Incidental Mutation 'IGL01794:Nt5e'
ID155296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nt5e
Ensembl Gene ENSMUSG00000032420
Gene Name5' nucleotidase, ecto
Synonymsecto-5'-nucleotidase, CD73, Nt5, 2210401F01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01794
Quality Score
Status
Chromosome9
Chromosomal Location88327197-88372092 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 88367298 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 428 (L428F)
Ref Sequence ENSEMBL: ENSMUSP00000034992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034992]
Predicted Effect probably damaging
Transcript: ENSMUST00000034992
AA Change: L428F

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: L428F

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
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: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik T C 6: 50,577,846 I268M probably damaging Het
4930590J08Rik C T 6: 91,918,112 R263* probably null Het
Appl2 A G 10: 83,614,294 V238A probably benign Het
Bcl2l11 T A 2: 128,128,648 S6T probably damaging Het
Bptf A G 11: 107,053,221 probably null Het
Casc4 T A 2: 121,911,926 N206K probably benign Het
Catsper3 T C 13: 55,798,906 S139P possibly damaging Het
Cdh3 A G 8: 106,537,126 N192S possibly damaging Het
Dsc1 A T 18: 20,110,183 I71N probably damaging Het
Fbxw2 A G 2: 34,811,119 probably benign Het
Gad1 G T 2: 70,597,168 V473L probably benign Het
Gtpbp1 C T 15: 79,716,246 T460I probably damaging Het
Krt16 G A 11: 100,247,905 T185I probably benign Het
Mapk1ip1 C T 7: 138,836,697 M1I probably null Het
Olfr474 A G 7: 107,955,295 Y218C probably damaging Het
Pah G T 10: 87,578,922 V379F possibly damaging Het
Scn7a T C 2: 66,675,509 T1679A probably benign Het
Sdccag8 T A 1: 176,845,307 H293Q possibly damaging Het
Suco A G 1: 161,827,725 M1066T probably benign Het
Trim9 A G 12: 70,281,880 Y369H probably damaging Het
Usp34 G A 11: 23,436,020 R2149H probably damaging Het
Other mutations in Nt5e
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02015:Nt5e APN 9 88367237 missense probably damaging 1.00
IGL02351:Nt5e APN 9 88327893 missense probably damaging 1.00
IGL02358:Nt5e APN 9 88327893 missense probably damaging 1.00
IGL02826:Nt5e APN 9 88355705 missense probably damaging 0.97
IGL03237:Nt5e APN 9 88355734 missense probably damaging 1.00
R0092:Nt5e UTSW 9 88370285 missense probably benign 0.00
R0238:Nt5e UTSW 9 88367332 missense possibly damaging 0.81
R0238:Nt5e UTSW 9 88367332 missense possibly damaging 0.81
R0557:Nt5e UTSW 9 88366466 missense probably damaging 1.00
R1727:Nt5e UTSW 9 88328029 missense possibly damaging 0.87
R1834:Nt5e UTSW 9 88370187 missense probably damaging 1.00
R2361:Nt5e UTSW 9 88370237 missense possibly damaging 0.67
R3871:Nt5e UTSW 9 88364693 missense probably benign 0.04
R4990:Nt5e UTSW 9 88355593 missense probably benign 0.03
R5039:Nt5e UTSW 9 88363581 missense probably benign 0.00
R5642:Nt5e UTSW 9 88327687 start codon destroyed probably null 0.02
R5812:Nt5e UTSW 9 88369055 missense probably damaging 1.00
R6389:Nt5e UTSW 9 88363471 missense probably damaging 1.00
R7003:Nt5e UTSW 9 88364752 missense probably damaging 1.00
R8325:Nt5e UTSW 9 88363562 missense probably benign 0.16
Posted On2014-02-04