Incidental Mutation 'IGL03237:Nt5e'
ID 414093
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 # IGL03237
Quality Score
Status
Chromosome 9
Chromosomal Location 88209662-88254142 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88237787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 239 (D239G)
Ref Sequence ENSEMBL: ENSMUSP00000034992 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034992]
AlphaFold Q61503
Predicted Effect probably damaging
Transcript: ENSMUST00000034992
AA Change: D239G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: D239G

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,929,388 (GRCm39) Y405C probably benign Het
Adam19 A G 11: 46,028,383 (GRCm39) K672R probably benign Het
Adamts7 C A 9: 90,070,717 (GRCm39) P613T probably damaging Het
Adgrl1 G T 8: 84,656,312 (GRCm39) probably null Het
Adrb1 A T 19: 56,711,800 (GRCm39) N333Y probably damaging Het
Aqp7 C T 4: 41,034,884 (GRCm39) V190M possibly damaging Het
Atg101 T C 15: 101,185,054 (GRCm39) F59L probably damaging Het
Capn12 T C 7: 28,590,366 (GRCm39) S638P probably damaging Het
Ccm2l T C 2: 152,907,922 (GRCm39) probably benign Het
Cdc14a A T 3: 116,198,275 (GRCm39) probably benign Het
Cdh20 A T 1: 110,066,037 (GRCm39) K770N possibly damaging Het
Clxn A G 16: 14,738,652 (GRCm39) D161G probably damaging Het
Col23a1 A C 11: 51,458,746 (GRCm39) E294D possibly damaging Het
Cped1 A T 6: 22,233,595 (GRCm39) Y679F probably damaging Het
Ctu2 A G 8: 123,205,792 (GRCm39) E180G probably benign Het
Cyp11b2 C T 15: 74,722,914 (GRCm39) V495I probably benign Het
Ecpas A T 4: 58,810,668 (GRCm39) M1563K probably benign Het
Gabrg3 A T 7: 56,632,460 (GRCm39) probably null Het
Hsd17b11 A G 5: 104,151,036 (GRCm39) *233Q probably null Het
Klhl41 T C 2: 69,500,902 (GRCm39) V121A possibly damaging Het
Kptn A T 7: 15,854,050 (GRCm39) D56V probably damaging Het
L3mbtl4 T A 17: 69,084,856 (GRCm39) I589N probably damaging Het
Lpl A T 8: 69,347,378 (GRCm39) N177Y possibly damaging Het
Manba G A 3: 135,250,512 (GRCm39) V380M probably damaging Het
Mecom A T 3: 30,010,648 (GRCm39) probably benign Het
Mertk A G 2: 128,632,192 (GRCm39) E707G probably damaging Het
Myo5a A T 9: 75,037,276 (GRCm39) I160F probably damaging Het
Myo7a A T 7: 97,751,800 (GRCm39) I81N probably damaging Het
Nelfcd G A 2: 174,268,625 (GRCm39) A559T possibly damaging Het
Nipal1 C T 5: 72,824,150 (GRCm39) R76C probably damaging Het
Noc3l C T 19: 38,803,125 (GRCm39) probably null Het
Olr1 A C 6: 129,479,117 (GRCm39) W34G probably damaging Het
Plekhf1 A T 7: 37,920,799 (GRCm39) N256K probably benign Het
Psen2 T C 1: 180,068,414 (GRCm39) T80A possibly damaging Het
Psg27 A G 7: 18,294,417 (GRCm39) I330T probably benign Het
Ranbp2 T C 10: 58,328,783 (GRCm39) V2894A probably damaging Het
Sgcz A T 8: 38,030,332 (GRCm39) D170E probably benign Het
Snrnp200 C T 2: 127,075,233 (GRCm39) A1573V probably damaging Het
Steap3 C T 1: 120,171,520 (GRCm39) G195D probably damaging Het
Tmem165 T A 5: 76,347,356 (GRCm39) Y5* probably null Het
Tnpo1 C T 13: 99,000,348 (GRCm39) E340K probably damaging Het
Vmn2r67 A T 7: 84,799,118 (GRCm39) C530S probably damaging Het
Wdfy3 T A 5: 101,992,465 (GRCm39) D3389V probably damaging Het
Zfp128 A C 7: 12,624,953 (GRCm39) E440D probably benign 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
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 2016-08-02