Incidental Mutation 'IGL01455:Entpd5'
| ID |
84737 |
| 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 # |
IGL01455
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
84420649-84455803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84441451 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 106
(I106V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071939
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021662]
[ENSMUST00000072061]
[ENSMUST00000110272]
[ENSMUST00000117286]
[ENSMUST00000120942]
[ENSMUST00000122194]
|
| AlphaFold |
Q9WUZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021662
AA Change: I81V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236
AA Change: I81V
| 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 benign
Transcript: ENSMUST00000072061
AA Change: I106V
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236
AA Change: I106V
| 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 benign
Transcript: ENSMUST00000110272
AA Change: I81V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236
AA Change: I81V
| 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 benign
Transcript: ENSMUST00000117286
AA Change: I81V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000114011
Gene: ENSMUSG00000021236
AA Change: I81V
| 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 benign
Transcript: ENSMUST00000120942
AA Change: I81V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236
AA Change: I81V
| 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 benign
Transcript: ENSMUST00000122194
AA Change: I81V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000113106
Gene: ENSMUSG00000021236
AA Change: I81V
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
Pfam:GDA1_CD39
|
41 |
426 |
3.5e-76 |
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 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
G |
11: 54,214,131 (GRCm39) |
D87G |
possibly damaging |
Het |
| Adgra3 |
G |
A |
5: 50,144,899 (GRCm39) |
R565* |
probably null |
Het |
| Akap12 |
C |
T |
10: 4,306,886 (GRCm39) |
T1232I |
probably damaging |
Het |
| Arb2a |
A |
T |
13: 78,050,766 (GRCm39) |
|
probably benign |
Het |
| B3gnt2 |
A |
T |
11: 22,787,042 (GRCm39) |
W49R |
probably damaging |
Het |
| Ccdc112 |
T |
A |
18: 46,426,511 (GRCm39) |
K137N |
possibly damaging |
Het |
| Ccdc117 |
G |
T |
11: 5,484,297 (GRCm39) |
T181K |
possibly damaging |
Het |
| Cfh |
T |
C |
1: 140,033,277 (GRCm39) |
K756E |
possibly damaging |
Het |
| Clca3a1 |
C |
T |
3: 144,713,539 (GRCm39) |
M697I |
probably benign |
Het |
| Cyp2c29 |
T |
A |
19: 39,317,561 (GRCm39) |
I349K |
possibly damaging |
Het |
| Dcaf15 |
T |
C |
8: 84,825,219 (GRCm39) |
T434A |
probably benign |
Het |
| Eps8l1 |
T |
A |
7: 4,481,922 (GRCm39) |
|
probably benign |
Het |
| Erbin |
G |
T |
13: 103,995,895 (GRCm39) |
P269Q |
probably damaging |
Het |
| Fbxw22 |
C |
T |
9: 109,214,062 (GRCm39) |
M251I |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,308,354 (GRCm39) |
T9S |
probably benign |
Het |
| Haus8 |
T |
C |
8: 71,705,875 (GRCm39) |
I270V |
probably benign |
Het |
| Herc4 |
T |
A |
10: 63,121,922 (GRCm39) |
|
probably null |
Het |
| Hspg2 |
G |
A |
4: 137,281,128 (GRCm39) |
V3367M |
probably damaging |
Het |
| Htr1f |
A |
T |
16: 64,746,385 (GRCm39) |
F302L |
probably damaging |
Het |
| Inpp5f |
T |
C |
7: 128,279,773 (GRCm39) |
C458R |
probably damaging |
Het |
| Klhl18 |
T |
C |
9: 110,261,511 (GRCm39) |
E411G |
probably damaging |
Het |
| Krt20 |
A |
T |
11: 99,322,769 (GRCm39) |
F289I |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,355,065 (GRCm39) |
|
probably null |
Het |
| Nav1 |
T |
C |
1: 135,397,373 (GRCm39) |
D932G |
probably benign |
Het |
| Nme4 |
A |
T |
17: 26,311,036 (GRCm39) |
D176E |
probably benign |
Het |
| Nox4 |
C |
T |
7: 87,025,424 (GRCm39) |
S517L |
possibly damaging |
Het |
| Or1j13 |
A |
T |
2: 36,369,368 (GRCm39) |
L258H |
probably damaging |
Het |
| Pate8 |
T |
A |
9: 36,492,659 (GRCm39) |
H82L |
probably benign |
Het |
| Pip5k1a |
T |
C |
3: 94,975,471 (GRCm39) |
D333G |
probably benign |
Het |
| Polb |
T |
C |
8: 23,143,088 (GRCm39) |
Y36C |
probably damaging |
Het |
| Spta1 |
T |
C |
1: 174,030,877 (GRCm39) |
I953T |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,659,686 (GRCm39) |
D1071E |
probably damaging |
Het |
| Stxbp3-ps |
T |
C |
19: 9,535,371 (GRCm39) |
|
noncoding transcript |
Het |
| Tmcc3 |
A |
T |
10: 94,422,617 (GRCm39) |
I356F |
probably damaging |
Het |
| Tmem262 |
G |
T |
19: 6,130,189 (GRCm39) |
R6L |
probably damaging |
Het |
| Tnks |
C |
A |
8: 35,408,054 (GRCm39) |
V225L |
probably damaging |
Het |
|
| Other mutations in Entpd5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00924:Entpd5
|
APN |
12 |
84,433,828 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-11 |
Incidental Mutation