Incidental Mutation 'R7439:Pcyt2'
ID576842
Institutional Source Beutler Lab
Gene Symbol Pcyt2
Ensembl Gene ENSMUSG00000025137
Gene Namephosphate cytidylyltransferase 2, ethanolamine
Synonyms1110033E03Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7439 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location120610087-120617936 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120611383 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Asparagine at position 308 (Y308N)
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: Y308N

PolyPhen 2 Score 0.940 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137
AA Change: Y308N

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 possibly damaging
Transcript: ENSMUST00000106188
AA Change: Y290N

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000101794
Gene: ENSMUSG00000025137
AA Change: Y290N

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: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530003J23Rik G A 10: 117,238,697 probably benign Het
Acacb T C 5: 114,195,642 V542A possibly damaging Het
Adprhl1 C T 8: 13,223,069 V1230I probably benign Het
Agpat1 T A 17: 34,610,909 Y77N probably damaging Het
Apc T A 18: 34,312,073 I674K probably damaging Het
Arpc5 T C 1: 152,771,436 S97P probably damaging Het
Arrdc5 A G 17: 56,297,931 F119L probably benign Het
Asap1 A G 15: 64,130,256 V402A probably damaging Het
Aspg T C 12: 112,124,821 V479A possibly damaging Het
B3galnt2 G A 13: 13,994,485 V368M probably benign Het
Bcl3 T C 7: 19,822,611 T23A probably benign Het
Bpifb5 A G 2: 154,228,933 K215E possibly damaging Het
Coa4 T A 7: 100,539,271 C64S probably damaging Het
Dcun1d4 T C 5: 73,491,536 probably null Het
Dnaaf5 T G 5: 139,166,113 C506W probably damaging Het
Dock3 A G 9: 107,023,732 Y345H probably damaging Het
Dscaml1 A G 9: 45,710,326 N1024S possibly damaging Het
Dsp T C 13: 38,176,502 probably null Het
Dsp A G 13: 38,195,449 T2057A probably benign Het
Dync1h1 T G 12: 110,636,453 L2176R probably damaging Het
Eif5b A C 1: 38,051,637 D1192A probably benign Het
Epn2 A T 11: 61,546,848 probably benign Het
Exoc1 T A 5: 76,545,348 N360K probably benign Het
Fam135b A T 15: 71,463,680 V555E probably damaging Het
Fam208a T A 14: 27,471,645 V934E probably damaging Het
Fmn1 A T 2: 113,441,611 Q108L unknown Het
Gcc2 A G 10: 58,256,901 T48A probably benign Het
Gm438 T C 4: 144,777,762 D273G probably damaging Het
Gm6619 T G 6: 131,490,391 I73S possibly damaging Het
Gm8267 T A 14: 44,722,940 D116V probably damaging Het
Hapln3 T A 7: 79,117,269 T341S probably benign Het
Lamb3 C A 1: 193,332,166 D544E possibly damaging Het
Lhx5 T A 5: 120,440,284 S390T probably benign Het
Lrrc63 A G 14: 75,126,257 S145P possibly damaging Het
Lrriq1 T C 10: 103,214,519 M791V probably benign Het
Lyg2 A G 1: 37,911,137 Y37H possibly damaging Het
Nrbp1 T A 5: 31,244,956 M172K probably damaging Het
Olfr1044 T A 2: 86,171,010 D269V probably damaging Het
Olfr1261 A G 2: 89,993,839 I149V probably benign Het
Olfr168 T G 16: 19,530,900 S7R probably benign Het
Peg10 C CTCA 6: 4,756,453 probably benign Het
Phf21b A G 15: 84,804,903 S141P probably damaging Het
Pigh G A 12: 79,089,550 P24S probably benign Het
Plekhg3 A G 12: 76,576,485 D834G probably damaging Het
Plekhg5 T A 4: 152,113,935 V860D probably benign Het
Pon1 A G 6: 5,177,399 I170T probably damaging Het
Ptpn9 T A 9: 57,027,433 Y160* probably null Het
Ptprj T C 2: 90,449,819 K1045R possibly damaging Het
Rilpl2 T A 5: 124,463,788 H196L probably benign Het
Rnf112 C T 11: 61,451,028 V317I possibly damaging Het
Rundc3a G T 11: 102,400,046 probably null Het
Sgsm1 T C 5: 113,274,321 Y489C probably damaging Het
Sis G A 3: 72,909,041 H1531Y possibly damaging Het
Slc26a9 A G 1: 131,762,818 Y520C probably damaging Het
Smc5 A G 19: 23,242,700 V467A probably damaging Het
Spata20 G A 11: 94,484,041 A245V probably benign Het
Steap3 A C 1: 120,241,518 F350V probably benign Het
Sucnr1 A G 3: 60,086,696 Q215R probably benign Het
Supv3l1 G A 10: 62,430,615 A594V probably damaging Het
Swt1 A T 1: 151,411,064 F226I probably benign Het
Taar7f A G 10: 24,049,987 T160A possibly damaging Het
Tada2a A T 11: 84,126,986 probably null Het
Taok3 C A 5: 117,250,909 Q460K probably damaging Het
Twf2 A G 9: 106,214,398 E268G probably damaging Het
Upf2 A T 2: 6,018,932 I698F unknown Het
Vmn2r35 T A 7: 7,817,014 N86Y probably damaging Het
Vmn2r84 T C 10: 130,392,113 T85A possibly damaging Het
Vps13d A G 4: 145,105,856 S2833P Het
Xrn1 T C 9: 96,051,629 S1584P probably benign Het
Zfp354b T C 11: 50,922,397 Y567C probably damaging Het
Zfp52 A T 17: 21,560,870 R327* probably null Het
Other mutations in Pcyt2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00914:Pcyt2 APN 11 120614325 unclassified probably benign
IGL02882:Pcyt2 APN 11 120611407 missense possibly damaging 0.95
IGL03336:Pcyt2 APN 11 120615932 missense probably damaging 1.00
IGL03395:Pcyt2 APN 11 120613050 splice site 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 splice site 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 splice site probably null
R6788:Pcyt2 UTSW 11 120614374 missense probably damaging 1.00
R8050:Pcyt2 UTSW 11 120610939 missense probably benign
R8283:Pcyt2 UTSW 11 120610722 missense probably benign 0.00
R8378:Pcyt2 UTSW 11 120613408 missense probably benign 0.00
Z1176:Pcyt2 UTSW 11 120614373 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GAGCAAGGTCAGGAGACTTC -3'
(R):5'- ACTGGGTGCAGTTTCTTTCC -3'

Sequencing Primer
(F):5'- GAGACTTCCTCAGAGTTGCTATGC -3'
(R):5'- CTGAAGGAGTCTGAGGGTCC -3'
Posted On2019-10-07