Incidental Mutation 'IGL01832:Ctps2'
ID 154828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctps2
Ensembl Gene ENSMUSG00000031360
Gene Name cytidine 5'-triphosphate synthase 2
Synonyms A830031M15Rik, CTPsH
Accession Numbers
Essential gene? Not available question?
Stock # IGL01832
Quality Score
Status
Chromosome X
Chromosomal Location 161684234-161815504 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 161719699 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033727] [ENSMUST00000101095] [ENSMUST00000112301] [ENSMUST00000112302] [ENSMUST00000112303]
AlphaFold P70303
Predicted Effect probably benign
Transcript: ENSMUST00000033727
SMART Domains Protein: ENSMUSP00000033727
Gene: ENSMUSG00000031360

DomainStartEndE-ValueType
Pfam:CTP_synth_N 1 281 2.2e-124 PFAM
Pfam:GATase 309 546 8.2e-54 PFAM
Pfam:Peptidase_C26 375 528 8.4e-10 PFAM
low complexity region 563 574 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000101095
SMART Domains Protein: ENSMUSP00000098656
Gene: ENSMUSG00000031360

DomainStartEndE-ValueType
Pfam:CTP_synth_N 50 330 1.6e-124 PFAM
Pfam:GATase 358 516 1e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112301
SMART Domains Protein: ENSMUSP00000107920
Gene: ENSMUSG00000031360

DomainStartEndE-ValueType
Pfam:CTP_synth_N 1 281 2.2e-124 PFAM
Pfam:GATase 309 546 8.2e-54 PFAM
Pfam:Peptidase_C26 375 528 8.4e-10 PFAM
low complexity region 563 574 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112302
SMART Domains Protein: ENSMUSP00000107921
Gene: ENSMUSG00000031360

DomainStartEndE-ValueType
Pfam:CTP_synth_N 1 281 1.7e-124 PFAM
Pfam:GATase 309 466 1.1e-28 PFAM
Pfam:GATase 459 495 2.5e-6 PFAM
low complexity region 512 523 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112303
SMART Domains Protein: ENSMUSP00000107922
Gene: ENSMUSG00000031360

DomainStartEndE-ValueType
Pfam:CTP_synth_N 2 276 9e-133 PFAM
Pfam:GATase 309 546 2.3e-57 PFAM
Pfam:Peptidase_C26 379 528 1.1e-8 PFAM
low complexity region 563 574 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126956
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135094
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148199
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene catalyzes the formation of CTP from UTP with the concomitant deamination of glutamine to glutamate. This protein is the rate-limiting enzyme in the synthesis of cytosine nucleotides, which play an important role in various metabolic processes and provide the precursors necessary for the synthesis of RNA and DNA. Cancer cells that exhibit increased cell proliferation also exhibit an increased activity of this encoded protein. Thus, this protein is an attractive target for selective chemotherapy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 G A 8: 77,985,758 (GRCm39) T681I probably benign Het
Atg4b T C 1: 93,713,626 (GRCm39) probably benign Het
Atp10b T A 11: 43,125,262 (GRCm39) M1076K probably damaging Het
Atp23 A T 10: 126,730,214 (GRCm39) N111K probably damaging Het
Atxn2 C A 5: 121,944,331 (GRCm39) Y72* probably null Het
C1qtnf12 A G 4: 156,050,323 (GRCm39) D220G probably damaging Het
C2cd3 A T 7: 100,076,421 (GRCm39) T1171S possibly damaging Het
Ccdc15 G A 9: 37,222,640 (GRCm39) R585W probably damaging Het
Cep152 A C 2: 125,460,414 (GRCm39) Y179* probably null Het
Cpa2 T C 6: 30,551,998 (GRCm39) S242P probably benign Het
Cttnbp2nl A G 3: 104,918,544 (GRCm39) S99P probably damaging Het
Ddx20 A G 3: 105,586,327 (GRCm39) S673P probably damaging Het
Erbb4 T C 1: 68,293,725 (GRCm39) K722R possibly damaging Het
Ercc8 A G 13: 108,305,993 (GRCm39) T123A probably damaging Het
Ermard T C 17: 15,280,111 (GRCm39) V87A probably damaging Het
Fkbp8 A G 8: 70,984,195 (GRCm39) H182R probably benign Het
Gab2 T C 7: 96,953,445 (GRCm39) L606P probably damaging Het
Gls C T 1: 52,207,568 (GRCm39) probably null Het
Hook3 A T 8: 26,562,393 (GRCm39) M224K possibly damaging Het
Itga5 T A 15: 103,264,376 (GRCm39) K298* probably null Het
Itprid2 G A 2: 79,481,762 (GRCm39) V481M possibly damaging Het
Lrrc74a C A 12: 86,808,488 (GRCm39) T422K probably benign Het
Myh9 A C 15: 77,675,953 (GRCm39) D244E probably benign Het
Ndrg4 A G 8: 96,439,947 (GRCm39) E349G probably damaging Het
Or9m2 T A 2: 87,820,513 (GRCm39) D19E probably benign Het
Otop2 T C 11: 115,217,769 (GRCm39) S202P probably benign Het
Plppr2 C A 9: 21,854,742 (GRCm39) R138S possibly damaging Het
Prkaca A C 8: 84,717,366 (GRCm39) K206N probably damaging Het
Ptpro C T 6: 137,370,666 (GRCm39) T589I possibly damaging Het
Ptprq A G 10: 107,401,700 (GRCm39) probably null Het
Slc16a5 T C 11: 115,355,827 (GRCm39) V96A probably benign Het
Tcerg1 A G 18: 42,707,620 (GRCm39) K1047E probably damaging Het
Tinag T C 9: 76,939,038 (GRCm39) K147E probably benign Het
Urgcp T C 11: 5,667,325 (GRCm39) T338A probably damaging Het
Wdr74 C T 19: 8,717,302 (GRCm39) R299C probably damaging Het
Zzef1 C T 11: 72,765,892 (GRCm39) S1473L probably damaging Het
Other mutations in Ctps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02484:Ctps2 APN X 161,693,005 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04