Incidental Mutation 'IGL03336:Pcyt2'
ID417051
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pcyt2
Ensembl Gene ENSMUSG00000025137
Gene Namephosphate cytidylyltransferase 2, ethanolamine
Synonyms1110033E03Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03336
Quality Score
Status
Chromosome11
Chromosomal Location120610087-120617936 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120615932 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 32 (D32G)
Ref Sequence ENSEMBL: ENSMUSP00000101794 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026129] [ENSMUST00000080202] [ENSMUST00000106188] [ENSMUST00000146809]
Predicted Effect probably damaging
Transcript: ENSMUST00000026129
AA Change: D32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: D32G

DomainStartEndE-ValueType
Pfam:CTP_transf_like 26 152 2.6e-32 PFAM
Pfam:CTP_transf_like 235 384 8.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000080202
SMART Domains Protein: ENSMUSP00000079093
Gene: ENSMUSG00000025138

DomainStartEndE-ValueType
coiled coil region 24 48 N/A INTRINSIC
low complexity region 65 78 N/A INTRINSIC
Pfam:SIR2 134 276 1.1e-22 PFAM
low complexity region 393 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106187
Predicted Effect probably damaging
Transcript: ENSMUST00000106188
AA Change: D32G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: D32G

DomainStartEndE-ValueType
Pfam:CTP_transf_2 26 152 9.8e-25 PFAM
Pfam:CTP_transf_2 217 332 2e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154714
Predicted Effect probably benign
Transcript: ENSMUST00000146809
SMART Domains Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138

DomainStartEndE-ValueType
Pfam:SIR2 1 89 1.6e-12 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the formation of CDP-ethanolamine from CTP and phosphoethanolamine in the Kennedy pathway of phospholipid synthesis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a null allele die during embryogenesis prior to embryo turning. Heterozygotes are fertile and display an alteration in hepatic fatty acid composition. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933412E24Rik A G 15: 60,016,402 V63A probably benign Het
Ankrd11 A G 8: 122,891,843 S1757P probably benign Het
Atp8a1 G T 5: 67,729,807 Y629* probably null Het
Cenpf T C 1: 189,652,647 K2479E probably damaging Het
Clip1 G T 5: 123,653,570 S179* probably null Het
Cmya5 A G 13: 93,093,505 S1692P possibly damaging Het
Cyp17a1 T C 19: 46,671,035 S119G probably benign Het
Fndc5 T C 4: 129,139,918 F160L probably benign Het
Muc5b T C 7: 141,864,363 V3682A probably damaging Het
Myh8 G T 11: 67,284,702 D328Y probably damaging Het
Olfr1226 T C 2: 89,193,897 T46A probably benign Het
Olfr566 C T 7: 102,856,616 C222Y probably benign Het
Olfr633 T C 7: 103,947,409 L281P probably damaging Het
Olfr713 T A 7: 107,036,335 M60K probably damaging Het
Olfr772 T C 10: 129,174,229 E264G probably benign Het
Paxbp1 T C 16: 91,034,172 I439V probably benign Het
Pcdhb3 T C 18: 37,302,961 V660A possibly damaging Het
Pdzph1 A T 17: 58,974,234 V351D probably benign Het
Ribc2 C T 15: 85,132,913 Q51* probably null Het
Scn2a A G 2: 65,688,744 E438G probably damaging Het
Slc18a3 T C 14: 32,462,828 probably benign Het
Slc5a1 G A 5: 33,146,943 V296I probably benign Het
Slit3 A T 11: 35,670,101 T958S probably damaging Het
Spag8 C T 4: 43,652,114 probably benign Het
Susd3 A C 13: 49,238,782 S144R probably benign Het
Synpo2 T C 3: 123,114,179 E496G possibly damaging Het
Tbcel T C 9: 42,439,131 T269A probably benign Het
Tmem156 A G 5: 65,075,764 Y152H probably benign Het
Tmem247 A G 17: 86,918,429 E99G probably damaging Het
Tuba3b A G 6: 145,619,724 D306G possibly damaging Het
Vps13c T A 9: 67,951,642 D2791E possibly damaging Het
Ypel4 A G 2: 84,737,527 Y98C probably damaging Het
Other mutations in Pcyt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Pcyt2 APN 11 120614325 unclassified probably benign
IGL02882:Pcyt2 APN 11 120611407 missense possibly damaging 0.95
IGL03395:Pcyt2 APN 11 120613050 splice site probably null
R0008:Pcyt2 UTSW 11 120615869 missense possibly damaging 0.95
R0008:Pcyt2 UTSW 11 120615869 missense possibly damaging 0.95
R0739:Pcyt2 UTSW 11 120612044 missense probably damaging 0.99
R1556:Pcyt2 UTSW 11 120612085 critical splice acceptor site probably null
R1703:Pcyt2 UTSW 11 120613068 missense probably benign 0.31
R1715:Pcyt2 UTSW 11 120615851 splice site probably null
R1861:Pcyt2 UTSW 11 120611142 missense probably benign 0.03
R1888:Pcyt2 UTSW 11 120617851 start codon destroyed probably null 1.00
R1888:Pcyt2 UTSW 11 120617851 start codon destroyed probably null 1.00
R4695:Pcyt2 UTSW 11 120611174 missense probably benign 0.03
R4812:Pcyt2 UTSW 11 120614425 unclassified probably benign
R4909:Pcyt2 UTSW 11 120615420 missense probably benign 0.10
R5893:Pcyt2 UTSW 11 120617797 splice site probably null
R6788:Pcyt2 UTSW 11 120614374 missense probably damaging 1.00
R7439:Pcyt2 UTSW 11 120611383 missense possibly damaging 0.94
R8050:Pcyt2 UTSW 11 120610939 missense probably benign
R8283:Pcyt2 UTSW 11 120610722 missense probably benign 0.00
R8378:Pcyt2 UTSW 11 120613408 missense probably benign 0.00
Z1176:Pcyt2 UTSW 11 120614373 missense probably damaging 1.00
Posted On2016-08-02