Incidental Mutation 'IGL02494:Ocrl'
ID 295770
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 # IGL02494
Quality Score
Status
Chromosome X
Chromosomal Location 47912387-47965868 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) G to A at 47933438 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 262 (D262N)
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: D262N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000001202
Gene: ENSMUSG00000001173
AA Change: D262N

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: D262N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110672
Gene: ENSMUSG00000001173
AA Change: D262N

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 noncoding transcript
Transcript: ENSMUST00000146486
Predicted Effect probably benign
Transcript: ENSMUST00000154732
SMART Domains Protein: ENSMUSP00000122084
Gene: ENSMUSG00000001173

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldob C T 4: 49,541,138 C178Y possibly damaging Het
Arg2 A G 12: 79,151,923 R242G probably benign Het
Ash1l T A 3: 89,066,218 L2528* probably null Het
Astn2 T A 4: 65,992,348 M468L probably benign Het
Bglap2 A T 3: 88,377,936 C74* probably null Het
Cand1 A G 10: 119,213,617 V408A probably benign Het
Ccdc14 A G 16: 34,723,414 Y714C probably damaging Het
Ccdc88c C T 12: 100,945,475 G707D probably benign Het
Cdk13 G A 13: 17,739,125 R890* probably null Het
Cep192 A G 18: 67,804,383 E61G probably benign Het
Ctdspl T C 9: 119,037,416 L181P probably damaging Het
Dock7 C T 4: 98,989,234 V442M probably benign Het
Dopey1 T C 9: 86,526,818 V1860A probably damaging Het
Efr3b C T 12: 3,983,391 V139I probably benign Het
Fscn2 G A 11: 120,362,402 V232M probably benign Het
Gemin5 A T 11: 58,121,757 C1458S probably benign Het
Glrb A G 3: 80,845,232 V408A probably benign Het
Gtse1 C T 15: 85,867,503 P299L probably damaging Het
Hcfc1r1 T A 17: 23,674,585 M46K probably damaging Het
Hdc A G 2: 126,594,121 F610S probably benign Het
Hip1 A T 5: 135,444,791 C224* probably null Het
Hsd17b10 G T X: 152,004,234 A241S probably benign Het
Igsf10 G T 3: 59,328,006 Q1585K probably damaging Het
Kat2b T C 17: 53,653,205 Y514H probably damaging Het
Krt78 T C 15: 101,954,051 I58M probably benign Het
Lcat C A 8: 105,941,939 probably benign Het
Naca G A 10: 128,041,310 probably benign Het
Nbea T C 3: 55,805,351 K2102E probably benign Het
Olfr1272 G A 2: 90,281,951 S208F probably benign Het
Olfr371 C A 8: 85,230,683 L63I possibly damaging Het
Olfr395 A C 11: 73,906,724 I256S possibly damaging Het
Olfr732 A T 14: 50,282,226 V9D probably damaging Het
Patj T A 4: 98,703,987 probably benign Het
Pcdhb17 G A 18: 37,485,294 A46T possibly damaging Het
Phf8 T C X: 151,625,231 V859A probably benign Het
Plec T A 15: 76,176,779 E3054V probably damaging Het
Prr12 C A 7: 45,028,846 K1958N unknown Het
Psmf1 A G 2: 151,741,009 probably null Het
Rsu1 T C 2: 13,217,191 probably null Het
Samm50 T C 15: 84,195,814 V31A probably benign Het
St14 A G 9: 31,108,645 V56A possibly damaging Het
Trpc1 T C 9: 95,708,307 N699S probably damaging Het
Ttn A T 2: 76,743,800 M25583K probably damaging Het
Utrn A G 10: 12,710,054 V993A probably benign Het
Other mutations in Ocrl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00925:Ocrl APN X 47947097 missense probably benign 0.04
IGL02142:Ocrl APN X 47936118 missense probably damaging 0.98
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 2015-04-16