Incidental Mutation 'R5239:Entpd2'
| ID |
400565 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entpd2
|
| Ensembl Gene |
ENSMUSG00000015085 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 2 |
| Synonyms |
NTPDase2, Cd39l1 |
| MMRRC Submission |
042810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R5239 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25285886-25291333 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 25290830 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 445
(T445A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028328]
[ENSMUST00000055921]
[ENSMUST00000071442]
[ENSMUST00000154809]
[ENSMUST00000141567]
|
| AlphaFold |
O55026 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028328
AA Change: T445A
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085
AA Change: T445A
| 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: ENSMUST00000141106
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144413
|
| 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 |
0.5133 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
| Validation Efficiency |
94% (60/64) |
| 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 |
|---|
| 4930568D16Rik |
T |
C |
2: 35,244,848 (GRCm39) |
N168S |
probably benign |
Het |
| Adam3 |
T |
A |
8: 25,184,207 (GRCm39) |
T598S |
possibly damaging |
Het |
| Ago1 |
G |
T |
4: 126,335,008 (GRCm39) |
H405N |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,234,781 (GRCm39) |
|
probably null |
Het |
| Baz1a |
A |
G |
12: 54,945,129 (GRCm39) |
S1409P |
probably damaging |
Het |
| Brinp2 |
T |
C |
1: 158,078,908 (GRCm39) |
E305G |
probably benign |
Het |
| Bub1 |
T |
A |
2: 127,663,616 (GRCm39) |
R262W |
probably damaging |
Het |
| Cish |
T |
A |
9: 107,177,111 (GRCm39) |
|
probably null |
Het |
| Clip4 |
T |
A |
17: 72,106,072 (GRCm39) |
I85K |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,953,532 (GRCm39) |
C187* |
probably null |
Het |
| Ddx51 |
C |
A |
5: 110,801,514 (GRCm39) |
T54K |
probably benign |
Het |
| Drc1 |
A |
T |
5: 30,520,467 (GRCm39) |
T603S |
probably benign |
Het |
| Eif3l |
T |
A |
15: 78,973,995 (GRCm39) |
M470K |
possibly damaging |
Het |
| Epha1 |
C |
A |
6: 42,341,944 (GRCm39) |
V369L |
possibly damaging |
Het |
| Galnt9 |
T |
A |
5: 110,692,635 (GRCm39) |
L23H |
probably damaging |
Het |
| Gm1110 |
A |
G |
9: 26,804,866 (GRCm39) |
F399S |
probably benign |
Het |
| Gm43972 |
G |
A |
5: 25,866,119 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6489 |
T |
A |
1: 31,326,351 (GRCm39) |
|
noncoding transcript |
Het |
| Grik5 |
A |
T |
7: 24,764,895 (GRCm39) |
M82K |
probably damaging |
Het |
| Hibch |
T |
C |
1: 52,904,767 (GRCm39) |
Y121H |
probably damaging |
Het |
| Hyou1 |
T |
A |
9: 44,296,560 (GRCm39) |
I495N |
possibly damaging |
Het |
| Il1rl2 |
T |
C |
1: 40,404,255 (GRCm39) |
S459P |
probably benign |
Het |
| Kel |
A |
T |
6: 41,665,048 (GRCm39) |
L254* |
probably null |
Het |
| Lasp1 |
A |
G |
11: 97,690,686 (GRCm39) |
K23E |
probably damaging |
Het |
| Lemd2 |
C |
A |
17: 27,422,773 (GRCm39) |
R207L |
possibly damaging |
Het |
| Myh1 |
A |
T |
11: 67,106,051 (GRCm39) |
Q1222L |
probably benign |
Het |
| Myh2 |
G |
A |
11: 67,083,269 (GRCm39) |
V1411I |
probably benign |
Het |
| Myo1f |
T |
C |
17: 33,820,709 (GRCm39) |
F851L |
probably benign |
Het |
| Myom3 |
G |
A |
4: 135,528,303 (GRCm39) |
|
probably benign |
Het |
| Nbas |
C |
A |
12: 13,491,519 (GRCm39) |
L1464I |
probably benign |
Het |
| Nr2e3 |
G |
T |
9: 59,857,059 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
T |
C |
17: 91,011,537 (GRCm39) |
D364G |
probably damaging |
Het |
| Or2y1 |
A |
G |
11: 49,385,555 (GRCm39) |
H65R |
possibly damaging |
Het |
| Or5p68 |
T |
A |
7: 107,945,853 (GRCm39) |
T112S |
probably benign |
Het |
| Or8g54 |
T |
A |
9: 39,707,492 (GRCm39) |
S274T |
probably damaging |
Het |
| Or9g4b |
T |
G |
2: 85,616,002 (GRCm39) |
I49S |
probably damaging |
Het |
| Otog |
T |
A |
7: 45,936,859 (GRCm39) |
S1523T |
probably benign |
Het |
| Pcnx2 |
A |
T |
8: 126,587,821 (GRCm39) |
|
probably null |
Het |
| Pkdcc |
C |
A |
17: 83,523,413 (GRCm39) |
H173Q |
probably damaging |
Het |
| Pkn1 |
A |
G |
8: 84,410,811 (GRCm39) |
L267P |
probably damaging |
Het |
| Polr1a |
A |
G |
6: 71,890,021 (GRCm39) |
H80R |
probably damaging |
Het |
| Pwwp3a |
C |
T |
10: 80,064,255 (GRCm39) |
R14* |
probably null |
Het |
| Rag1 |
G |
T |
2: 101,473,300 (GRCm39) |
A614E |
possibly damaging |
Het |
| Ryr1 |
T |
C |
7: 28,735,553 (GRCm39) |
D4075G |
probably damaging |
Het |
| Sdk2 |
C |
A |
11: 113,758,859 (GRCm39) |
R455L |
probably damaging |
Het |
| Smoc2 |
A |
G |
17: 14,589,227 (GRCm39) |
N232S |
probably benign |
Het |
| Snd1 |
T |
C |
6: 28,545,524 (GRCm39) |
L360P |
probably damaging |
Het |
| Tmem26 |
T |
A |
10: 68,587,096 (GRCm39) |
F181L |
probably damaging |
Het |
| Tnrc6a |
A |
G |
7: 122,785,842 (GRCm39) |
M1512V |
probably benign |
Het |
| Tsc22d1 |
T |
A |
14: 76,655,852 (GRCm39) |
I20N |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r122 |
T |
C |
7: 20,868,023 (GRCm39) |
T11A |
possibly damaging |
Het |
| Vpreb1a |
A |
T |
16: 16,686,592 (GRCm39) |
Y99* |
probably null |
Het |
| Wnt9b |
A |
T |
11: 103,622,054 (GRCm39) |
|
probably null |
Het |
| Zfp143 |
A |
G |
7: 109,693,559 (GRCm39) |
E604G |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GCTATTGAGCCGCGGTTATC -3'
(R):5'- TGCTTCAGGGTCAGAGATGC -3'
Sequencing Primer
(F):5'- TTATCGCTTCGACGAGCG -3'
(R):5'- TCAGAGATGCCCTCGGGAAG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation