Incidental Mutation 'R3871:Nt5e'
ID 276565
Institutional Source Beutler Lab
Gene Symbol Nt5e
Ensembl Gene ENSMUSG00000032420
Gene Name 5' nucleotidase, ecto
Synonyms ecto-5'-nucleotidase, 2210401F01Rik, CD73, Nt5
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3871 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 88209662-88254142 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88246746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 327 (N327K)
Ref Sequence ENSEMBL: ENSMUSP00000034992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034992]
AlphaFold Q61503
Predicted Effect probably benign
Transcript: ENSMUST00000034992
AA Change: N327K

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: N327K

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:Metallophos 31 248 2.1e-15 PFAM
Pfam:5_nucleotid_C 340 515 4.9e-45 PFAM
transmembrane domain 553 575 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187166
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a membrane-bound nucleotidase that hydrolyzes extracellular nucleoside monophosphates. The encoded preproprotein undergoes proteolytic processing to generate to a functional, homodimeric enzyme that preferentially uses adenosine monophosphate as a substrate to generate free adenosine. Mice lacking the encoded protein exhibit a significantly reduced fall in stop flow pressure and superficial nephron glomerular filtration rate in response to a saturating increase of tubular perfusion flow. [provided by RefSeq, Sep 2016]
PHENOTYPE: Homozygous null mice for one allele are viable and fertile with increased circulating alkaline phosphatase and impaired tubuloglomerular feedback regulation. Homozygous null mice for a second allele display increased vascular permeability especially under hypoxic conditions. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh1a1 T A 19: 20,602,117 (GRCm39) Y225* probably null Het
Bard1 T C 1: 71,114,099 (GRCm39) K294R probably benign Het
Bcap29 A T 12: 31,667,080 (GRCm39) S194T probably benign Het
Ccdc40 G A 11: 119,155,107 (GRCm39) V1116M probably damaging Het
Cntnap5a A G 1: 115,987,979 (GRCm39) E170G probably damaging Het
Crygs C T 16: 22,624,301 (GRCm39) G102D possibly damaging Het
Cyp2c54 T C 19: 40,060,867 (GRCm39) D92G probably benign Het
Dpp6 T C 5: 27,674,463 (GRCm39) F197L probably benign Het
Filip1l G T 16: 57,333,649 (GRCm39) K147N probably damaging Het
Hrnr T A 3: 93,239,181 (GRCm39) S3140T unknown Het
Igfn1 G T 1: 135,896,574 (GRCm39) H1331N probably benign Het
Kalrn C T 16: 34,024,226 (GRCm39) probably null Het
Kmt2d TTGCTGCTGCTGCTGCTGCTGCTGC TTGCTGCTGCTGCTGCTGC 15: 98,748,902 (GRCm39) probably benign Het
Mfng A G 15: 78,640,821 (GRCm39) L308P probably damaging Het
Or5m13 T G 2: 85,748,926 (GRCm39) probably null Het
Pgbd1 C T 13: 21,618,540 (GRCm39) R39H possibly damaging Het
Phactr4 T C 4: 132,104,560 (GRCm39) T256A probably benign Het
Rab24 T C 13: 55,468,992 (GRCm39) D63G probably damaging Het
Rubcnl C T 14: 75,278,356 (GRCm39) P380L probably benign Het
Satb2 A G 1: 56,930,379 (GRCm39) S215P probably damaging Het
Serpina3b A T 12: 104,105,047 (GRCm39) I408F probably damaging Het
Setx A G 2: 29,035,753 (GRCm39) D746G probably damaging Het
Sf3a2 A C 10: 80,640,527 (GRCm39) probably benign Het
Snx33 T C 9: 56,834,024 (GRCm39) N15S probably benign Het
Snx9 C T 17: 5,942,056 (GRCm39) P61L probably benign Het
Sult2a6 T C 7: 13,988,701 (GRCm39) K20E probably benign Het
Tas2r122 A G 6: 132,688,543 (GRCm39) S117P probably benign Het
Tmem26 G A 10: 68,614,562 (GRCm39) E326K probably benign Het
Tnpo2 T A 8: 85,781,380 (GRCm39) C789S probably null Het
Togaram1 A C 12: 65,049,419 (GRCm39) E1285D probably benign Het
Ubxn7 T A 16: 32,200,248 (GRCm39) S335T possibly damaging Het
Unc119b G A 5: 115,268,567 (GRCm39) T106M probably damaging Het
Usp14 A G 18: 10,002,370 (GRCm39) S314P possibly damaging Het
Usp32 T C 11: 84,971,982 (GRCm39) D129G probably null Het
Other mutations in Nt5e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01794:Nt5e APN 9 88,249,351 (GRCm39) missense probably damaging 0.97
IGL02015:Nt5e APN 9 88,249,290 (GRCm39) missense probably damaging 1.00
IGL02351:Nt5e APN 9 88,209,946 (GRCm39) missense probably damaging 1.00
IGL02358:Nt5e APN 9 88,209,946 (GRCm39) missense probably damaging 1.00
IGL02826:Nt5e APN 9 88,237,758 (GRCm39) missense probably damaging 0.97
IGL03237:Nt5e APN 9 88,237,787 (GRCm39) missense probably damaging 1.00
R0092:Nt5e UTSW 9 88,252,338 (GRCm39) missense probably benign 0.00
R0238:Nt5e UTSW 9 88,249,385 (GRCm39) missense possibly damaging 0.81
R0238:Nt5e UTSW 9 88,249,385 (GRCm39) missense possibly damaging 0.81
R0557:Nt5e UTSW 9 88,248,519 (GRCm39) missense probably damaging 1.00
R1727:Nt5e UTSW 9 88,210,082 (GRCm39) missense possibly damaging 0.87
R1834:Nt5e UTSW 9 88,252,240 (GRCm39) missense probably damaging 1.00
R2361:Nt5e UTSW 9 88,252,290 (GRCm39) missense possibly damaging 0.67
R4990:Nt5e UTSW 9 88,237,646 (GRCm39) missense probably benign 0.03
R5039:Nt5e UTSW 9 88,245,634 (GRCm39) missense probably benign 0.00
R5642:Nt5e UTSW 9 88,209,740 (GRCm39) start codon destroyed probably null 0.02
R5812:Nt5e UTSW 9 88,251,108 (GRCm39) missense probably damaging 1.00
R6389:Nt5e UTSW 9 88,245,524 (GRCm39) missense probably damaging 1.00
R7003:Nt5e UTSW 9 88,246,805 (GRCm39) missense probably damaging 1.00
R8325:Nt5e UTSW 9 88,245,615 (GRCm39) missense probably benign 0.16
R9035:Nt5e UTSW 9 88,246,873 (GRCm39) missense probably benign 0.01
R9191:Nt5e UTSW 9 88,246,874 (GRCm39) missense possibly damaging 0.90
R9467:Nt5e UTSW 9 88,249,416 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CCTAAGGGATTTTATAGCCACAACC -3'
(R):5'- AGTCATGCTTCTGTCTGGGC -3'

Sequencing Primer
(F):5'- GGATTTTATAGCCACAACCAAAATGC -3'
(R):5'- CTTCTGTCTGGGCACAAAATG -3'
Posted On 2015-04-06