Incidental Mutation 'R5090:Inpp5e'
ID |
387673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5e
|
Ensembl Gene |
ENSMUSG00000026925 |
Gene Name |
inositol polyphosphate-5-phosphatase E |
Synonyms |
1200002L24Rik, 72kDa |
MMRRC Submission |
042679-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5090 (G1)
|
Quality Score |
193 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26286261-26299215 bp(-) (GRCm39) |
Type of Mutation |
splice site (2249 bp from exon) |
DNA Base Change (assembly) |
A to T
at 26289383 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075762
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076431]
[ENSMUST00000114090]
[ENSMUST00000145701]
|
AlphaFold |
Q9JII1 |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000028291
|
Predicted Effect |
probably null
Transcript: ENSMUST00000076431
|
SMART Domains |
Protein: ENSMUSP00000075762 Gene: ENSMUSG00000026926
Domain | Start | End | E-Value | Type |
Pfam:Peptidase_M16
|
76 |
226 |
4.5e-47 |
PFAM |
Pfam:Peptidase_M16_C
|
231 |
430 |
4.1e-43 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114090
|
SMART Domains |
Protein: ENSMUSP00000109724 Gene: ENSMUSG00000026925
Domain | Start | End | E-Value | Type |
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000131109
|
SMART Domains |
Protein: ENSMUSP00000118739 Gene: ENSMUSG00000026925
Domain | Start | End | E-Value | Type |
Pfam:Exo_endo_phos
|
4 |
88 |
6.4e-9 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000144011
|
SMART Domains |
Protein: ENSMUSP00000123272 Gene: ENSMUSG00000026925
Domain | Start | End | E-Value | Type |
low complexity region
|
1 |
15 |
N/A |
INTRINSIC |
IPPc
|
21 |
206 |
1.76e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145701
|
SMART Domains |
Protein: ENSMUSP00000119485 Gene: ENSMUSG00000026925
Domain | Start | End | E-Value | Type |
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150907
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146061
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.2%
|
Validation Efficiency |
99% (66/67) |
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 an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016] PHENOTYPE: Mice homozygous for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
A |
G |
7: 119,984,422 (GRCm39) |
S1168G |
probably damaging |
Het |
Acsf2 |
A |
T |
11: 94,462,095 (GRCm39) |
|
probably null |
Het |
Ankk1 |
G |
T |
9: 49,333,063 (GRCm39) |
S140R |
probably damaging |
Het |
Ash1l |
G |
T |
3: 88,960,184 (GRCm39) |
K2305N |
probably damaging |
Het |
Asnsd1 |
C |
T |
1: 53,391,563 (GRCm39) |
|
probably benign |
Het |
Atxn7l1 |
T |
C |
12: 33,376,077 (GRCm39) |
S51P |
probably damaging |
Het |
Ccdc88c |
A |
G |
12: 100,920,439 (GRCm39) |
L394P |
probably damaging |
Het |
Cd200r1 |
T |
A |
16: 44,609,924 (GRCm39) |
S48T |
possibly damaging |
Het |
Cemip |
T |
C |
7: 83,591,343 (GRCm39) |
E1243G |
probably damaging |
Het |
Cep192 |
T |
A |
18: 67,993,617 (GRCm39) |
H1977Q |
possibly damaging |
Het |
Cep250 |
T |
C |
2: 155,818,324 (GRCm39) |
L833P |
probably damaging |
Het |
Chd9 |
C |
A |
8: 91,753,462 (GRCm39) |
Y1818* |
probably null |
Het |
Clca3a1 |
C |
A |
