Incidental Mutation 'R8245:Cdipt'
ID 640816
Institutional Source Beutler Lab
Gene Symbol Cdipt
Ensembl Gene ENSMUSG00000030682
Gene Name CDP-diacylglycerol--inositol 3-phosphatidyltransferase
Synonyms 9530042F15Rik, D7Bwg0575e
MMRRC Submission 067673-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8245 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 126575630-126579671 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 126578732 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Isoleucine at position 174 (M174I)
Ref Sequence ENSEMBL: ENSMUSP00000032920 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032920] [ENSMUST00000205437] [ENSMUST00000205830] [ENSMUST00000205903] [ENSMUST00000206170] [ENSMUST00000206296] [ENSMUST00000206346] [ENSMUST00000206450] [ENSMUST00000206780] [ENSMUST00000206794] [ENSMUST00000206816]
AlphaFold Q8VDP6
Predicted Effect probably benign
Transcript: ENSMUST00000032920
AA Change: M174I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032920
Gene: ENSMUSG00000030682
AA Change: M174I

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000205437
Predicted Effect probably benign
Transcript: ENSMUST00000205830
AA Change: M146I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000205903
Predicted Effect probably benign
Transcript: ENSMUST00000206170
Predicted Effect probably benign
Transcript: ENSMUST00000206296
Predicted Effect probably benign
Transcript: ENSMUST00000206346
Predicted Effect possibly damaging
Transcript: ENSMUST00000206450
AA Change: W147L

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000206780
Predicted Effect probably benign
Transcript: ENSMUST00000206794
Predicted Effect probably benign
Transcript: ENSMUST00000206816
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 98% (63/64)
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 T A 6: 142,539,870 (GRCm39) probably null Het
Adam4 A T 12: 81,466,657 (GRCm39) C655S probably damaging Het
Adamts13 A C 2: 26,880,568 (GRCm39) D717A probably damaging Het
Atf7ip2 A G 16: 10,019,262 (GRCm39) N30S possibly damaging Het
Bmp8b T C 4: 123,008,532 (GRCm39) V166A probably benign Het
Bpifb9a G A 2: 154,104,646 (GRCm39) G261R probably benign Het
Cep128 T C 12: 90,966,419 (GRCm39) T1063A probably benign Het
Ciao1 A G 2: 127,088,404 (GRCm39) Y140H probably damaging Het
Cngb1 A G 8: 96,024,408 (GRCm39) S217P unknown Het
Cnot2 T A 10: 116,346,294 (GRCm39) I103F probably benign Het
Col27a1 T G 4: 63,144,040 (GRCm39) V576G probably damaging Het
Dapk1 T A 13: 60,878,710 (GRCm39) H566Q probably benign Het
Dhrs2 T A 14: 55,478,637 (GRCm39) C261S possibly damaging Het
Ercc4 G C 16: 12,948,001 (GRCm39) R406P probably benign Het
Fer1l4 A G 2: 155,886,934 (GRCm39) probably null Het
Fhod3 T A 18: 25,246,673 (GRCm39) F1293Y probably damaging Het
Fsip1 T A 2: 118,075,359 (GRCm39) K218M unknown Het
Fsip2 G T 2: 82,811,346 (GRCm39) S2555I possibly damaging Het
Gfpt2 A G 11: 49,714,785 (GRCm39) K358E probably benign Het
Gm9637 A T 14: 19,402,598 (GRCm38) V1D noncoding transcript Het
H2-M10.6 T C 17: 37,124,155 (GRCm39) probably null Het
Hand2 A G 8: 57,774,994 (GRCm39) Y18C probably damaging Het
Helz2 A T 2: 180,879,895 (GRCm39) V607E probably damaging Het
Hps5 G A 7: 46,418,485 (GRCm39) R862* probably null Het
Ildr1 A G 16: 36,529,883 (GRCm39) D90G probably damaging Het
Ints12 A G 3: 132,814,633 (GRCm39) N280S probably benign Het
Ippk C T 13: 49,599,818 (GRCm39) P226S Het
Itpr2 T A 6: 146,274,604 (GRCm39) K859N probably damaging Het
Lhx9 G T 1: 138,766,179 (GRCm39) A212D probably benign Het
Myo6 C T 9: 80,162,229 (GRCm39) T322I unknown Het
Ndufaf4 A G 4: 24,898,648 (GRCm39) D71G probably benign Het
Nrp1 T A 8: 129,214,434 (GRCm39) S641T probably benign Het
Nudt7 A T 8: 114,863,080 (GRCm39) N37I probably damaging Het
Obscn T A 11: 58,913,066 (GRCm39) I271F Het
Or2ag16 T C 7: 106,352,374 (GRCm39) T74A probably benign Het
Or4d2b G A 11: 87,780,443 (GRCm39) S93F probably damaging Het
Or6c5b T C 10: 129,245,975 (GRCm39) S247P probably damaging Het
Or7g18 T C 9: 18,787,126 (GRCm39) Y168H probably benign Het
Or9g4b A G 2: 85,616,119 (GRCm39) E88G probably benign Het
Oxa1l T C 14: 54,605,274 (GRCm39) S317P probably damaging Het
Poglut2 A T 1: 44,156,226 (GRCm39) H120Q probably benign Het
Polr2a C T 11: 69,630,779 (GRCm39) R1213H probably damaging Het
Postn A T 3: 54,283,468 (GRCm39) S516C probably null Het
Rabep2 A G 7: 126,039,580 (GRCm39) T336A possibly damaging Het
Ralgapb G A 2: 158,285,256 (GRCm39) C585Y probably damaging Het
Rexo4 A G 2: 26,850,350 (GRCm39) S276P probably damaging Het
Rsf1 GGCGGCGGC GGCGGCGGCTGCGGCGGC 7: 97,229,122 (GRCm39) probably benign Het
Sall3 G A 18: 81,016,969 (GRCm39) P320S probably benign Het
Sipa1l3 A G 7: 29,099,789 (GRCm39) L160P probably damaging Het
Sphkap A G 1: 83,256,492 (GRCm39) F419S probably benign Het
Stag1 C A 9: 100,811,946 (GRCm39) T808K probably benign Het
Stam2 G T 2: 52,604,931 (GRCm39) N201K possibly damaging Het
Stat1 G A 1: 52,194,178 (GRCm39) R704Q probably benign Het
Tacc2 A G 7: 130,331,303 (GRCm39) D2236G probably damaging Het
Thsd7a T A 6: 12,379,592 (GRCm39) Y944F Het
Tmem225 G T 9: 40,061,955 (GRCm39) V190F probably damaging Het
Tonsl A T 15: 76,521,022 (GRCm39) V400D probably benign Het
Tpp2 G A 1: 44,022,712 (GRCm39) G971D probably damaging Het
Trh C T 6: 92,220,050 (GRCm39) V89I probably benign Het
Txlnb A G 10: 17,717,205 (GRCm39) D404G probably damaging Het
Uggt1 A G 1: 36,204,645 (GRCm39) V990A probably damaging Het
Vmn1r179 T A 7: 23,628,396 (GRCm39) Y196N possibly damaging Het
Vmn2r8 T C 5: 108,945,936 (GRCm39) D557G probably damaging Het
Zfp516 G T 18: 82,974,458 (GRCm39) G219C probably damaging Het
Other mutations in Cdipt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01845:Cdipt APN 7 126,578,725 (GRCm39) missense possibly damaging 0.84
R0063:Cdipt UTSW 7 126,578,772 (GRCm39) missense probably benign
R0063:Cdipt UTSW 7 126,578,772 (GRCm39) missense probably benign
R0446:Cdipt UTSW 7 126,577,436 (GRCm39) missense probably damaging 1.00
R0578:Cdipt UTSW 7 126,578,702 (GRCm39) splice site probably null
R0828:Cdipt UTSW 7 126,576,092 (GRCm39) missense probably damaging 1.00
R2020:Cdipt UTSW 7 126,576,105 (GRCm39) missense possibly damaging 0.69
R4669:Cdipt UTSW 7 126,577,578 (GRCm39) missense possibly damaging 0.82
R4731:Cdipt UTSW 7 126,577,530 (GRCm39) missense probably damaging 1.00
R4732:Cdipt UTSW 7 126,577,530 (GRCm39) missense probably damaging 1.00
R4733:Cdipt UTSW 7 126,577,530 (GRCm39) missense probably damaging 1.00
R5590:Cdipt UTSW 7 126,578,704 (GRCm39) splice site probably null
R5870:Cdipt UTSW 7 126,578,094 (GRCm39) missense probably benign 0.28
R6034:Cdipt UTSW 7 126,577,497 (GRCm39) missense probably damaging 0.99
R6034:Cdipt UTSW 7 126,577,497 (GRCm39) missense probably damaging 0.99
R6084:Cdipt UTSW 7 126,578,773 (GRCm39) missense probably benign 0.10
R6090:Cdipt UTSW 7 126,576,131 (GRCm39) missense possibly damaging 0.94
R7571:Cdipt UTSW 7 126,578,794 (GRCm39) missense probably benign 0.05
R8929:Cdipt UTSW 7 126,578,825 (GRCm39) missense probably damaging 0.99
R9717:Cdipt UTSW 7 126,576,202 (GRCm39) unclassified probably benign
Z1177:Cdipt UTSW 7 126,576,116 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCACCCTGTGTGCTGGAAATG -3'
(R):5'- CGTGGTACAGTAGATACCCAGG -3'

Sequencing Primer
(F):5'- CCCTGTGTGCTGGAAATGAACTC -3'
(R):5'- ATACCCAGGGCAGGTGGAC -3'
Posted On 2020-07-28