Incidental Mutation 'IGL00924:Entpd5'
| ID |
28730 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Entpd5
|
| Ensembl Gene |
ENSMUSG00000021236 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 5 |
| Synonyms |
Pcph, NTPDase-5, mNTPase, ER-UDPase, NTPDase5, Cd39l4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00924
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84420649-84455803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 84433828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 147
(V147E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021662]
[ENSMUST00000072061]
[ENSMUST00000110272]
[ENSMUST00000117286]
[ENSMUST00000120942]
[ENSMUST00000122194]
|
| AlphaFold |
Q9WUZ9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021662
AA Change: V147E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236
AA Change: V147E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072061
AA Change: V172E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236
AA Change: V172E
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
27 |
46 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
65 |
451 |
1.9e-77 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110272
AA Change: V147E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236
AA Change: V147E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000117286
AA Change: V147E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000114011
Gene: ENSMUSG00000021236
AA Change: V147E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120942
AA Change: V147E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236
AA Change: V147E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122194
AA Change: V147E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113106
Gene: ENSMUSG00000021236
AA Change: V147E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135061
|
| 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 similar to E-type nucleotidases (NTPases)/ecto-ATPase/apyrases. NTPases, such as CD39, mediate catabolism of extracellular nucleotides. ENTPD5 contains 4 apyrase-conserved regions which is characteristic of NTPases. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null allele develop progressive hepatopathy, hepatocellular tumors, and spermatogenic arrest. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Als2 |
A |
G |
1: 59,255,021 (GRCm39) |
V112A |
probably benign |
Het |
| Atp1a4 |
T |
A |
1: 172,074,339 (GRCm39) |
I305F |
probably damaging |
Het |
| AW209491 |
A |
G |
13: 14,811,660 (GRCm39) |
N171S |
probably damaging |
Het |
| Bank1 |
G |
T |
3: 135,953,395 (GRCm39) |
A120E |
probably damaging |
Het |
| Bdp1 |
T |
A |
13: 100,234,087 (GRCm39) |
E206D |
possibly damaging |
Het |
| Brd1 |
T |
C |
15: 88,613,612 (GRCm39) |
K428E |
possibly damaging |
Het |
| Ccdc42 |
A |
G |
11: 68,485,447 (GRCm39) |
I191V |
probably benign |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cpm |
T |
G |
10: 117,511,971 (GRCm39) |
I305S |
probably damaging |
Het |
| Cracd |
A |
G |
5: 77,006,833 (GRCm39) |
T1065A |
unknown |
Het |
| Dlc1 |
A |
T |
8: 37,405,368 (GRCm39) |
S140R |
probably benign |
Het |
| Dnajc14 |
A |
G |
10: 128,653,188 (GRCm39) |
T674A |
probably benign |
Het |
| Dnajc7 |
A |
G |
11: 100,475,111 (GRCm39) |
I437T |
possibly damaging |
Het |
| Gpr139 |
A |
G |
7: 118,783,510 (GRCm39) |
C30R |
probably benign |
Het |
| Habp4 |
A |
G |
13: 64,321,885 (GRCm39) |
D174G |
probably damaging |
Het |
| Has3 |
T |
C |
8: 107,605,231 (GRCm39) |
F479S |
probably benign |
Het |
| Helb |
T |
A |
10: 119,946,889 (GRCm39) |
K141N |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kdm1b |
G |
A |
13: 47,221,956 (GRCm39) |
R465H |
probably benign |
Het |
| Lrrc57 |
A |
T |
2: 120,436,532 (GRCm39) |
