Incidental Mutation 'IGL02882:Pcyt2'
ID362838
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 #IGL02882
Quality Score
Status
Chromosome11
Chromosomal Location120610087-120617936 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 120611407 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 300 (S300P)
Ref Sequence ENSEMBL: ENSMUSP00000026129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026128] [ENSMUST00000026129] [ENSMUST00000061309] [ENSMUST00000106188] [ENSMUST00000106194] [ENSMUST00000106195]
Predicted Effect probably benign
Transcript: ENSMUST00000026128
SMART Domains Protein: ENSMUSP00000026128
Gene: ENSMUSG00000025135

DomainStartEndE-ValueType
RING 23 76 4.48e-1 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000026129
AA Change: S300P

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: S300P

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: ENSMUST00000061309
SMART Domains Protein: ENSMUSP00000050092
Gene: ENSMUSG00000044034

DomainStartEndE-ValueType
Pfam:NPBW 2 107 1.3e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000106187
Predicted Effect possibly damaging
Transcript: ENSMUST00000106188
AA Change: S282P

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: S282P

DomainStartEndE-ValueType
Pfam:CTP_transf_2 26 152 9.8e-25 PFAM
Pfam:CTP_transf_2 217 332 2e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106194
SMART Domains Protein: ENSMUSP00000101800
Gene: ENSMUSG00000044034

DomainStartEndE-ValueType
Pfam:NPBW 2 115 5.2e-38 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106195
SMART Domains Protein: ENSMUSP00000101801
Gene: ENSMUSG00000044034

DomainStartEndE-ValueType
Pfam:NPBW 5 118 6.9e-48 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: ENSMUST00000134671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160059
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg4 A T 9: 44,277,489 L469* probably null Het
Calr3 T A 8: 72,434,821 Y46F probably damaging Het
Clcn4 A G 7: 7,290,465 C491R probably damaging Het
Col6a5 G T 9: 105,934,321 D666E unknown Het
D130052B06Rik G A 11: 33,623,780 V126M probably damaging Het
Ddx27 A G 2: 167,027,913 I389M possibly damaging Het
Dgka T C 10: 128,733,384 I160V possibly damaging Het
E430018J23Rik A G 7: 127,392,252 Y188H probably damaging Het
Enpp6 T C 8: 47,030,532 S120P probably damaging Het
Ezh1 A G 11: 101,203,289 I459T probably benign Het
Fam91a1 A G 15: 58,453,061 probably benign Het
Foxn2 T C 17: 88,462,947 L74P probably damaging Het
Fscn2 T C 11: 120,362,499 V264A probably benign Het
Gmeb2 G A 2: 181,265,883 T54I probably damaging Het
Hmcn2 A T 2: 31,413,367 K3007* probably null Het
Ice1 A T 13: 70,624,474 probably benign Het
Lgi1 A G 19: 38,284,005 D84G probably benign Het
Mier2 T C 10: 79,547,721 I196V probably damaging Het
Nipal2 T C 15: 34,600,077 Y198C probably damaging Het
Npas2 A C 1: 39,312,996 S176R probably benign Het
Olfr914 A T 9: 38,606,938 I158F probably benign Het
Pam A C 1: 97,840,367 C713G probably damaging Het
Pcdh17 C A 14: 84,446,661 D189E probably damaging Het
Pcdhb8 T A 18: 37,356,223 I318N possibly damaging Het
Pkdrej A G 15: 85,817,296 S1480P probably damaging Het
Plekhd1 G A 12: 80,719,007 probably null Het
Plxna2 A T 1: 194,762,570 S757C probably damaging Het
Prkdc A T 16: 15,651,519 K163* probably null Het
Serpina3f A T 12: 104,217,004 T42S probably damaging Het
Sesn2 T C 4: 132,493,793 N456D probably benign Het
Tas2r105 A T 6: 131,687,180 L95Q possibly damaging Het
Tln1 A G 4: 43,539,522 V1600A probably benign Het
Zfp808 A G 13: 62,173,180 K741R probably benign Het
Other mutations in Pcyt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Pcyt2 APN 11 120614325 unclassified probably benign
IGL03336:Pcyt2 APN 11 120615932 missense probably damaging 1.00
IGL03395:Pcyt2 APN 11 120613050 unclassified 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 unclassified 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 unclassified 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
Z1176:Pcyt2 UTSW 11 120614373 missense probably damaging 1.00
Posted On2015-12-18