Incidental Mutation 'R0739:Pcyt2'
ID 70633
Institutional Source Beutler Lab
Gene Symbol Pcyt2
Ensembl Gene ENSMUSG00000025137
Gene Name phosphate cytidylyltransferase 2, ethanolamine
Synonyms 1110033E03Rik
MMRRC Submission 038920-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0739 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120500913-120508762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120502870 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 257 (L257P)
Ref Sequence ENSEMBL: ENSMUSP00000026129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026128] [ENSMUST00000026129] [ENSMUST00000061309] [ENSMUST00000106188] [ENSMUST00000106194] [ENSMUST00000106195]
AlphaFold Q922E4
Predicted Effect probably benign
Transcript: ENSMUST00000026128
SMART Domains Protein: ENSMUSP00000026128
Gene: ENSMUSG00000025135

DomainStartEndE-ValueType
RING 23 76 4.48e-1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000026129
AA Change: L257P

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: L257P

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 probably damaging
Transcript: ENSMUST00000106188
AA Change: L239P

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: L239P

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 noncoding transcript
Transcript: ENSMUST00000143502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134671
Predicted Effect probably benign
Transcript: ENSMUST00000106195
SMART Domains Protein: ENSMUSP00000101801
Gene: ENSMUSG00000044034

DomainStartEndE-ValueType
Pfam:NPBW 5 118 6.9e-48 PFAM
Meta Mutation Damage Score 0.8876 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.0%
Validation Efficiency 98% (48/49)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,227,961 (GRCm39) E327G probably damaging Het
Adcy6 T C 15: 98,496,260 (GRCm39) D593G probably benign Het
Ankmy1 T C 1: 92,816,370 (GRCm39) D248G probably damaging Het
Atp2a1 T C 7: 126,047,428 (GRCm39) I743V possibly damaging Het
Axdnd1 T C 1: 156,208,456 (GRCm39) N396D possibly damaging Het
Cacna1e C T 1: 154,318,024 (GRCm39) A1391T probably damaging Het
Ccr8 G A 9: 119,923,415 (GRCm39) G177S probably damaging Het
Clmn C T 12: 104,747,276 (GRCm39) G757D possibly damaging Het
Cntn2 T A 1: 132,456,750 (GRCm39) I99F probably damaging Het
D6Ertd527e C G 6: 87,088,650 (GRCm39) A271G unknown Het
Dnah1 A T 14: 30,987,872 (GRCm39) C3515* probably null Het
Eif2d A G 1: 131,082,100 (GRCm39) Y64C probably damaging Het
Elovl4 A G 9: 83,667,162 (GRCm39) F65S probably damaging Het
F5 G C 1: 164,026,486 (GRCm39) R1686P probably damaging Het
Fbn1 T C 2: 125,209,550 (GRCm39) E938G probably benign Het
Foxn1 T C 11: 78,249,825 (GRCm39) T567A probably benign Het
Gabrr1 T C 4: 33,162,781 (GRCm39) M449T probably benign Het
Gdf2 C T 14: 33,663,178 (GRCm39) P24L probably damaging Het
Itgb3bp T C 4: 99,690,433 (GRCm39) I29V probably benign Het
Kcnk7 C T 19: 5,754,830 (GRCm39) probably null Het
Klf11 T C 12: 24,710,247 (GRCm39) S432P probably damaging Het
Neo1 C T 9: 58,829,160 (GRCm39) A580T probably benign Het
Nexmif G T X: 103,128,555 (GRCm39) Q1121K probably benign Het
Or51aa5 T C 7: 103,166,931 (GRCm39) Y220C probably damaging Het
Or51f5 T C 7: 102,423,872 (GRCm39) I47T probably damaging Het
Or5p62 T C 7: 107,771,217 (GRCm39) T245A probably benign Het
