Incidental Mutation 'R2361:Nt5e'
| ID |
247151 |
| 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 # |
R2361 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
88209662-88254142 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88252290 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 551
(S551P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034992]
|
| AlphaFold |
Q61503 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034992
AA Change: S551P
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: S551P
| 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: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930503L19Rik |
G |
T |
18: 70,602,646 (GRCm39) |
Q56K |
probably damaging |
Het |
| Acrv1 |
A |
G |
9: 36,609,846 (GRCm39) |
N239S |
possibly damaging |
Het |
| Acss2 |
A |
G |
2: 155,400,589 (GRCm39) |
K543E |
probably damaging |
Het |
| Agbl3 |
A |
G |
6: 34,809,440 (GRCm39) |
D689G |
possibly damaging |
Het |
| Ass1 |
T |
C |
2: 31,410,394 (GRCm39) |
Y402H |
probably benign |
Het |
| Atr |
A |
G |
9: 95,753,210 (GRCm39) |
H683R |
probably benign |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Cacna1h |
C |
A |
17: 25,602,986 (GRCm39) |
V1445F |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Lce1k |
T |
A |
3: 92,713,891 (GRCm39) |
S98C |
unknown |
Het |
| Lrrc9 |
T |
C |
12: 72,510,244 (GRCm39) |
C448R |
possibly damaging |
Het |
| Map3k13 |
A |
G |
16: 21,725,286 (GRCm39) |
T420A |
probably benign |
Het |
| Megf8 |
A |
G |
7: 25,048,379 (GRCm39) |
D1684G |
possibly damaging |
Het |
| Nacad |
T |
C |
11: 6,550,821 (GRCm39) |
H790R |
probably benign |
Het |
| Nsd1 |
A |
G |
13: 55,361,524 (GRCm39) |
D164G |
possibly damaging |
Het |
| Ptgs2 |
T |
C |
1: 149,979,726 (GRCm39) |
V277A |
probably benign |
Het |
| Slc34a2 |
T |
A |
5: 53,225,487 (GRCm39) |
F411L |
probably benign |
Het |
| Slc4a1 |
T |
C |
11: 102,247,656 (GRCm39) |
Y409C |
probably damaging |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAACATGAAAGTGCAATC -3'
(R):5'- GAGTGCTGTTACAAAGCCAGG -3'
Sequencing Primer
(F):5'- ACCAGCATTTTTGTCTTCTGAGATG -3'
(R):5'- TGTTACAAAGCCAGGTCTCCAGAG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation