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)
|
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
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 |
- 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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |