Incidental Mutation 'R6907:Entpd5'
| ID |
538834 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entpd5
|
| Ensembl Gene |
ENSMUSG00000021236 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 5 |
| Synonyms |
Pcph, NTPDase-5, mNTPase, ER-UDPase, NTPDase5, Cd39l4 |
| MMRRC Submission |
044999-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6907 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
84420649-84455803 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 84424127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 409
(T409A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113106
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021661]
[ENSMUST00000021662]
[ENSMUST00000072061]
[ENSMUST00000110272]
[ENSMUST00000110276]
[ENSMUST00000110278]
[ENSMUST00000117286]
[ENSMUST00000120942]
[ENSMUST00000122194]
[ENSMUST00000152913]
|
| AlphaFold |
Q9WUZ9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021661
|
| SMART Domains |
Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
195 |
328 |
3.9e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
334 |
435 |
1.3e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021662
AA Change: T409A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236
AA Change: T409A
| 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: T434A
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236
AA Change: T434A
| 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: T409A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236
AA Change: T409A
| 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: ENSMUST00000110276
|
| SMART Domains |
Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
195 |
328 |
5.1e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
334 |
435 |
1.7e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110278
|
| SMART Domains |
Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
low complexity region
|
46 |
56 |
N/A |
INTRINSIC |
|
Pfam:FAD_binding_3
|
195 |
328 |
6.8e-8 |
PFAM |
|
Pfam:FAD_binding_3
|
334 |
410 |
1.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117286
AA Change: T409A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000114011
Gene: ENSMUSG00000021236
AA Change: T409A
| 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: T409A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236
AA Change: T409A
| 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: T409A
PolyPhen 2
Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000113106
Gene: ENSMUSG00000021236
AA Change: T409A
| 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: ENSMUST00000152913
|
| SMART Domains |
Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
SCOP:d1foha5
|
39 |
269 |
1e-10 |
SMART |
|
PDB:4K22|B
|
94 |
274 |
1e-20 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
T |
C |
8: 112,698,793 (GRCm39) |
I344V |
probably benign |
Het |
| Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
| Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
| Exd1 |
A |
G |
2: 119,363,957 (GRCm39) |
V137A |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
| Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
| Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
| Nob1 |
C |
T |
8: 108,142,860 (GRCm39) |
V274M |
possibly damaging |
Het |
| Ntng2 |
A |
G |
2: 29,118,218 (GRCm39) |
C77R |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,064,124 (GRCm39) |
T263A |
probably benign |
Het |
| Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
| Ppm1k |
T |
G |
6: 57,487,755 (GRCm39) |
E356A |
probably benign |
Het |
| Ptgfr |
G |
T |
3: 151,540,938 (GRCm39) |
T190K |
possibly damaging |
Het |
| Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
| Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
| Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
| Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
| Wdsub1 |
C |
T |
2: 59,692,028 (GRCm39) |
V335I |
possibly 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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACCAGTTAACGGGTTTCGGG -3'
(R):5'- TTAAGGGGCATCCATAAGCC -3'
Sequencing Primer
(F):5'- GCCAGGCTTTTCCAGAGAG -3'
(R):5'- CAAAGGCTCTCTAGAACTGTCTGG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation