Incidental Mutation 'R5203:Nt5c2'
ID 398309
Institutional Source Beutler Lab
Gene Symbol Nt5c2
Ensembl Gene ENSMUSG00000025041
Gene Name 5'-nucleotidase, cytosolic II
Synonyms cN-II, PNT5, NT5B
MMRRC Submission 042778-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.323) question?
Stock # R5203 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 46873829-47003613 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46878247 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 497 (Y497H)
Ref Sequence ENSEMBL: ENSMUSP00000130898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000086961] [ENSMUST00000168536] [ENSMUST00000172239]
AlphaFold Q3V1L4
Predicted Effect probably damaging
Transcript: ENSMUST00000086961
AA Change: Y496H

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000084180
Gene: ENSMUSG00000025041
AA Change: Y496H

DomainStartEndE-ValueType
Pfam:5_nucleotid 60 518 3.5e-185 PFAM
low complexity region 574 585 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000168536
AA Change: Y471H

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129126
Gene: ENSMUSG00000025041
AA Change: Y471H

DomainStartEndE-ValueType
Pfam:5_nucleotid 35 493 1.6e-185 PFAM
low complexity region 549 560 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000172239
AA Change: Y497H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130898
Gene: ENSMUSG00000025041
AA Change: Y497H

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
Predicted Effect probably benign
Transcript: ENSMUST00000174731
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.1%
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T G 16: 4,653,462 (GRCm39) S4A unknown Het
Adgrv1 A T 13: 81,659,024 (GRCm39) N2053K possibly damaging Het
Akr1c13 C T 13: 4,247,896 (GRCm39) R223* probably null Het
Arhgef11 A G 3: 87,642,664 (GRCm39) Y1370C probably damaging Het
Arid1a T C 4: 133,409,314 (GRCm39) E1731G unknown Het
Cyp2c54 A T 19: 40,060,918 (GRCm39) V75E probably damaging Het
Fa2h A G 8: 112,075,996 (GRCm39) M209T probably benign Het
Fam171a1 T C 2: 3,224,582 (GRCm39) I311T probably damaging Het
Fat3 C A 9: 16,289,438 (GRCm39) L28F possibly damaging Het
Fntb C A 12: 76,884,346 (GRCm39) P22Q probably benign Het
Gmeb1 T C 4: 131,959,320 (GRCm39) probably null Het
Gpr22 A G 12: 31,759,787 (GRCm39) S112P probably damaging Het
Htr7 A G 19: 35,941,792 (GRCm39) S464P probably benign Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Krt79 A G 15: 101,838,175 (GRCm39) S527P unknown Het
Lnpep A T 17: 17,757,325 (GRCm39) D858E probably damaging Het
Ly9 C A 1: 171,427,347 (GRCm39) V403F probably damaging Het
Mindy4 A G 6: 55,232,646 (GRCm39) Q363R probably benign Het
Mtmr10 G A 7: 63,967,909 (GRCm39) V273I probably benign Het
Mup2 T A 4: 60,139,728 (GRCm39) E20V probably damaging Het
Myo16 A G 8: 10,410,995 (GRCm39) N151S probably damaging Het
Nod2 A C 8: 89,391,079 (GRCm39) D462A probably damaging Het
Or12d2 A T 17: 37,625,092 (GRCm39) L61Q probably damaging Het
Or4k44 A C 2: 111,367,981 (GRCm39) Y218D probably damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pcdhac1 A T 18: 37,224,243 (GRCm39) D352V probably damaging Het
Psap A G 10: 60,130,755 (GRCm39) D195G probably damaging Het
Scyl1 G A 19: 5,821,395 (GRCm39) probably benign Het
Sh3bgr A G 16: 96,025,720 (GRCm39) probably benign Het
Slc2a12 G T 10: 22,521,213 (GRCm39) probably null Het
Slc2a12 G C 10: 22,568,117 (GRCm39) V515L probably benign Het
Ttc17 T C 2: 94,209,061 (GRCm39) Y131C probably damaging Het
Ttc27 A G 17: 75,084,649 (GRCm39) D419G probably damaging Het
Ubxn8 T C 8: 34,123,639 (GRCm39) E100G probably damaging Het
Zpbp T C 11: 11,358,451 (GRCm39) E272G 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
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
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
Predicted Primers PCR Primer
(F):5'- GGCACCTCTCAATGTAACCC -3'
(R):5'- ATGTAGTTGCATAGCTGAGACC -3'

Sequencing Primer
(F):5'- CAGATGGCTGTGAGCTACCATG -3'
(R):5'- ATGATGGGAAGCCTGTTC -3'
Posted On 2016-07-06