This recessive hypomorphic allele was identified in a forward genetic screen in the mouse that caused rapid cystic renal disease (Legue and Liem, 2019) and the analogous mutation in human TULP3, K389I, disrupted ciliary trafficking of ARL13B, GPR161, and INPP5E (Palicharla et al., 2021). The gene discussed is INPP5E; the disease is cystic kidney disease.