Osgepl1 G T 1: 53,362,354 (GRCm39) E399* probably null Het
Parvg T A 15: 84,215,222 (GRCm39) V197E probably damaging Het
Pou3f2 T C 4: 22,486,960 (GRCm39) D391G possibly damaging Het
Psmd2 C T 16: 20,474,079 (GRCm39) R261C probably benign Het
Ptpn13 T C 5: 103,722,998 (GRCm39) F1981L probably benign Het
Rbp3 A T 14: 33,680,604 (GRCm39) I1069F probably benign Het
Rhbdf2 A T 11: 116,490,987 (GRCm39) L655Q probably damaging Het
Sec16a A T 2: 26,331,063 (GRCm39) N317K possibly damaging Het
Serpina3f T C 12: 104,184,612 (GRCm39) V252A probably damaging Het
Slc22a23 C T 13: 34,528,366 (GRCm39) G139S possibly damaging Het
Smyd2 T C 1: 189,621,059 (GRCm39) T220A possibly damaging Het
Snrpb2 T A 2: 142,907,281 (GRCm39) probably benign Het
Spopfm1 A G 3: 94,173,102 (GRCm39) M37V probably benign Het
Sptan1 A T 2: 29,903,530 (GRCm39) I1502F probably damaging Het
Srprb A T 9: 103,074,794 (GRCm39) L116H probably damaging Het
Stradb T A 1: 59,016,174 (GRCm39) probably benign Het
Tm9sf4 C A 2: 153,045,734 (GRCm39) F535L probably damaging Het
Tmprss15 A T 16: 78,821,736 (GRCm39) S440T possibly damaging Het
Tpr C T 1: 150,283,248 (GRCm39) A293V possibly damaging Het
Usp34 C T 11: 23,417,243 (GRCm39) T2964I possibly damaging Het
Usp35 C A 7: 96,960,874 (GRCm39) E851* probably null Het
Zc3h14 T A 12: 98,723,460 (GRCm39) V250D probably damaging Het
Zfp568 T A 7: 29,722,746 (GRCm39) C564S probably damaging Het
Other mutations in Pcyt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Pcyt2 APN 11 120,505,151 (GRCm39) unclassified probably benign
IGL02882:Pcyt2 APN 11 120,502,233 (GRCm39) missense possibly damaging 0.95
IGL03336:Pcyt2 APN 11 120,506,758 (GRCm39) missense probably damaging 1.00
IGL03395:Pcyt2 APN 11 120,503,876 (GRCm39) splice site probably null
R0008:Pcyt2 UTSW 11 120,506,695 (GRCm39) missense possibly damaging 0.95
R0008:Pcyt2 UTSW 11 120,506,695 (GRCm39) missense possibly damaging 0.95
R1556:Pcyt2 UTSW 11 120,502,911 (GRCm39) critical splice acceptor site probably null
R1703:Pcyt2 UTSW 11 120,503,894 (GRCm39) missense probably benign 0.31
R1715:Pcyt2 UTSW 11 120,506,677 (GRCm39) splice site probably null
R1861:Pcyt2 UTSW 11 120,501,968 (GRCm39) missense probably benign 0.03
R1888:Pcyt2 UTSW 11 120,508,677 (GRCm39) start codon destroyed probably null 1.00
R1888:Pcyt2 UTSW 11 120,508,677 (GRCm39) start codon destroyed probably null 1.00
R4695:Pcyt2 UTSW 11 120,502,000 (GRCm39) missense probably benign 0.03
R4812:Pcyt2 UTSW 11 120,505,251 (GRCm39) unclassified probably benign
R4909:Pcyt2 UTSW 11 120,506,246 (GRCm39) missense probably benign 0.10
R5893:Pcyt2 UTSW 11 120,508,623 (GRCm39) splice site probably null
R6788:Pcyt2 UTSW 11 120,505,200 (GRCm39) missense probably damaging 1.00
R7439:Pcyt2 UTSW 11 120,502,209 (GRCm39) missense possibly damaging 0.94
R8050:Pcyt2 UTSW 11 120,501,765 (GRCm39) missense probably benign
R8283:Pcyt2 UTSW 11 120,501,548 (GRCm39) missense probably benign 0.00
R8378:Pcyt2 UTSW 11 120,504,234 (GRCm39) missense probably benign 0.00
R9118:Pcyt2 UTSW 11 120,503,899 (GRCm39) missense
Z1176:Pcyt2 UTSW 11 120,505,199 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCTCAGTCCTTCAGAGGCCAC -3'
(R):5'- CCTTCACCAGGGAGAATGGCAC -3'

Sequencing Primer
(F):5'- CTTCAGAGGCCACCTGTG -3'
(R):5'- tggggatggagcacagg -3'
Posted On 2013-09-30