M86K |
possibly damaging |
Het |
| Map7d1 |
A |
G |
4: 126,132,398 (GRCm39) |
V258A |
probably damaging |
Het |
| Mtcl2 |
T |
G |
2: 156,882,625 (GRCm39) |
M476L |
probably damaging |
Het |
| Mybbp1a |
T |
A |
11: 72,334,393 (GRCm39) |
F216Y |
probably damaging |
Het |
| Ncan |
T |
A |
8: 70,561,039 (GRCm39) |
M643L |
possibly damaging |
Het |
| Ngdn |
T |
C |
14: 55,260,626 (GRCm39) |
I278T |
probably damaging |
Het |
| Or4c104 |
T |
C |
2: 88,586,500 (GRCm39) |
D173G |
possibly damaging |
Het |
| Or9a4 |
C |
T |
6: 40,548,388 (GRCm39) |
R23C |
probably benign |
Het |
| P4hb |
G |
T |
11: 120,454,644 (GRCm39) |
Q245K |
probably benign |
Het |
| Pcx |
G |
A |
19: 4,670,965 (GRCm39) |
V1089I |
probably benign |
Het |
| Phc3 |
A |
T |
3: 30,990,624 (GRCm39) |
M498K |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,790,601 (GRCm39) |
L1025* |
probably null |
Het |
| Sdhaf2 |
G |
A |
19: 10,494,380 (GRCm39) |
P110S |
probably damaging |
Het |
| Slc22a20 |
T |
C |
19: 6,020,544 (GRCm39) |
K538E |
probably benign |
Het |
| Spag11b |
T |
A |
8: 19,192,656 (GRCm39) |
V78D |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,880,294 (GRCm39) |
C367R |
probably damaging |
Het |
| Unc5a |
G |
A |
13: 55,152,327 (GRCm39) |
E741K |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,486,891 (GRCm39) |
L668H |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,964,643 (GRCm39) |
T367I |
probably damaging |
Het |
| Wdr62 |
G |
A |
7: 29,942,231 (GRCm39) |
P603S |
probably damaging |
Het |
| Xab2 |
G |
A |
8: 3,661,723 (GRCm39) |
R577W |
probably damaging |
Het |
|
| Other mutations in Entpd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01455:Entpd5
|
APN |
12 |
84,441,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02168:Entpd5
|
APN |
12 |
84,433,752 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02183:Entpd5
|
APN |
12 |
84,427,154 (GRCm39) |
splice site |
probably benign |
|
|
IGL03104:Entpd5
|
APN |
12 |
84,431,022 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03332:Entpd5
|
APN |
12 |
84,429,002 (GRCm39) |
splice site |
probably null |
|
|
aventi
|
UTSW |
12 |
84,429,069 (GRCm39) |
nonsense |
probably null |
|
|
eatsy
|
UTSW |
12 |
84,429,069 (GRCm39) |
nonsense |
probably null |
|
|
magenschonend
|
UTSW |
12 |
84,441,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0024:Entpd5
|
UTSW |
12 |
84,420,507 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0103:Entpd5
|
UTSW |
12 |
84,443,717 (GRCm39) |
nonsense |
probably null |
|
|
R0103:Entpd5
|
UTSW |
12 |
84,443,717 (GRCm39) |
nonsense |
probably null |
|
|
R0644:Entpd5
|
UTSW |
12 |
84,432,915 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1533:Entpd5
|
UTSW |
12 |
84,441,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1536:Entpd5
|
UTSW |
12 |
84,429,069 (GRCm39) |
nonsense |
probably null |
|
|
R1740:Entpd5
|
UTSW |
12 |
84,443,545 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1768:Entpd5
|
UTSW |
12 |
84,432,985 (GRCm39) |
missense |
probably benign |
|
|
R2049:Entpd5
|
UTSW |
12 |
84,443,632 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5128:Entpd5
|
UTSW |
12 |
84,441,464 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6562:Entpd5
|
UTSW |
12 |
84,432,974 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6907:Entpd5
|
UTSW |
12 |
84,424,127 (GRCm39) |
missense |
probably benign |
0.23 |
|
R7209:Entpd5
|
UTSW |
12 |
84,443,702 (GRCm39) |
missense |
probably benign |
|
|
R7605:Entpd5
|
UTSW |
12 |
84,443,482 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8700:Entpd5
|
UTSW |
12 |
84,443,508 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0057:Entpd5
|
UTSW |
12 |
84,430,994 (GRCm39) |
splice site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation