Incidental Mutation 'IGL02826:Nt5e'
ID 361226
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02826
Quality Score
Status
Chromosome 9
Chromosomal Location 88209662-88254142 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 88237758 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 229 (K229N)
Ref Sequence ENSEMBL: ENSMUSP00000034992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034992]
AlphaFold Q61503
Predicted Effect probably damaging
Transcript: ENSMUST00000034992
AA Change: K229N

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: K229N

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217134
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,655,302 (GRCm39) probably benign Het
Alk C T 17: 72,176,531 (GRCm39) G1591D probably damaging Het
Angptl2 T C 2: 33,118,327 (GRCm39) S34P probably benign Het
Atp2a2 A G 5: 122,627,354 (GRCm39) V137A probably benign Het
Atp8b5 A G 4: 43,366,770 (GRCm39) M845V probably damaging Het
Camk1d A G 2: 5,570,571 (GRCm39) V30A possibly damaging Het
Ceacam19 G A 7: 19,616,535 (GRCm39) T193I probably benign Het
Cfap298 A C 16: 90,722,950 (GRCm39) D261E probably benign Het
Chst15 T A 7: 131,868,475 (GRCm39) D315V probably damaging Het
Cux1 G T 5: 136,336,857 (GRCm39) P885Q probably damaging Het
Cyth1 C T 11: 118,076,307 (GRCm39) E88K possibly damaging Het
Dido1 A G 2: 180,325,751 (GRCm39) V479A probably benign Het
Dlc1 G T 8: 37,037,429 (GRCm39) probably benign Het
H2-Ab1 G A 17: 34,483,885 (GRCm39) R82Q probably damaging Het
Hps6 T A 19: 45,994,480 (GRCm39) *806K probably null Het
Ilf3 T C 9: 21,309,340 (GRCm39) S486P probably benign Het
Kdm1b C A 13: 47,233,943 (GRCm39) T759K probably damaging Het
Kirrel1 C A 3: 86,995,792 (GRCm39) V381F probably damaging Het
Kmt2b A T 7: 30,276,569 (GRCm39) V1701E probably damaging Het
Lrmda T C 14: 22,878,805 (GRCm39) Y100H probably damaging Het
Mastl T C 2: 23,035,421 (GRCm39) I169V probably damaging Het
Mroh2b A G 15: 4,991,630 (GRCm39) E1576G probably damaging Het
Nek3 A T 8: 22,650,384 (GRCm39) probably null Het
Nipal3 G T 4: 135,195,861 (GRCm39) Y247* probably null Het
Opa1 A G 16: 29,429,705 (GRCm39) M290V probably null Het
Or2a14 A G 6: 43,130,511 (GRCm39) I91V possibly damaging Het
Or8d6 G T 9: 39,854,254 (GRCm39) G233C probably damaging Het
Parp2 T A 14: 51,052,872 (GRCm39) I155K probably benign Het
Pde4dip G T 3: 97,674,403 (GRCm39) A171E probably damaging Het
Prom2 C T 2: 127,373,036 (GRCm39) E678K probably benign Het
Rab12 A G 17: 66,805,111 (GRCm39) probably benign Het
Rgs8 A T 1: 153,546,545 (GRCm39) T13S probably damaging Het
Setd3 A G 12: 108,078,383 (GRCm39) probably benign Het
Shisal1 A G 15: 84,304,330 (GRCm39) probably benign Het
Slx4ip G A 2: 136,846,893 (GRCm39) V53I probably damaging Het
Stil A G 4: 114,881,295 (GRCm39) D613G probably benign Het
Tektip1 A G 10: 81,200,570 (GRCm39) probably benign Het
Tjp3 T A 10: 81,109,523 (GRCm39) S858C probably damaging Het
Tmem215 A G 4: 40,474,632 (GRCm39) *236W probably null Het
Ttbk1 A G 17: 46,781,586 (GRCm39) V389A probably benign Het
Wdfy4 A G 14: 32,693,707 (GRCm39) F2706S possibly damaging Het
Xpo4 C A 14: 57,866,877 (GRCm39) V222L possibly damaging Het
Zfc3h1 A G 10: 115,236,809 (GRCm39) S428G probably benign Het
Zfp286 T C 11: 62,678,786 (GRCm39) Q47R probably damaging Het
Zfp318 A G 17: 46,709,680 (GRCm39) K468E probably damaging 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
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
R3871:Nt5e UTSW 9 88,246,746 (GRCm39) missense probably benign 0.04
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
Posted On 2015-12-18