Incidental Mutation 'RF023:Entpd2'
| ID |
603976 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Entpd2
|
| Ensembl Gene |
ENSMUSG00000015085 |
| Gene Name |
ectonucleoside triphosphate diphosphohydrolase 2 |
| Synonyms |
NTPDase2, Cd39l1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
RF023 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
25285886-25291333 bp(+) (GRCm39) |
| Type of Mutation |
frame shift |
| DNA Base Change (assembly) |
CTT to CTTT
at 25290907 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000028328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028328]
[ENSMUST00000055921]
[ENSMUST00000071442]
[ENSMUST00000141567]
[ENSMUST00000154809]
|
| AlphaFold |
O55026 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028328
|
| SMART Domains |
Protein: ENSMUSP00000028328
Gene: ENSMUSG00000015085
| 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 |
probably benign
Transcript: ENSMUST00000141567
|
| SMART Domains |
Protein: ENSMUSP00000116275
Gene: ENSMUSG00000015094
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NPDC1
|
1 |
231 |
7.8e-141 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.4%
- 20x: 98.7%
|
| Validation Efficiency |
96% (24/25) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
ACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,818 (GRCm39) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAAACAGAAAGGAAAAGGTGGCCAG |
AAAAACAGAAAGGAAAAGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,529,841 (GRCm39) |
|
probably benign |
Het |
| A030005L19Rik |
TTGCTGTGGCTGTGGAGGTTGTGGCGGCTGTGGCTGTGG |
TGGCTGTGGCTGTGG |
1: 82,891,117 (GRCm39) |
|
probably benign |
Het |
| Amot |
GCAACAGCAAC |
GC |
X: 144,233,999 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
G |
A |
10: 89,869,087 (GRCm39) |
G49D |
probably damaging |
Het |
| Arhgef5 |
T |
A |
6: 43,256,407 (GRCm39) |
S1172T |
probably damaging |
Het |
| Bltp1 |
T |
TTATTATTATTATTAG |
3: 37,104,909 (GRCm39) |
|
probably benign |
Het |
| Cacna2d4 |
G |
A |
6: 119,245,191 (GRCm39) |
V300I |
probably benign |
Het |
| Calhm1 |
GTGGC |
GTGGCTGTGGCTTTGGC |
19: 47,129,712 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
T |
C |
11: 5,922,301 (GRCm39) |
T516A |
probably damaging |
Het |
| Ccdc170 |
CCA |
CCAACA |
10: 4,511,018 (GRCm39) |
|
probably benign |
Het |
| Cdhr3 |
G |
T |
12: 33,110,348 (GRCm39) |
S312Y |
probably damaging |
Het |
| Cdk1 |
C |
T |
10: 69,176,328 (GRCm39) |
G260S |
possibly damaging |
Het |
| Cdsn |
AG |
AGACAGGAAGTAGTAGCTCTCAG |
17: 35,865,876 (GRCm39) |
|
probably benign |
Het |
| Cenpp |
A |
T |
13: 49,803,620 (GRCm39) |
V88E |
probably benign |
Het |
| Cfap46 |
TCTTCTCCCTCTCCTTCTCCTTCTCCTTCTCC |
TCTTCTCCTTCTCCTTCTCC |
7: 139,218,834 (GRCm39) |
|
|
Het |
| Dnah11 |
T |
A |
12: 117,918,585 (GRCm39) |
R3449W |
probably damaging |
Het |
| Dnmt1 |
AGTTCCTACCTCGTT |
AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT |
9: 20,821,427 (GRCm39) |
|
probably null |
Het |
| E4f1 |
AGGC |
AGGCGGC |
17: 24,674,157 (GRCm39) |
|
probably benign |
Het |
| Efhd2 |
CCGCCG |
CCGCCGGCGCCG |
4: 141,602,073 (GRCm39) |
