Incidental Mutation 'R0599:Ocrl'
ID 55261
Institutional Source Beutler Lab
Gene Symbol Ocrl
Ensembl Gene ENSMUSG00000001173
Gene Name OCRL, inositol polyphosphate-5-phosphatase
Synonyms 9530014D17Rik, OCRL1
MMRRC Submission 038788-MU
Accession Numbers

Genbank: NM_177215; MGI: 109589

Is this an essential gene? Possibly non essential (E-score: 0.316) question?
Stock # R0599 (G1)
Quality Score 222
Status Validated
Chromosome X
Chromosomal Location 47912387-47965868 bp(+) (GRCm38)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 47936086 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000001202] [ENSMUST00000115020]
AlphaFold Q6NVF0
Predicted Effect probably benign
Transcript: ENSMUST00000001202
SMART Domains Protein: ENSMUSP00000001202
Gene: ENSMUSG00000001173

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
SMART Domains Protein: ENSMUSP00000110672
Gene: ENSMUSG00000001173

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

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
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 98% (80/82)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 A G 6: 128,552,245 L978P probably damaging Het
Abcb1a C T 5: 8,698,539 T290M probably benign Het
Abcd3 A T 3: 121,765,093 F585I probably damaging Het
Acan A G 7: 79,111,290 probably benign Het
Anxa6 T C 11: 54,979,466 D667G possibly damaging Het
Ap3m2 G T 8: 22,793,112 A208D possibly damaging Het
Arhgap17 A T 7: 123,303,790 probably benign Het
Bptf A G 11: 107,068,382 V1838A probably damaging Het
Brip1 T A 11: 86,152,737 M334L probably benign Het
Btbd10 C T 7: 113,335,309 probably benign Het
Btbd11 G A 10: 85,658,336 G1106D probably damaging Het
Cdh7 C A 1: 110,052,966 T208K probably damaging Het
Cnga4 A G 7: 105,405,818 Y100C probably damaging Het
Dnah10 G A 5: 124,800,953 V2644M probably damaging Het
Dnah9 T C 11: 65,965,689 D2882G probably damaging Het
Eapp T A 12: 54,685,962 K117M probably damaging Het
Eml3 T C 19: 8,939,063 V673A probably benign Het
Ephb4 G A 5: 137,369,855 C754Y probably damaging Het
Eps8l1 A G 7: 4,477,957 D33G possibly damaging Het
Farsa A G 8: 84,867,583 K321E probably damaging Het
Fry G A 5: 150,437,159 R2090Q probably damaging Het
Gm10283 A G 8: 60,501,224 probably benign Het
Grm4 A G 17: 27,431,490 I844T probably benign Het
Gtf2h3 A G 5: 124,588,628 D124G probably benign Het
Gulo A T 14: 65,990,441 D347E probably damaging Het
Hmcn1 A G 1: 150,609,801 F4350S possibly damaging Het
Hspg2 A G 4: 137,512,401 D473G probably damaging Het
Il17ra T A 6: 120,481,505 I539N probably damaging Het
Insrr A G 3: 87,813,133 E1026G probably damaging Het
Itga2 A T 13: 114,856,650 probably benign Het
Kdm1b A T 13: 47,058,810 D190V possibly damaging Het
Lima1 A T 15: 99,802,159 N146K probably damaging Het
Mettl7a3 A T 15: 100,335,383 N152Y possibly damaging Het
Mnt G T 11: 74,842,296 V85L probably benign Het
Mon2 T A 10: 123,026,065 probably benign Het
Mtf1 T C 4: 124,820,201 probably benign Het
Mylk4 T C 13: 32,712,754 probably null Het
Myo18b A C 5: 112,865,750 L780R probably damaging Het
Myo1e A G 9: 70,376,660 probably benign Het
Obscn A G 11: 59,073,696 S705P probably damaging Het
Olfr1260 T C 2: 89,978,201 F141S probably benign Het
Olfr394 A T 11: 73,887,904 M156K probably benign Het
Olfr599 A G 7: 103,338,186 N44S probably damaging Het
Olfr639 A T 7: 104,012,188 C171* probably null Het
Otof T A 5: 30,370,705 K1931N probably damaging Het
Plcxd3 A G 15: 4,516,867 S118G probably damaging Het
Plcz1 T A 6: 140,028,542 Q58L probably benign Het
Proser1 C A 3: 53,479,064 P789Q probably benign Het
Rassf4 T C 6: 116,645,936 E38G probably damaging Het
Ros1 A T 10: 52,123,300 Y1164N probably damaging Het
Rpgrip1l A G 8: 91,305,000 I83T probably damaging Het
Scn9a T G 2: 66,526,799 K1053Q probably damaging Het
Sgsm1 G T 5: 113,245,028 Q1087K probably damaging Het
Slc16a10 T C 10: 40,141,918 D40G probably benign Het
Slc27a6 A G 18: 58,556,813 D117G probably damaging Het
Slc2a9 T A 5: 38,480,144 probably benign Het
Slc4a1 A G 11: 102,357,915 probably benign Het
Smarca1 T A X: 47,823,426 Q982L probably benign Het
Sp100 T A 1: 85,681,110 I320N possibly damaging Het
Stx8 A T 11: 68,109,362 R209S probably null Het
Sulf2 T C 2: 166,083,879 T453A possibly damaging Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,097,960 probably null Het
Tenm2 T A 11: 36,024,780 I1976F possibly damaging Het
Tenm3 G A 8: 48,277,710 S1341L probably damaging Het
Tmem130 C T 5: 144,737,809 V369M probably damaging Het
Tmem200c A G 17: 68,840,511 K30E probably damaging Het
Tmem225 A G 9: 40,149,747 I117V possibly damaging Het
Top2a A G 11: 99,001,417 I1073T probably damaging Het
Trps1 A C 15: 50,831,860 Y296* probably null Het
Tubg1 T C 11: 101,125,336 M377T probably benign Het
Vmn1r35 G A 6: 66,679,513 H58Y probably benign Het
Vmn1r56 G A 7: 5,196,430 H63Y probably benign Het
Vmn1r75 T C 7: 11,881,262 probably null Het
Vnn3 T C 10: 23,865,705 S303P possibly damaging Het
Wdr49 C T 3: 75,431,076 probably null Het
Wdr49 T C 3: 75,449,890 probably null Het
Zcchc6 A G 13: 59,809,487 V7A probably damaging Het
Zzef1 T C 11: 72,913,178 L2582P probably damaging 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
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
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
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2013-07-11