Incidental Mutation 'IGL01794:Nt5e'
| ID |
155296 |
| 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)
|
| Stock # |
IGL01794
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
88209662-88254142 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88249351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 428
(L428F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034992]
|
| AlphaFold |
Q61503 |
| 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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
C |
T |
6: 91,895,093 (GRCm39) |
R263* |
probably null |
Het |
| Appl2 |
A |
G |
10: 83,450,158 (GRCm39) |
V238A |
probably benign |
Het |
| Bcl2l11 |
T |
A |
2: 127,970,568 (GRCm39) |
S6T |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,944,047 (GRCm39) |
|
probably null |
Het |
| Catsper3 |
T |
C |
13: 55,946,719 (GRCm39) |
S139P |
possibly damaging |
Het |
| Cdh3 |
A |
G |
8: 107,263,758 (GRCm39) |
N192S |
possibly damaging |
Het |
| Dsc1 |
A |
T |
18: 20,243,240 (GRCm39) |
I71N |
probably damaging |
Het |
| Fbxw2 |
A |
G |
2: 34,701,131 (GRCm39) |
|
probably benign |
Het |
| Gad1 |
G |
T |
2: 70,427,512 (GRCm39) |
V473L |
probably benign |
Het |
| Golm2 |
T |
A |
2: 121,742,407 (GRCm39) |
N206K |
probably benign |
Het |
| Gtpbp1 |
C |
T |
15: 79,600,447 (GRCm39) |
T460I |
probably damaging |
Het |
| Krt16 |
G |
A |
11: 100,138,731 (GRCm39) |
T185I |
probably benign |
Het |
| Mapk1ip1 |
C |
T |
7: 138,438,426 (GRCm39) |
M1I |
probably null |
Het |
| Or5p54 |
A |
G |
7: 107,554,502 (GRCm39) |
Y218C |
probably damaging |
Het |
| Pah |
G |
T |
10: 87,414,784 (GRCm39) |
V379F |
possibly damaging |
Het |
| Scn7a |
T |
C |
2: 66,505,853 (GRCm39) |
T1679A |
probably benign |
Het |
| Sdccag8 |
T |
A |
1: 176,672,873 (GRCm39) |
H293Q |
possibly damaging |
Het |
| Spmip4 |
T |
C |
6: 50,554,826 (GRCm39) |
I268M |
probably damaging |
Het |
| Suco |
A |
G |
1: 161,655,294 (GRCm39) |
M1066T |
probably benign |
Het |
| Trim9 |
A |
G |
12: 70,328,654 (GRCm39) |
Y369H |
probably damaging |
Het |
| Usp34 |
G |
A |
11: 23,386,020 (GRCm39) |
R2149H |
probably damaging |
Het |
|
| Other mutations in Nt5e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2014-02-04 |
Incidental Mutation