Incidental Mutation 'R6120:Entpd2'
ID |
485693 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Entpd2
|
Ensembl Gene |
ENSMUSG00000015085 |
Gene Name |
ectonucleoside triphosphate diphosphohydrolase 2 |
Synonyms |
NTPDase2, Cd39l1 |
MMRRC Submission |
044268-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.097)
|
Stock # |
R6120 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
25285886-25291333 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 25289478 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 320
(I320N)
|
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: I320N
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000028328 Gene: ENSMUSG00000015085 AA Change: I320N
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: ENSMUST00000156824
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144413
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141106
|
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.6%
|
Validation Efficiency |
98% (55/56) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
T |
A |
18: 6,638,795 (GRCm39) |
V398E |
possibly damaging |
Het |
Ankef1 |
A |
G |
2: 136,392,296 (GRCm39) |
N495S |
probably benign |
Het |
Bpifb3 |
G |
T |
2: 153,773,363 (GRCm39) |
V428L |
probably benign |
Het |
Btd |
G |
A |
14: 31,363,065 (GRCm39) |
|
probably benign |
Het |
Ccdc178 |
A |
G |
18: 22,230,785 (GRCm39) |
L362S |
probably benign |
Het |
Ccdc33 |
G |
A |
9: 57,993,883 (GRCm39) |
P88S |
probably damaging |
Het |
Cdk14 |
A |
T |
5: 4,944,029 (GRCm39) |
D385E |
probably damaging |
Het |
Chrna4 |
A |
G |
2: 180,666,599 (GRCm39) |
L613P |
probably damaging |
Het |
Cnot3 |
T |
A |
7: 3,648,335 (GRCm39) |
|
probably null |
Het |
Csf1 |
T |
A |
3: 107,661,170 (GRCm39) |
I116L |
probably damaging |
Het |
Csrp2 |
G |
T |
10: 110,775,140 (GRCm39) |
A192S |
probably benign |
Het |
Dnah9 |
T |
C |
11: 66,038,225 (GRCm39) |
T104A |
probably benign |
Het |
Eml1 |
C |
T |
12: 108,493,983 (GRCm39) |
P593S |
probably damaging |
Het |
Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,838,244 (GRCm39) |
T2667A |
probably benign |
Het |
Fes |
T |
C |
7: 80,030,615 (GRCm39) |
D558G |
probably damaging |
Het |
Fgfr2 |
G |
T |
7: 129,830,420 (GRCm39) |
T186K |
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,400,826 (GRCm39) |
E1075G |
probably benign |
Het |
Gbf1 |
A |
G |
19: 46,267,760 (GRCm39) |
I1203V |
possibly damaging |
Het |
Gja1 |
T |
A |
10: 56,264,601 (GRCm39) |
M320K |
probably benign |
Het |
Gm5431 |
A |
G |
11: 48,785,608 (GRCm39) |
Y256H |
probably benign |
Het |
Gpr20 |
C |
T |
15: 73,567,853 (GRCm39) |
V179M |
probably damaging |
Het |
Greb1 |
T |
G |
12: 16,758,622 (GRCm39) |
D698A |
probably damaging |
Het |
Hook2 |
A |
G |
8: 85,724,754 (GRCm39) |
E500G |
probably damaging |
Het |
Kif13b |
A |
T |
14: 64,989,007 (GRCm39) |
N796I |
probably damaging |
Het |
Kif1a |
C |
T |
1: 92,952,296 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
C |
17: 68,087,612 (GRCm39) |
|
probably null |
Het |
Mfsd1 |
C |
T |
3: 67,501,718 (GRCm39) |
Q246* |
probably null |
Het |
Mkrn3 |
A |
G |
7: 62,069,282 (GRCm39) |
S170P |
probably benign |
Het |
Ms4a6b |
A |
G |
19: 11,499,059 (GRCm39) |
M58V |
probably benign |
Het |
Muc4 |
T |
C |
16: 32,577,169 (GRCm39) |
V2223A |
unknown |
Het |
Mycbp2 |
A |
T |
14: 103,513,323 (GRCm39) |
V811D |
probably benign |
Het |
Or5p59 |
A |
T |
7: 107,703,340 (GRCm39) |
N275Y |
probably damaging |
Het |
Or6c215 |
G |
A |
10: 129,637,689 (GRCm39) |
A235V |
probably damaging |
Het |
Or6c215 |
C |
A |
10: 129,637,690 (GRCm39) |
A235S |
probably damaging |
Het |
Or9g4b |
T |
C |
2: 85,616,685 (GRCm39) |
F277L |
probably damaging |
Het |
Pcsk2 |
A |
G |
2: 143,643,031 (GRCm39) |
E436G |
probably damaging |
Het |
Pet100 |
T |
G |
8: 3,671,764 (GRCm39) |
|
probably null |
Het |
Pira2 |
A |
G |
7: 3,844,553 (GRCm39) |
Y493H |
probably damaging |
Het |
Prkdc |
C |
A |
16: 15,557,335 (GRCm39) |
R2213S |
probably benign |
Het |
Prmt2 |
A |
G |
10: 76,045,280 (GRCm39) |
I342T |
possibly damaging |
Het |
Psmc6 |
A |
G |
14: 45,586,130 (GRCm39) |
E381G |
possibly damaging |
Het |
Rrm1 |
G |
A |
7: 102,110,063 (GRCm39) |
|
probably null |
Het |
Sema3c |
A |
G |
5: 17,932,630 (GRCm39) |
D711G |
probably benign |
Het |
Sgcb |
T |
C |
5: 73,798,153 (GRCm39) |
E103G |
possibly damaging |
Het |
Sh3pxd2a |
A |
G |
19: 47,255,848 (GRCm39) |
S957P |
probably damaging |
Het |
Slc26a2 |
A |
G |
18: 61,332,489 (GRCm39) |
V314A |
possibly damaging |
Het |
Smarca5 |
G |
T |
8: 81,438,372 (GRCm39) |
H655N |
probably damaging |
Het |
Sspo |
T |
A |
6: 48,442,510 (GRCm39) |
S2002T |
probably damaging |
Het |
Sync |
T |
C |
4: 129,187,544 (GRCm39) |
L192P |
probably damaging |
Het |
Ush2a |
T |
C |
1: 188,090,800 (GRCm39) |
M477T |
probably benign |
Het |
Vav3 |
C |
T |
3: 109,571,681 (GRCm39) |
T201M |
probably damaging |
Het |
Vcam1 |
A |
G |
3: 115,918,049 (GRCm39) |
V304A |
probably damaging |
Het |
Vmn2r115 |
T |
A |
17: 23,565,003 (GRCm39) |
W297R |
probably damaging |
Het |
Vmn2r120 |
T |
A |
17: 57,832,973 (GRCm39) |
M69L |
probably benign |
Het |
Wdr11 |
A |
G |
7: 129,226,515 (GRCm39) |
D771G |
probably 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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGGGGAACTCTATCTGTACTC -3'
(R):5'- CCATCACTGTCTTCAGGAAGTC -3'
Sequencing Primer
(F):5'- GGAACTCTATCTGTACTCTCACTAAC -3'
(R):5'- CACTGTCTTCAGGAAGTCTACAG -3'
|
Posted On |
2017-08-16 |