Incidental Mutation 'IGL02347:Nt5c2'
ID 289345
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5c2
Ensembl Gene ENSMUSG00000025041
Gene Name 5'-nucleotidase, cytosolic II
Synonyms cN-II, PNT5, NT5B
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # IGL02347
Quality Score
Status
Chromosome 19
Chromosomal Location 46873829-47003613 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 46912695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000130898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086961] [ENSMUST00000168536] [ENSMUST00000172239]
AlphaFold Q3V1L4
Predicted Effect probably benign
Transcript: ENSMUST00000086961
SMART Domains Protein: ENSMUSP00000084180
Gene: ENSMUSG00000025041

DomainStartEndE-ValueType
Pfam:5_nucleotid 60 518 3.5e-185 PFAM
low complexity region 574 585 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000168536
SMART Domains Protein: ENSMUSP00000129126
Gene: ENSMUSG00000025041

DomainStartEndE-ValueType
Pfam:5_nucleotid 35 493 1.6e-185 PFAM
low complexity region 549 560 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000172239
SMART Domains Protein: ENSMUSP00000130898
Gene: ENSMUSG00000025041

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
Pfam:5_nucleotid 61 515 6.5e-179 PFAM
low complexity region 575 586 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]
PHENOTYPE: Bone marrow cells with a nucleotide substitution allele used in a transplantation experiment following tamoxifen-induction produce NOTCH1-induced tumors that are resistant to 6-mercaptopurine chemotherapy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9830107B12Rik T A 17: 48,452,835 (GRCm39) K35* probably null Het
Adad2 G T 8: 120,343,408 (GRCm39) G546V probably damaging Het
Bccip A G 7: 133,311,105 (GRCm39) K7E probably benign Het
C8b G A 4: 104,644,151 (GRCm39) E273K probably benign Het
Car12 T A 9: 66,671,629 (GRCm39) V352D possibly damaging Het
Cyp2d11 G A 15: 82,274,681 (GRCm39) R299C probably benign Het
Dnah10 A C 5: 124,910,487 (GRCm39) probably null Het
Eddm13 A G 7: 6,272,883 (GRCm39) I79M possibly damaging Het
Egf A T 3: 129,472,026 (GRCm39) N1199K probably benign Het
Ehbp1l1 A G 19: 5,769,600 (GRCm39) W568R possibly damaging Het
Eif1ad14 T C 12: 87,886,359 (GRCm39) D90G probably damaging Het
Emc3 A G 6: 113,497,533 (GRCm39) M106T possibly damaging Het
Fam13b T C 18: 34,587,757 (GRCm39) K514E probably damaging Het
Fhdc1 G A 3: 84,352,042 (GRCm39) A1061V possibly damaging Het
Frg2f1 A C 4: 119,387,929 (GRCm39) L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 (GRCm39) probably null Het
Glis3 A G 19: 28,509,283 (GRCm39) F234L probably benign Het
Grap2 T C 15: 80,530,557 (GRCm39) probably benign Het
H2-M10.2 T A 17: 36,596,505 (GRCm39) E113D probably benign Het
Itgb6 T C 2: 60,441,756 (GRCm39) T685A probably benign Het
Mrpl19 A T 6: 81,938,992 (GRCm39) M270K probably damaging Het
Msantd4 G T 9: 4,384,734 (GRCm39) probably benign Het
Msr1 G T 8: 40,085,778 (GRCm39) T34K probably damaging Het
Npc1 C T 18: 12,332,691 (GRCm39) V780M probably benign Het
Nsun6 A G 2: 15,034,831 (GRCm39) probably benign Het
Nucb2 A C 7: 116,135,113 (GRCm39) Q340P probably benign Het
Nup50l A T 6: 96,142,511 (GRCm39) Y178N probably damaging Het
Or2l13b A G 16: 19,349,529 (GRCm39) L47P probably damaging Het
Or3a1b C T 11: 74,012,397 (GRCm39) T94I probably benign Het
Osgin1 A G 8: 120,172,277 (GRCm39) E357G probably benign Het