3: 144,443,633 (GRCm39) |
V706L |
probably benign |
Het |
Cntln |
T |
C |
4: 84,865,830 (GRCm39) |
V162A |
probably damaging |
Het |
Col5a1 |
G |
A |
2: 27,908,614 (GRCm39) |
W67* |
probably null |
Het |
Cux1 |
T |
A |
5: 136,342,054 (GRCm39) |
N446I |
possibly damaging |
Het |
Dlg1 |
G |
T |
16: 31,656,902 (GRCm39) |
G599W |
probably damaging |
Het |
Dock7 |
C |
T |
4: 98,879,648 (GRCm39) |
V969I |
probably benign |
Het |
Ephb3 |
T |
C |
16: 21,033,237 (GRCm39) |
C74R |
probably damaging |
Het |
Fads6 |
T |
A |
11: 115,187,480 (GRCm39) |
T72S |
probably benign |
Het |
Fra10ac1 |
C |
T |
19: 38,202,873 (GRCm39) |
R110Q |
probably damaging |
Het |
Gdf3 |
T |
A |
6: 122,586,713 (GRCm39) |
L71F |
probably benign |
Het |
Gm6685 |
A |
G |
11: 28,289,253 (GRCm39) |
Y188H |
probably benign |
Het |
Gm6981 |
A |
C |
9: 51,914,142 (GRCm39) |
|
noncoding transcript |
Het |
Gnpda1 |
T |
C |
18: 38,465,146 (GRCm39) |
T157A |
probably damaging |
Het |
Grap2 |
A |
C |
15: 80,522,683 (GRCm39) |
N70H |
possibly damaging |
Het |
Gvin3 |
T |
A |
7: 106,200,109 (GRCm39) |
|
noncoding transcript |
Het |
Hdac5 |
G |
A |
11: 102,088,539 (GRCm39) |
R887C |
probably damaging |
Het |
Hectd3 |
T |
A |
4: 116,857,435 (GRCm39) |
|
probably benign |
Het |
Hmgcr |
T |
C |
13: 96,787,098 (GRCm39) |
K162E |
probably benign |
Het |
Kifap3 |
A |
G |
1: 163,683,645 (GRCm39) |
D442G |
possibly damaging |
Het |
Lama3 |
A |
G |
18: 12,675,459 (GRCm39) |
T1015A |
possibly damaging |
Het |
Lcp2 |
T |
A |
11: 34,039,725 (GRCm39) |
Y508* |
probably null |
Het |
Map1b |
G |
T |
13: 99,566,534 (GRCm39) |
Y2062* |
probably null |
Het |
Mipep |
A |
G |
14: 61,039,748 (GRCm39) |
D259G |
possibly damaging |
Het |
Mmp2 |
T |
C |
8: 93,579,202 (GRCm39) |
F97S |
probably damaging |
Het |
Mrpl18 |
A |
C |
17: 13,132,697 (GRCm39) |
M144R |
probably damaging |
Het |
Nek9 |
A |
G |
12: 85,376,616 (GRCm39) |
|
probably null |
Het |
Nmral1 |
A |
T |
16: 4,532,395 (GRCm39) |
Y139N |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,799,894 (GRCm39) |
C952R |
probably damaging |
Het |
Nsf |
T |
C |
11: 103,801,404 (GRCm39) |
N204D |
probably benign |
Het |
P2rx4 |
A |
T |
5: 122,863,118 (GRCm39) |
D197V |
probably damaging |
Het |
Pak5 |
A |
T |
2: 135,929,338 (GRCm39) |
I615N |
probably damaging |
Het |
Parp10 |
T |
C |
15: 76,125,925 (GRCm39) |
D421G |
probably damaging |
Het |
Pcdha6 |
A |
T |
18: 37,101,770 (GRCm39) |
D321V |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,270,981 (GRCm39) |
I3191F |
probably damaging |
Het |
Psmd4 |
T |
C |
3: 94,942,559 (GRCm39) |
N7S |
possibly damaging |
Het |
Ptprq |
A |
G |
10: 107,361,950 (GRCm39) |
V2084A |
probably damaging |
Het |
Rab3gap1 |
A |
G |
1: 127,843,415 (GRCm39) |
E263G |
probably benign |
Het |
Rbm5 |
A |
G |
9: 107,637,511 (GRCm39) |
|
probably benign |
Het |
Sacs |
T |
C |
14: 61,442,702 (GRCm39) |
F1583L |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,357,388 (GRCm39) |
H201Q |
probably benign |
Het |
Shoc1 |
T |
C |
4: 59,111,108 (GRCm39) |
T55A |
unknown |
Het |
Tdpoz3 |
T |
A |
3: 93,733,870 (GRCm39) |
W182R |
possibly damaging |
Het |
Trim55 |
A |
G |
3: 19,725,771 (GRCm39) |
N313S |
