Incidental Mutation 'IGL01347:Entpd2'
ID |
75126 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Entpd2
|
Ensembl Gene |
ENSMUSG00000015085 |
Gene Name |
ectonucleoside triphosphate diphosphohydrolase 2 |
Synonyms |
NTPDase2, Cd39l1 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
IGL01347
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25285886-25291333 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 25288746 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 250
(Q250R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028328]
[ENSMUST00000055921]
[ENSMUST00000071442]
[ENSMUST00000154809]
[ENSMUST00000141567]
|
AlphaFold |
O55026 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028328
AA Change: Q250R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000028328 Gene: ENSMUSG00000015085 AA Change: Q250R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:GDA1_CD39
|
32 |
459 |
9.7e-104 |
PFAM |
low complexity region
|
465 |
483 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000055921
|
SMART Domains |
Protein: ENSMUSP00000049602 Gene: ENSMUSG00000015094
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
341 |
9.1e-234 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000071442
|
SMART Domains |
Protein: ENSMUSP00000071387 Gene: ENSMUSG00000015094
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
332 |
7.2e-217 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124277
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132287
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140590
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141106
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156824
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148859
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154809
|
SMART Domains |
Protein: ENSMUSP00000123386 Gene: ENSMUSG00000015094
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
142 |
1.8e-88 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141567
|
SMART Domains |
Protein: ENSMUSP00000116275 Gene: ENSMUSG00000015094
Domain | Start | End | E-Value | Type |
Pfam:NPDC1
|
1 |
231 |
7.8e-141 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the type 2 enzyme of the ecto-nucleoside triphosphate diphosphohydrolase family (E-NTPDase). E-NTPDases are a family of ecto-nucleosidases that hydrolyze 5'-triphosphates. This ecto-ATPase is an integral membrane protein. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a null allele display smaller circumvallate papilla size and reduced neural responses to taste stimuli. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aoc1l2 |
A |
T |
6: 48,909,477 (GRCm39) |
Y574F |
probably benign |
Het |
Apc |
C |
T |
18: 34,450,723 (GRCm39) |
P2506S |
probably damaging |
Het |
Bdp1 |
T |
A |
13: 100,206,711 (GRCm39) |
K610N |
possibly damaging |
Het |
Bri3bp |
T |
G |
5: 125,531,581 (GRCm39) |
C176G |
probably damaging |
Het |
Carnmt1 |
A |
G |
19: 18,668,818 (GRCm39) |
I248V |
probably benign |
Het |
Ccdc88b |
A |
G |
19: 6,822,454 (GRCm39) |
L1475P |
probably damaging |
Het |
Cfap100 |
C |
T |