|
probably benign |
Het |
| Ephx2 |
A |
G |
14: 66,322,378 (GRCm39) |
|
probably null |
Het |
| Exd2 |
GCAGCAGCCGCAGCCACAGC |
GCAGC |
12: 80,522,689 (GRCm39) |
|
probably benign |
Het |
| Gabre |
GCTC |
GCTCCGTCTC |
X: 71,313,660 (GRCm39) |
|
probably benign |
Het |
| H13 |
G |
A |
2: 152,511,589 (GRCm39) |
E30K |
probably damaging |
Het |
| Herc1 |
G |
C |
9: 66,365,616 (GRCm39) |
G324R |
|
Het |
| Hsdl2 |
CAGCCACAGCTGCAG |
CAGCCACAGCTGCAGCAGGAGCCACAGCTGCAG |
4: 59,610,644 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GCTTGAAG |
GCTTGAAGCGGGCCTTGAAG |
3: 37,179,969 (GRCm39) |
|
probably benign |
Het |
| Krtap28-10 |
CAG |
CAGCCCTAG |
1: 83,019,867 (GRCm39) |
|
probably null |
Het |
| Krtap28-10 |
ACAGC |
ACAGCCACGGCCACCGCAGC |
1: 83,020,007 (GRCm39) |
|
probably benign |
Het |
| Krtap4-9 |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
GGCCCAGCTGCTGTGTGTCCAGCTGCTGCAGGCCCAGCTGCTGTGTGTCCAGCTGCTGCAG |
11: 99,676,217 (GRCm39) |
|
probably benign |
Het |
| Lce1m |
TGCTGCC |
TGCTGCCCCCGCCGCTGCC |
3: 92,925,587 (GRCm39) |
|
probably benign |
Het |
| Lrch1 |
TGGTGGTG |
T |
14: 75,185,006 (GRCm39) |
|
probably null |
Het |
| Mgam |
C |
T |
6: 40,657,642 (GRCm39) |
T999I |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,900,057 (GRCm39) |
E740G |
probably damaging |
Het |
| Nek1 |
A |
G |
8: 61,525,779 (GRCm39) |
|
probably null |
Het |
| Phactr2 |
T |
A |
10: 13,121,178 (GRCm39) |
Q503H |
probably benign |
Het |
| Ptprd |
T |
C |
4: 76,046,802 (GRCm39) |
Y241C |
probably damaging |
Het |
| Rad51ap2 |
T |
G |
12: 11,508,076 (GRCm39) |
V666G |
possibly damaging |
Het |
| Reep1 |
CC |
CCCGAC |
6: 71,684,952 (GRCm39) |
|
probably null |
Het |
| Rfx4 |
CTCTCTCTCT |
CTCTCTCTCTCTCTCTCTGTCTCTCTCT |
10: 84,694,349 (GRCm39) |
|
probably benign |
Het |
| Rnf126 |
AGGACGAGG |
AG |
10: 79,594,977 (GRCm39) |
|
probably null |
Het |
| Rnpc3 |
A |
T |
3: 113,413,723 (GRCm39) |
S240T |
probably damaging |
Het |
| Rtbdn |
GCAGCG |
GCAGCGTCAGCG |
8: 85,682,795 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
G |
T |
19: 44,524,226 (GRCm39) |
A138D |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,205,482 (GRCm39) |
W3495R |
probably damaging |
Het |
| Tgoln1 |
CC |
CCCGTGGGCTTGCCAGAATTACCTTC |
6: 72,593,063 (GRCm39) |
|
probably benign |
Het |
| Tmtc3 |
T |
C |
10: 100,313,728 (GRCm39) |
H48R |
probably benign |
Het |
| Trappc9 |
CTGCTGCT |
CTGCTGCTGCTGCTGATGCTGCT |
15: 72,673,173 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
T |
TGCTGCTGCTGCTGCC |
15: 72,673,180 (GRCm39) |
|
probably benign |
Het |
| Vsig2 |
T |
A |
9: 37,450,559 (GRCm39) |
|
probably null |
Het |
| Wnk2 |
T |
C |
13: 49,300,255 (GRCm39) |
T152A |
probably benign |
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 |
|
R5239:Entpd2
|
UTSW |
2 |
25,290,830 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
|
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'- CCGTGGAGTGGTCTTCGAAAAG -3'
(R):5'- GCCCATGTAGACTTTCTGTGAG -3'
Sequencing Primer
(F):5'- GCGGGGTCAGGAGGATTC -3'
(R):5'- CTGTGAGTGTAGATAAGGACCGTCC -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation