Incidental Mutation 'R5812:Nt5e'
| ID |
447563 |
| 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 # |
R5812 (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 88251108 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 459
(V459A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034992
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034992]
|
| AlphaFold |
Q61503 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000034992
AA Change: V459A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000034992
Gene: ENSMUSG00000032420
AA Change: V459A
| 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: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,882,299 (GRCm39) |
S9P |
probably damaging |
Het |
| Aadacl2fm2 |
T |
A |
3: 59,654,693 (GRCm39) |
Y176N |
probably damaging |
Het |
| Acsl5 |
G |
A |
19: 55,283,268 (GRCm39) |
V615I |
probably benign |
Het |
| Ankk1 |
T |
C |
9: 49,338,153 (GRCm39) |
K47E |
probably benign |
Het |
| Ankrd11 |
A |
T |
8: 123,620,544 (GRCm39) |
|
probably null |
Het |
| Bcl9l |
T |
C |
9: 44,417,941 (GRCm39) |
V593A |
probably benign |
Het |
| Cadps |
T |
C |
14: 12,376,685 (GRCm38) |
I1271V |
probably benign |
Het |
| Ccdc125 |
T |
C |
13: 100,820,812 (GRCm39) |
W152R |
probably damaging |
Het |
| Cep192 |
T |
C |
18: 67,984,808 (GRCm39) |
V1606A |
possibly damaging |
Het |
| Csgalnact1 |
T |
C |
8: 68,854,036 (GRCm39) |
N255S |
probably benign |
Het |
| Cxxc5 |
T |
A |
18: 35,992,109 (GRCm39) |
V170E |
probably damaging |
Het |
| Defb6 |
C |
T |
8: 19,278,110 (GRCm39) |
R61C |
possibly damaging |
Het |
| Dnah10 |
T |
A |
5: 124,824,810 (GRCm39) |
N655K |
probably benign |
Het |
| Fry |
G |
A |
5: 150,323,136 (GRCm39) |
A1096T |
probably damaging |
Het |
| Gli1 |
C |
T |
10: 127,173,284 (GRCm39) |
G125S |
probably damaging |
Het |
| Igkv14-126 |
A |
T |
6: 67,873,424 (GRCm39) |
I51F |
possibly damaging |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Jtb |
T |
C |
3: 90,141,284 (GRCm39) |
S87P |
probably benign |
Het |
| Kdm6b |
A |
T |
11: 69,296,755 (GRCm39) |
I504N |
probably damaging |
Het |
| Lin9 |
T |
A |
1: 180,496,763 (GRCm39) |
L351I |
probably benign |
Het |
| Map2k4 |
A |
G |
11: 65,626,031 (GRCm39) |
I136T |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,468,076 (GRCm39) |
T319A |
probably benign |
Het |
| Nr2e3 |
TCCATCGGAGTGTTCCC |
TC |
9: 59,850,701 (GRCm39) |
|
probably benign |
Het |
| Ogdhl |
A |
G |
14: 32,054,822 (GRCm39) |
K257E |
probably damaging |
Het |
| Or1e16 |
AGCGGTCGTAGGC |
AGC |
11: 73,286,480 (GRCm39) |
|
probably null |
Het |
| Or2g25 |
A |
G |
17: 37,970,630 (GRCm39) |
L198P |
probably damaging |
Het |
| Osmr |
A |
T |
15: 6,866,540 (GRCm39) |
V378D |
probably damaging |
Het |
| Pcdhb18 |
G |
A |
18: 37,623,537 (GRCm39) |
R289Q |
probably benign |
Het |
| Pdzd7 |
G |
T |
19: 45,025,310 (GRCm39) |
T395K |
probably damaging |
Het |
| Rasgef1c |
A |
G |
11: 49,847,970 (GRCm39) |
D35G |
probably benign |
Het |
| Rbm19 |
T |
C |
5: 120,279,642 (GRCm39) |
F770L |
probably damaging |
Het |
| Rit2 |
C |
A |
18: 31,108,514 (GRCm39) |
C157F |
probably damaging |
Het |
| Slc22a22 |
A |
G |
15: 57,119,869 (GRCm39) |
|
probably null |
Het |
| Slc8b1 |
T |
C |
5: 120,651,403 (GRCm39) |
|
probably null |
Het |
| Speer2 |
C |
A |
16: 69,655,783 (GRCm39) |
R14S |
possibly damaging |
Het |
| Tas2r105 |
C |
A |
6: 131,663,836 (GRCm39) |
L197F |
possibly damaging |
Het |
| Tmprss11b |
T |
A |
5: 86,812,957 (GRCm39) |
H113L |
possibly damaging |
Het |
| Ttbk2 |
G |
A |
2: 120,653,040 (GRCm39) |
P64S |
probably damaging |
Het |
| Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
| Vps13c |
T |
A |
9: 67,889,777 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
T |
A |
10: 127,577,429 (GRCm39) |
M1K |
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 |
|
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 |
|
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'- GGACTCAAGGATGAAGCTGC -3'
(R):5'- GAAGAGACACCTGTGCTTACCAG -3'
Sequencing Primer
(F):5'- GCGGGTAGCTACACCATCAC -3'
(R):5'- ACACCTGTGCTTACCAGAGTCATG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation