Incidental Mutation 'IGL03170:Entpd2'
ID |
411792 |
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 # |
IGL03170
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
25285886-25291333 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 25289493 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Serine
at position 325
(F325S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000028328
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028328]
[ENSMUST00000055921]
[ENSMUST00000071442]
[ENSMUST00000141567]
[ENSMUST00000154809]
|
AlphaFold |
O55026 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000028328
AA Change: F325S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000028328 Gene: ENSMUSG00000015085 AA Change: F325S
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: ENSMUST00000136138
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140590
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148859
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156824
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141106
|
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 |
|
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 |
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cand2 |
A |
G |
6: 115,774,861 (GRCm39) |
D1023G |
probably damaging |
Het |
Ccn1 |
C |
A |
3: 145,355,514 (GRCm39) |
A12S |
probably benign |
Het |
Cyp2c54 |
A |
G |
19: 40,060,809 (GRCm39) |
|
probably null |
Het |
Cyp4f37 |
C |
T |
17: 32,844,093 (GRCm39) |
|
probably benign |
Het |
Flnb |
T |
C |
14: 7,818,261 (GRCm38) |
I37T |
possibly damaging |
Het |
Gtpbp10 |
A |
G |
5: 5,605,355 (GRCm39) |
V116A |
probably benign |
Het |
H2-T9 |
C |
T |
17: 36,439,605 (GRCm39) |
G125E |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 40,587,456 (GRCm39) |
N164I |
unknown |
Het |
Nle1 |
T |
A |
11: 82,795,096 (GRCm39) |
T312S |
probably benign |
Het |
Or10ab5 |
T |
C |
7: 108,245,307 (GRCm39) |
I159V |
probably benign |
Het |
Pim1 |
T |
A |
17: 29,710,152 (GRCm39) |
L12Q |
possibly damaging |
Het |
Plb1 |
G |
T |
5: 32,442,246 (GRCm39) |
C246F |
probably damaging |
Het |
Ppp4r4 |
T |
C |
12: 103,557,033 (GRCm39) |
|
probably benign |
Het |
Prl6a1 |
T |
A |
13: 27,499,406 (GRCm39) |
V63D |
possibly damaging |
Het |
Ptprz1 |
G |
A |
6: 22,959,766 (GRCm39) |
A88T |
probably benign |
Het |
Ranbp3l |
A |
T |
15: 9,029,611 (GRCm39) |
E31V |
probably damaging |
Het |
Relch |
C |
T |
1: 105,663,680 (GRCm39) |
T943I |
probably damaging |
Het |
Rgs9 |
G |
A |
11: 109,150,681 (GRCm39) |
T209I |
probably benign |
Het |
Smg8 |
A |
G |
11: 86,977,434 (GRCm39) |
V49A |
probably damaging |
Het |
Smim6 |
A |
T |
11: 115,804,314 (GRCm39) |
T34S |
possibly damaging |
Het |
Snw1 |
T |
G |
12: 87,519,022 (GRCm39) |
T4P |
probably benign |
Het |
Sod2 |
C |
A |
17: 13,227,257 (GRCm39) |
H70Q |
probably benign |
Het |
Tro |
A |
G |
X: 149,438,556 (GRCm39) |
S34P |
probably benign |
Het |
Tshr |
T |
A |
12: 91,504,643 (GRCm39) |
M527K |
probably damaging |
Het |
Uggt1 |
A |
C |
1: 36,202,342 (GRCm39) |
V1085G |
probably damaging |
Het |
Vmn1r21 |
A |
G |
6: 57,820,847 (GRCm39) |
V199A |
probably damaging |
Het |
Xkr9 |
T |
C |
1: 13,771,036 (GRCm39) |
I184T |
possibly damaging |
Het |
Zfp369 |
T |
C |
13: 65,442,224 (GRCm39) |
S273P |
probably damaging |
Het |
Zpld2 |
C |
T |
4: 133,920,345 (GRCm39) |
V607I |
possibly damaging |
Het |
|
Other mutations in Entpd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01347:Entpd2
|
APN |
2 |
25,288,746 (GRCm39) |
missense |
probably benign |
|
IGL02869:Entpd2
|
APN |
2 |
25,288,120 (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 |
2016-08-02 |