|Institutional Source||Beutler Lab|
|Gene Name||GLIS family zinc finger 2|
|Is this an essential gene?||Probably essential (E-score: 0.910)|
|Stock #||R7286 (G1)|
|Chromosomal Location||4594713-4624924 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to G at 4611318 bp|
|Amino Acid Change||Serine to Arginine at position 128 (S128R)|
|Ref Sequence||ENSEMBL: ENSMUSP00000014447 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000014447] [ENSMUST00000141682]|
|Predicted Effect||possibly damaging
AA Change: S128R
PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
AA Change: S128R
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the GLI-similar zinc finger protein family and encodes a nuclear transcription factor with five C2H2-type zinc finger domains. The protein encoded by this gene is widely expressed at low levels in the neural tube and peripheral nervous system and likely promotes neuronal differentiation. It is abundantly expressed in the kidney and may have a role in the regulation of kidney morphogenesis. p120 regulates the expression level of this protein and induces the cleavage of this protein's C-terminal zinc finger domain. This protein also promotes the nuclear translocation of p120. Mutations in this gene cause nephronophthisis (NPHP), an autosomal recessive kidney disease characterized by tubular basement membrane disruption, interstitial lymphohistiocytic cell infiltration, and development of cysts at the corticomedullary border of the kidneys.[provided by RefSeq, Jan 2010]
PHENOTYPE: Mice homozygous for a fusion allele exhibit decreased kidney weight, kidney atrophy, kidney cysts, and interstitial fibrosis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Glis2||
(F):5'- GCCTTTGCCTTTCAAGTGCTAG -3'
(R):5'- AAAGAGCTGGTTACACTGTGGG -3'
(F):5'- CCTTTCAAGTGCTAGGATTTAAAGGC -3'
(R):5'- CAGGGTTCTGAGCCCAAGTAG -3'