Incidental Mutation 'IGL00925:Ocrl'
| ID |
29580 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ocrl
|
| Ensembl Gene |
ENSMUSG00000001173 |
| Gene Name |
OCRL, inositol polyphosphate-5-phosphatase |
| Synonyms |
9530014D17Rik, oculocerebrorenal syndrome of Lowe, OCRL1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.397)
|
| Stock # |
IGL00925
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
47001264-47054745 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 47035974 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 565
(E565G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110672
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000001202]
[ENSMUST00000115020]
|
| AlphaFold |
Q6NVF0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000001202
AA Change: E565G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000001202
Gene: ENSMUSG00000001173
AA Change: E565G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:OCRL_clath_bd
|
18 |
118 |
1.5e-47 |
PFAM |
|
low complexity region
|
168 |
189 |
N/A |
INTRINSIC |
|
IPPc
|
237 |
538 |
1.16e-147 |
SMART |
|
Blast:RhoGAP
|
673 |
704 |
2e-11 |
BLAST |
|
RhoGAP
|
731 |
895 |
4.93e-39 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115020
AA Change: E565G
PolyPhen 2
Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000110672
Gene: ENSMUSG00000001173
AA Change: E565G
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2KIE|A
|
1 |
119 |
7e-69 |
PDB |
|
low complexity region
|
168 |
189 |
N/A |
INTRINSIC |
|
IPPc
|
237 |
538 |
1.16e-147 |
SMART |
|
PDB:2QV2|A
|
561 |
722 |
1e-97 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142719
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000154732
AA Change: E169G
|
| SMART Domains |
Protein: ENSMUSP00000122084
Gene: ENSMUSG00000001173
AA Change: E169G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Exo_endo_phos
|
1 |
79 |
5.9e-6 |
PFAM |
|
Blast:IPPc
|
139 |
175 |
5e-13 |
BLAST |
|
PDB:3QBT|H
|
144 |
266 |
7e-83 |
PDB |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygous null mice do not develop and of the abnormalities associated with oculocerebrorenal syndrome of Lowe. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(6) : Targeted, knock-out(2) Gene trapped(4) |
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aoc1l2 |
T |
A |
6: 48,907,974 (GRCm39) |
Y325N |
probably damaging |
Het |
| Atoh8 |
A |
G |
6: 72,211,553 (GRCm39) |
V199A |
probably benign |
Het |
| Celf2 |
A |
T |
2: 6,726,388 (GRCm39) |
D6E |
probably benign |
Het |
| Cep170 |
T |
C |
1: 176,621,090 (GRCm39) |
D29G |
probably damaging |
Het |
| Cpb2 |
T |
C |
14: 75,498,190 (GRCm39) |
Y118H |
possibly damaging |
Het |
| Esf1 |
A |
G |
2: 140,009,737 (GRCm39) |
S200P |
probably benign |
Het |
| Glmn |
A |
T |
5: 107,705,193 (GRCm39) |
N474K |
probably damaging |
Het |
| Maea |
T |
C |
5: 33,529,645 (GRCm39) |
V377A |
probably benign |
Het |
| Npepps |
A |
G |
11: 97,171,109 (GRCm39) |
V59A |
probably damaging |
Het |
| Or5al7 |
T |
C |
2: 85,993,264 (GRCm39) |
T10A |
probably benign |
Het |
| Pclo |
T |
C |
5: 14,816,755 (GRCm39) |
S4544P |
unknown |
Het |
| Per3 |
T |
C |
4: 151,098,055 (GRCm39) |
Y693C |
probably benign |
Het |
| Prkacb |
G |
T |
3: 146,453,797 (GRCm39) |
P167H |
probably benign |
Het |
| Ptprt |
A |
G |
2: 161,498,083 (GRCm39) |
S837P |
possibly damaging |
Het |
| Sema7a |
G |
T |
9: 57,863,121 (GRCm39) |
C264F |
probably damaging |
Het |
| Slitrk4 |
G |
T |
X: 63,315,657 (GRCm39) |
P337T |
probably damaging |
Het |
| Tango6 |
T |
G |
8: 107,422,077 (GRCm39) |
|
probably benign |
Het |
| Tecta |
T |
C |
9: 42,286,331 (GRCm39) |
D775G |
probably benign |
Het |
| Tmem45a2 |
T |
A |
16: 56,865,618 (GRCm39) |
N189Y |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,942,277 (GRCm39) |
N364S |
probably damaging |
Het |
| Uhrf1 |
A |
G |
17: 56,627,535 (GRCm39) |
D697G |
probably benign |
Het |
| Vmn1r185 |
G |
A |
7: 26,310,615 (GRCm39) |
L297F |
probably benign |
Het |
| Vmn2r11 |
T |
C |
5: 109,194,885 (GRCm39) |
T814A |
probably benign |
Het |
| Wdr36 |
A |
G |
18: 32,978,684 (GRCm39) |
T198A |
possibly damaging |
Het |
| Zfhx2 |
G |
A |
14: 55,310,518 (GRCm39) |
P676L |
probably benign |
Het |
| Zfp451 |
A |
G |
1: 33,815,342 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ocrl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02142:Ocrl
|
APN |
X |
47,024,995 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02494:Ocrl
|
APN |
X |
47,022,315 (GRCm39) |
missense |
probably benign |
|
|
IGL02496:Ocrl
|
APN |
X |
47,022,315 (GRCm39) |
missense |
probably benign |
|
|
D4043:Ocrl
|
UTSW |
X |
47,025,200 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0599:Ocrl
|
UTSW |
X |
47,024,963 (GRCm39) |
unclassified |
probably benign |
|
|
R1834:Ocrl
|
UTSW |
X |
47,050,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1835:Ocrl
|
UTSW |
X |
47,050,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Ocrl
|
UTSW |
X |
47,050,993 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3113:Ocrl
|
UTSW |
X |
47,022,304 (GRCm39) |
missense |
probably benign |
|
|
R3780:Ocrl
|
UTSW |
X |
47,027,180 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Posted On |
2013-04-17 |
Incidental Mutation