Incidental Mutation 'R1536:Entpd5'
ID |
169543 |
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 |
039575-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1536 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
84420649-84455803 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 84429069 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 321
(R321*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000113106
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021662]
[ENSMUST00000072061]
[ENSMUST00000110272]
[ENSMUST00000117286]
[ENSMUST00000120942]
[ENSMUST00000122194]
|
AlphaFold |
Q9WUZ9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000021662
AA Change: R321*
|
SMART Domains |
Protein: ENSMUSP00000021662 Gene: ENSMUSG00000021236 AA Change: R321*
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 null
Transcript: ENSMUST00000072061
AA Change: R346*
|
SMART Domains |
Protein: ENSMUSP00000071939 Gene: ENSMUSG00000021236 AA Change: R346*
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 null
Transcript: ENSMUST00000110272
AA Change: R321*
|
SMART Domains |
Protein: ENSMUSP00000105901 Gene: ENSMUSG00000021236 AA Change: R321*
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 null
Transcript: ENSMUST00000117286
AA Change: R321*
|
SMART Domains |
Protein: ENSMUSP00000114011 Gene: ENSMUSG00000021236 AA Change: R321*
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 null
Transcript: ENSMUST00000120942
AA Change: R321*
|
SMART Domains |
Protein: ENSMUSP00000112516 Gene: ENSMUSG00000021236 AA Change: R321*
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 null
Transcript: ENSMUST00000122194
AA Change: R321*
|
SMART Domains |
Protein: ENSMUSP00000113106 Gene: ENSMUSG00000021236 AA Change: R321*
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.5%
|
Validation Efficiency |
98% (59/60) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
T |
5: 88,118,524 (GRCm39) |
I3F |
probably benign |
Het |
4930590J08Rik |
A |
G |
6: 91,894,016 (GRCm39) |
N211S |
probably benign |
Het |
A2ml1 |
A |
T |
6: 128,524,196 (GRCm39) |
Y1145* |
probably null |
Het |
Abca7 |
A |
G |
10: 79,850,064 (GRCm39) |
D1972G |
probably benign |
Het |
Adamts19 |
A |
T |
18: 59,185,687 (GRCm39) |
D1187V |
probably damaging |
Het |
Adcy6 |
G |
C |
15: 98,497,888 (GRCm39) |
I421M |
probably damaging |
Het |
Afap1 |
C |
A |
5: 36,131,835 (GRCm39) |
H387Q |
probably damaging |
Het |
Atp8b1 |
C |
T |
18: 64,678,335 (GRCm39) |
V854M |
probably damaging |
Het |
Auts2 |
C |
T |
5: 131,516,302 (GRCm39) |
|
probably benign |
Het |
Cbll1 |
T |
C |
12: 31,537,855 (GRCm39) |
D300G |
probably damaging |
Het |
Cd200r4 |
A |
T |
16: 44,653,412 (GRCm39) |
T61S |
possibly damaging |
Het |
Chmp4c |
G |
T |
3: 10,454,744 (GRCm39) |
V207L |
probably benign |
Het |
Cntn5 |
T |
C |
9: 9,976,321 (GRCm39) |
T413A |
possibly damaging |
Het |
Cox7a2 |
T |
A |
9: 79,665,863 (GRCm39) |
|
probably null |
Het |
Cwc27 |
A |
G |
13: 104,933,814 (GRCm39) |
L236P |
probably damaging |
Het |
Diaph1 |
A |
G |
18: 38,029,146 (GRCm39) |
|
probably null |
Het |
Dst |
T |
A |
