Incidental Mutation 'IGL01832:Ctps2'
ID154828
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ctps2
Ensembl Gene ENSMUSG00000031360
Gene Namecytidine 5'-triphosphate synthase 2
SynonymsA830031M15Rik, CTPsH
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01832
Quality Score
Status
ChromosomeX
Chromosomal Location162901238-163032508 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) G to T at 162936703 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000107922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033727] [ENSMUST00000101095] [ENSMUST00000112301] [ENSMUST00000112302] [ENSMUST00000112303]
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: 77,259,129 T681I probably benign Het
Atg4b T C 1: 93,785,904 probably benign Het
Atp10b T A 11: 43,234,435 M1076K probably damaging Het
Atp23 A T 10: 126,894,345 N111K probably damaging Het
Atxn2 C A 5: 121,806,268 Y72* probably null Het
C1qtnf12 A G 4: 155,965,866 D220G probably damaging Het
C2cd3 A T 7: 100,427,214 T1171S possibly damaging Het
Ccdc15 G A 9: 37,311,344 R585W probably damaging Het
Cep152 A C 2: 125,618,494 Y179* probably null Het
Cpa2 T C 6: 30,551,999 S242P probably benign Het
Cttnbp2nl A G 3: 105,011,228 S99P probably damaging Het
Ddx20 A G 3: 105,679,011 S673P probably damaging Het
Erbb4 T C 1: 68,254,566 K722R possibly damaging Het
Ercc8 A G 13: 108,169,459 T123A probably damaging Het
Ermard T C 17: 15,059,849 V87A probably damaging Het
Fkbp8 A G 8: 70,531,545 H182R probably benign Het
Gab2 T C 7: 97,304,238 L606P probably damaging Het
Gls C T 1: 52,168,409 probably null Het
Hook3 A T 8: 26,072,365 M224K possibly damaging Het
Itga5 T A 15: 103,355,949 K298* probably null Het
Lrrc74a C A 12: 86,761,714 T422K probably benign Het
Myh9 A C 15: 77,791,753 D244E probably benign Het
Ndrg4 A G 8: 95,713,319 E349G probably damaging Het
Olfr1158 T A 2: 87,990,169 D19E probably benign Het
Otop2 T C 11: 115,326,943 S202P probably benign Het
Plppr2 C A 9: 21,943,446 R138S possibly damaging Het
Prkaca A C 8: 83,990,737 K206N probably damaging Het
Ptpro C T 6: 137,393,668 T589I possibly damaging Het
Ptprq A G 10: 107,565,839 probably null Het
Slc16a5 T C 11: 115,465,001 V96A probably benign Het
Ssfa2 G A 2: 79,651,418 V481M possibly damaging Het
Tcerg1 A G 18: 42,574,555 K1047E probably damaging Het
Tinag T C 9: 77,031,756 K147E probably benign Het
Urgcp T C 11: 5,717,325 T338A probably damaging Het
Wdr74 C T 19: 8,739,938 R299C probably damaging Het
Zzef1 C T 11: 72,875,066 S1473L probably damaging Het
Other mutations in Ctps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02484:Ctps2 APN X 162910009 missense probably damaging 1.00
Posted On2014-02-04