Incidental Mutation 'IGL02630:Nt5c2'
ID 301255
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 # IGL02630
Quality Score
Status
Chromosome 19
Chromosomal Location 46873829-47003613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46912749 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3V1L4
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: 8,989,441 (GRCm39) V3575E probably damaging Het
Arfgef3 G A 10: 18,537,140 (GRCm39) probably benign Het
Arhgap23 A G 11: 97,345,123 (GRCm39) T631A probably benign Het
Chka T A 19: 3,942,112 (GRCm39) H355Q possibly damaging Het
Ctsj C T 13: 61,149,214 (GRCm39) A277T probably damaging Het
Ddx49 T C 8: 70,753,668 (GRCm39) D67G probably damaging Het
Dennd4b T C 3: 90,180,284 (GRCm39) S716P probably benign Het
Enpp5 G T 17: 44,393,766 (GRCm39) D321Y probably damaging Het
Espl1 A G 15: 102,205,253 (GRCm39) E17G probably benign Het
Fam161b G A 12: 84,400,688 (GRCm39) P428L probably benign Het
Fbxw7 T C 3: 84,872,586 (GRCm39) L256S probably damaging Het
Fgfr2 G T 7: 129,830,525 (GRCm39) probably null Het
Foxred2 C T 15: 77,831,362 (GRCm39) V484I probably benign Het
Gm4744 T A 6: 40,927,403 (GRCm39) probably benign Het
H3c1 C T 13: 23,946,231 (GRCm39) V36M probably benign Het
Hipk2 T C 6: 38,795,456 (GRCm39) N271S possibly damaging Het
Ifna1 A G 4: 88,768,496 (GRCm39) D58G possibly damaging Het
Igkv4-80 A T 6: 68,993,680 (GRCm39) Y70* probably null Het
Ivns1abp G A 1: 151,235,386 (GRCm39) R218H probably damaging Het
Kng1 A T 16: 22,898,595 (GRCm39) probably benign Het
Lars1 T C 18: 42,390,234 (GRCm39) D11G probably damaging Het
Lgals12 T C 19: 7,578,607 (GRCm39) probably benign Het
Lpar4 T A X: 105,974,817 (GRCm39) F334I probably benign Het
Muc5b G A 7: 141,416,968 (GRCm39) G3305S probably benign Het
Nalcn T C 14: 123,555,291 (GRCm39) D864G probably benign Het
Ndor1 T C 2: 25,145,299 (GRCm39) E22G probably damaging Het
Or52ab4 A C 7: 102,987,636 (GRCm39) Y125S probably damaging Het
Or8k22 T C 2: 86,163,212 (GRCm39) I163V probably benign Het
Pde12 A T 14: 26,387,552 (GRCm39) H455Q probably damaging Het
Pdia6 A G 12: 17,324,422 (GRCm39) H91R probably benign Het
Pdk4 A T 6: 5,491,671 (GRCm39) I179K possibly damaging Het
Prl2c1 T C 13: 28,041,480 (GRCm39) probably benign Het
Rasgrf2 C T 13: 92,267,900 (GRCm39) E35K probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sash1 T A 10: 8,620,299 (GRCm39) M454L probably benign Het
Secisbp2 C A 13: 51,832,942 (GRCm39) T608K possibly damaging Het
Slco1a7 T C 6: 141,668,836 (GRCm39) Y532C probably damaging Het
Slmap A G 14: 26,143,586 (GRCm39) V750A possibly damaging Het
Spaca6 T A 17: 18,051,351 (GRCm39) L9Q probably damaging Het
Sycp1 T C 3: 102,786,080 (GRCm39) probably benign Het
Sycp2 A T 2: 178,043,712 (GRCm39) D131E probably damaging Het
Tc2n A T 12: 101,659,404 (GRCm39) D176E probably damaging Het
Thoc7 T C 14: 13,953,154 (GRCm38) I83V probably damaging Het
Trank1 T C 9: 111,202,143 (GRCm39) V1590A possibly damaging Het
Tyrp1 T C 4: 80,758,994 (GRCm39) V289A possibly damaging Het
Ube2dnl1 T A X: 113,815,483 (GRCm39) C119* probably null Het
Vmn1r191 T A 13: 22,363,431 (GRCm39) I108F possibly damaging Het
Zfp710 T A 7: 79,731,789 (GRCm39) I322N 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
IGL02347:Nt5c2 APN 19 46,912,695 (GRCm39) splice site probably benign
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