Incidental Mutation 'R8753:Nt5c3'
ID 663970
Institutional Source Beutler Lab
Gene Symbol Nt5c3
Ensembl Gene ENSMUSG00000029780
Gene Name 5'-nucleotidase, cytosolic III
Synonyms lupin, cN-III, Umph-1, p36, 1600024P05Rik, PN-1, 2610206B05Rik, Umph1, PN-I, PSN1
MMRRC Submission 068619-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.202) question?
Stock # R8753 (G1)
Quality Score 201.009
Status Validated
Chromosome 6
Chromosomal Location 56859385-56900917 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to G at 56860677 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 293 (G293R)
Ref Sequence ENSEMBL: ENSMUSP00000031793 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031793] [ENSMUST00000031795] [ENSMUST00000101367] [ENSMUST00000135558] [ENSMUST00000152447]
AlphaFold Q9D020
PDB Structure X-Ray Structure of a Cytosolic 5'-Nucleotidase III from Mus Musculus MM.158936 [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1, with bound magnesium(II) [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1, phospho-enzyme intermediate analog with Beryllium fluoride [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1, product-transition complex analog with Aluminum fluoride [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1, product complex [X-RAY DIFFRACTION]
X-ray structure of mouse pyrimidine 5'-nucleotidase type 1 with lead(II) bound in active site [X-RAY DIFFRACTION]
Ensemble refinement of the protein crystal structure of a cytosolic 5'-nucleotidase III from Mus musculus Mm.158936 [X-RAY DIFFRACTION]
Structure of murine cytosolic 5'-nucleotidase III complexed with uridinine monophosphate [X-RAY DIFFRACTION]
Structure of murine cytosolic 5'-nucleotidase III complexed with thymidine monophosphate [X-RAY DIFFRACTION]
Cytosolic 5'-nucleotidase III complexed with cytidine 5'-monophosphate [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000031793
AA Change: G293R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031793
Gene: ENSMUSG00000029780
AA Change: G293R

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
Pfam:UMPH-1 86 331 5.6e-119 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000031795
SMART Domains Protein: ENSMUSP00000031795
Gene: ENSMUSG00000029781

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:FKBP_C 47 139 8.2e-31 PFAM
Pfam:FKBP_C 159 251 5.8e-28 PFAM
Pfam:FKBP_C 271 362 1.3e-27 PFAM
Pfam:FKBP_C 382 474 2.8e-27 PFAM
EFh 492 520 2.35e0 SMART
EFh 537 565 1.98e0 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000101367
AA Change: G259R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000098918
Gene: ENSMUSG00000029780
AA Change: G259R

DomainStartEndE-ValueType
Pfam:UMPH-1 52 297 2.1e-118 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135558
SMART Domains Protein: ENSMUSP00000145230
Gene: ENSMUSG00000029780

