Incidental Mutation 'R9118:Pcyt2'
ID 692652
Institutional Source Beutler Lab
Gene Symbol Pcyt2
Ensembl Gene ENSMUSG00000025137
Gene Name phosphate cytidylyltransferase 2, ethanolamine
Synonyms 1110033E03Rik
MMRRC Submission 068921-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9118 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 120500913-120508762 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 120503899 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 183 (P183L)
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
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: P183L

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 probably benign
Transcript: ENSMUST00000106188
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 97% (31/32)
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
Acaa1b A T 9: 118,985,957 (GRCm39) S36T probably benign Het
Aifm2 C T 10: 61,561,681 (GRCm39) T9I probably benign Het
Ano5 T A 7: 51,220,122 (GRCm39) F421I probably damaging Het
Cacna1a G A 8: 85,262,715 (GRCm39) V372M probably damaging Het
Col6a5 A T 9: 105,755,853 (GRCm39) probably benign Het
Colgalt2 A G 1: 152,378,906 (GRCm39) probably benign Het
Crybg1 T C 10: 43,879,925 (GRCm39) D421G possibly damaging Het
Dgat1 A T 15: 76,386,718 (GRCm39) W440R probably damaging Het
Dnah5 TGTCCGACTACAACATCGAGACGGCCAAGCGCGTC TGTC 15: 28,401,994 (GRCm39) probably null Het
Dnai7 A G 6: 145,120,900 (GRCm39) Y691H probably damaging Het
Dnai7 A G 6: 145,120,971 (GRCm39) L667P probably damaging Het
Eif4h C A 5: 134,656,481 (GRCm39) V70L probably benign Het
Gabrd C A 4: 155,470,475 (GRCm39) V326L possibly damaging Het
Krt1c C T 15: 101,722,976 (GRCm39) E341K probably damaging Het
Lrp4 C T 2: 91,308,927 (GRCm39) A538V possibly damaging Het
Mfap3l G A 8: 61,109,716 (GRCm39) V31M probably damaging Het
Mroh2b T C 15: 4,991,573 (GRCm39) I1557T possibly damaging Het
Or2y16 A T 11: 49,335,409 (GRCm39) I244F probably benign Het
Or5an11 T C 19: 12,246,263 (GRCm39) V223A probably benign Het
Rapsn A G 2: 90,875,378 (GRCm39) H387R probably damaging Het
Scaf11 G A 15: 96,319,886 (GRCm39) A259V probably benign Het
Septin9 A G 11: 117,157,398 (GRCm39) D11G probably benign Het
Sfi1 ACA ACATCTTCCCAAAGCCAGTCA 11: 3,103,382 (GRCm39) probably benign Het
Slc7a2 T A 8: 41,351,994 (GRCm39) I19N possibly damaging Het
Synpr T C 14: 13,608,673 (GRCm38) V171A probably damaging Het
Tmed7 T C 18: 46,726,338 (GRCm39) N139S probably benign Het
Tnks1bp1 G T 2: 84,893,720 (GRCm39) G1216W probably damaging Het
Ush2a T A 1: 188,386,839 (GRCm39) V2338E probably damaging Het
Vmn1r152 A T 7: 22,222,992 (GRCm39) I201F Het
Vmn2r106 C A 17: 20,505,667 (GRCm39) W9L probably benign Het
Vmn2r9 A G 5: 108,990,937 (GRCm39) V808A probably damaging Het
Zfp646 A G 7: 127,480,810 (GRCm39) T996A Het
Zng1 T C 19: 24,920,048 (GRCm39) R190G 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
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
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
Z1176:Pcyt2 UTSW 11 120,505,199 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CGGTGGCCACAGAAGATAATGC -3'
(R):5'- AAAGGTTGGCCCAAAGCTTC -3'

Sequencing Primer
(F):5'- TGCAGTCAACACCAGCTCTG -3'
(R):5'- GTTGGCCCAAAGCTTCAGTGTC -3'
Posted On 2021-12-30