Incidental Mutation 'R1715:Pcyt2'
ID 190954
Institutional Source Beutler Lab
Gene Symbol Pcyt2
Ensembl Gene ENSMUSG00000025137
Gene Name phosphate cytidylyltransferase 2, ethanolamine
Synonyms 1110033E03Rik
MMRRC Submission 039748-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1715 (G1)
Quality Score 157
Status Not validated
Chromosome 11
Chromosomal Location 120500913-120508762 bp(-) (GRCm39)
Type of Mutation splice site (2569 bp from exon)
DNA Base Change (assembly) T to A at 120506677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120405 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026129] [ENSMUST00000080202] [ENSMUST00000106188] [ENSMUST00000146809]
AlphaFold Q922E4
Predicted Effect probably damaging
Transcript: ENSMUST00000026129
AA Change: D59V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: D59V

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 null
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: D59V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: D59V

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: ENSMUST00000126723
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126148
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145356
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142049
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143502
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127882
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134671
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133625
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153532
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154714
Predicted Effect probably null
Transcript: ENSMUST00000146809
SMART Domains Protein: ENSMUSP00000120405
Gene: ENSMUSG00000025138

DomainStartEndE-ValueType
Pfam:SIR2 1 89 1.6e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160059
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
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: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a G A 11: 109,982,406 (GRCm39) T12M probably damaging Het
Alms1 T A 6: 85,606,034 (GRCm39) Y2561* probably null Het
Atp10a G A 7: 58,436,253 (GRCm39) V348I probably damaging Het
Best2 T C 8: 85,737,852 (GRCm39) Y181C probably benign Het
Btaf1 T A 19: 36,946,521 (GRCm39) D442E probably damaging Het
Carmil3 T G 14: 55,741,989 (GRCm39) V1153G probably benign Het
Cc2d2a A G 5: 43,876,003 (GRCm39) I993M probably damaging Het
Ccng1 G A 11: 40,642,941 (GRCm39) P169S probably benign Het
Cip2a C T 16: 48,826,082 (GRCm39) T383I probably benign Het
Cmtr2 T C 8: 110,949,430 (GRCm39) L580P probably damaging Het
Col22a1 T C 15: 71,878,830 (GRCm39) E109G possibly damaging Het
Cplane1 T A 15: 8,256,384 (GRCm39) probably null Het
Crispld2 G T 8: 120,750,388 (GRCm39) W264L possibly damaging Het
Cyp2c38 T C 19: 39,393,239 (GRCm39) H276R probably benign Het
Dag1 A T 9: 108,085,914 (GRCm39) V409E possibly damaging Het
Efcab15 T C 11: 103,090,650 (GRCm39) probably null Het
Emc8 T C 8: 121,385,294 (GRCm39) N146S probably benign Het
Glt8d1 T C 14: 30,733,478 (GRCm39) V321A possibly damaging Het
Gm5174 C T 10: 86,492,776 (GRCm39) noncoding transcript Het
Hdac10 G T 15: 89,010,912 (GRCm39) probably null Het
Hectd4 A G 5: 121,482,881 (GRCm39) D3144G possibly damaging Het
Ifna11 C T 4: 88,738,473 (GRCm39) S93L probably damaging Het
Il16 T C 7: 83,297,936 (GRCm39) N431S probably benign Het
Irf8 A T 8: 121,481,127 (GRCm39) E237V probably damaging Het
Lrp1b A G 2: 41,075,993 (GRCm39) Y1769H probably damaging Het
Lrrc9 A G 12: 72,524,073 (GRCm39) N761D probably damaging Het
Mbtps1 T C 8: 120,269,469 (GRCm39) Y207C probably benign Het
Myo9a A G 9: 59,739,583 (GRCm39) E765G probably damaging Het
Nlrp3 A G 11: 59,434,177 (GRCm39) D80G probably damaging Het
Or12k8 G A 2: 36,975,188 (GRCm39) P191S probably damaging Het
Or2ag15 G C 7: 106,340,755 (GRCm39) P129A probably damaging Het
Or7g18 A T 9: 18,787,090 (GRCm39) I156F probably benign Het
Plxnd1 T C 6: 115,945,642 (GRCm39) T944A probably benign Het
Prss3b A G 6: 41,009,870 (GRCm39) probably null Het
Psd4 A T 2: 24,295,344 (GRCm39) I833F probably damaging Het
Psmd7 A G 8: 108,307,817 (GRCm39) I222T probably benign Het
Rap2b A G 3: 61,272,611 (GRCm39) E45G probably damaging Het
Rbm22 T C 18: 60,693,916 (GRCm39) S7P possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Rfx4 A G 10: 84,680,144 (GRCm39) N107S probably damaging Het
Ripk2 T A 4: 16,155,192 (GRCm39) probably null Het
Rpgrip1 T A 14: 52,378,148 (GRCm39) C499S possibly damaging Het
Scarf1 T C 11: 75,414,870 (GRCm39) S515P probably damaging Het
Sgip1 T C 4: 102,772,256 (GRCm39) V215A probably benign Het
Sis T C 3: 72,796,343 (GRCm39) I1813V possibly damaging Het
Slc17a3 A T 13: 24,040,724 (GRCm39) T317S probably benign Het
Slc35e1 T C 8: 73,237,821 (GRCm39) N340S probably benign Het
Smg6 A G 11: 74,820,256 (GRCm39) I176V probably benign Het
Smim17 T C 7: 6,432,325 (GRCm39) L89S probably damaging Het
Synm T C 7: 67,386,051 (GRCm39) N95S probably damaging Het
Tdrd9 A G 12: 112,002,873 (GRCm39) K841E possibly damaging Het
Tep1 G T 14: 51,092,024 (GRCm39) F570L possibly damaging Het
Tgm3 G A 2: 129,868,734 (GRCm39) probably null Het
Tra2b T C 16: 22,071,496 (GRCm39) Y128C possibly damaging Het
Vmn2r17 T C 5: 109,576,110 (GRCm39) V327A probably benign Het
Wdr20rt A T 12: 65,274,088 (GRCm39) D344V probably damaging Het
Zfp940 A G 7: 29,544,363 (GRCm39) C515R 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
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'- TCTGTTTCAAGAACCGGGGTAGGG -3'
(R):5'- GGTTAAGCATCTGCCAGTGAACAGC -3'

Sequencing Primer
(F):5'- AGCTGTCCTGTGTTGCCAC -3'
(R):5'- AGAACCGACTTCTCTGCTGTAAG -3'
Posted On 2014-05-14