Incidental Mutation 'R9191:Nt5e'
| ID |
705613 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nt5e
|
| Ensembl Gene |
ENSMUSG00000032420 |
| Gene Name |
5' nucleotidase, ecto |
| Synonyms |
ecto-5'-nucleotidase, 2210401F01Rik, CD73, Nt5 |
| MMRRC Submission |
068952-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9191 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
88209662-88254142 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88246874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 370
(M370T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034992]
|
| AlphaFold |
Q61503 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034992
AA Change: M370T
PolyPhen 2
Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: M370T
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
100% (36/36) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900026A02Rik |
G |
A |
5: 113,330,564 (GRCm39) |
R1217W |
probably benign |
Het |
| Acta2 |
T |
A |
19: 34,222,480 (GRCm39) |
I214F |
possibly damaging |
Het |
| Adgra3 |
A |
C |
5: 50,145,006 (GRCm39) |
I529S |
possibly damaging |
Het |
| Aknad1 |
C |
T |
3: 108,664,093 (GRCm39) |
P352L |
probably damaging |
Het |
| Arhgap26 |
G |
A |
18: 39,439,893 (GRCm39) |
R277Q |
|
Het |
| Atm |
T |
C |
9: 53,438,590 (GRCm39) |
T127A |
probably benign |
Het |
| Bmp3 |
A |
T |
5: 99,019,946 (GRCm39) |
E123V |
probably damaging |
Het |
| Brap |
A |
G |
5: 121,823,350 (GRCm39) |
Q524R |
probably benign |
Het |
| Ccdc34 |
T |
A |
2: 109,852,301 (GRCm39) |
M141K |
possibly damaging |
Het |
| Crybb1 |
T |
A |
5: 112,417,199 (GRCm39) |
Y196N |
probably damaging |
Het |
| Dysf |
G |
A |
6: 84,045,048 (GRCm39) |
R293H |
probably benign |
Het |
| Ercc8 |
T |
A |
13: 108,305,914 (GRCm39) |
D96E |
probably benign |
Het |
| Intu |
T |
A |
3: 40,646,941 (GRCm39) |
L605M |
probably damaging |
Het |
| Kif21b |
A |
T |
1: 136,100,559 (GRCm39) |
K1547* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,220,830 (GRCm39) |
V693D |
probably benign |
Het |
| Msantd5f6 |
A |
T |
4: 73,319,670 (GRCm39) |
S269T |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,556,106 (GRCm39) |
K3396E |
unknown |
Het |
| Myo3a |
A |
T |
2: 22,469,841 (GRCm39) |
R1475S |
probably benign |
Het |
| Neto1 |
A |
G |
18: 86,516,781 (GRCm39) |
K366R |
probably damaging |
Het |
| Nphp4 |
A |
T |
4: 152,640,687 (GRCm39) |
D1018V |
probably damaging |
Het |
| Pappa2 |
A |
G |
1: 158,684,988 (GRCm39) |
V717A |
probably damaging |
Het |
| Pcdh15 |
T |
C |
10: 74,161,981 (GRCm39) |
I512T |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,932 (GRCm39) |
Q313R |
probably benign |
Het |
| Prpf40b |
A |
T |
15: 99,202,064 (GRCm39) |
Q54L |
probably null |
Het |
| Rasgrf1 |
G |
A |
9: 89,883,923 (GRCm39) |
V943M |
probably damaging |
Het |
| Serbp1 |
A |
G |
6: 67,249,838 (GRCm39) |
Y244C |
probably benign |
Het |
| Slc23a4 |
A |
G |
6: 34,925,396 (GRCm39) |
S219P |
|
Het |
| Slc27a5 |
T |
G |
7: 12,725,247 (GRCm39) |
H400P |
probably damaging |
Het |
| Slc9c1 |
C |
A |
16: 45,420,144 (GRCm39) |
D1066E |
possibly damaging |
Het |
| Tap1 |
T |
C |
17: 34,413,956 (GRCm39) |
|
probably null |
Het |
| Tmem198 |
G |
A |
1: 75,456,426 (GRCm39) |
A27T |
unknown |
Het |
| Tpx2 |
A |
G |
2: 152,727,124 (GRCm39) |
T464A |
possibly damaging |
Het |
| Trav7-5 |
C |
G |
14: 53,768,615 (GRCm39) |
A61G |
probably benign |
Het |
| Trh |
G |
A |
6: 92,219,602 (GRCm39) |
T238I |
possibly damaging |
Het |
| Zbtb10 |
T |
C |
3: 9,330,295 (GRCm39) |
V551A |
probably damaging |
Het |
| Zfp668 |
T |
C |
7: 127,465,658 (GRCm39) |
T509A |
probably benign |
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 |
|
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 |
|
R9467:Nt5e
|
UTSW |
9 |
88,249,416 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCTGGCAAAACTCCATTTCTC -3'
(R):5'- ACTCTGCTAAGTGTTTTGGGCC -3'
Sequencing Primer
(F):5'- ACTAGGAGATCTGCCCGGATTAC -3'
(R):5'- CTAAGTGTTTTGGGCCTCCTTGC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation