Incidental Mutation 'R9706:Inpp5e'
| ID |
729783 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Inpp5e
|
| Ensembl Gene |
ENSMUSG00000026925 |
| Gene Name |
inositol polyphosphate-5-phosphatase E |
| Synonyms |
1200002L24Rik, 72kDa |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
26286261-26299215 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26292126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 311
(M311L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119485
(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 |
probably benign
Transcript: ENSMUST00000114090
AA Change: M311L
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109724
Gene: ENSMUSG00000026925
AA Change: M311L
| 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: M31L
| 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: M311L
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000119485
Gene: ENSMUSG00000026925
AA Change: M311L
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
| Atad3a |
C |
T |
4: 155,834,929 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
T |
C |
1: 87,713,977 (GRCm39) |
F463L |
possibly damaging |
Het |
| Camsap3 |
C |
T |
8: 3,658,689 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cldn10 |
T |
A |
14: 119,099,189 (GRCm39) |
M101K |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,681,215 (GRCm39) |
G686D |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,520 (GRCm39) |
L209* |
probably null |
Het |
| Crocc |
C |
A |
4: 140,746,046 (GRCm39) |
R1855L |
possibly damaging |
Het |
| Decr2 |
A |
T |
17: 26,302,869 (GRCm39) |
M169K |
probably benign |
Het |
| Defb22 |
T |
C |
2: 152,327,820 (GRCm39) |
T122A |
unknown |
Het |
| Dnaaf6rt |
A |
C |
1: 31,262,252 (GRCm39) |
E78A |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,017,026 (GRCm39) |
I238N |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,625,901 (GRCm39) |
S457T |
possibly damaging |
Het |
| Ephb3 |
A |
T |
16: 21,039,193 (GRCm39) |
I604F |
probably damaging |
Het |
| Fam184a |
T |
C |
10: 53,575,249 (GRCm39) |
D120G |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,735,474 (GRCm39) |
T267S |
possibly damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,161 (GRCm39) |
Q471L |
probably damaging |
Het |
| H2-Q4 |
A |
T |
17: 35,599,129 (GRCm39) |
Y133F |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,325,735 (GRCm39) |
H285Q |
probably benign |
Het |
| Hc |
A |
C |
2: 34,914,196 (GRCm39) |
V837G |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,305,279 (GRCm39) |
V3151I |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,449,960 (GRCm39) |
F644S |
possibly damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lingo3 |
A |
T |
10: 80,670,288 (GRCm39) |
F547L |
probably damaging |
Het |
| Lrrc47 |
T |
G |
4: 154,096,487 (GRCm39) |
L94R |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,881,902 (GRCm39) |
F155S |
|
Het |
| Masp2 |
A |
G |
4: 148,696,597 (GRCm39) |
E398G |
probably benign |
Het |
| Mcm3ap |
C |
T |
10: 76,312,352 (GRCm39) |
S477L |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,151,655 (GRCm39) |
V256A |
possibly damaging |
Het |
| Muc1 |
T |
A |
3: 89,138,888 (GRCm39) |
I499K |
probably benign |
Het |
| Nup50 |
G |
A |
15: 84,811,648 (GRCm39) |
|
probably null |
Het |
| Or13a21 |
A |
T |
7: 139,999,266 (GRCm39) |
I140N |
probably damaging |
Het |
| Or4p20 |
T |
A |
2: 88,253,779 (GRCm39) |
M197L |
probably benign |
Het |
| Or52e18 |
A |
G |
7: 104,609,195 (GRCm39) |
V248A |
probably damaging |
Het |
| Or5ar1 |
T |
A |
2: 85,671,658 (GRCm39) |
H159L |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,905,683 (GRCm39) |
H4971L |
unknown |
Het |
| Pcsk1 |
G |
T |
13: 75,247,473 (GRCm39) |
|
probably null |
Het |
| Pik3r5 |
C |
A |
11: 68,381,426 (GRCm39) |
T204N |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,107,300 (GRCm39) |
V1621A |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,814,806 (GRCm39) |
*902W |
probably null |
Het |
| R3hdm2 |
A |
G |
10: 127,334,298 (GRCm39) |
D907G |
probably benign |
Het |
| R3hdm4 |
A |
T |
10: 79,752,655 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
C |
T |
9: 65,558,285 (GRCm39) |
A107V |
probably benign |
Het |
| Rgs14 |
G |
A |
13: 55,531,934 (GRCm39) |
E544K |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,445,822 (GRCm39) |
Q2623* |
probably null |
Het |
| Sec16b |
G |
A |
1: 157,378,695 (GRCm39) |
|
probably null |
Het |
| Spire1 |
C |
T |
18: 67,636,508 (GRCm39) |
R386Q |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,201,625 (GRCm39) |
Y492F |
probably damaging |
Het |
| Stk38l |
C |
T |
6: 146,677,104 (GRCm39) |
T427I |
probably benign |
Het |
| Tbx5 |
C |
A |
5: 119,979,909 (GRCm39) |
L152I |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,925 (GRCm39) |
M237T |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,510,000 (GRCm39) |
F526I |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,601,536 (GRCm39) |
R826Q |
|
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 |
|
|
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 |
|
|
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'- CTTACCAGGCGCTTCAATCTG -3'
(R):5'- ATACCTTTGGAGAGTGTGGTCC -3'
Sequencing Primer
(F):5'- TTCAATCTGCGCAGGCTG -3'
(R):5'- ATCTGGAGGGAAGTCTTC -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation