Incidental Mutation 'IGL02630:Nt5c2'
ID301255
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5c2
Ensembl Gene ENSMUSG00000025041
Gene Name5'-nucleotidase, cytosolic II
SynonymsPNT5, NT5B, cN-II
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.403) question?
Stock #IGL02630
Quality Score
Status
Chromosome19
Chromosomal Location46886831-47015153 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 46924310 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 69 (M69L)
Ref Sequence ENSEMBL: ENSMUSP00000130898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086961] [ENSMUST00000168536] [ENSMUST00000172239]
Predicted Effect probably benign
Transcript: ENSMUST00000086961
AA Change: M68L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000084180
Gene: ENSMUSG00000025041
AA Change: M68L

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
AA Change: M43L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129126
Gene: ENSMUSG00000025041
AA Change: M43L

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
AA Change: M69L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000130898
Gene: ENSMUSG00000025041
AA Change: M69L

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak T A 19: 9,012,077 V3575E probably damaging Het
Arfgef3 G A 10: 18,661,392 probably benign Het
Arhgap23 A G 11: 97,454,297 T631A probably benign Het
Chka T A 19: 3,892,112 H355Q possibly damaging Het
Ctsj C T 13: 61,001,400 A277T probably damaging Het
Ddx49 T C 8: 70,301,018 D67G probably damaging Het
Dennd4b T C 3: 90,272,977 S716P probably benign Het
Enpp5 G T 17: 44,082,875 D321Y probably damaging Het
Espl1 A G 15: 102,296,818 E17G probably benign Het
Fam161b G A 12: 84,353,914 P428L probably benign Het
Fbxw7 T C 3: 84,965,279 L256S probably damaging Het
Fgfr2 G T 7: 130,228,795 probably null Het
Foxred2 C T 15: 77,947,162 V484I probably benign Het
Gm4744 T A 6: 40,950,469 probably benign Het
Gm5724 T C 6: 141,723,110 Y532C probably damaging Het
Hipk2 T C 6: 38,818,521 N271S possibly damaging Het
Hist1h3a C T 13: 23,762,248 V36M probably benign Het
Ifna1 A G 4: 88,850,259 D58G possibly damaging Het
Igkv4-80 A T 6: 69,016,696 Y70* probably null Het
Ivns1abp G A 1: 151,359,635 R218H probably damaging Het
Kng1 A T 16: 23,079,845 probably benign Het
Lars T C 18: 42,257,169 D11G probably damaging Het
Lgals12 T C 19: 7,601,242 probably benign Het
Lpar4 T A X: 106,931,211 F334I probably benign Het
Muc5b G A 7: 141,863,231 G3305S probably benign Het
Nalcn T C 14: 123,317,879 D864G probably benign Het
Ndor1 T C 2: 25,255,287 E22G probably damaging Het
Olfr1054 T C 2: 86,332,868 I163V probably benign Het
Olfr599 A C 7: 103,338,429 Y125S probably damaging Het
Pde12 A T 14: 26,666,397 H455Q probably damaging Het
Pdia6 A G 12: 17,274,421 H91R probably benign Het
Pdk4 A T 6: 5,491,671 I179K possibly damaging Het
Prl2c1 T C 13: 27,857,497 probably benign Het
Rasgrf2 C T 13: 92,131,392 E35K probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Sash1 T A 10: 8,744,535 M454L probably benign Het
Secisbp2 C A 13: 51,678,906 T608K possibly damaging Het
Slmap A G 14: 26,422,431 V750A possibly damaging Het
Spaca6 T A 17: 17,831,089 L9Q probably damaging Het
Sycp1 T C 3: 102,878,764 probably benign Het
Sycp2 A T 2: 178,401,919 D131E probably damaging Het
Tc2n A T 12: 101,693,145 D176E probably damaging Het
Thoc7 T C 14: 13,953,154 I83V probably damaging Het
Trank1 T C 9: 111,373,075 V1590A possibly damaging Het
Tyrp1 T C 4: 80,840,757 V289A possibly damaging Het
Ube2dnl1 T A X: 114,905,786 C119* probably null Het
Vmn1r191 T A 13: 22,179,261 I108F possibly damaging Het
Zfp710 T A 7: 80,082,041 I322N probably damaging Het
Other mutations in Nt5c2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00332:Nt5c2 APN 19 46896515 missense possibly damaging 0.91
IGL00814:Nt5c2 APN 19 46897648 missense probably benign 0.02
IGL02347:Nt5c2 APN 19 46924256 splice site probably benign
tightrope UTSW 19 46924327 missense probably damaging 1.00
R0565:Nt5c2 UTSW 19 46897625 missense probably damaging 0.99
R0825:Nt5c2 UTSW 19 46898905 unclassified probably benign
R0980:Nt5c2 UTSW 19 46898878 missense probably benign
R1496:Nt5c2 UTSW 19 46904978 missense probably damaging 1.00
R2394:Nt5c2 UTSW 19 46890067 critical splice donor site probably null
R3854:Nt5c2 UTSW 19 46896518 missense probably damaging 1.00
R3855:Nt5c2 UTSW 19 46896518 missense probably damaging 1.00
R3856:Nt5c2 UTSW 19 46896518 missense probably damaging 1.00
R4534:Nt5c2 UTSW 19 46891661 missense probably damaging 1.00
R4907:Nt5c2 UTSW 19 46896539 missense possibly damaging 0.71
R5122:Nt5c2 UTSW 19 46889921 missense probably damaging 1.00
R5203:Nt5c2 UTSW 19 46889808 missense probably damaging 1.00
R5226:Nt5c2 UTSW 19 46898629 missense probably damaging 1.00
R5254:Nt5c2 UTSW 19 46893560 nonsense probably null
R5315:Nt5c2 UTSW 19 46892243 missense probably damaging 1.00
R6401:Nt5c2 UTSW 19 46889811 missense probably benign 0.11
R6784:Nt5c2 UTSW 19 46924327 missense probably damaging 1.00
R7040:Nt5c2 UTSW 19 46893535 missense possibly damaging 0.52
R7414:Nt5c2 UTSW 19 46889889 missense probably damaging 1.00
R7792:Nt5c2 UTSW 19 46889946 missense probably benign 0.02
R7793:Nt5c2 UTSW 19 46891581 missense probably benign 0.23
X0028:Nt5c2 UTSW 19 46891615 missense probably damaging 1.00
X0065:Nt5c2 UTSW 19 46890088 missense possibly damaging 0.62
Posted On2015-04-16