Incidental Mutation 'R6899:Inpp5e'
ID |
541000 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inpp5e
|
Ensembl Gene |
ENSMUSG00000026925 |
Gene Name |
inositol polyphosphate-5-phosphatase E |
Synonyms |
1200002L24Rik, 72kDa |
MMRRC Submission |
044993-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6899 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
26286261-26299215 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 26290060 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 462
(R462C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076431]
[ENSMUST00000114090]
[ENSMUST00000145701]
|
AlphaFold |
Q9JII1 |
Predicted Effect |
probably benign
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 |
possibly damaging
Transcript: ENSMUST00000114090
AA Change: R462C
PolyPhen 2
Score 0.770 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109724 Gene: ENSMUSG00000026925 AA Change: R462C
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 |
|
SMART Domains |
Protein: ENSMUSP00000123272 Gene: ENSMUSG00000026925 AA Change: R148C
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
AA Change: R462C
PolyPhen 2
Score 0.334 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000119485 Gene: ENSMUSG00000026925 AA Change: R462C
Domain | Start | End | E-Value | Type |
low complexity region
|
277 |
294 |
N/A |
INTRINSIC |
IPPc
|
300 |
602 |
1.27e-62 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.0%
- 20x: 95.9%
|
Validation Efficiency |
98% (56/57) |
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca16 |
A |
G |
7: 120,126,264 (GRCm39) |
Y1140C |
probably damaging |
Het |
Actl9 |
G |
A |
17: 33,652,533 (GRCm39) |
G198S |
probably damaging |
Het |
Adcy2 |
A |
T |
13: 69,130,500 (GRCm39) |
M129K |
probably damaging |
Het |
Apmap |
T |
A |
2: 150,436,228 (GRCm39) |
I107F |
probably benign |
Het |
Arrdc3 |
T |
C |
13: 81,037,330 (GRCm39) |
I162T |
probably damaging |
Het |
Asprv1 |
T |
C |
6: 86,605,742 (GRCm39) |
L196P |
probably damaging |
Het |
Atpsckmt |
A |
G |
15: 31,617,257 (GRCm39) |
S163G |
probably benign |
Het |
Bag2 |
A |
G |
1: 33,785,912 (GRCm39) |
S137P |
possibly damaging |
Het |
Borcs5 |
T |
A |
6: 134,687,173 (GRCm39) |
M177K |
probably benign |
Het |
C8b |
A |
T |
4: 104,644,071 (GRCm39) |
K246M |
probably benign |
Het |
Cdo1 |
A |
G |
18: 46,856,407 (GRCm39) |
C76R |
probably damaging |
Het |
Ces2b |
T |
A |
8: 105,563,398 (GRCm39) |
|
probably null |
Het |
Csf2rb |
G |
A |
15: 78,224,902 (GRCm39) |
S194N |
probably benign |
Het |
Dap3 |
A |
G |
3: 88,840,907 (GRCm39) |
F77L |
probably benign |
Het |
Dars1 |
A |
G |
1: 128,341,483 (GRCm39) |
V44A |
possibly damaging |
Het |
Dhtkd1 |
T |
A |
2: 5,922,776 (GRCm39) |
D461V |
possibly damaging |
Het |
Ero1a |
A |
C |
14: 45,530,396 (GRCm39) |
H345Q |
probably benign |
Het |
Fzd8 |
T |
A |
18: 9,214,729 (GRCm39) |
S604T |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gramd1c |
T |
A |
16: 43,860,505 (GRCm39) |
Y64F |
probably benign |
Het |
Heatr5b |
T |
A |
17: 79,110,938 (GRCm39) |