6: 90,383,103 (GRCm39) |
V511M |
possibly damaging |
Het |
Chchd3 |
T |
C |
6: 32,780,838 (GRCm39) |
N78S |
probably benign |
Het |
Cnnm4 |
G |
A |
1: 36,537,115 (GRCm39) |
E480K |
possibly damaging |
Het |
Cyp2d34 |
T |
A |
15: 82,500,978 (GRCm39) |
I385F |
possibly damaging |
Het |
D930048N14Rik |
T |
A |
11: 51,545,615 (GRCm39) |
|
probably benign |
Het |
Dgkg |
A |
T |
16: 22,419,340 (GRCm39) |
D53E |
probably benign |
Het |
Dlx3 |
T |
A |
11: 95,011,359 (GRCm39) |
L71H |
probably damaging |
Het |
Egln2 |
A |
C |
7: 26,859,717 (GRCm39) |
V332G |
probably null |
Het |
Epyc |
A |
G |
10: 97,510,593 (GRCm39) |
D132G |
probably damaging |
Het |
Fxr2 |
A |
G |
11: 69,543,114 (GRCm39) |
D637G |
probably benign |
Het |
Gapvd1 |
A |
G |
2: 34,596,708 (GRCm39) |
|
probably null |
Het |
Gbp11 |
G |
A |
5: 105,479,194 (GRCm39) |
|
probably benign |
Het |
Gm17175 |
A |
T |
14: 51,808,307 (GRCm39) |
C162S |
probably damaging |
Het |
Gm5499 |
C |
T |
17: 87,386,339 (GRCm39) |
|
noncoding transcript |
Het |
Gps1 |
T |
C |
11: 120,679,086 (GRCm39) |
V378A |
probably benign |
Het |
Grik1 |
C |
T |
16: 87,754,481 (GRCm39) |
R368Q |
probably benign |
Het |
Gsap |
A |
G |
5: 21,431,318 (GRCm39) |
E214G |
probably benign |
Het |
H2bc13 |
A |
G |
13: 21,900,064 (GRCm39) |
Y84H |
probably damaging |
Het |
Jdp2 |
T |
C |
12: 85,655,020 (GRCm39) |
S28P |
probably benign |
Het |
Kif26b |
T |
C |
1: 178,698,240 (GRCm39) |
F577S |
probably damaging |
Het |
Kl |
G |
A |
5: 150,904,130 (GRCm39) |
G294D |
probably damaging |
Het |
Lgsn |
T |
A |
1: 31,243,041 (GRCm39) |
D374E |
probably damaging |
Het |
Lman1 |
T |
C |
18: 66,124,681 (GRCm39) |
I353V |
probably damaging |
Het |
Lmna |
T |
C |
3: 88,392,270 (GRCm39) |
H374R |
probably benign |
Het |
Lrrc57 |
A |
G |
2: 120,439,286 (GRCm39) |
S31P |
probably benign |
Het |
Lum |
T |
A |
10: 97,404,547 (GRCm39) |
N147K |
probably damaging |
Het |
Or6n2 |
T |
C |
1: 173,897,632 (GRCm39) |
I256T |
probably benign |
Het |
Or7a41 |
A |
G |
10: 78,871,445 (GRCm39) |
T272A |
probably benign |
Het |
P4ha3 |
C |
A |
7: 99,955,140 (GRCm39) |
L332I |
probably damaging |
Het |
Pelp1 |
A |
G |
11: 70,286,505 (GRCm39) |
I541T |
probably damaging |
Het |
Pja2 |
A |
C |
17: 64,620,023 (GRCm39) |
S2A |
probably benign |
Het |
Rhbdl3 |
T |
C |
11: 80,244,268 (GRCm39) |
L325P |
probably damaging |
Het |
Robo2 |
T |
C |
16: 74,149,744 (GRCm39) |
D28G |
probably damaging |
Het |
Rpa1 |
A |
G |
11: 75,198,111 (GRCm39) |
Y470H |
probably damaging |
Het |
Rtn3 |
T |
C |
19: 7,434,645 (GRCm39) |
N430S |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,414,538 (GRCm39) |
I62L |
probably benign |
Het |
Scn5a |
T |
A |
9: 119,391,507 (GRCm39) |
K62* |
probably null |
Het |
Sec23ip |
T |
C |
7: 128,364,129 (GRCm39) |
V469A |
probably benign |
Het |
Shank1 |
A |
G |
7: 43,991,544 (GRCm39) |
T663A |
unknown |
Het |
Slco1a7 |
A |
T |
6: 141,700,192 (GRCm39) |
Y113* |
probably null |
Het |
Stab2 |
G |
T |
10: 86,737,567 (GRCm39) |
|
probably null |
Het |
Tmcc3 |
T |
C |
10: 94,418,147 (GRCm39) |
L305P |
probably damaging |
Het |
Tmem145 |
A |
G |
7: 25,014,260 (GRCm39) |
N458S |
probably damaging |
Het |
Tpr |
G |
A |
1: 150,302,738 (GRCm39) |
R1412Q |
probably damaging |
Het |
Wdr1 |
A |
T |
5: 38,703,058 (GRCm39) |
F173I |
possibly damaging |
Het |
Wdr17 |
C |
T |
8: 55,104,380 (GRCm39) |
V898I |
probably benign |
Het |
Wdr64 |
A |
T |
1: 175,547,899 (GRCm39) |
L145F |
probably benign |
Het |
Wnt10b |
A |
G |
15: 98,674,826 (GRCm39) |
|
probably benign |
Het |
Zfyve26 |
A |
T |
12: 79,298,957 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Entpd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02869:Entpd2
|
APN |
2 |
25,288,120 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03170:Entpd2
|
APN |
2 |
25,289,493 (GRCm39) |
missense |
probably damaging |
1.00 |
R1280:Entpd2
|
UTSW |
2 |
25,289,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R2258:Entpd2
|
UTSW |
2 |
25,288,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R2260:Entpd2
|
UTSW |
2 |
25,288,099 (GRCm39) |
missense |
probably damaging |
1.00 |
R2420:Entpd2
|
UTSW |
2 |
25,289,295 (GRCm39) |
missense |
probably benign |
|
R2566:Entpd2
|
UTSW |
2 |
25,289,295 (GRCm39) |
missense |
probably benign |
0.16 |
R4802:Entpd2
|
UTSW |
2 |
25,289,776 (GRCm39) |
splice site |
probably null |
|
R4938:Entpd2
|
UTSW |
2 |
25,289,429 (GRCm39) |
missense |
probably benign |
0.25 |
R5239:Entpd2
|
UTSW |
2 |
25,290,830 (GRCm39) |
missense |
probably damaging |
0.96 |
R5374:Entpd2
|
UTSW |
2 |
25,289,738 (GRCm39) |
missense |
probably damaging |
1.00 |
R5739:Entpd2
|
UTSW |
2 |
25,289,504 (GRCm39) |
missense |
possibly damaging |
0.90 |
R5752:Entpd2
|
UTSW |
2 |
25,289,781 (GRCm39) |
unclassified |
probably benign |
|
R5881:Entpd2
|
UTSW |
2 |
25,290,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R6016:Entpd2
|
UTSW |
2 |
25,288,568 (GRCm39) |
missense |
probably damaging |
0.99 |
R6120:Entpd2
|
UTSW |
2 |
25,289,478 (GRCm39) |
missense |
probably benign |
0.03 |
R6370:Entpd2
|
UTSW |
2 |
25,287,429 (GRCm39) |
missense |
probably damaging |
1.00 |
R7301:Entpd2
|
UTSW |
2 |
25,290,921 (GRCm39) |
missense |
possibly damaging |
0.88 |
R8059:Entpd2
|
UTSW |
2 |
25,288,096 (GRCm39) |
missense |
probably damaging |
0.98 |
R8257:Entpd2
|
UTSW |
2 |
25,288,133 (GRCm39) |
missense |
probably damaging |
1.00 |
R8868:Entpd2
|
UTSW |
2 |
25,289,725 (GRCm39) |
missense |
probably benign |
0.01 |
R9259:Entpd2
|
UTSW |
2 |
25,288,614 (GRCm39) |
missense |
probably damaging |
1.00 |
R9280:Entpd2
|
UTSW |
2 |
25,289,511 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9660:Entpd2
|
UTSW |
2 |
25,288,153 (GRCm39) |
missense |
probably damaging |
1.00 |
RF007:Entpd2
|
UTSW |
2 |
25,290,907 (GRCm39) |
frame shift |
probably null |
|
RF017:Entpd2
|
UTSW |
2 |
25,290,907 (GRCm39) |
frame shift |
probably null |
|
RF018:Entpd2
|
UTSW |
2 |
25,290,907 (GRCm39) |
frame shift |
probably null |
|
RF023:Entpd2
|
UTSW |
2 |
25,290,907 (GRCm39) |
frame shift |
probably null |
|
RF024:Entpd2
|
UTSW |
2 |
25,290,907 (GRCm39) |
frame shift |
probably null |
|
X0009:Entpd2
|
UTSW |
2 |
25,288,691 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-10-07 |