|Institutional Source||Beutler Lab|
|Synonyms||Nphp8, fantom, Ftm, 1700047E16Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R7145 (G1)|
|Chromosomal Location||91217030-91313262 bp(-) (GRCm38)|
|Type of Mutation||critical splice donor site (2 bp from exon)|
|DNA Base Change (assembly)||A to T at 91232806 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000042702 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000047783] [ENSMUST00000139113]|
|Predicted Effect||probably null
|Predicted Effect||probably benign
|Coding Region Coverage||
|MGI Phenotype||Strain: 3716208
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]
PHENOTYPE: Mice homozygous for a knock-out allele do not survive after birth and show exencephaly, polydactyly, laterality defects, abnormal floor plate induction and neural tube patterning, cleft lip, micro- and anophthalmia, and variable cerebral, renal, and hepatic defects due to primary cilium dysfuntion. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Rpgrip1l||
(F):5'- AGTTATCACTTTCCCGGTGC -3'
(R):5'- GCCATCAGAAGAAATTCGGATTGAG -3'
(F):5'- CGTGTTTTCTCTAATTTTACAACGAC -3'
(R):5'- CGGATTGAGATCATAGCTCTGAACC -3'