Pabpc6 C T 17: 9,887,993 (GRCm39) R186K probably benign Het
Pex1 A G 5: 3,653,350 (GRCm39) K83R probably damaging Het
Ppid A G 3: 79,502,526 (GRCm39) I82V probably benign Het
Pygl C T 12: 70,248,666 (GRCm39) G318S probably benign Het
Rcn1 A T 2: 105,229,471 (GRCm39) V27E probably benign Het
Rnaseh1 A T 12: 28,707,629 (GRCm39) probably benign Het
Rnf148 A G 6: 23,654,729 (GRCm39) V89A probably benign Het
Siglecf G A 7: 43,001,145 (GRCm39) V38I possibly damaging Het
Slc13a5 T C 11: 72,149,780 (GRCm39) probably null Het
Slc26a4 C T 12: 31,578,853 (GRCm39) probably benign Het
Sos2 A T 12: 69,643,520 (GRCm39) D953E probably benign Het
Strbp A C 2: 37,535,660 (GRCm39) V16G probably benign Het
Sycp1 A T 3: 102,800,863 (GRCm39) M567K probably benign Het
Tedc2 A C 17: 24,439,584 (GRCm39) V19G probably damaging Het
Tjp1 A G 7: 64,950,812 (GRCm39) probably null Het
Ttn A T 2: 76,539,564 (GRCm39) V26147E probably damaging Het
Vmn1r86 A G 7: 12,836,574 (GRCm39) S51P probably damaging Het
Vmn2r83 A G 10: 79,316,067 (GRCm39) T488A possibly damaging Het
Zfp541 A G 7: 15,817,390 (GRCm39) Y945C probably damaging Het
Other mutations in Nt5c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Nt5c2 APN 19 46,884,954 (GRCm39) missense possibly damaging 0.91
IGL00814:Nt5c2 APN 19 46,886,087 (GRCm39) missense probably benign 0.02
IGL02630:Nt5c2 APN 19 46,912,749 (GRCm39) missense probably benign 0.00
tightrope UTSW 19 46,912,766 (GRCm39) missense probably damaging 1.00
R0565:Nt5c2 UTSW 19 46,886,064 (GRCm39) missense probably damaging 0.99
R0825:Nt5c2 UTSW 19 46,887,344 (GRCm39) unclassified probably benign
R0980:Nt5c2 UTSW 19 46,887,317 (GRCm39) missense probably benign
R1496:Nt5c2 UTSW 19 46,893,417 (GRCm39) missense probably damaging 1.00
R2394:Nt5c2 UTSW 19 46,878,506 (GRCm39) critical splice donor site probably null
R3854:Nt5c2 UTSW 19 46,884,957 (GRCm39) missense probably damaging 1.00
R3855:Nt5c2 UTSW 19 46,884,957 (GRCm39) missense probably damaging 1.00
R3856:Nt5c2 UTSW 19 46,884,957 (GRCm39) missense probably damaging 1.00
R4534:Nt5c2 UTSW 19 46,880,100 (GRCm39) missense probably damaging 1.00
R4907:Nt5c2 UTSW 19 46,884,978 (GRCm39) missense possibly damaging 0.71
R5122:Nt5c2 UTSW 19 46,878,360 (GRCm39) missense probably damaging 1.00
R5203:Nt5c2 UTSW 19 46,878,247 (GRCm39) missense probably damaging 1.00
R5226:Nt5c2 UTSW 19 46,887,068 (GRCm39) missense probably damaging 1.00
R5254:Nt5c2 UTSW 19 46,881,999 (GRCm39) nonsense probably null
R5315:Nt5c2 UTSW 19 46,880,682 (GRCm39) missense probably damaging 1.00
R6401:Nt5c2 UTSW 19 46,878,250 (GRCm39) missense probably benign 0.11
R6784:Nt5c2 UTSW 19 46,912,766 (GRCm39) missense probably damaging 1.00
R7040:Nt5c2 UTSW 19 46,881,974 (GRCm39) missense possibly damaging 0.52
R7414:Nt5c2 UTSW 19 46,878,328 (GRCm39) missense probably damaging 1.00
R7792:Nt5c2 UTSW 19 46,878,385 (GRCm39) missense probably benign 0.02
R7793:Nt5c2 UTSW 19 46,880,020 (GRCm39) missense probably benign 0.23
R8380:Nt5c2 UTSW 19 46,877,489 (GRCm39) missense probably damaging 1.00
R8954:Nt5c2 UTSW 19 46,877,361 (GRCm39) missense probably damaging 0.98
R9429:Nt5c2 UTSW 19 46,877,459 (GRCm39) missense probably benign 0.08
R9623:Nt5c2 UTSW 19 46,877,409 (GRCm39) missense
X0028:Nt5c2 UTSW 19 46,880,054 (GRCm39) missense probably damaging 1.00
X0065:Nt5c2 UTSW 19 46,878,527 (GRCm39) missense possibly damaging 0.62
Posted On 2015-04-16