|Institutional Source||Beutler Lab|
|Gene Name||glial cells missing homolog 2|
|Is this an essential gene?||Possibly non essential (E-score: 0.452)|
|Stock #||R8293 (G1)|
|Chromosomal Location||41101427-41111035 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to G at 41103170 bp|
|Amino Acid Change||Tyrosine to Histidine at position 368 (Y368H)|
|Ref Sequence||ENSEMBL: ENSMUSP00000021791 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000021791]|
|Predicted Effect||probably damaging
AA Change: Y368H
PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
AA Change: Y368H
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice lack parathyroid glands and exhibit hypocalcemia, hypophosphatemia, a mild abnormal bone phenotype, and partial perinatal lethality. Hypoparathyroidism is observed although parathyroid hormone serum levels are normal. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gcm2||
(F):5'- GCCTGAATGACTCCCTCTTG -3'
(R):5'- CGATGACCCAGATTGGATTCC -3'
(F):5'- CCCTCTTGAGGGTCTAAGGCTG -3'
(R):5'- TGACCCAGATTGGATTCCTCTAAAC -3'