Incidental Mutation 'R0063:Cdipt'
ID 16987
Institutional Source Beutler Lab
Gene Symbol Cdipt
Ensembl Gene ENSMUSG00000030682
Gene Name CDP-diacylglycerol--inositol 3-phosphatidyltransferase
Synonyms 9530042F15Rik, D7Bwg0575e
MMRRC Submission 038355-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0063 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 126575630-126579671 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 126578772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 160 (V160I)
Ref Sequence ENSEMBL: ENSMUSP00000145787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032920] [ENSMUST00000205437] [ENSMUST00000205830] [ENSMUST00000205903] [ENSMUST00000206450] [ENSMUST00000206170] [ENSMUST00000206346] [ENSMUST00000206780] [ENSMUST00000206296] [ENSMUST00000206816] [ENSMUST00000206794]
AlphaFold Q8VDP6
Predicted Effect probably benign
Transcript: ENSMUST00000032920
AA Change: V188I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000032920
Gene: ENSMUSG00000030682
AA Change: V188I

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 probably benign
Transcript: ENSMUST00000205830
AA Change: V160I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000205903
Predicted Effect silent
Transcript: ENSMUST00000206450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206667
Predicted Effect probably benign
Transcript: ENSMUST00000206170
Predicted Effect probably benign
Transcript: ENSMUST00000206346
Predicted Effect probably benign
Transcript: ENSMUST00000206780
Predicted Effect probably benign
Transcript: ENSMUST00000206296
Predicted Effect probably benign
Transcript: ENSMUST00000206816
Predicted Effect probably benign
Transcript: ENSMUST00000206794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206964
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 89.1%
  • 3x: 86.1%
  • 10x: 78.0%
  • 20x: 64.7%
Validation Efficiency 99% (86/87)
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik C T 16: 4,678,912 (GRCm39) R245* probably null Het
4930563I02Rik T A 14: 60,333,477 (GRCm39) probably benign Het
Acss1 T C 2: 150,469,212 (GRCm39) T435A probably damaging Het
Aoc2 T A 11: 101,216,897 (GRCm39) S327T probably damaging Het
Arid5a T A 1: 36,357,645 (GRCm39) Y252N probably damaging Het
AU040320 T C 4: 126,733,465 (GRCm39) Y662H probably damaging Het
Bcam C T 7: 19,500,773 (GRCm39) V134I probably benign Het
Btbd16 A T 7: 130,424,896 (GRCm39) T426S probably benign Het
Cap2 T C 13: 46,791,508 (GRCm39) probably benign Het
Capn8 T A 1: 182,429,677 (GRCm39) D299E probably damaging Het
Cyb5r3 T C 15: 83,046,137 (GRCm39) T60A probably benign Het
Dazl T C 17: 152,705,859 (NCBIm37) T212A probably damaging Het
Dgkb T G 12: 38,654,112 (GRCm39) S744A probably benign Het
Dock2 T A 11: 34,647,111 (GRCm39) probably null Het
Ece2 A G 16: 20,461,067 (GRCm39) T442A probably benign Het
Elapor2 T C 5: 9,490,709 (GRCm39) probably benign Het
Emid1 A T 11: 5,139,704 (GRCm38) probably benign Het
Eml3 C A 19: 8,915,842 (GRCm39) A644D probably damaging Het
Foxp1 A G 6: 98,921,684 (GRCm39) probably benign Het
Ints8 T C 4: 11,252,857 (GRCm39) N75S probably damaging Het
Irs1 T A 1: 82,266,580 (GRCm39) E545D probably damaging Het
Lama3 T C 18: 12,661,762 (GRCm39) probably benign Het
Nat8f2 A T 6: 85,844,815 (GRCm39) S182R possibly damaging Het
Nrcam G T 12: 44,596,811 (GRCm39) V343F possibly damaging Het
Pdk2 T C 11: 94,923,306 (GRCm39) H106R probably benign Het
Pkhd1 G A 1: 20,282,174 (GRCm39) T2889I probably benign Het
Pkhd1l1 T A 15: 44,392,633 (GRCm39) L1656H probably damaging Het
Plxna2 A T 1: 194,327,247 (GRCm39) T394S probably benign Het
Pnpla8 T A 12: 44,329,615 (GRCm39) C56S probably damaging Het
Prdm8 G T 5: 98,332,453 (GRCm39) R118L probably damaging Het
Prkce T C 17: 86,789,539 (GRCm39) probably benign Het
Ptprk T A 10: 28,139,763 (GRCm39) Y163N probably damaging Het
Rbbp8 T A 18: 11,867,614 (GRCm39) probably benign Het
Sephs1 A G 2: 4,904,371 (GRCm39) T250A probably benign Het
Slc2a2 T C 3: 28,771,589 (GRCm39) M173T probably damaging Het
Slc2a8 T A 2: 32,870,011 (GRCm39) probably null Het
Tmem131 C T 1: 36,858,209 (GRCm39) V713I probably benign Het
Tmem89 A G 9: 108,743,880 (GRCm39) N60S probably benign Het
Trio G T 15: 27,881,523 (GRCm39) probably benign Het
Tulp2 T C 7: 45,170,284 (GRCm39) probably benign Het
Uggt2 A G 14: 119,244,542 (GRCm39) probably benign Het
Vwa8 A G 14: 79,401,656 (GRCm39) probably benign Het
Xirp2 A G 2: 67,339,427 (GRCm39) D556G probably damaging Het
Xrn1 T C 9: 95,851,588 (GRCm39) L202P probably damaging Het
Zfp354a A T 11: 50,960,398 (GRCm39) H203L 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
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
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
Posted On 2013-01-20