Incidental Mutation 'R1861:Pcyt2'
ID 203946
Institutional Source Beutler Lab
Gene Symbol Pcyt2
Ensembl Gene ENSMUSG00000025137
Gene Name phosphate cytidylyltransferase 2, ethanolamine
Synonyms 1110033E03Rik
MMRRC Submission 039884-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1861 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 120500913-120508762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120501968 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 332 (P332S)
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 benign
Transcript: ENSMUST00000026129
AA Change: P332S

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: P332S

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 benign
Transcript: ENSMUST00000106188
AA Change: P314S

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: P314S

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: ENSMUST00000145356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124504
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160059
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143502
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 0.0964 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.2%
  • 20x: 92.0%
Validation Efficiency 97% (117/121)
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: 113 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579C12Rik C A 9: 89,034,884 (GRCm39) noncoding transcript Het
Abra C A 15: 41,732,430 (GRCm39) R212L probably damaging Het
Actr1a T C 19: 46,372,714 (GRCm39) E87G probably damaging Het
Adam26a A G 8: 44,022,578 (GRCm39) V304A possibly damaging Het
Alg2 T A 4: 47,471,670 (GRCm39) K379N probably benign Het
Alk G T 17: 72,181,933 (GRCm39) probably benign Het
Aopep A G 13: 63,163,597 (GRCm39) Y206C probably damaging Het
Arhgef17 A G 7: 100,531,475 (GRCm39) Y331H probably damaging Het
Art3 A G 5: 92,560,094 (GRCm39) probably benign Het
Asap1 G A 15: 64,007,647 (GRCm39) probably benign Het
Atad2 A T 15: 57,960,114 (GRCm39) probably null Het
Atp8b5 G A 4: 43,372,906 (GRCm39) R1150H probably damaging Het
Bltp2 C T 11: 78,178,755 (GRCm39) probably benign Het
Brdt T C 5: 107,507,324 (GRCm39) S575P probably benign Het
Capn3 T A 2: 120,316,963 (GRCm39) probably benign Het
Casd1 T A 6: 4,640,951 (GRCm39) Y691N probably damaging Het
Ccdc127 T G 13: 74,505,098 (GRCm39) H215Q possibly damaging Het
Cenpe T C 3: 134,974,740 (GRCm39) L2300P probably damaging Het
Clasp1 T C 1: 118,498,661 (GRCm39) F898L possibly damaging Het
Clcn1 C A 6: 42,290,925 (GRCm39) P933Q possibly damaging Het
Cntn3 T A 6: 102,222,032 (GRCm39) N489I probably benign Het
Col16a1 T C 4: 129,955,517 (GRCm39) probably benign Het
Col24a1 G A 3: 145,243,022 (GRCm39) probably null Het
Col8a2 C T 4: 126,205,417 (GRCm39) probably benign Het
Cpd T C 11: 76,675,208 (GRCm39) probably benign Het
Csmd3 A T 15: 47,522,588 (GRCm39) C2694S probably damaging Het
Cyp2c40 T C 19: 39,775,319 (GRCm39) Y311C probably benign Het
Dennd5b T A 6: 148,969,760 (GRCm39) N231I probably damaging Het
Dgkh T A 14: 78,816,232 (GRCm39) H936L probably benign Het
Dmtf1 T C 5: 9,170,347 (GRCm39) probably null Het
Dnai2 T C 11: 114,643,777 (GRCm39) V481A possibly damaging Het
Dnai3 T C 3: 145,788,801 (GRCm39) Y260C probably damaging Het
Dpyd T G 3: 118,710,780 (GRCm39) V396G probably damaging Het
Elmo3 A G 8: 106,035,213 (GRCm39) D448G probably damaging Het
Emsy A T 7: 98,290,822 (GRCm39) V100E probably damaging Het
Erbb2 T C 11: 98,303,563 (GRCm39) probably null Het
Faah T C 4: 115,865,432 (GRCm39) K85R probably benign Het
Fam149a A T 8: 45,792,399 (GRCm39) Y686* probably null Het
Fat4 T C 3: 39,064,633 (GRCm39) V4863A probably benign Het
Fbxl8 A G 8: 105,995,561 (GRCm39) T358A probably damaging Het
Fcgbpl1 A G 7: 27,854,157 (GRCm39) Y1707C probably damaging Het
Fgfr3 A G 5: 33,887,090 (GRCm39) T165A probably damaging Het
Fnbp1l A T 3: 122,354,581 (GRCm39) H180Q probably damaging Het
Gm8180 T A 14: 44,021,196 (GRCm39) H4L probably benign Het
Gon4l T C 3: 88,802,794 (GRCm39) V1135A probably damaging Het
Gstcd G T 3: 132,688,868 (GRCm39) N627K probably damaging Het
Gtf2a1l G A 17: 89,022,382 (GRCm39) V458I probably damaging Het
Gtf3c3 T C 1: 54,477,997 (GRCm39) E26G possibly damaging Het
Hrct1 A T 4: 43,727,404 (GRCm39) T15S probably benign Het
Ift122 C A 6: 115,868,889 (GRCm39) R459S probably damaging Het
Irf1 T A 11: 53,665,183 (GRCm39) C187S possibly damaging Het
Kcnh7 A G 2: 62,607,736 (GRCm39) V615A probably damaging Het
Kif1c T C 11: 70,594,168 (GRCm39) S61P probably damaging Het
Mamdc2 T C 19: 23,336,517 (GRCm39) T331A probably damaging Het
Mark2 T C 19: 7,268,128 (GRCm39) D25G possibly damaging Het
Me2 T C 18: 73,918,785 (GRCm39) D432G probably benign Het
Mfap3 T C 11: 57,419,032 (GRCm39) V64A probably benign Het
Nadk2 T A 15: 9,108,399 (GRCm39) M416K probably benign Het
Ndufs1 C T 1: 63,186,576 (GRCm39) G631D probably benign Het
Nomo1 G A 7: 45,727,525 (GRCm39) V1055I probably benign Het
Nuggc T A 14: 65,879,450 (GRCm39) probably benign Het
Nwd2 T C 5: 63,962,197 (GRCm39) S594P probably damaging Het
Or13c3 T A 4: 52,856,373 (GRCm39) I47L probably benign Het
Or4a27 T G 2: 88,559,674 (GRCm39) I90L probably damaging Het
Or4b1b C A 2: 90,112,502 (GRCm39) C139F probably damaging Het
Or5b113 T A 19: 13,342,705 (GRCm39) S238T possibly damaging Het
Or6p1 T C 1: 174,258,657 (GRCm39) I221T probably damaging Het
Or8c10 C T 9: 38,278,902 (GRCm39) S10L probably benign Het
Pakap A G 4: 57,709,468 (GRCm39) I138V probably damaging Het
Phaf1 A G 8: 105,966,703 (GRCm39) E150G probably null Het
Phf14 A T 6: 11,987,610 (GRCm39) M630L probably benign Het
Piezo1 T C 8: 123,222,489 (GRCm39) N919S possibly damaging Het
Pif1 A T 9: 65,496,735 (GRCm39) I283F probably damaging Het
Pknox2 G A 9: 36,834,957 (GRCm39) H171Y probably damaging Het
Pramel17 A T 4: 101,694,135 (GRCm39) D249E probably benign Het
Prkg2 T A 5: 99,095,275 (GRCm39) D632V probably damaging Het
Prr29 G A 11: 106,266,264 (GRCm39) A6T probably damaging Het
Rims1 T A 1: 22,635,639 (GRCm39) Y114F probably damaging Het
Ryr1 A T 7: 28,708,977 (GRCm39) D4796E unknown Het
Scnn1b G A 7: 121,513,484 (GRCm39) C399Y probably damaging Het
Scp2 T C 4: 107,948,518 (GRCm39) Y153C probably damaging Het
Sema3d A G 5: 12,547,570 (GRCm39) K164R probably benign Het
Siglecf A G 7: 43,001,648 (GRCm39) T153A probably benign Het
Siglecf A G 7: 43,004,967 (GRCm39) N399S probably benign Het
Skint2 T C 4: 112,504,315 (GRCm39) probably benign Het
Slc22a8 G A 19: 8,583,503 (GRCm39) R236H probably damaging Het
Slc25a40 T A 5: 8,492,431 (GRCm39) probably null Het
Slc26a5 T C 5: 22,021,956 (GRCm39) D490G possibly damaging Het
Slc26a7 G T 4: 14,522,873 (GRCm39) D482E probably benign Het
Smarca2 A T 19: 26,601,284 (GRCm39) M77L probably benign Het
Sos2 A G 12: 69,664,137 (GRCm39) L449P probably damaging Het
Spaca1 A G 4: 34,044,206 (GRCm39) V96A probably damaging Het
Spata31d1b T A 13: 59,865,150 (GRCm39) I766N possibly damaging Het
Specc1l T C 10: 75,145,693 (GRCm39) Y1113H probably damaging Het
Speg A G 1: 75,365,649 (GRCm39) R677G probably damaging Het
Taf5l A T 8: 124,724,729 (GRCm39) D363E probably damaging Het
Tex56 A T 13: 35,116,490 (GRCm39) I80F possibly damaging Het
Tmem208 A G 8: 106,061,438 (GRCm39) K155E possibly damaging Het
Tppp2 A C 14: 52,158,062 (GRCm39) N169T probably benign Het
Trrap T A 5: 144,752,727 (GRCm39) probably null Het
Ttll6 T A 11: 96,029,700 (GRCm39) Y204* probably null Het
Ttn A T 2: 76,602,992 (GRCm39) I18410K probably benign Het
V1rd19 T A 7: 23,703,149 (GRCm39) V205D probably damaging Het
Vdac3 A T 8: 23,070,515 (GRCm39) I132K possibly damaging Het
Vmn2r95 T G 17: 18,672,530 (GRCm39) C756G probably damaging Het
Zc3h15 A G 2: 83,494,334 (GRCm39) T421A unknown Het
Zc3hc1 T C 6: 30,374,837 (GRCm39) T235A probably benign Het
Zcchc14 A G 8: 122,335,990 (GRCm39) probably benign Het
Zfp318 T A 17: 46,722,366 (GRCm39) N1456K possibly damaging Het
Zfp606 A G 7: 12,214,858 (GRCm39) probably benign Het
Zfp811 T A 17: 33,016,399 (GRCm39) H546L probably damaging Het
Zfp94 A T 7: 24,008,541 (GRCm39) Y33N probably damaging Het
Zfyve9 G T 4: 108,539,492 (GRCm39) probably benign 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
R0739:Pcyt2 UTSW 11 120,502,870 (GRCm39) missense probably damaging 0.99
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
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'- AGATGCCTCTTCTCTTGGGC -3'
(R):5'- GGCTTCGCTCAAAGTTCTCCTG -3'

Sequencing Primer
(F):5'- GCTCCTGGAGGCCTCAATG -3'
(R):5'- GTTCTCCTGAGCAGAACATGATGC -3'
Posted On 2014-06-23