Y970F |
probably benign |
Het |
Hoxc10 |
A |
G |
15: 102,875,942 (GRCm39) |
E217G |
possibly damaging |
Het |
Hsd17b14 |
A |
T |
7: 45,212,352 (GRCm39) |
H128L |
possibly damaging |
Het |
Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
Ifna9 |
A |
G |
4: 88,510,300 (GRCm39) |
F108S |
probably damaging |
Het |
Ikbke |
A |
G |
1: 131,203,499 (GRCm39) |
V58A |
probably damaging |
Het |
Junb |
A |
G |
8: 85,704,353 (GRCm39) |
F236L |
probably benign |
Het |
Klhl36 |
T |
C |
8: 120,596,881 (GRCm39) |
V194A |
probably benign |
Het |
Lsg1 |
A |
T |
16: 30,400,906 (GRCm39) |
D134E |
probably benign |
Het |
Megf8 |
G |
T |
7: 25,060,138 (GRCm39) |
C2343F |
probably damaging |
Het |
Mtres1 |
T |
C |
10: 43,408,780 (GRCm39) |
E121G |
possibly damaging |
Het |
Myom3 |
G |
A |
4: 135,530,603 (GRCm39) |
G1172R |
probably damaging |
Het |
Nasp |
A |
T |
4: 116,461,530 (GRCm39) |
V548E |
probably damaging |
Het |
Nubpl |
T |
A |
12: 52,357,536 (GRCm39) |
S317T |
probably benign |
Het |
Nup210l |
A |
G |
3: 90,075,204 (GRCm39) |
D838G |
possibly damaging |
Het |
Oxsr1 |
C |
T |
9: 119,076,188 (GRCm39) |
A373T |
probably benign |
Het |
Psat1 |
C |
T |
19: 15,895,569 (GRCm39) |
|
probably null |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Slain1 |
C |
T |
14: 103,888,215 (GRCm39) |
P45L |
possibly damaging |
Het |
Slc16a8 |
A |
G |
15: 79,137,949 (GRCm39) |
V20A |
possibly damaging |
Het |
Slc22a13 |
A |
T |
9: 119,025,473 (GRCm39) |
M145K |
probably damaging |
Het |
Slc22a4 |
G |
A |
11: 53,879,739 (GRCm39) |
T440I |
probably damaging |
Het |
Slc39a12 |
C |
T |
2: 14,394,352 (GRCm39) |
P74L |
probably damaging |
Het |
Sod3 |
A |
G |
5: 52,526,050 (GRCm39) |
T250A |
unknown |
Het |
Syne2 |
A |
G |
12: 76,142,503 (GRCm39) |
|
probably null |
Het |
Tctn1 |
A |
G |
5: 122,387,019 (GRCm39) |
Y299H |
probably damaging |
Het |
Tfcp2l1 |
A |
G |
1: 118,603,305 (GRCm39) |
M448V |
probably benign |
Het |
Tfpi |
C |
T |
2: 84,275,153 (GRCm39) |
G152S |
probably damaging |
Het |
Thap4 |
A |
G |
1: 93,678,691 (GRCm39) |
S32P |
probably damaging |
Het |
Tmem132c |
T |
A |
5: 127,628,744 (GRCm39) |
W549R |
probably damaging |
Het |
Vmn2r29 |
T |
C |
7: 7,244,641 (GRCm39) |
E411G |
probably damaging |
Het |
Washc4 |
C |
A |
10: 83,411,919 (GRCm39) |
D683E |
probably benign |
Het |
Wdr3 |
A |
T |
3: 100,057,217 (GRCm39) |
V462D |
possibly damaging |
Het |
Wdr5b |
T |
C |
16: 35,862,150 (GRCm39) |
S90P |
probably damaging |
Het |
Zfp407 |
A |
G |
18: 84,579,559 (GRCm39) |
L518P |
possibly damaging |
Het |
Zfp53 |
A |
G |
17: 21,728,707 (GRCm39) |
I247V |
possibly damaging |
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 |
R5090:Inpp5e
|
UTSW |
2 |
26,289,383 (GRCm39) |
splice site |
probably null |
|
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 |
|
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'- TTCTCACAGCTCAGTAAGGGCC -3'
(R):5'- TTGTCAACCACAGCCCTGAG -3'
Sequencing Primer
(F):5'- CCAGGAAGTGGTTGGCAC -3'
(R):5'- GCAGAGCCCCACAGCAG -3'
|
Posted On |
2018-11-28 |