1: 34,299,453 (GRCm39) |
|
probably benign |
Het |
Ear1 |
T |
A |
14: 44,056,583 (GRCm39) |
H95L |
probably damaging |
Het |
Enpp1 |
T |
A |
10: 24,517,732 (GRCm39) |
H898L |
probably benign |
Het |
Ercc6l2 |
C |
A |
13: 63,972,685 (GRCm39) |
N177K |
possibly damaging |
Het |
Ergic1 |
T |
C |
17: 26,860,680 (GRCm39) |
|
probably null |
Het |
Erich6 |
A |
T |
3: 58,534,019 (GRCm39) |
I336N |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 52,995,549 (GRCm39) |
E424G |
probably damaging |
Het |
Galnt3 |
A |
T |
2: 65,914,550 (GRCm39) |
D622E |
probably damaging |
Het |
Gjd4 |
T |
A |
18: 9,280,569 (GRCm39) |
T170S |
probably damaging |
Het |
Gm5611 |
G |
A |
9: 16,941,903 (GRCm39) |
|
noncoding transcript |
Het |
Gpc5 |
T |
A |
14: 115,636,662 (GRCm39) |
N448K |
probably benign |
Het |
Klra3 |
G |
C |
6: 130,310,107 (GRCm39) |
R138G |
probably benign |
Het |
Maco1 |
A |
G |
4: 134,531,818 (GRCm39) |
V617A |
probably damaging |
Het |
Man2b2 |
T |
C |
5: 36,978,271 (GRCm39) |
T338A |
probably benign |
Het |
Mbtps1 |
A |
T |
8: 120,272,864 (GRCm39) |
S94T |
probably benign |
Het |
Muc3a |
A |
T |
5: 137,244,538 (GRCm39) |
S205T |
unknown |
Het |
Nav2 |
C |
A |
7: 49,195,682 (GRCm39) |
D1019E |
probably damaging |
Het |
Neurl4 |
T |
A |
11: 69,794,252 (GRCm39) |
L236* |
probably null |
Het |
Or13c25 |
A |
G |
4: 52,911,260 (GRCm39) |
V178A |
probably benign |
Het |
Plcxd3 |
T |
C |
15: 4,546,093 (GRCm39) |
|
probably benign |
Het |
Pprc1 |
T |
C |
19: 46,059,965 (GRCm39) |
|
probably benign |
Het |
Prkaa2 |
T |
A |
4: 104,932,647 (GRCm39) |
N67I |
probably damaging |
Het |
Prom1 |
T |
A |
5: 44,175,695 (GRCm39) |
Y508F |
probably benign |
Het |
Prx |
A |
G |
7: 27,216,683 (GRCm39) |
M534V |
probably damaging |
Het |
Rps6kc1 |
C |
T |
1: 190,603,965 (GRCm39) |
R219Q |
possibly damaging |
Het |
Sbf2 |
T |
C |
7: 109,977,250 (GRCm39) |
Y628C |
probably damaging |
Het |
Slc1a2 |
A |
T |
2: 102,607,855 (GRCm39) |
D501V |
probably benign |
Het |
Spata31 |
A |
T |
13: 65,069,196 (GRCm39) |
Q448L |
probably damaging |
Het |
Stk35 |
T |
C |
2: 129,653,155 (GRCm39) |
|
probably benign |
Het |
Stxbp5 |
T |
A |
10: 9,713,836 (GRCm39) |
R234S |
probably damaging |
Het |
Tifab |
A |
G |
13: 56,324,101 (GRCm39) |
V114A |
probably benign |
Het |
Tiprl |
A |
G |
1: 165,055,975 (GRCm39) |
M49T |
probably benign |
Het |
Tlr12 |
A |
G |
4: 128,511,545 (GRCm39) |
L235P |
possibly damaging |
Het |
Trim43b |
A |
T |
9: 88,967,411 (GRCm39) |
C407* |
probably null |
Het |
Txndc17 |
C |
A |
11: 72,098,533 (GRCm39) |
F28L |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,177,649 (GRCm39) |
R452G |
probably damaging |
Het |
Vmn2r3 |
T |
A |
3: 64,182,538 (GRCm39) |
D387V |
probably damaging |
Het |
Vps13b |
T |
C |
15: 35,875,712 (GRCm39) |
I2699T |
probably damaging |
Het |
Zfp944 |
G |
T |
17: 22,558,697 (GRCm39) |
Y183* |
probably null |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TCTACTGGGAAAGAACTGGGAAGCC -3'
(R):5'- TCAGATTGCCCTGCTGTTTCAGAG -3'
Sequencing Primer
(F):5'- TGGGAAGCCACTGCAAC -3'
(R):5'- ACTGCTGCTCAGAGGCTAAG -3'
|
Posted On |
2014-04-13 |