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152447
Predicted Effect probably benign
Transcript: ENSMUST00000205087
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 95% (59/62)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the 5'-nucleotidase family of enzymes that catalyze the dephosphorylation of nucleoside 5'-monophosphates. The encoded protein is the type 1 isozyme of pyrimidine 5' nucleotidase and catalyzes the dephosphorylation of pyrimidine 5' monophosphates. Mutations in this gene are a cause of hemolytic anemia due to uridine 5-prime monophosphate hydrolase deficiency. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and pseudogenes of this gene are located on the long arm of chromosomes 3 and 4. [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca2 T C 2: 25,332,706 (GRCm39) Y1496H probably damaging Het
Acan G A 7: 78,748,516 (GRCm39) E1096K possibly damaging Het
Adprhl1 T C 8: 13,272,118 (GRCm39) K1547E possibly damaging Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Arf4 T A 14: 26,374,114 (GRCm39) probably benign Het
Boc A T 16: 44,320,775 (GRCm39) M295K Het
C2cd3 T A 7: 100,049,024 (GRCm39) probably null Het
Calcrl C G 2: 84,178,659 (GRCm39) G223A probably benign Het
Calcrl C A 2: 84,178,661 (GRCm39) M222I probably benign Het
Ccdc88b T C 19: 6,833,213 (GRCm39) E278G probably damaging Het
Ccz1 A G 5: 143,925,050 (GRCm39) C469R probably benign Het
Cdc40 C T 10: 40,717,480 (GRCm39) D404N probably damaging Het
Clpx G A 9: 65,223,958 (GRCm39) G251S probably damaging Het
Col6a3 C G 1: 90,695,328 (GRCm39) probably benign Het
Cpox T A 16: 58,498,391 (GRCm39) M408K probably damaging Het
Crybb3 A G 5: 113,226,247 (GRCm39) probably null Het
Cubn A T 2: 13,313,377 (GRCm39) C3064* probably null Het
Cxcl3 CCTGCTGCTGCTGCTG CCTGCTGCTGCTG 5: 90,934,071 (GRCm39) probably benign Het
Cyp4a31 A T 4: 115,432,158 (GRCm39) S432C probably benign Het
Ddias A T 7: 92,508,668 (GRCm39) F416I probably damaging Het
Dlat G T 9: 50,560,967 (GRCm39) A360E probably damaging Het
Dnttip2 A G 3: 122,074,398 (GRCm39) T612A probably damaging Het
Fnip1 A G 11: 54,400,867 (GRCm39) T1089A probably damaging Het
Gm12117 A T 11: 33,225,953 (GRCm39) L128M probably benign Het
Gtf2h5 C CA 17: 6,134,833 (GRCm39) probably null Het
Ibtk T C 9: 85,610,819 (GRCm39) T285A probably benign Het
Ifi206 A T 1: 173,301,223 (GRCm39) N818K unknown Het
Itga10 T G 3: 96,558,471 (GRCm39) L305R probably damaging Het
Khnyn T C 14: 56,125,223 (GRCm39) Y461H possibly damaging Het
Macroh2a2 T C 10: 61,585,113 (GRCm39) D177G possibly damaging Het
Mbtps1 T C 8: 120,235,601 (GRCm39) S1026G possibly damaging Het
Msantd4 A G 9: 4,385,013 (GRCm39) E246G probably damaging Het
N4bp1 T C 8: 87,575,085 (GRCm39) I737V probably damaging Het
Nav2 T G 7: 49,102,320 (GRCm39) S373A probably benign Het
Nbea T C 3: 55,534,329 (GRCm39) Y2936C probably damaging Het
Nbeal1 A T 1: 60,307,542 (GRCm39) I1685F probably damaging Het
Or4f14c A T 2: 111,940,802 (GRCm39) V265E probably benign Het
Or52z1 T A 7: 103,436,567 (GRCm39) I306F probably benign Het
Pcnx2 A T 8: 126,613,999 (GRCm39) V484E probably benign Het
Pcsk5 C T 19: 17,446,408 (GRCm39) R1195Q probably benign Het
Perm1 TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT 4: 156,302,525 (GRCm39) probably benign Het
Pitpnm3 A G 11: 71,942,704 (GRCm39) V861A probably benign Het
Pkd1 A G 17: 24,793,176 (GRCm39) Y1621C probably damaging Het
Polr3a C A 14: 24,513,702 (GRCm39) E846* probably null Het
Polr3e T C 7: 120,539,540 (GRCm39) V455A possibly damaging Het
Prr5l C T 2: 101,571,723 (GRCm39) G118D probably damaging Het
Pygl G T 12: 70,242,400 (GRCm39) N685K probably damaging Het
Rfx8 A G 1: 39,757,600 (GRCm39) V56A probably damaging Het
Sbf1 T C 15: 89,179,662 (GRCm39) D1341G probably benign Het
Selenon T C 4: 134,275,330 (GRCm39) T123A probably benign Het
Slc23a1 T G 18: 35,752,631 (GRCm39) K549Q probably benign Het
Slc7a13 T C 4: 19,841,443 (GRCm39) F430S probably damaging Het
Smarcc2 G A 10: 128,319,070 (GRCm39) V707M probably damaging Het
St18 A G 1: 6,916,015 (GRCm39) S887G probably damaging Het
T2 T C 17: 8,615,477 (GRCm39) probably benign Het
Tbc1d16 A G 11: 119,101,492 (GRCm39) L6P probably damaging Het
Tcf7l2 T C 19: 55,920,195 (GRCm39) L576P possibly damaging Het
Tnr A G 1: 159,677,936 (GRCm39) D107G probably benign Het
Trpv1 G T 11: 73,135,082 (GRCm39) K426N probably damaging Het
Vmn1r15 A T 6: 57,235,895 (GRCm39) L254F probably benign Het
Vmn1r219 A T 13: 23,347,191 (GRCm39) I127F probably damaging Het
Zc3h14 A T 12: 98,724,831 (GRCm39) E164D probably benign Het
Other mutations in Nt5c3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Nt5c3 APN 6 56,863,670 (GRCm39) missense probably damaging 1.00
IGL02819:Nt5c3 APN 6 56,860,718 (GRCm39) missense probably damaging 1.00
R0426:Nt5c3 UTSW 6 56,860,797 (GRCm39) missense probably benign
R0523:Nt5c3 UTSW 6 56,860,666 (GRCm39) missense probably damaging 1.00
R0791:Nt5c3 UTSW 6 56,863,734 (GRCm39) missense probably benign 0.02
R0792:Nt5c3 UTSW 6 56,863,734 (GRCm39) missense probably benign 0.02
R1340:Nt5c3 UTSW 6 56,860,018 (GRCm39) missense probably benign 0.02
R3703:Nt5c3 UTSW 6 56,860,652 (GRCm39) unclassified probably benign
R5942:Nt5c3 UTSW 6 56,874,839 (GRCm39) splice site probably null
R6047:Nt5c3 UTSW 6 56,859,964 (GRCm39) missense probably damaging 0.99
R6894:Nt5c3 UTSW 6 56,859,958 (GRCm39) nonsense probably null
R7923:Nt5c3 UTSW 6 56,860,027 (GRCm39) missense probably benign 0.12
R8708:Nt5c3 UTSW 6 56,874,758 (GRCm39) critical splice donor site probably null
R8937:Nt5c3 UTSW 6 56,861,701 (GRCm39) missense probably damaging 1.00
R9198:Nt5c3 UTSW 6 56,859,955 (GRCm39) missense probably benign 0.03
R9206:Nt5c3 UTSW 6 56,874,793 (GRCm39) start codon destroyed probably null 0.72
Predicted Primers PCR Primer
(F):5'- TGCACAGGGATATTCTGACACTC -3'
(R):5'- TCATAGGGAGTGCTGAAAGGATTC -3'

Sequencing Primer
(F):5'- TTCTGACACTCATGACTAGGGAG -3'
(R):5'- CAAAGGAGAGTTAATCCACGTGTTC -3'
Posted On 2021-03-08