,819 (GRCm38) R250S probably benign Het
Vmn1r87 A T 7: 13,132,327 (GRCm38) M11K possibly damaging Het
Vmn2r77 C T 7: 86,800,987 (GRCm38) T147I probably benign Het
Vstm4 A G 14: 32,917,902 (GRCm38) K96E possibly damaging Het
Washc4 A T 10: 83,574,479 (GRCm38) M644L probably benign Het
Wwp1 T C 4: 19,661,990 (GRCm38) D172G probably benign Het
Zbtb38 A T 9: 96,687,684 (GRCm38) V449E probably damaging Het
Zfhx4 T C 3: 5,214,807 (GRCm38) probably benign Het
Zfp229 C T 17: 21,745,286 (GRCm38) H166Y possibly damaging Het
Zfp512b A G 2: 181,588,739 (GRCm38) S453P probably benign Het
Zp2 C A 7: 120,138,120 (GRCm38) V282L probably damaging Het
Other mutations in Cdipt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Cdipt APN 7 126,979,553 (GRCm38) missense possibly damaging 0.84
R0063:Cdipt UTSW 7 126,979,600 (GRCm38) missense probably benign
R0063:Cdipt UTSW 7 126,979,600 (GRCm38) missense probably benign
R0446:Cdipt UTSW 7 126,978,264 (GRCm38) missense probably damaging 1.00
R0578:Cdipt UTSW 7 126,979,530 (GRCm38) splice site probably null
R0828:Cdipt UTSW 7 126,976,920 (GRCm38) missense probably damaging 1.00
R2020:Cdipt UTSW 7 126,976,933 (GRCm38) missense possibly damaging 0.69
R4669:Cdipt UTSW 7 126,978,406 (GRCm38) missense possibly damaging 0.82
R4731:Cdipt UTSW 7 126,978,358 (GRCm38) missense probably damaging 1.00
R4733:Cdipt UTSW 7 126,978,358 (GRCm38) missense probably damaging 1.00
R5590:Cdipt UTSW 7 126,979,532 (GRCm38) splice site probably null
R5870:Cdipt UTSW 7 126,978,922 (GRCm38) missense probably benign 0.28
R6034:Cdipt UTSW 7 126,978,325 (GRCm38) missense probably damaging 0.99
R6034:Cdipt UTSW 7 126,978,325 (GRCm38) missense probably damaging 0.99
R6084:Cdipt UTSW 7 126,979,601 (GRCm38) missense probably benign 0.10
R6090:Cdipt UTSW 7 126,976,959 (GRCm38) missense possibly damaging 0.94
R7571:Cdipt UTSW 7 126,979,622 (GRCm38) missense probably benign 0.05
R8245:Cdipt UTSW 7 126,979,560 (GRCm38) missense probably benign
R8929:Cdipt UTSW 7 126,979,653 (GRCm38) missense probably damaging 0.99
R9717:Cdipt UTSW 7 126,977,030 (GRCm38) unclassified probably benign
Z1177:Cdipt UTSW 7 126,976,944 (GRCm38) missense probably benign 0.01
Predicted Primers
Posted On 2017-03-08