probably benign |
Het |
Usp17lb |
A |
T |
7: 104,490,290 (GRCm39) |
D212E |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,355,814 (GRCm39) |
E3525G |
possibly damaging |
Het |
Zfp236 |
T |
C |
18: 82,637,006 (GRCm39) |
T1379A |
probably benign |
Het |
Zfp553 |
A |
T |
7: 126,834,659 (GRCm39) |
E71D |
probably damaging |
Het |
Znrf1 |
T |
G |
8: 112,265,035 (GRCm39) |
F21V |
probably benign |
Het |
|
Other mutations in Inpp5e |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00236:Inpp5e
|
APN |
2 |
26,298,533 (GRCm39) |
missense |
probably benign |
|
IGL00943:Inpp5e
|
APN |
2 |
26,290,163 (GRCm39) |
splice site |
probably benign |
|
IGL01518:Inpp5e
|
APN |
2 |
26,287,946 (GRCm39) |
missense |
probably damaging |
1.00 |
R0212:Inpp5e
|
UTSW |
2 |
26,298,352 (GRCm39) |
splice site |
probably null |
|
R1818:Inpp5e
|
UTSW |
2 |
26,287,886 (GRCm39) |
missense |
probably benign |
0.00 |
R1876:Inpp5e
|
UTSW |
2 |
26,298,169 (GRCm39) |
missense |
possibly damaging |
0.91 |
R2508:Inpp5e
|
UTSW |
2 |
26,289,355 (GRCm39) |
missense |
probably damaging |
1.00 |
R4175:Inpp5e
|
UTSW |
2 |
26,290,937 (GRCm39) |
missense |
probably damaging |
0.99 |
R4647:Inpp5e
|
UTSW |
2 |
26,297,926 (GRCm39) |
missense |
probably benign |
0.01 |
R4668:Inpp5e
|
UTSW |
2 |
26,291,006 (GRCm39) |
missense |
probably damaging |
0.97 |
R4895:Inpp5e
|
UTSW |
2 |
26,287,924 (GRCm39) |
missense |
probably damaging |
1.00 |
R4908:Inpp5e
|
UTSW |
2 |
26,290,918 (GRCm39) |
missense |
probably damaging |
1.00 |
R5096:Inpp5e
|
UTSW |
2 |
26,289,537 (GRCm39) |
missense |
probably damaging |
1.00 |
R5830:Inpp5e
|
UTSW |
2 |
26,290,427 (GRCm39) |
missense |
probably damaging |
1.00 |
R6056:Inpp5e
|
UTSW |
2 |
26,297,860 (GRCm39) |
nonsense |
probably null |
|
R6899:Inpp5e
|
UTSW |
2 |
26,290,060 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6939:Inpp5e
|
UTSW |
2 |
26,297,774 (GRCm39) |
splice site |
probably null |
|
R7003:Inpp5e
|
UTSW |
2 |
26,287,877 (GRCm39) |
missense |
probably benign |
0.01 |
R7164:Inpp5e
|
UTSW |
2 |
26,297,995 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7275:Inpp5e
|
UTSW |
2 |
26,298,104 (GRCm39) |
missense |
probably benign |
0.00 |
R7285:Inpp5e
|
UTSW |
2 |
26,287,870 (GRCm39) |
missense |
probably benign |
0.36 |
R7468:Inpp5e
|
UTSW |
2 |
26,298,161 (GRCm39) |
missense |
probably benign |
0.00 |
R7873:Inpp5e
|
UTSW |
2 |
26,297,957 (GRCm39) |
nonsense |
probably null |
|
R8032:Inpp5e
|
UTSW |
2 |
26,286,865 (GRCm39) |
missense |
|
|
R8146:Inpp5e
|
UTSW |
2 |
26,289,274 (GRCm39) |
missense |
probably benign |
0.00 |
R9227:Inpp5e
|
UTSW |
2 |
26,288,616 (GRCm39) |
missense |
probably damaging |
1.00 |
R9310:Inpp5e
|
UTSW |
2 |
26,287,940 (GRCm39) |
missense |
probably benign |
|
R9706:Inpp5e
|
UTSW |
2 |
26,292,126 (GRCm39) |
missense |
probably benign |
0.21 |
RF002:Inpp5e
|
UTSW |
2 |
26,298,389 (GRCm39) |
missense |
possibly damaging |
0.95 |
X0061:Inpp5e
|
UTSW |
2 |
26,292,159 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATGCTTGACATGAGCTGTGG -3'
(R):5'- ATGTCACTACCCGGTTTGATGAG -3'
Sequencing Primer
(F):5'- ACATGAGCTGTGGTTGGCAG -3'
(R):5'- ACTACCCGGTTTGATGAGGTCTTC -3'
|
Posted On |
2016-06-06 |