Incidental Mutation 'R6090:Cdipt'
ID 486145
Institutional Source Beutler Lab
Gene Symbol Cdipt
Ensembl Gene ENSMUSG00000030682
Gene Name CDP-diacylglycerol--inositol 3-phosphatidyltransferase
Synonyms 9530042F15Rik, D7Bwg0575e
MMRRC Submission 044247-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6090 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 126575630-126579671 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 126576131 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Leucine at position 29 (M29L)
Ref Sequence ENSEMBL: ENSMUSP00000145918 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032920] [ENSMUST00000205437] [ENSMUST00000205830] [ENSMUST00000205903] [ENSMUST00000206170] [ENSMUST00000206346] [ENSMUST00000206450] [ENSMUST00000206794] [ENSMUST00000206780] [ENSMUST00000206816] [ENSMUST00000206296]
AlphaFold Q8VDP6
Predicted Effect possibly damaging
Transcript: ENSMUST00000032920
AA Change: M29L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000032920
Gene: ENSMUSG00000030682
AA Change: M29L

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 noncoding transcript
Transcript: ENSMUST00000180704
Predicted Effect noncoding transcript
Transcript: ENSMUST00000181859
Predicted Effect probably benign
Transcript: ENSMUST00000205437
Predicted Effect possibly damaging
Transcript: ENSMUST00000205830
AA Change: M1L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000205903
Predicted Effect possibly damaging
Transcript: ENSMUST00000206170
AA Change: M29L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206346
AA Change: M29L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206450
AA Change: M29L

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect possibly damaging
Transcript: ENSMUST00000206794
AA Change: M29L

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206667
Predicted Effect probably benign
Transcript: ENSMUST00000206780
Predicted Effect probably benign
Transcript: ENSMUST00000206816
Predicted Effect probably benign
Transcript: ENSMUST00000206296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206964
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 97.8%
  • 20x: 93.6%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C T 6: 121,624,972 (GRCm39) A450V probably benign Het
Abca8a T C 11: 109,954,048 (GRCm39) probably null Het
Adgrl3 A T 5: 81,660,173 (GRCm39) N246I probably damaging Het
Bmal2 T A 6: 146,731,194 (GRCm39) S500T possibly damaging Het
Chml G T 1: 175,514,624 (GRCm39) Y432* probably null Het
Clasp2 G T 9: 113,681,803 (GRCm39) V320L probably benign Het
Col12a1 G A 9: 79,599,675 (GRCm39) T826M probably damaging Het
Cpsf3 A G 12: 21,345,194 (GRCm39) I169V probably damaging Het
Dhx36 G A 3: 62,404,241 (GRCm39) T234M probably damaging Het
Dhx57 A G 17: 80,571,375 (GRCm39) probably null Het
Dnah1 A T 14: 30,991,382 (GRCm39) I3132N possibly damaging Het
Fbxw20 G T 9: 109,052,431 (GRCm39) Q231K probably benign Het
Gfod1 G T 13: 43,354,437 (GRCm39) Y179* probably null Het
Glg1 T A 8: 111,907,667 (GRCm39) I510F probably damaging Het
Gm10801 TC TCGGC 2: 98,494,151 (GRCm39) probably benign Het
Gse1 C A 8: 121,297,908 (GRCm39) probably benign Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Klrd1 T C 6: 129,572,499 (GRCm39) L97P probably damaging Het
Lgmn A T 12: 102,366,413 (GRCm39) M240K probably damaging Het
Lrp1b A G 2: 41,075,880 (GRCm39) probably null Het
Notch2 A T 3: 98,042,693 (GRCm39) R1353* probably null Het
Or2d2b A G 7: 106,705,456 (GRCm39) V204A possibly damaging Het
Or5t18 A C 2: 86,636,701 (GRCm39) V214G possibly damaging Het
Pcdhb14 G A 18: 37,581,659 (GRCm39) S255N probably benign Het
Pcgf2 C T 11: 97,581,817 (GRCm39) M25I possibly damaging Het
Poll G T 19: 45,544,436 (GRCm39) D328E probably benign Het
Pomgnt2 A T 9: 121,811,863 (GRCm39) L306Q probably damaging Het
Proser1 A T 3: 53,386,088 (GRCm39) M657L probably benign Het
Rbm47 G C 5: 66,183,626 (GRCm39) R326G probably damaging Het
Rdh11 G T 12: 79,235,838 (GRCm39) P37T probably benign Het
Rsph10b A T 5: 143,913,946 (GRCm39) I286L probably benign Het
Septin4 G A 11: 87,480,343 (GRCm39) R238K possibly damaging Het
Sptan1 C T 2: 29,883,899 (GRCm39) R580C probably damaging Het
Stard9 T A 2: 120,524,135 (GRCm39) W777R probably damaging Het
Timd2 T C 11: 46,578,063 (GRCm39) T23A probably benign Het
Tmc4 A G 7: 3,674,052 (GRCm39) Y376H probably damaging Het
Tmem143 A G 7: 45,558,950 (GRCm39) I297M probably benign Het
Togaram1 A G 12: 65,014,575 (GRCm39) T609A probably benign Het
Tyw3 T C 3: 154,302,704 (GRCm39) H10R probably benign Het
Unc13b C A 4: 43,239,306 (GRCm39) H3456Q probably damaging Het
Zfp131 A T 13: 120,237,532 (GRCm39) H275Q 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
R7571:Cdipt UTSW 7 126,578,794 (GRCm39) missense probably benign 0.05
R8245:Cdipt UTSW 7 126,578,732 (GRCm39) missense probably benign
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'- TTCGTGCCTAACCTTATCGG -3'
(R):5'- AGGGTCTAGGTCTTCCACAC -3'

Sequencing Primer
(F):5'- ACCTTATCGGTGAGTGCTGCC -3'
(R):5'- TTATATCCTAGGCAGCTCTCAACGAG -3'
Posted On 2017-08-16