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, OCRL1
Accession Numbers

Genbank: NM_177215; MGI: 109589
Is this an essential gene? Possibly non essential (E-score: 0.369) question?
Stock # IGL00925
Quality Score
Status
Chromosome X
Chromosomal Location 47912387-47965868 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 47947097 bp (GRCm38)
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik T A 6: 48,931,040 Y325N probably damaging Het
Atoh8 A G 6: 72,234,569 V199A probably benign Het
Celf2 A T 2: 6,721,577 D6E probably benign Het
Cep170 T C 1: 176,793,524 D29G probably damaging Het
Cpb2 T C 14: 75,260,750 Y118H possibly damaging Het
Esf1 A G 2: 140,167,817 S200P probably benign Het
Glmn A T 5: 107,557,327 N474K probably damaging Het
Maea T C 5: 33,372,301 V377A probably benign Het
Npepps A G 11: 97,280,283 V59A probably damaging Het
Olfr1043 T C 2: 86,162,920 T10A probably benign Het
Pclo T C 5: 14,766,741 S4544P unknown Het
Per3 T C 4: 151,013,598 Y693C probably benign Het
Prkacb G T 3: 146,748,042 P167H probably benign Het
Ptprt A G 2: 161,656,163 S837P possibly damaging Het
Sema7a G T 9: 57,955,838 C264F probably damaging Het
Slitrk4 G T X: 64,272,051 P337T probably damaging Het
Tango6 T G 8: 106,695,445 probably benign Het
Tecta T C 9: 42,375,035 D775G probably benign Het
Tmem45a2 T A 16: 57,045,255 N189Y probably damaging Het
Ttc8 A G 12: 98,976,018 N364S probably damaging Het
Uhrf1 A G 17: 56,320,535 D697G probably benign Het
Vmn1r185 G A 7: 26,611,190 L297F probably benign Het
Vmn2r11 T C 5: 109,047,019 T814A probably benign Het
Wdr36 A G 18: 32,845,631 T198A possibly damaging Het
Zfhx2 G A 14: 55,073,061 P676L probably benign Het
Zfp451 A G 1: 33,776,261 probably benign Het
Other mutations in Ocrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02142:Ocrl APN X 47936118 missense probably damaging 0.98
IGL02494:Ocrl APN X 47933438 missense probably benign
IGL02496:Ocrl APN X 47933438 missense probably benign
D4043:Ocrl UTSW X 47936323 missense probably benign 0.44
R0599:Ocrl UTSW X 47936086 unclassified probably benign
R1834:Ocrl UTSW X 47962116 missense probably damaging 1.00
R1835:Ocrl UTSW X 47962116 missense probably damaging 1.00
R1836:Ocrl UTSW X 47962116 missense probably damaging 1.00
R3113:Ocrl UTSW X 47933427 missense probably benign
R3780:Ocrl UTSW X 47938303 missense probably benign 0.04
Posted On 2013-04-17