|Institutional Source||Beutler Lab|
|Gene Name||parathyroid hormone|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R5240 (G1)|
|Chromosomal Location||113385580-113388570 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 113385844 bp|
|Amino Acid Change||Aspartic acid to Glutamic Acid at position 107 (D107E)|
|Ref Sequence||ENSEMBL: ENSMUSP00000078723 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000079793]|
|Predicted Effect||probably damaging
AA Change: D107E
PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
AA Change: D107E
|Meta Mutation Damage Score||0.6467|
|Coding Region Coverage||
|Validation Efficiency||100% (69/69)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which can result in hypocalcemia and numbness. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit diminished cartilage mineralization, and reductions in angiopoietin-1, neovascularization, metaphyseal osteoblasts, and trabecular bone. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Pth||
(F):5'- CACTGCTTACTTGATTCATGAGC -3'
(R):5'- CTCCATGGAGAGGATGCAATGG -3'
(F):5'- TTGAAATGGAATCATTGAAAGAGACC -3'
(R):5'- CAATGGCTGAGAAGGAAGCTGC -3'