Incidental Mutation 'IGL02484:Ctps2'
ID 295374
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 # IGL02484
Quality Score
Status
Chromosome X
Chromosomal Location 161684234-161815504 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 161693005 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 56 (G56D)
Ref Sequence ENSEMBL: ENSMUSP00000107922 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033727] [ENSMUST00000101095] [ENSMUST00000112301] [ENSMUST00000112302] [ENSMUST00000112303]
AlphaFold P70303
Predicted Effect probably damaging
Transcript: ENSMUST00000033727
AA Change: G56D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033727
Gene: ENSMUSG00000031360
AA Change: G56D

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 damaging
Transcript: ENSMUST00000101095
AA Change: G105D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000098656
Gene: ENSMUSG00000031360
AA Change: G105D

DomainStartEndE-ValueType
Pfam:CTP_synth_N 50 330 1.6e-124 PFAM
Pfam:GATase 358 516 1e-28 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112301
AA Change: G56D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107920
Gene: ENSMUSG00000031360
AA Change: G56D

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 damaging
Transcript: ENSMUST00000112302
AA Change: G56D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107921
Gene: ENSMUSG00000031360
AA Change: G56D

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 damaging
Transcript: ENSMUST00000112303
AA Change: G56D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107922
Gene: ENSMUSG00000031360
AA Change: G56D

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: ENSMUST00000123089
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148949
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142927
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432E11Rik A C 7: 29,262,777 (GRCm39) noncoding transcript Het
Araf A G X: 20,720,148 (GRCm39) probably benign Het
Arrb2 T A 11: 70,330,300 (GRCm39) V308E probably damaging Het
Asap3 A G 4: 135,956,768 (GRCm39) probably benign Het
Astn2 G A 4: 65,910,516 (GRCm39) probably benign Het
Cactin T A 10: 81,158,808 (GRCm39) I258N probably benign Het
Calhm6 T C 10: 34,002,400 (GRCm39) T228A probably benign Het
Catsperg1 T C 7: 28,910,345 (GRCm39) probably benign Het
Ccna1 C T 3: 54,955,915 (GRCm39) D146N probably benign Het
Chrna3 T C 9: 54,922,821 (GRCm39) Y329C probably damaging Het
Cyp4b1 T C 4: 115,504,754 (GRCm39) D44G probably benign Het
D3Ertd751e A G 3: 41,708,155 (GRCm39) probably null Het
Daxx T C 17: 34,131,216 (GRCm39) V381A probably damaging Het
Dhx37 T A 5: 125,496,401 (GRCm39) I714F possibly damaging Het
Dnah7b T C 1: 46,234,478 (GRCm39) V1470A probably damaging Het
Efl1 T C 7: 82,332,247 (GRCm39) I297T probably damaging Het
Fnd3c2 A T X: 105,289,092 (GRCm39) H442Q probably damaging Het
Glp2r A C 11: 67,630,992 (GRCm39) V126G possibly damaging Het
Gm5699 G T 1: 31,037,843 (GRCm39) noncoding transcript Het
Gpt2 A G 8: 86,242,862 (GRCm39) D298G probably damaging Het
Gse1 G T 8: 121,302,001 (GRCm39) probably benign Het
Hand1 T C 11: 57,722,420 (GRCm39) T65A probably benign Het
Ints8 G A 4: 11,208,834 (GRCm39) Q955* probably null Het
Lrguk C T 6: 34,069,726 (GRCm39) P534S probably damaging Het
Lrp6 A G 6: 134,518,886 (GRCm39) F60L probably benign Het
Mamld1 T C X: 70,162,258 (GRCm39) I423T possibly damaging Het
Mrpl22 G A 11: 58,063,888 (GRCm39) S36N possibly damaging Het
Mug2 A G 6: 122,049,712 (GRCm39) E915G probably damaging Het
Oosp2 T C 19: 11,628,847 (GRCm39) T85A probably benign Het
Or5b94 T C 19: 12,652,223 (GRCm39) F218S possibly damaging Het
Or5p68 C T 7: 107,945,813 (GRCm39) R125Q probably damaging Het
Pde4c T A 8: 71,200,701 (GRCm39) probably benign Het
Pdxdc1 T C 16: 13,693,945 (GRCm39) E159G possibly damaging Het
Poln T C 5: 34,286,721 (GRCm39) E149G probably damaging Het
Pou5f2 T G 13: 78,174,024 (GRCm39) L322R probably damaging Het
Ppm1k A T 6: 57,501,997 (GRCm39) S55R possibly damaging Het
Ptges2 T A 2: 32,287,719 (GRCm39) I149N probably damaging Het
Pus7l A G 15: 94,427,369 (GRCm39) V471A possibly damaging Het
Raet1e A T 10: 22,056,666 (GRCm39) M81L probably benign Het
Sipa1l3 A G 7: 29,098,956 (GRCm39) S438P probably damaging Het
Skint5 T A 4: 113,799,750 (GRCm39) K126* probably null Het
Stfa2 T C 16: 36,225,569 (GRCm39) T37A probably damaging Het
Ttll12 A G 15: 83,465,897 (GRCm39) I433T possibly damaging Het
Vmn2r32 C T 7: 7,467,116 (GRCm39) G804D probably damaging Het
Zc3h14 A G 12: 98,740,560 (GRCm39) T84A probably benign Het
Other mutations in Ctps2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01832:Ctps2 APN X 161,719,699 (GRCm39) splice site probably benign
Posted On 2015-04-16